#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
UBE2J2	118424	broad.mit.edu	37	1	1190769	1190769	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:1190769G>A	ENST00000349431.6	-	7	813	c.594C>T	c.(592-594)gtC>gtT	p.V198V	UBE2J2_ENST00000360466.2_Silent_p.V198V|UBE2J2_ENST00000339385.6_Silent_p.V163V|UBE2J2_ENST00000347370.2_Silent_p.V146V|UBE2J2_ENST00000400930.4_Silent_p.V214V|UBE2J2_ENST00000491779.1_5'Flank|UBE2J2_ENST00000348298.7_Silent_p.V146V|UBE2J2_ENST00000400929.2_Silent_p.V146V	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	198					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.V214V(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCCCGTTCTGGACGAGGTGCG	0.617																																							uc001adn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)GTC>GTT		ubiquitin conjugating enzyme E2, J2 isoform 3							105.0	115.0	112.0					1																	1190769		2203	4300	6503	SO:0001819	synonymous_variant	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1190769G>A	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.594C>T	1.37:g.1190769G>A						UBE2J2_uc001adm.2_Silent_p.V163V|UBE2J2_uc001ado.2_Silent_p.V214V|UBE2J2_uc001adp.2_Silent_p.V198V|UBE2J2_uc001adq.2_Silent_p.V146V|UBE2J2_uc001adr.2_Silent_p.V146V|UBE2J2_uc001ads.2_Silent_p.V146V	p.V198V	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	7	904	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	198			Cytoplasmic (Potential).		A8MYC7|Q504T9|Q96N26|Q96T84	Silent	SNP	ENST00000349431.6	37	c.594C>T	CCDS14.1																																																																																				0.617	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		33	146	0	0	0	0.004289	0	33	146				
CFAP74	85452	broad.mit.edu	37	1	1920390	1920390	+	Silent	SNP	C	C	G	rs200633733		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:1920390C>G	ENST00000434971.2	-	3	122	c.90G>C	c.(88-90)ccG>ccC	p.P30P				Q69YW0	CA222_HUMAN		256								p.P30P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTCAAACTCCGGATCCTCTA	0.438																																							uc001aim.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(88-90)CCG>CCC		hypothetical protein LOC85452							52.0	54.0	53.0					1																	1920390		1843	4087	5930	SO:0001819	synonymous_variant	85452							g.chr1:1920390C>G																												ENST00000434971.2:c.90G>C	1.37:g.1920390C>G						KIAA1751_uc009vkz.1_Silent_p.P30P|KIAA1751_uc001ain.1_Silent_p.P30P	p.P30P	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	3	246	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	30						Silent	SNP	ENST00000434971.2	37	c.90G>C																																																																																					0.438	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				9	68	0	0	0	0.001368	0	9	68				
CCDC27	148870	broad.mit.edu	37	1	3669282	3669282	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:3669282G>T	ENST00000294600.2	+	1	321	c.237G>T	c.(235-237)cgG>cgT	p.R79R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	79								p.R79R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGGACGCCCGGTGCCCAGAAT	0.632																																							uc001akv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(235-237)CGG>CGT		coiled-coil domain containing 27							60.0	58.0	59.0					1																	3669282		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3669282G>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.237G>T	1.37:g.3669282G>T							p.R79R	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	318	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	79					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.237G>T	CCDS50.1																																																																																				0.632	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		9	56	1	0	7.03913e-09	0.001368	9.64022e-09	9	56				
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:3807396G>A	ENST00000361605.3	-	3	453	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119						nucleus (GO:0005634)		p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567																																							uc001alf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CTT>TTT		hypothetical protein LOC339448							60.0	56.0	57.0					1																	3807396		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3807396G>A	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.355C>T	1.37:g.3807396G>A	ENSP00000355306:p.Leu119Phe					C1orf174_uc009vls.2_RNA	p.L119F	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	462	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	119					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.355C>T	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444205	0.43429	.	.	ENSG00000198912	ENST00000361605	T	0.08102	3.13	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.12433	0.0302	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.58391	0.838	T	0.28459	-1.0043	10	0.48119	T	0.1	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	F	119	ENSP00000355306:L119F	ENSP00000355306:L119F	L	-	1	0	C1orf174	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT		0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		6	52	0	0	0	0.001168	0	6	52				
NPHP4	261734	broad.mit.edu	37	1	5967250	5967250	+	Silent	SNP	C	C	A	rs368436034		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:5967250C>A	ENST00000378156.4	-	13	1801	c.1536G>T	c.(1534-1536)cgG>cgT	p.R512R	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	512					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.R512R(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCGGGGACCGCGGGGAGG	0.632																																							uc001alq.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1534-1536)CGG>CGT		nephroretinin							18.0	24.0	22.0					1																	5967250		1994	4143	6137	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5967250C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1536G>T	1.37:g.5967250C>A						NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron|NPHP4_uc009vlu.1_5'Flank	p.R512R	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	13	1802	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	512					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1536G>T	CCDS44052.1																																																																																				0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	18	1	0	0.00116845	0.001168	0.00126555	4	18				
KCNAB2	8514	broad.mit.edu	37	1	6147562	6147562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:6147562G>T	ENST00000164247.1	+	8	926	c.362G>T	c.(361-363)tGg>tTg	p.W121L	KCNAB2_ENST00000352527.1_Missense_Mutation_p.W107L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.W54L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000378092.1_Missense_Mutation_p.W107L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000378083.3_Missense_Mutation_p.W154L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	121					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.W121L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATCTTCTGGGGCGGAAAG	0.642																																							uc009vlv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)TGG>TTG		potassium voltage-gated channel, shaker-related							87.0	86.0	86.0					1																	6147562		2203	4300	6503	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6147562G>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.362G>T	1.37:g.6147562G>T	ENSP00000164247:p.Trp121Leu					KCNAB2_uc001alv.1_Missense_Mutation_p.W121L|KCNAB2_uc001alw.1_Missense_Mutation_p.W107L|KCNAB2_uc001alx.1_Missense_Mutation_p.W121L|KCNAB2_uc001aly.1_Missense_Mutation_p.W154L|KCNAB2_uc009vlw.1_Missense_Mutation_p.W54L|KCNAB2_uc001alu.2_Missense_Mutation_p.W121L	p.W121L	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	8	497	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	121					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.362G>T	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939131	0.92526	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.13	5.13	0.70059	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.51914	1.62	0.80722	D	1	D;D;D;P	0.62365	0.976;0.988;0.991;0.952	D;P;D;P	0.64144	0.912;0.823;0.922;0.627	T	0.61554	-0.7039	10	0.87932	D	0	-9.0885	17.5608	0.87906	0.0:0.0:1.0:0.0	.	154;107;121;121	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	L	121;107;107;121;121;107;121;154;54	ENSP00000367337:W121L;ENSP00000367332:W107L;ENSP00000400285:W107L;ENSP00000374283:W121L;ENSP00000340824:W121L;ENSP00000318772:W107L;ENSP00000164247:W121L;ENSP00000367323:W154L;ENSP00000396167:W54L	ENSP00000164247:W121L	W	+	2	0	KCNAB2	6070149	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.265000	0.95647	2.387000	0.81309	0.462000	0.41574	TGG		0.642	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		20	84	1	0	2.98393e-07	0.00278	3.83565e-07	20	84				
CHD5	26038	broad.mit.edu	37	1	6196657	6196657	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:6196657C>G	ENST00000262450.3	-	17	2715	c.2616G>C	c.(2614-2616)ctG>ctC	p.L872L	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.L872L(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)		CTGTCAGCAGCAGCTTGTAAT	0.572																																							uc001amb.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2614-2616)CTG>CTC		chromodomain helicase DNA binding protein 5							58.0	68.0	65.0					1																	6196657		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6196657C>G	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.2616G>C	1.37:g.6196657C>G						CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.L872L	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)	17	2716	-	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)	872			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2616G>C	CCDS57.1																																																																																				0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		18	143	0	0	0	0.008871	0	18	143				
RERE	473	broad.mit.edu	37	1	8425871	8425871	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:8425871C>T	ENST00000337907.3	-	14	2082		c.e14+1		RERE_ENST00000400907.2_Splice_Site|RERE_ENST00000377464.1_Splice_Site|RERE_ENST00000400908.2_Splice_Site|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000476556.1_Splice_Site	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats						chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCCTACTCACAGAATTCACT	0.627																																							uc001ape.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e14+1		atrophin-1 like protein isoform a							72.0	77.0	76.0					1																	8425871		2203	4300	6503	SO:0001630	splice_region_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8425871C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1447+1G>A	1.37:g.8425871C>T						RERE_uc001apf.2_Splice_Site_p.L483_splice|RERE_uc010nzx.1_Splice_Site_p.L215_splice|RERE_uc001apd.2_Splice_Site	p.L483_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	14	2257	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)						O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Splice_Site	SNP	ENST00000337907.3	37	c.1447_splice	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114026	0.77210	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.074	0.93151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RERE	8348458	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.818000	0.86416	2.753000	0.94483	0.650000	0.86243	.		0.627	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		Intron	12	63	0	0	0	0.001368	0	12	63				
KIF1B	23095	broad.mit.edu	37	1	10335490	10335490	+	Missense_Mutation	SNP	A	A	T	rs141350047		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:10335490A>T	ENST00000377086.1	+	11	1089	c.887A>T	c.(886-888)aAa>aTa	p.K296I	KIF1B_ENST00000377081.1_Missense_Mutation_p.K296I|KIF1B_ENST00000263934.6_Missense_Mutation_p.K290I|KIF1B_ENST00000377093.4_Missense_Mutation_p.K290I|KIF1B_ENST00000377083.1_Missense_Mutation_p.K290I			O60333	KIF1B_HUMAN	kinesin family member 1B	296	Interaction with KBP.|Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K290I(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAATAGAGTAAAAAGAAGAAG	0.318																																							uc001aqx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(886-888)AAA>ATA		kinesin family member 1B isoform b							64.0	69.0	67.0					1																	10335490		2203	4299	6502	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10335490A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.887A>T	1.37:g.10335490A>T	ENSP00000366290:p.Lys296Ile					KIF1B_uc001aqv.3_Missense_Mutation_p.K290I|KIF1B_uc001aqw.3_Missense_Mutation_p.K290I|KIF1B_uc001aqy.2_Missense_Mutation_p.K296I|KIF1B_uc001aqz.2_Missense_Mutation_p.K296I|KIF1B_uc001ara.2_Missense_Mutation_p.K296I|KIF1B_uc001arb.2_Missense_Mutation_p.K296I	p.K296I	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	11	1089	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	296			Kinesin-motor.|Interaction with KBP.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.887A>T		.	.	.	.	.	.	.	.	.	.	A	33	5.234433	0.95207	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.89050	-2.46;-2.46;-2.3;-2.46;-2.3	5.85	5.85	0.93711	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.83223	2.63	0.80722	D	1	D;D;D;D;P;D;P	0.89917	1.0;0.998;0.999;0.993;0.588;0.999;0.593	D;D;D;D;B;D;P	0.83275	0.996;0.992;0.993;0.968;0.344;0.996;0.511	D	0.95212	0.8326	10	0.66056	D	0.02	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	296;296;296;296;296;290;290	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	I	296;290;290;296;290;296	ENSP00000263934:K290I;ENSP00000366297:K290I;ENSP00000366290:K296I;ENSP00000366287:K290I;ENSP00000366284:K296I	ENSP00000263934:K290I	K	+	2	0	KIF1B	10258077	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.788000	0.91834	2.234000	0.73211	0.533000	0.62120	AAA		0.318	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	87	0	0	0	0.004482	0	7	87				
NPPB	4879	broad.mit.edu	37	1	11918461	11918461	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:11918461G>A	ENST00000376468.3	-	2	295	c.198C>T	c.(196-198)ccC>ccT	p.P66P		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	66					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P66P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	TCTCCTGGAGGGGCTCCAGGG	0.647																																							uc001atj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(196-198)CCC>CCT		natriuretic peptide precursor B preproprotein	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						27.0	29.0	28.0					1																	11918461		2203	4299	6502	SO:0001819	synonymous_variant	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918461G>A	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.198C>T	1.37:g.11918461G>A							p.P66P	NM_002521	NP_002512	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	300	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	66					B0ZBE9|Q6FGY0|Q9P2Q7	Silent	SNP	ENST00000376468.3	37	c.198C>T	CCDS140.1																																																																																				0.647	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		5	66	0	0	0	0.001168	0	5	66				
AADACL3	126767	broad.mit.edu	37	1	12785391	12785391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12785391C>T	ENST00000359318.5	+	4	686	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	AADACL3_ENST00000332530.3_Nonsense_Mutation_p.Q91*	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	161							hydrolase activity (GO:0016787)	p.Q161*(1)|p.Q91*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGGGCTCAGATCCTGAT	0.537																																							uc009vnn.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(481-483)CAG>TAG		arylacetamide deacetylase-like 3 isoform 1							126.0	125.0	125.0					1																	12785391		1888	4104	5992	SO:0001587	stop_gained	126767						hydrolase activity	g.chr1:12785391C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.481C>T	1.37:g.12785391C>T	ENSP00000352268:p.Gln161*					AADACL3_uc001aug.1_Nonsense_Mutation_p.Q91*	p.Q161*	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	714	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	161					B3KXR9|Q5VUY1	Nonsense_Mutation	SNP	ENST00000359318.5	37	c.481C>T	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297178	0.81025	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	.	.	.	5.35	5.35	0.76521	.	0.113510	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.6105	18.0667	0.89392	0.0:1.0:0.0:0.0	.	.	.	.	X	91;161	.	ENSP00000333352:Q91X	Q	+	1	0	AADACL3	12707978	1.000000	0.71417	0.434000	0.26772	0.073000	0.16967	6.401000	0.73256	2.504000	0.84457	0.484000	0.47621	CAG		0.537	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		51	284	0	0	0	0.00361	0	51	284				
PRAMEF12	390999	broad.mit.edu	37	1	12837328	12837328	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12837328T>G	ENST00000357726.4	+	3	1065	c.1038T>G	c.(1036-1038)gcT>gcG	p.A346A		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	346					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.A346A(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCAAGCTGAGGCCACCC	0.602																																							uc001aui.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1036-1038)GCT>GCG		PRAME family member 12							84.0	86.0	85.0					1																	12837328		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837328T>G		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1038T>G	1.37:g.12837328T>G							p.A346A	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1065	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	346						Silent	SNP	ENST00000357726.4	37	c.1038T>G	CCDS41254.1																																																																																				0.602	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		26	106	0	0	0	0.00632	0	26	106				
PRAMEF4	400735	broad.mit.edu	37	1	12941888	12941888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12941888G>T	ENST00000235349.5	-	3	732	c.662C>A	c.(661-663)cCc>cAc	p.P221H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	221					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.P221H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		TGTCAGGATGGGCAGTACCCA	0.483																																							uc001aun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)CCC>CAC		PRAME family member 4							158.0	190.0	179.0					1																	12941888		1395	2448	3843	SO:0001583	missense	400735							g.chr1:12941888G>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.662C>A	1.37:g.12941888G>T	ENSP00000235349:p.Pro221His						p.P221H	NM_001009611	NP_001009611	O60810	PRAM4_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	733	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	221					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.662C>A	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	9.095	1.002718	0.19121	.	.	ENSG00000243073	ENST00000235349	T	0.14640	2.49	1.48	0.489	0.16854	.	0.504250	0.19948	N	0.102482	T	0.14787	0.0357	L	0.47716	1.5	0.09310	N	1	P	0.47253	0.892	P	0.51742	0.678	T	0.14811	-1.0459	10	0.19590	T	0.45	.	4.848	0.13523	0.0:0.0:0.6394:0.3606	.	221	O60810	PRAM4_HUMAN	H	221	ENSP00000235349:P221H	ENSP00000235349:P221H	P	-	2	0	PRAMEF4	12864475	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.229000	0.17833	0.173000	0.19788	-0.755000	0.03482	CCC		0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		27	261	1	0	8.53417e-09	0.002836	1.16634e-08	27	261				
CASP9	842	broad.mit.edu	37	1	15831140	15831140	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:15831140C>A	ENST00000333868.5	-	6	928	c.834G>T	c.(832-834)aaG>aaT	p.K278N	CASP9_ENST00000546424.1_Missense_Mutation_p.K278N|CASP9_ENST00000375890.4_Missense_Mutation_p.K195N|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	278					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.K278N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGAGCTTGGGCTTCCCTCCCA	0.607																																							uc001awn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(832-834)AAG>AAT		caspase 9 isoform alpha preproprotein							62.0	56.0	58.0					1																	15831140		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15831140C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.834G>T	1.37:g.15831140C>A	ENSP00000330237:p.Lys278Asn					CASP9_uc001awm.1_Missense_Mutation_p.K278N|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.K122N|CASP9_uc009voi.2_Missense_Mutation_p.K122N|CASP9_uc010obm.1_Missense_Mutation_p.K195N|CASP9_uc001awq.2_Missense_Mutation_p.K195N	p.K278N	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	6	929	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	278					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.834G>T	CCDS158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.015520|4.015520	0.75161|0.75161	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484	.|T;T;T;T;T	.|0.11495	.|2.77;2.77;2.77;2.77;2.77	5.45|5.45	4.34|4.34	0.51931|0.51931	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51415|0.51415	0.1673|0.1673	H|H	0.99525|0.99525	4.61|4.61	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.70706|0.70706	-0.4798|-0.4798	5|10	.|0.87932	.|D	.|0	.|.	12.3818|12.3818	0.55311|0.55311	0.0:0.903:0.0:0.097|0.0:0.903:0.0:0.097	.|.	.|278;278	.|P55211;F8VVS7	.|CASP9_HUMAN;.	S|N	120|278;278;122;195;195;248	.|ENSP00000449584:K278N;ENSP00000330237:K278N;ENSP00000365051:K195N;ENSP00000396540:K195N;ENSP00000411304:K248N	.|ENSP00000330237:K278N	A|K	-|-	1|3	0|2	CASP9|CASP9	15703727|15703727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.362000|2.362000	0.44169|0.44169	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GCC|AAG		0.607	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		10	43	1	0	3.07112e-06	0.000978	3.73776e-06	10	43				
PADI3	51702	broad.mit.edu	37	1	17593246	17593246	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17593246C>A	ENST00000375460.3	+	5	481	c.441C>A	c.(439-441)ggC>ggA	p.G147G		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	147					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G147G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGGGTATGGCGGCATCTTGC	0.597																																							uc001bai.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(439-441)GGC>GGA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						160.0	131.0	141.0					1																	17593246		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17593246C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.441C>A	1.37:g.17593246C>A							p.G147G	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	481	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	147					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.441C>A	CCDS179.1																																																																																				0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			9	97	1	0	3.09899e-07	0.004482	3.96541e-07	9	97				
TAS1R2	80834	broad.mit.edu	37	1	19166909	19166909	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:19166909A>T	ENST00000375371.3	-	6	1725	c.1704T>A	c.(1702-1704)gcT>gcA	p.A568A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	568					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A568A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCAGGGCCACAGCGATGGTGG	0.632																																							uc001bba.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1702-1704)GCT>GCA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						50.0	51.0	51.0					1																	19166909		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166909A>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1704T>A	1.37:g.19166909A>T							p.A568A	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1705	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	568			Helical; Name=1; (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1704T>A	CCDS187.1																																																																																				0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			13	95	0	0	0	0.003163	0	13	95				
EIF4G3	8672	broad.mit.edu	37	1	21191656	21191656	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:21191656C>G	ENST00000264211.8	-	15	2748	c.2554G>C	c.(2554-2556)Gat>Cat	p.D852H	EIF4G3_ENST00000536266.1_Missense_Mutation_p.D456H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D342H|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D858H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D852H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D572H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D858H	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	852	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D858H(1)|p.D858Y(1)|p.D852H(1)|p.D852Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGACATCATCATCTGCTTTA	0.428																																							uc001bec.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(2554-2556)GAT>CAT		eukaryotic translation initiation factor 4							200.0	181.0	187.0					1																	21191656		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21191656C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2554G>C	1.37:g.21191656C>G	ENSP00000264211:p.Asp852His					EIF4G3_uc010odi.1_Missense_Mutation_p.D456H|EIF4G3_uc010odj.1_Missense_Mutation_p.D851H|EIF4G3_uc009vpz.2_Missense_Mutation_p.D572H|EIF4G3_uc001bed.2_Missense_Mutation_p.D852H|EIF4G3_uc001bef.2_Missense_Mutation_p.D888H|EIF4G3_uc001bee.2_Missense_Mutation_p.D858H	p.D852H	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	16	2810	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	852			eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2554G>C	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097694	0.94197	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.55	5.55	0.83447	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.096141	0.64402	D	0.000001	T	0.53077	0.1774	M	0.82630	2.6	0.80722	D	1	D;P;P;D;D	0.89917	1.0;0.559;0.503;1.0;0.995	D;P;B;D;D	0.97110	1.0;0.665;0.384;1.0;0.95	T	0.57499	-0.7801	10	0.72032	D	0.01	-16.995	19.5066	0.95118	0.0:1.0:0.0:0.0	.	1047;572;456;858;852	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	852;1048;852;572;342;858;456	ENSP00000264211:D852H;ENSP00000383274:D852H;ENSP00000364071:D572H;ENSP00000442010:D342H;ENSP00000364073:D858H;ENSP00000444693:D456H	ENSP00000264211:D852H	D	-	1	0	EIF4G3	21064243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.628000	0.89032	0.650000	0.86243	GAT		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		7	139	0	0	0	0.004482	0	7	139				
STPG1	90529	broad.mit.edu	37	1	24700270	24700270	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:24700270T>A	ENST00000374409.1	-	6	747	c.493A>T	c.(493-495)Aac>Tac	p.N165Y	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.N118Y|STPG1_ENST00000440416.1_Missense_Mutation_p.N118Y|STPG1_ENST00000337248.4_Missense_Mutation_p.N165Y	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	165					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N118Y(1)|p.N165Y(1)									GTACAGACGTTGTTTCTCTGC	0.488																																							uc001bjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(493-495)AAC>TAC		RecName: Full=UPF0490 protein C1orf201;							175.0	183.0	180.0					1																	24700270		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24700270T>A	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.493A>T	1.37:g.24700270T>A	ENSP00000363530:p.Asn165Tyr					C1orf201_uc010oej.1_5'UTR|C1orf201_uc001bja.2_Missense_Mutation_p.N118Y|C1orf201_uc001bjb.2_Missense_Mutation_p.N73Y|C1orf201_uc001bjd.2_Missense_Mutation_p.N165Y|C1orf201_uc001bje.1_Missense_Mutation_p.N118Y|C1orf201_uc001bjf.2_Missense_Mutation_p.N33Y	p.N165Y			Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	6	628	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	165					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.493A>T	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929174	0.52759	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000438866;ENST00000374404	.	.	.	5.81	4.68	0.58851	.	0.134693	0.48286	D	0.000198	T	0.67021	0.2849	M	0.74881	2.28	0.33481	D	0.58743	D;D	0.76494	0.999;0.997	D;D	0.65573	0.936;0.924	T	0.76748	-0.2845	9	0.56958	D	0.05	.	8.8878	0.35414	0.0:0.0865:0.0:0.9135	.	165;118	Q5TH74;Q5TH74-3	CA201_HUMAN;.	Y	165;118;118;165;68;69	.	ENSP00000003583:N118Y	N	-	1	0	C1orf201	24572857	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	2.495000	0.45337	2.216000	0.71823	0.533000	0.62120	AAC		0.488	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		63	394	0	0	0	0.00361	0	63	394				
CATSPER4	378807	broad.mit.edu	37	1	26526438	26526438	+	Silent	SNP	C	C	A	rs569953962		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:26526438C>A	ENST00000456354.2	+	7	943	c.876C>A	c.(874-876)acC>acA	p.T292T		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	292					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.T292T(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCATCACCATCGGTGCCT	0.522																																							uc010oez.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(874-876)ACC>ACA		cation channel, sperm associated 4							149.0	99.0	116.0					1																	26526438		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26526438C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.876C>A	1.37:g.26526438C>A						CATSPER4_uc010oey.1_Silent_p.T114T|CATSPER4_uc009vsf.2_RNA	p.T292T	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	7	876	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	292			Helical; Name=Segment S6; (Potential).		A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.876C>A	CCDS30645.1																																																																																				0.522	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		17	33	1	0	2.35188e-11	0.006122	3.54132e-11	17	33				
ARID1A	8289	broad.mit.edu	37	1	27105667	27105667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27105667G>T	ENST00000324856.7	+	20	5649	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1543*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E88*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1377*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1760					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1760*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTCCCATGGAGGGTGGGGA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Nonsense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5278-5280)GAG>TAG		AT rich interactive domain 1A isoform a							71.0	75.0	73.0					1																	27105667		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105667G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5278G>T	1.37:g.27105667G>T	ENSP00000320485:p.Glu1760*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1543*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E606*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E88*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E2*	p.E1760*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5651	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1760					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5278G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.236887|9.236887	0.99110|0.99110	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.364946|.	0.30781|.	N|.	0.008891|.	.|T	.|0.74344	.|0.3704	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72616	.|-0.4239	.|4	0.13108|.	T|.	0.6|.	-14.5905|-14.5905	18.5783|18.5783	0.91163|0.91163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1760;1543;1377;88|656	.|.	ENSP00000320485:E1760X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26978254|26978254	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.902000|0.902000	0.53008|0.53008	6.076000|6.076000	0.71267|0.71267	2.791000|2.791000	0.96007|0.96007	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		34	134	1	0	4.4194e-11	0.002836	6.58394e-11	34	134				
FAM46B	115572	broad.mit.edu	37	1	27332971	27332971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27332971C>T	ENST00000289166.5	-	2	907	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	248								p.E247K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TACAGGCTTTCGCCTGTGACC	0.622																																							uc010ofj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(742-744)GAA>AAA		hypothetical protein LOC115572							48.0	53.0	51.0					1																	27332971		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27332971C>T	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.742G>A	1.37:g.27332971C>T	ENSP00000289166:p.Glu248Lys						p.E248K	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	914	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	248						Missense_Mutation	SNP	ENST00000289166.5	37	c.742G>A	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878710	0.72294	.	.	ENSG00000158246	ENST00000289166	T	0.36878	1.23	5.05	5.05	0.67936	Domain of unknown function DUF1693 (1);	0.046198	0.85682	N	0.000000	T	0.69169	0.3081	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77189	-0.2679	10	0.87932	D	0	-30.4617	18.5889	0.91202	0.0:1.0:0.0:0.0	.	248	Q96A09	FA46B_HUMAN	K	248	ENSP00000289166:E248K	ENSP00000289166:E248K	E	-	1	0	FAM46B	27205558	1.000000	0.71417	0.951000	0.38953	0.072000	0.16883	7.647000	0.83462	2.617000	0.88574	0.561000	0.74099	GAA		0.622	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		5	70	0	0	0	0.001984	0	5	70				
KPNA6	23633	broad.mit.edu	37	1	32626214	32626214	+	Splice_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:32626214A>T	ENST00000373625.3	+	7	651		c.e7-1		KPNA6_ENST00000545542.1_Splice_Site|KPNA6_ENST00000469790.1_Splice_Site|KPNA6_ENST00000537234.1_Splice_Site	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)						maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.?(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCCCTTTTCAGGCAGTCTGG	0.443																																							uc001bug.2		NA																	1	Unknown(1)		lung(1)		0						c.e7-2		karyopherin alpha 6							187.0	145.0	159.0					1																	32626214		2203	4300	6503	SO:0001630	splice_region_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32626214A>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.559-1A>T	1.37:g.32626214A>T						KPNA6_uc001buh.2_Intron|KPNA6_uc010ogx.1_Splice_Site_p.A184_splice|KPNA6_uc010ogy.1_Splice_Site_p.A192_splice|KPNA6_uc009vtz.2_Splice_Site_p.A82_splice	p.A187_splice	NM_012316	NP_036448	O60684	IMA7_HUMAN			7	647	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)						B2RDC7|D3DPP5|Q5VVU3	Splice_Site	SNP	ENST00000373625.3	37	c.559_splice	CCDS352.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703947	0.88924	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0501	0.80755	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KPNA6	32398801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.254000	0.74563	0.460000	0.39030	.		0.443	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	Intron	26	97	0	0	0	0.005443	0	26	97				
AK2	204	broad.mit.edu	37	1	33480187	33480187	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:33480187T>A	ENST00000373449.2	-	5	475	c.434A>T	c.(433-435)cAc>cTc	p.H145L	AK2_ENST00000548033.1_Missense_Mutation_p.H103L|AK2_ENST00000354858.6_Missense_Mutation_p.H145L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Silent_p.S113S|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Missense_Mutation_p.H145L	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2									p.H145L(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTCTTGGGGTGAATCAGCCT	0.463																																							uc001bwp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(433-435)CAC>CTC		adenylate kinase 2 isoform a							166.0	175.0	172.0					1																	33480187		2203	4300	6503	SO:0001583	missense	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33480187T>A	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.434A>T	1.37:g.33480187T>A	ENSP00000362548:p.His145Leu					uc001bwn.2_Intron|AK2_uc001bwo.1_Missense_Mutation_p.H145L|AK2_uc010ohq.1_Missense_Mutation_p.H137L|AK2_uc009vud.1_Missense_Mutation_p.H103L|AK2_uc010ohr.1_Missense_Mutation_p.H97L|AK2_uc001bwq.1_Missense_Mutation_p.H97L	p.H145L	NM_001625	NP_001616	P54819	KAD2_HUMAN			5	476	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	145						Missense_Mutation	SNP	ENST00000373449.2	37	c.434A>T	CCDS373.1	.	.	.	.	.	.	.	.	.	.	T	31	5.099503	0.94197	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.3	5.3	0.74995	Adenylate kinase, active site lid domain (1);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.98951	4.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.95703	0.8751	10	0.72032	D	0.01	-20.3722	15.9619	0.79936	0.0:0.0:0.0:1.0	.	137;103;145;145	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	L	145;103;145;145;145	ENSP00000362548:H145L;ENSP00000449003:H103L;ENSP00000447082:H145L;ENSP00000346921:H145L	ENSP00000346921:H145L	H	-	2	0	AK2	33252774	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.008000	0.88588	2.308000	0.77769	0.533000	0.62120	CAC		0.463	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		76	263	0	0	0	0.00361	0	76	263				
C1orf94	84970	broad.mit.edu	37	1	34667733	34667733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:34667733G>T	ENST00000488417.1	+	4	1439	c.1319G>T	c.(1318-1320)gGg>gTg	p.G440V	C1orf94_ENST00000373374.3_Missense_Mutation_p.G250V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	440								p.G250V(1)|p.G440V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGTACACAGGGAATGTTTTC	0.542																																							uc001bxs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(748-750)GGG>GTG		hypothetical protein LOC84970 isoform b							224.0	183.0	197.0					1																	34667733		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34667733G>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1319G>T	1.37:g.34667733G>T	ENSP00000435634:p.Gly440Val					C1orf94_uc001bxt.2_Missense_Mutation_p.G440V	p.G250V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			4	1148	+		Myeloproliferative disorder(586;0.0393)	250					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.749G>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699484	0.68501	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.53857	0.6;0.6	5.71	5.71	0.89125	.	0.093371	0.46758	D	0.000270	T	0.72447	0.3461	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74768	-0.3553	10	0.72032	D	0.01	-9.6288	15.3446	0.74327	0.0:0.0:1.0:0.0	.	440	Q6P1W5	CA094_HUMAN	V	250;440	ENSP00000362472:G250V;ENSP00000435634:G440V	ENSP00000362472:G250V	G	+	2	0	C1orf94	34440320	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.209000	0.65208	2.695000	0.91970	0.462000	0.41574	GGG		0.542	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		7	90	1	0	0.00307968	0.00308	0.00327966	7	90				
DLGAP3	58512	broad.mit.edu	37	1	35370074	35370074	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:35370074C>A	ENST00000373347.1	-	3	1179	c.911G>T	c.(910-912)cGc>cTc	p.R304L	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.R304L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	304					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.R304L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCCGCCCGAGCGCCCCTTGAA	0.657																																							uc001byc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(910-912)CGC>CTC		discs, large (Drosophila) homolog-associated							44.0	48.0	46.0					1																	35370074		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370074C>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.911G>T	1.37:g.35370074C>A	ENSP00000362444:p.Arg304Leu						p.R304L	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			1	911	-		Myeloproliferative disorder(586;0.0393)	304					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.911G>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090766	0.36855	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26518	1.73;1.73	4.49	3.5	0.40072	.	0.192506	0.45867	D	0.000336	T	0.07413	0.0187	N	0.00538	-1.39	0.29049	N	0.884636	B	0.02656	0.0	B	0.01281	0.0	T	0.11891	-1.0569	10	0.41790	T	0.15	-11.1682	10.2913	0.43596	0.3873:0.6127:0.0:0.0	.	304	O95886	DLGP3_HUMAN	L	304	ENSP00000362444:R304L;ENSP00000235180:R304L	ENSP00000235180:R304L	R	-	2	0	DLGAP3	35142661	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.938000	0.56583	2.492000	0.84095	0.655000	0.94253	CGC		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		9	133	1	0	0.000274275	0.004482	0.000306341	9	133				
GRIK3	2899	broad.mit.edu	37	1	37267485	37267485	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:37267485G>T	ENST00000373091.3	-	16	2743	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	909					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A909A(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATGTGCTGCAGGCCATGCTGT	0.592																																							uc001caz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2725-2727)GCC>GCA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						96.0	77.0	84.0					1																	37267485		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37267485G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2727C>A	1.37:g.37267485G>T							p.A909A	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			16	2862	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	909			Cytoplasmic (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2727C>A	CCDS416.1																																																																																				0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		13	85	1	0	4.14922e-12	0.004007	6.38441e-12	13	85				
GRIK3	2899	broad.mit.edu	37	1	37291209	37291209	+	Silent	SNP	G	G	A	rs138685291	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:37291209G>A	ENST00000373091.3	-	11	1765	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	GRIK3_ENST00000373093.4_Silent_p.I583I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	583					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.I583I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTTACCTGGCGATGACGAAGA	0.582													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		21207	0.0		0.0	False		,,,				2504	0.0						uc001caz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1747-1749)ATC>ATT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	G		2,4404	4.2+/-10.8	0,2,2201	65.0	62.0	63.0		1749	-3.6	1.0	1	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	GRIK3	NM_000831.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		583/920	37291209	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37291209G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1749C>T	1.37:g.37291209G>A						GRIK3_uc001cba.1_Silent_p.I583I	p.I583I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			11	1884	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	583			Helical; (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1749C>T	CCDS416.1																																																																																				0.582	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		15	24	0	0	0	0.00499	0	15	24				
GNL2	29889	broad.mit.edu	37	1	38034454	38034454	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:38034454G>A	ENST00000373062.3	-	13	1964	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	622					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.V622V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AATATTACCTGACTGCTGAAA	0.378																																							uc001cbk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1864-1866)GTC>GTT		guanine nucleotide binding protein-like 2							184.0	180.0	181.0					1																	38034454		2203	4300	6503	SO:0001819	synonymous_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38034454G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1866C>T	1.37:g.38034454G>A							p.V622V	NM_013285	NP_037417	Q13823	NOG2_HUMAN			13	2029	-		Myeloproliferative disorder(586;0.0393)	622					Q9BWN7	Silent	SNP	ENST00000373062.3	37	c.1866C>T	CCDS421.1																																																																																				0.378	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		37	362	0	0	0	0.004878	0	37	362				
GJA9	81025	broad.mit.edu	37	1	39340852	39340853	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:39340852_39340853GG>AA	ENST00000360786.3	-	1	1170_1171	c.918_919CC>TT	c.(916-921)ttCCag>ttTTag	p.Q307*	MYCBP_ENST00000397572.2_5'Flank|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Nonsense_Mutation_p.Q307*|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Nonsense_Mutation_p.Q307*|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	307					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.Q307*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GGATTTGGCTGGAATACAGAAG	0.381																																							uc001cct.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(916-921)TTCCAG>TTTTAG		gap junction protein, alpha 9, 59kDa																																				SO:0001587	stop_gained	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340852_39340853GG>AA	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.918_919delinsAA	1.37:g.39340852_39340853delinsAA	ENSP00000354020:p.Gln307*					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.Q307*	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1199_1200	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	307			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	DNP	ENST00000360786.3	37	c.918_919CC>TT	CCDS432.1																																																																																				0.381	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		7	141	0	0	0	0.004672	0	7	141				
MACF1	23499	broad.mit.edu	37	1	39888557	39888557	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:39888557G>A	ENST00000372915.3	+	59	16236	c.16149G>A	c.(16147-16149)caG>caA	p.Q5383Q	MACF1_ENST00000567887.1_Silent_p.Q5415Q|MACF1_ENST00000289893.4_Silent_p.Q3818Q|MACF1_ENST00000564288.1_Silent_p.Q5378Q|MACF1_ENST00000545844.1_Silent_p.Q3316Q|MACF1_ENST00000539005.1_Silent_p.Q3295Q|MACF1_ENST00000317713.7_Silent_p.Q3316Q|MACF1_ENST00000361689.2_Silent_p.Q3316Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5383					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q3818Q(1)|p.Q3316Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAAGCACAGATCCAAGAAC	0.453																																							uc010oiu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11452-11454)CAG>CAA		microfilament and actin filament cross-linker							66.0	66.0	66.0					1																	39888557		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888557G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16149G>A	1.37:g.39888557G>A						MACF1_uc010ois.1_Silent_p.Q3316Q|MACF1_uc001cda.1_Silent_p.Q3203Q|MACF1_uc001cdc.1_Silent_p.Q2382Q	p.Q3818Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		24	11585	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5383			Spectrin 7.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.11454G>A		.	.	.	.	.	.	.	.	.	.	G	7.592	0.670962	0.14776	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59669	-0.7411	4	.	.	.	.	10.7102	0.45980	0.1409:0.0:0.8591:0.0	.	.	.	.	N	2429	.	.	D	+	1	0	MACF1	39661144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.710000	0.61873	2.823000	0.97156	0.650000	0.86243	GAT		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	59	0	0	0	0.009096	0	4	59				
CCDC30	728621	broad.mit.edu	37	1	43111812	43111812	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43111812A>T	ENST00000340612.4	+	13	1897	c.1897A>T	c.(1897-1899)Aag>Tag	p.K633*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.K422*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.K633*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.K422*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.K633*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	633						extracellular vesicular exosome (GO:0070062)		p.K633*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTAGAATCTTAAGGAGTttcc	0.363																																							uc009vwk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1897-1899)AAG>TAG		coiled-coil domain containing 30							29.0	31.0	30.0					1																	43111812		2203	4298	6501	SO:0001587	stop_gained	728621							g.chr1:43111812A>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1897A>T	1.37:g.43111812A>T	ENSP00000340378:p.Lys633*					CCDC30_uc001chm.2_Nonsense_Mutation_p.K331*|CCDC30_uc001chn.2_Nonsense_Mutation_p.K422*	p.K633*	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			14	2007	+			633					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.1897A>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775259	0.49786	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	1.53	1.53	0.23141	.	1.999420	0.03518	U	0.220619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	5.1581	0.15046	1.0:0.0:0.0:0.0	.	.	.	.	X	633;422;633;633;422	.	ENSP00000340378:K633X	K	+	1	0	CCDC30	42884399	0.964000	0.33143	0.654000	0.29608	0.218000	0.24690	1.797000	0.38804	0.960000	0.38005	0.383000	0.25322	AAG		0.363	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		5	14	0	0	0	0.001168	0	5	14				
EBNA1BP2	10969	broad.mit.edu	37	1	43637203	43637203	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43637203G>A	ENST00000236051.2	-	3	411	c.270C>T	c.(268-270)aaC>aaT	p.N90N	EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.N145N|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	90					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N90N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGGTCCTTGTTCTGAGGTG	0.507																																							uc001cin.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)AAC>AAT		EBNA1 binding protein 2 isoform 2							155.0	151.0	152.0					1																	43637203		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43637203G>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.270C>T	1.37:g.43637203G>A						EBNA1BP2_uc001cio.2_Silent_p.N145N|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'UTR|EBNA1BP2_uc010ojx.1_Silent_p.N145N	p.N90N	NM_006824	NP_006815	Q99848	EBP2_HUMAN			3	467	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	90					Q96A66	Silent	SNP	ENST00000236051.2	37	c.270C>T	CCDS478.1																																																																																				0.507	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			54	305	0	0	0	0.00361	0	54	305				
MPL	4352	broad.mit.edu	37	1	43803815	43803815	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43803815C>A	ENST00000372470.3	+	2	167	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	MPL_ENST00000413998.2_Missense_Mutation_p.S42Y	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	42					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.S42Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	AAGTGTTTCTCCCGAACATTT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(124-126)TCC>TAC		myeloproliferative leukemia virus oncogene							86.0	83.0	84.0					1																	43803815		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43803815C>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.125C>A	1.37:g.43803815C>A	ENSP00000361548:p.Ser42Tyr					MPL_uc001civ.2_Missense_Mutation_p.S42Y|MPL_uc009vwr.2_Missense_Mutation_p.S35Y	p.S42Y	NM_005373	NP_005364	P40238	TPOR_HUMAN			2	170	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	42			Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.125C>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066317	0.76187	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.85702	-2.02;-2.02	5.76	5.76	0.90799	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.050117	0.85682	D	0.000000	D	0.91348	0.7271	M	0.68317	2.08	0.42468	D	0.992812	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.91956	0.5575	10	0.87932	D	0	-20.7829	15.4632	0.75377	0.0:1.0:0.0:0.0	.	35;42;42	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	Y	42	ENSP00000361548:S42Y;ENSP00000414004:S42Y	ENSP00000361546:S42Y	S	+	2	0	MPL	43576402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.723000	0.93209	0.650000	0.86243	TCC		0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		11	98	1	0	0.000673444	0.008291	0.000736708	11	98				
IPO13	9670	broad.mit.edu	37	1	44429990	44429990	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:44429990A>C	ENST00000372343.3	+	15	3056	c.2394A>C	c.(2392-2394)gcA>gcC	p.A798A	IPO13_ENST00000372339.3_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	798					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A798A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AACTCCTGGCACAGGTGTGTT	0.328																																							uc001ckx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2392-2394)GCA>GCC		importin 13							187.0	180.0	183.0					1																	44429990		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44429990A>C	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2394A>C	1.37:g.44429990A>C						IPO13_uc001cky.2_5'Flank	p.A798A	NM_014652	NP_055467	O94829	IPO13_HUMAN			15	3189	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	798			HEAT 14.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.2394A>C	CCDS503.1																																																																																				0.328	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		33	186	0	0	0	0.002836	0	33	186				
DMRTB1	63948	broad.mit.edu	37	1	53925146	53925146	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:53925146G>T	ENST00000371445.3	+	1	75	c.20G>T	c.(19-21)cGc>cTc	p.R7L		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	7					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R7L(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AAAATGGTGCGCACCCCCAAG	0.627																																							uc001cvq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(19-21)CGC>CTC		DMRT-like family B with proline-rich C-terminal,							50.0	43.0	46.0					1																	53925146		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925146G>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.20G>T	1.37:g.53925146G>T	ENSP00000360500:p.Arg7Leu						p.R7L	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			1	75	+			7					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.20G>T	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447492	0.84101	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.66	4.66	0.58398	DM DNA-binding (4);	0.087235	0.48767	D	0.000169	D	0.87346	0.6154	H	0.95470	3.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91486	0.5208	9	0.87932	D	0	-34.137	17.7398	0.88404	0.0:0.0:1.0:0.0	.	7	Q96MA1	DMRTB_HUMAN	L	7	.	ENSP00000360500:R7L	R	+	2	0	DMRTB1	53697734	1.000000	0.71417	0.990000	0.47175	0.469000	0.32828	9.515000	0.98015	2.394000	0.81467	0.655000	0.94253	CGC		0.627	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			7	41	1	0	0.000442599	0.006214	0.000490172	7	41				
DMRTB1	63948	broad.mit.edu	37	1	53932273	53932273	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:53932273C>A	ENST00000371445.3	+	4	1022	c.967C>A	c.(967-969)Cag>Aag	p.Q323K		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	323					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q323K(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CACAGATGACCAGGATGCAGA	0.498																																							uc001cvq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(967-969)CAG>AAG		DMRT-like family B with proline-rich C-terminal,							163.0	177.0	172.0					1																	53932273		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53932273C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.967C>A	1.37:g.53932273C>A	ENSP00000360500:p.Gln323Lys						p.Q323K	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			4	1022	+			323					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.967C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145173	0.37825	.	.	ENSG00000143006	ENST00000371445	T	0.32272	1.46	4.93	3.06	0.35304	.	2.607620	0.01217	N	0.007994	T	0.31009	0.0783	M	0.62723	1.935	0.09310	N	1	P	0.43477	0.808	B	0.33960	0.173	T	0.36504	-0.9745	10	0.59425	D	0.04	-11.9653	6.5994	0.22693	0.0:0.7918:0.0:0.2082	.	323	Q96MA1	DMRTB_HUMAN	K	323	ENSP00000360500:Q323K	ENSP00000360500:Q323K	Q	+	1	0	DMRTB1	53704861	0.022000	0.18835	0.050000	0.19076	0.166000	0.22503	0.999000	0.29757	1.435000	0.47434	0.561000	0.74099	CAG		0.498	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			95	393	1	0	4.94401e-75	0.00361	9.88801e-75	95	393				
HSPB11	51668	broad.mit.edu	37	1	54405720	54405720	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:54405720C>A	ENST00000194214.5	-	2	425	c.36G>T	c.(34-36)ggG>ggT	p.G12G	HSPB11_ENST00000371376.1_Silent_p.G12G|HSPB11_ENST00000371377.3_Silent_p.G12G|HSPB11_ENST00000371378.2_Silent_p.G12G	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	12					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.G12G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCACTTCGGACCCTTCAGAGC	0.318																																							uc001cwh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GGG>GGT		heat shock protein family B (small), member 11							134.0	121.0	125.0					1																	54405720		1818	4078	5896	SO:0001819	synonymous_variant	51668				cell adhesion|response to stress			g.chr1:54405720C>A	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.36G>T	1.37:g.54405720C>A						HSPB11_uc001cwi.1_Silent_p.G12G	p.G12G	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN			2	112	-			12					A6NG57|D3DQ45|Q9Y684	Silent	SNP	ENST00000194214.5	37	c.36G>T	CCDS41341.1																																																																																				0.318	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		6	80	1	0	0.00307968	0.00308	0.00327966	6	80				
CDCP2	200008	broad.mit.edu	37	1	54610303	54610303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:54610303A>T	ENST00000371330.1	-	2	1110	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	88	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.L88Q(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGATCTCCAGAAAGTCGAA	0.612																																							uc001cwv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)CTG>CAG		CUB domain containing protein 2 precursor							90.0	84.0	86.0					1																	54610303		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54610303A>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.263T>A	1.37:g.54610303A>T	ENSP00000360381:p.Leu88Gln						p.L88Q	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			2	1111	-			88			CUB 1.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.263T>A	CCDS588.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753068	0.89753	.	.	ENSG00000157211	ENST00000371330	T	0.47869	0.83	5.36	5.36	0.76844	CUB (5);	0.087564	0.47852	D	0.000213	T	0.76392	0.3981	M	0.93283	3.4	0.53005	D	0.999961	D	0.89917	1.0	D	0.79108	0.992	D	0.83537	0.0094	10	0.87932	D	0	-13.2632	15.3605	0.74469	1.0:0.0:0.0:0.0	.	88	Q5VXM1	CDCP2_HUMAN	Q	88	ENSP00000360381:L88Q	ENSP00000360381:L88Q	L	-	2	0	CDCP2	54382891	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.335000	0.96500	2.029000	0.59856	0.482000	0.46254	CTG		0.612	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		7	68	0	0	0	0.004482	0	7	68				
BSND	7809	broad.mit.edu	37	1	55464866	55464866	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:55464866G>T	ENST00000371265.4	+	1	261	c.7G>T	c.(7-9)Gac>Tac	p.D3Y		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	3					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.D3Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCATGGCTGACGAGAAGAC	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)	Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(7-9)GAC>TAC		barttin							84.0	82.0	83.0					1																	55464866		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55464866G>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.7G>T	1.37:g.55464866G>T	ENSP00000360312:p.Asp3Tyr						p.D3Y	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			1	250	+			3			Cytoplasmic (Potential).		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.7G>T	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897882	0.72639	.	.	ENSG00000162399	ENST00000371265	D	0.89746	-2.56	4.19	4.19	0.49359	.	0.218384	0.29737	N	0.011327	D	0.92619	0.7655	M	0.68317	2.08	0.45366	D	0.998358	D	0.69078	0.997	D	0.63192	0.912	D	0.93566	0.6899	10	0.87932	D	0	-7.7061	14.6561	0.68833	0.0:0.0:1.0:0.0	.	3	Q8WZ55	BSND_HUMAN	Y	3	ENSP00000360312:D3Y	ENSP00000360312:D3Y	D	+	1	0	BSND	55237454	1.000000	0.71417	0.580000	0.28601	0.972000	0.66771	8.580000	0.90784	2.060000	0.61445	0.491000	0.48974	GAC		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		8	69	1	0	1.08611e-07	0.000978	1.42024e-07	8	69				
C8B	732	broad.mit.edu	37	1	57411562	57411562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:57411562G>T	ENST00000371237.4	-	7	1103	c.1037C>A	c.(1036-1038)aCa>aAa	p.T346K	C8B_ENST00000535057.1_Missense_Mutation_p.T284K|C8B_ENST00000543257.1_Missense_Mutation_p.T294K	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	346	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.T346K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CACAGCCTCTGTGATGTAGTG	0.507																																							uc001cyp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1036-1038)ACA>AAA		complement component 8, beta polypeptide							85.0	82.0	83.0					1																	57411562		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411562G>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1037C>A	1.37:g.57411562G>T	ENSP00000360281:p.Thr346Lys					C8B_uc010oon.1_Missense_Mutation_p.T284K|C8B_uc010ooo.1_Missense_Mutation_p.T294K	p.T346K	NM_000066	NP_000057	P07358	CO8B_HUMAN			7	1104	-			346			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1037C>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468193	0.43839	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.86030	-2.06;-2.06;-2.06	4.71	4.71	0.59529	Membrane attack complex component/perforin (MACPF) domain (3);	0.100124	0.64402	D	0.000002	D	0.83608	0.5291	M	0.70842	2.15	0.54753	D	0.999984	B;B;B	0.20550	0.021;0.021;0.046	B;B;B	0.22601	0.013;0.013;0.04	T	0.79718	-0.1686	10	0.27082	T	0.32	-11.7821	14.3599	0.66764	0.0:0.0:0.8517:0.1483	.	294;284;346	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	K	346;294;284	ENSP00000360281:T346K;ENSP00000442548:T294K;ENSP00000440113:T284K	ENSP00000360281:T346K	T	-	2	0	C8B	57184150	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	4.156000	0.58138	2.438000	0.82558	0.655000	0.94253	ACA		0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			13	67	1	0	2.61681e-11	0.00245	3.92822e-11	13	67				
HOOK1	51361	broad.mit.edu	37	1	60328550	60328550	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:60328550G>T	ENST00000371208.3	+	16	1883		c.e16+1		HOOK1_ENST00000465876.1_Splice_Site|HOOK1_ENST00000395561.2_Splice_Site	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.?(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGGCGAAAGTGTAAGTAACTT	0.373																																							uc009wad.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e17+1		hook homolog 1							72.0	76.0	75.0					1																	60328550		2203	4300	6503	SO:0001630	splice_region_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60328550G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1626+1G>T	1.37:g.60328550G>T						HOOK1_uc001czo.2_Splice_Site_p.S542_splice|HOOK1_uc001czp.2_Splice_Site|HOOK1_uc010oor.1_Splice_Site_p.S500_splice	p.S542_splice	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			17	1728	+	all_cancers(7;0.000129)							A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Splice_Site	SNP	ENST00000371208.3	37	c.1626_splice	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884752	0.72410	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0534	0.97636	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HOOK1	60101138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.836000	0.48183	2.807000	0.96579	0.650000	0.86243	.		0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	Intron	9	61	1	0	1.12685e-05	0.004482	1.34403e-05	9	61				
INADL	10207	broad.mit.edu	37	1	62582842	62582842	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:62582842C>G	ENST00000371158.2	+	37	4956	c.4842C>G	c.(4840-4842)ctC>ctG	p.L1614L	INADL_ENST00000543708.1_Silent_p.L428L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1614	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L1614L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGGAAGACTCCGAGCTGGTT	0.473																																							uc001dab.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(4840-4842)CTC>CTG		InaD-like							87.0	80.0	82.0					1																	62582842		1915	4135	6050	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62582842C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4842C>G	1.37:g.62582842C>G						INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.L428L|INADL_uc009wag.2_Silent_p.L398L	p.L1614L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			37	4956	+			1614			PDZ 9.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.4842C>G	CCDS617.2																																																																																				0.473	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		9	52	0	0	0	0.001368	0	9	52				
CACHD1	57685	broad.mit.edu	37	1	65157120	65157120	+	Missense_Mutation	SNP	C	C	A	rs72673394	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:65157120C>A	ENST00000371073.2	+	27	3701	c.3701C>A	c.(3700-3702)cCc>cAc	p.P1234H	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P1183H			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1234					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.P1183H(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGATACCCCCCCTCAGACT	0.552																																							uc001dbo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3547-3549)CCC>CAC		cache domain containing 1							162.0	134.0	143.0					1																	65157120		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65157120C>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3701C>A	1.37:g.65157120C>A	ENSP00000360113:p.Pro1234His					CACHD1_uc001dbp.1_Missense_Mutation_p.P938H|CACHD1_uc001dbq.1_Missense_Mutation_p.P938H|CACHD1_uc010opa.1_Missense_Mutation_p.P427H	p.P1183H	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			27	3653	+			1234			Cytoplasmic (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3548C>A		.	.	.	.	.	.	.	.	.	.	C	16.65	3.182555	0.57800	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24908	1.83;1.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02546	-1.1143	10	0.38643	T	0.18	-19.6444	19.76	0.96311	0.0:1.0:0.0:0.0	.	1234	Q5VU97	CAHD1_HUMAN	H	1234;1183	ENSP00000360113:P1234H;ENSP00000290039:P1183H	ENSP00000290039:P1183H	P	+	2	0	CACHD1	64929708	1.000000	0.71417	0.948000	0.38648	0.018000	0.09664	7.431000	0.80335	2.666000	0.90696	0.655000	0.94253	CCC		0.552	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		15	81	1	0	0.000422831	0.004007	0.000470131	15	81				
IL23R	149233	broad.mit.edu	37	1	67705957	67705957	+	Silent	SNP	C	C	A	rs368291075		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:67705957C>A	ENST00000347310.5	+	9	1312	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	IL23R_ENST00000395227.1_Silent_p.R126R|AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	381			R -> Q (associated with IBD17; has a protective effect against Crohn disease and psoriasis; dbSNP:rs11209026). {ECO:0000269|PubMed:17068223, ECO:0000269|PubMed:17587057, ECO:0000269|PubMed:17804789, ECO:0000269|PubMed:18800148}.		defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.R381R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAGATCATTCCGAACTGGGTA	0.323																																							uc001ddo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1141-1143)CGA>AGA		interleukin 23 receptor precursor							163.0	145.0	151.0					1																	67705957		2203	4299	6502	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67705957C>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1141C>A	1.37:g.67705957C>A						IL23R_uc009waz.2_Silent_p.R178R|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_Intron|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Intron|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Silent_p.R127R|IL23R_uc010opn.1_Silent_p.R226R|IL23R_uc001ddr.2_Intron|IL23R_uc010opo.1_Silent_p.R240R|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Silent_p.R210R|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Silent_p.R178R|IL23R_uc010opt.1_Silent_p.R22R|IL23R_uc010opu.1_Silent_p.R77R|IL23R_uc010opv.1_Silent_p.R139R|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Silent_p.R22R|IL23R_uc010opy.1_Silent_p.R148R|IL23R_uc010opz.1_Silent_p.R22R|IL23R_uc010oqa.1_Silent_p.R22R|IL23R_uc010oqb.1_Silent_p.R210R|IL23R_uc010oqc.1_Silent_p.R97R|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_Intron|IL23R_uc010oqh.1_Silent_p.R22R|IL23R_uc001dds.2_Silent_p.R126R|IL23R_uc001ddt.2_Intron	p.R381R	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			9	1226	+			381			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1141C>A	CCDS637.1																																																																																				0.323	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		4	55	1	0	0.00909568	0.009096	0.00951132	4	55				
IL12RB2	3595	broad.mit.edu	37	1	67816660	67816660	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:67816660C>T	ENST00000262345.1	+	9	1786	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	IL12RB2_ENST00000541374.1_Silent_p.S382S|IL12RB2_ENST00000371000.1_Silent_p.S382S|IL12RB2_ENST00000544434.1_Silent_p.S382S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	382	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.S382S(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						GACACACCTCCTGGACCACAG	0.493																																							uc001ddu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1144-1146)TCC>TCT		interleukin 12 receptor, beta 2 precursor							136.0	118.0	124.0					1																	67816660		2203	4300	6503	SO:0001819	synonymous_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67816660C>T	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.1146C>T	1.37:g.67816660C>T						IL12RB2_uc010oqi.1_Silent_p.S382S|IL12RB2_uc010oqj.1_Silent_p.S382S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.S382S|IL12RB2_uc010oqm.1_Silent_p.S382S|IL12RB2_uc010oqn.1_RNA	p.S382S	NM_001559	NP_001550	Q99665	I12R2_HUMAN			9	1786	+			382			Fibronectin type-III 3.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.1146C>T	CCDS638.1																																																																																				0.493	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		8	65	0	0	0	0.006214	0	8	65				
LRRC53	100144878	broad.mit.edu	37	1	74957895	74957895	+	Intron	SNP	C	C	T	rs374334124		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:74957895C>T	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.R766C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R867C|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R880C			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.R766C(1)		NS(1)|breast(1)|lung(2)	4						ATTAAGAAGTCGTTTCGAATT	0.453																																							uc001dgf.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2296-2298)CGT>TGT		TNNI3 interacting kinase isoform b							197.0	200.0	199.0					1																	74957895		2203	4300	6503	SO:0001627	intron_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74957895C>T			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8836G>A	1.37:g.74957895C>T						TNNI3K_uc001dge.1_Missense_Mutation_p.R867C	p.R766C	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			23	2347	+			766						Missense_Mutation	SNP	ENST00000294635.4	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	C	22.4	4.281152	0.80692	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.75154	-0.91;-0.91;-0.9	5.91	5.01	0.66863	.	0.106321	0.64402	N	0.000003	T	0.52741	0.1753	L	0.34521	1.04	0.80722	D	1	B;B	0.21309	0.014;0.054	B;B	0.17098	0.003;0.017	T	0.58399	-0.7643	10	0.72032	D	0.01	.	14.8519	0.70303	0.0:0.9315:0.0:0.0685	.	766;867	Q59H18;Q59H18-1	TNI3K_HUMAN;.	C	867;867;766	ENSP00000450895:R867C;ENSP00000359928:R867C;ENSP00000322251:R766C	ENSP00000322251:R766C	R	+	1	0	RP11-653A5.2;AC093158.1	74730483	1.000000	0.71417	0.989000	0.46669	0.845000	0.48019	5.428000	0.66489	1.513000	0.48852	0.655000	0.94253	CGT		0.453	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			15	175	0	0	0	0.007413	0	15	175				
ACADM	34	broad.mit.edu	37	1	76205759	76205759	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:76205759A>T	ENST00000370841.4	+	7	1000	c.563A>T	c.(562-564)cAg>cTg	p.Q188L	ACADM_ENST00000420607.2_Missense_Mutation_p.Q192L|ACADM_ENST00000541113.1_Missense_Mutation_p.Q152L|ACADM_ENST00000370834.5_Missense_Mutation_p.Q221L|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	188					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.Q188L(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ATTAATGGTCAGAAGATGTGG	0.343																																							uc001dgw.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(562-564)CAG>CTG		medium-chain acyl-CoA dehydrogenase isoform a							101.0	106.0	104.0					1																	76205759		2203	4299	6502	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76205759A>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.563A>T	1.37:g.76205759A>T	ENSP00000359878:p.Gln188Leu					ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.Q102L|ACADM_uc009wbp.2_Missense_Mutation_p.Q192L|ACADM_uc009wbr.2_Missense_Mutation_p.Q221L|ACADM_uc010ore.1_Missense_Mutation_p.Q152L|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.Q102L|ACADM_uc010org.1_Missense_Mutation_p.Q58L	p.Q188L	NM_000016	NP_000007	P11310	ACADM_HUMAN			7	993	+			188					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.563A>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012041	0.75046	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.57	5.57	0.84162	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.74258	2.255	0.80722	D	1	P;B;P;P;P	0.39157	0.504;0.091;0.662;0.482;0.538	B;B;B;B;B	0.44044	0.148;0.066;0.439;0.15;0.234	D	0.95485	0.8564	10	0.72032	D	0.01	.	15.4029	0.74855	1.0:0.0:0.0:0.0	.	152;102;221;192;188	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	L	188;221;152;192	ENSP00000359878:Q188L;ENSP00000359871:Q221L;ENSP00000442324:Q152L;ENSP00000409612:Q192L	ENSP00000359871:Q221L	Q	+	2	0	ACADM	75978347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.125000	0.94402	2.104000	0.64026	0.528000	0.53228	CAG		0.343	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			18	83	0	0	0	0.010504	0	18	83				
RABGGTB	5876	broad.mit.edu	37	1	76254898	76254898	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:76254898G>A	ENST00000319942.3	+	3	237	c.166G>A	c.(166-168)Gta>Ata	p.V56I	RABGGTB_ENST00000535300.1_5'UTR|SNORD45B_ENST00000364617.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.V56I|RABGGTB_ENST00000496055.1_3'UTR|SNORD45C_ENST00000383893.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	56					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.V56I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGGTCTGACAGTAATGGATCT	0.363																																							uc001dgy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)GTA>ATA		RAB geranylgeranyltransferase, beta subunit							169.0	160.0	163.0					1																	76254898		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76254898G>A	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.166G>A	1.37:g.76254898G>A	ENSP00000317473:p.Val56Ile					RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.V10I|SNORD45B_uc009wbv.1_5'Flank	p.V56I	NM_004582	NP_004573	P53611	PGTB2_HUMAN			3	237	+			56			PFTB 1.		Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.166G>A	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925092	0.73213	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.44881	0.91;0.91	4.79	4.79	0.61399	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.058590	0.64402	D	0.000002	T	0.27027	0.0662	L	0.44542	1.39	0.80722	D	1	B;B	0.14438	0.01;0.002	B;B	0.17098	0.017;0.006	T	0.17471	-1.0368	10	0.87932	D	0	-17.8679	17.8214	0.88651	0.0:0.0:1.0:0.0	.	56;56	Q59GT6;P53611	.;PGTB2_HUMAN	I	56	ENSP00000317473:V56I;ENSP00000359862:V56I	ENSP00000317473:V56I	V	+	1	0	RABGGTB	76027486	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	9.441000	0.97557	2.197000	0.70478	0.563000	0.77884	GTA		0.363	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		32	108	0	0	0	0.004289	0	32	108				
LPHN2	23266	broad.mit.edu	37	1	82436173	82436173	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:82436173G>T	ENST00000370728.1	+	18	3542	c.2897G>T	c.(2896-2898)gGa>gTa	p.G966V	LPHN2_ENST00000370721.1_Missense_Mutation_p.G891V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G953V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G966V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G953V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G966V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.G953V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G966V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G966V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G966V|LPHN2_ENST00000370730.1_Missense_Mutation_p.G966V			O95490	LPHN2_HUMAN	latrophilin 2	966					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.G953V(1)|p.G966V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAGTGGTTGGAGTTTCAGCT	0.358																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2857-2859)GGA>GTA		latrophilin 2 precursor							97.0	98.0	98.0					1																	82436173		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436173G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2897G>T	1.37:g.82436173G>T	ENSP00000359763:p.Gly966Val					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G953V|LPHN2_uc001div.2_Missense_Mutation_p.G953V|LPHN2_uc009wcd.2_Missense_Mutation_p.G953V|LPHN2_uc001diw.2_Missense_Mutation_p.G537V|LPHN2_uc009wce.1_Missense_Mutation_p.G39V	p.G953V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	15	3039	+			966			Helical; Name=4; (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2858G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.721738|3.721738	0.68959|0.68959	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.36878	.|1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.73|5.73	5.73|5.73	0.89815|0.89815	.|GPCR, family 2-like (1);	.|0.055929	.|0.64402	.|D	.|0.000001	.|T	.|0.51227	.|0.1662	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.61697	.|0.983;0.979;0.989;0.99	.|D;P;D;D	.|0.67900	.|0.939;0.897;0.932;0.954	.|T	.|0.50206	.|-0.8855	.|10	.|0.66056	.|D	.|0.02	.|.	19.8974|19.8974	0.96972|0.96972	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|966;953;953;953	.|O95490;O95490-3;O95490-4;O95490-2	.|LPHN2_HUMAN;.;.;.	X|V	834|891;966;966;966;966;953;953;953;953;953;966;953;966;966	.|ENSP00000359756:G891V;ENSP00000359763:G966V;ENSP00000359765:G966V;ENSP00000359762:G966V;ENSP00000359760:G966V;ENSP00000359758:G953V;ENSP00000353006:G953V;ENSP00000359750:G953V;ENSP00000359748:G953V;ENSP00000322270:G953V;ENSP00000359752:G966V;ENSP00000378344:G953V;ENSP00000271029:G966V;ENSP00000337306:G966V	.|ENSP00000271029:G966V	E|G	+|+	1|2	0|0	LPHN2|LPHN2	82208761|82208761	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	7.896000|7.896000	0.87350|0.87350	2.715000|2.715000	0.92844|0.92844	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		14	59	1	0	3.41278e-10	0.00499	4.93125e-10	14	59				
LPHN2	23266	broad.mit.edu	37	1	82456310	82456310	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:82456310C>G	ENST00000370728.1	+	25	4506	c.3861C>G	c.(3859-3861)gtC>gtG	p.V1287V	LPHN2_ENST00000370721.1_Silent_p.V1212V|LPHN2_ENST00000359929.3_Silent_p.V1231V|LPHN2_ENST00000271029.4_Silent_p.V1259V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.V1289V|LPHN2_ENST00000370717.2_Silent_p.V1302V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Silent_p.V1231V|LPHN2_ENST00000370723.1_Silent_p.V1289V|LPHN2_ENST00000370727.1_Silent_p.V1259V|LPHN2_ENST00000335786.5_Silent_p.V1244V|LPHN2_ENST00000370725.1_Silent_p.V1302V|LPHN2_ENST00000370730.1_Silent_p.V1244V			O95490	LPHN2_HUMAN	latrophilin 2	1287					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.V1231V(1)|p.V1302V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTACCAGTCAAACCTGTGA	0.468																																							uc001dit.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3691-3693)GTC>GTG		latrophilin 2 precursor							104.0	93.0	96.0					1																	82456310		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456310C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3861C>G	1.37:g.82456310C>G						LPHN2_uc001dis.2_Silent_p.V211V|LPHN2_uc001diu.2_Silent_p.V1231V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Silent_p.V858V	p.V1231V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	3874	+			1287			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.3693C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.004|0.004	-2.346392|-2.346392	0.00219|0.00219	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420	.|.	.|.	.|.	5.78|5.78	2.79|2.79	0.32731|0.32731	.|.	.|.	.|.	.|.	.|.	T|.	0.45577|.	0.1349|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36696|.	-0.9737|.	4|.	.|.	.|.	.|.	.|.	10.3262|10.3262	0.43793|0.43793	0.0:0.6743:0.2562:0.0695|0.0:0.6743:0.2562:0.0695	.|.	.|.	.|.	.|.	E|X	299|1179	.|.	.|.	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82228898|82228898	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.055000|0.055000	0.15305|0.15305	1.870000|1.870000	0.39529|0.39529	0.316000|0.316000	0.23135|0.23135	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.468	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		5	58	0	0	0	0.001984	0	5	58				
SYDE2	84144	broad.mit.edu	37	1	85656358	85656358	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:85656358C>A	ENST00000341460.5	-	2	872	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	275					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.G275C(1)|p.G197C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGCTTATGACCTCTGAATTCA	0.363																																							uc009wcm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(823-825)GGT>TGT		synapse defective 1, Rho GTPase, homolog 2							177.0	170.0	172.0					1																	85656358		1852	4113	5965	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85656358C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.823G>T	1.37:g.85656358C>A	ENSP00000340594:p.Gly275Cys					SYDE2_uc001dku.3_Missense_Mutation_p.G275C	p.G275C	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	872	-			275					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.823G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591538	0.28357	.	.	ENSG00000097096	ENST00000341460	T	0.07114	3.22	5.65	2.48	0.30137	.	0.885835	0.10204	N	0.702969	T	0.09555	0.0235	M	0.63428	1.95	0.09310	N	1	D;D	0.63880	0.988;0.993	P;P	0.58873	0.635;0.847	T	0.17961	-1.0352	10	0.44086	T	0.13	.	9.6132	0.39676	0.0:0.7526:0.0:0.2474	.	275;275	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	C	275	ENSP00000340594:G275C	ENSP00000340594:G275C	G	-	1	0	SYDE2	85428946	0.939000	0.31865	0.028000	0.17463	0.884000	0.51177	1.347000	0.33975	0.345000	0.23873	0.655000	0.94253	GGT		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			36	181	1	0	1.59932e-28	0.007835	3.05283e-28	36	181				
GBP4	115361	broad.mit.edu	37	1	89654458	89654458	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:89654458T>G	ENST00000355754.6	-	8	1314	c.1217A>C	c.(1216-1218)aAg>aCg	p.K406T		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	406				IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K406T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AAAGTCTCCCTTCTTTTTCTC	0.448																																							uc001dnb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)AAG>ACG		guanylate binding protein 4							136.0	138.0	137.0					1																	89654458		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654458T>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1217A>C	1.37:g.89654458T>G	ENSP00000359490:p.Lys406Thr						p.K406T	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1333	-			406	IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889).				B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1217A>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541424	0.45280	.	.	ENSG00000162654	ENST00000355754	T	0.55930	0.49	4.73	2.23	0.28157	Guanylate-binding protein, C-terminal (3);	0.265846	0.37095	N	0.002243	T	0.54727	0.1876	M	0.93420	3.415	0.09310	N	1	D	0.53462	0.96	P	0.58130	0.833	T	0.51568	-0.8689	10	0.24483	T	0.36	.	5.3735	0.16152	0.1551:0.0884:0.0:0.7564	.	406	Q96PP9	GBP4_HUMAN	T	406	ENSP00000359490:K406T	ENSP00000359490:K406T	K	-	2	0	GBP4	89427046	0.049000	0.20398	0.006000	0.13384	0.032000	0.12392	1.448000	0.35112	0.323000	0.23307	0.533000	0.62120	AAG		0.448	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		19	252	0	0	0	0.007413	0	19	252				
GBP6	163351	broad.mit.edu	37	1	89849270	89849270	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:89849270G>C	ENST00000370456.4	+	9	1518	c.1425G>C	c.(1423-1425)ttG>ttC	p.L475F	GBP6_ENST00000535065.1_Missense_Mutation_p.L345F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	475					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L475F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AATCCATCTTGCAGTCAGATA	0.463																																							uc001dnf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1423-1425)TTG>TTC		guanylate binding protein family, member 6							100.0	101.0	101.0					1																	89849270		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89849270G>C	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1425G>C	1.37:g.89849270G>C	ENSP00000359485:p.Leu475Phe					GBP6_uc010ost.1_Missense_Mutation_p.L345F	p.L475F	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	9	1699	+		Lung NSC(277;0.0908)	475					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.1425G>C	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148745	0.37923	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.03094	4.05;4.05	5.29	1.61	0.23674	Guanylate-binding protein, C-terminal (3);	0.348033	0.22564	N	0.058439	T	0.03220	0.0094	M	0.88906	2.99	0.27329	N	0.95681	B	0.30914	0.3	B	0.35655	0.207	T	0.18398	-1.0338	10	0.66056	D	0.02	-8.5849	7.6005	0.28073	0.4182:0.0:0.5818:0.0	.	475	Q6ZN66	GBP6_HUMAN	F	446;475;345	ENSP00000359485:L475F;ENSP00000442530:L345F	ENSP00000359485:L475F	L	+	3	2	GBP6	89621858	0.992000	0.36948	0.126000	0.21872	0.017000	0.09413	0.374000	0.20501	0.035000	0.15519	-0.216000	0.12614	TTG		0.463	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		22	81	0	0	0	0.003954	0	22	81				
HFM1	164045	broad.mit.edu	37	1	91818090	91818090	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:91818090C>T	ENST00000370425.3	-	16	2048	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.Q329Q|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	650	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q650Q(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACCAATCATCTGTAGAATAT	0.323																																							uc001doa.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1948-1950)CAG>CAA		HFM1 protein							87.0	81.0	83.0					1																	91818090		1829	4103	5932	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818090C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1950G>A	1.37:g.91818090C>T						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.Q329Q|HFM1_uc010osv.1_Silent_p.Q334Q	p.Q650Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	16	2050	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	650			Helicase C-terminal.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1950G>A	CCDS30769.2																																																																																				0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		15	51	0	0	0	0.004007	0	15	51				
FAM69A	388650	broad.mit.edu	37	1	93341943	93341943	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:93341943C>A	ENST00000370310.4	-	2	169	c.99G>T	c.(97-99)tgG>tgT	p.W33C		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	33						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.W33C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		AAACCACTAACCAGGAAAAGA	0.343																																							uc001dpg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TGG>TGT		family with sequence similarity 69, member A							77.0	73.0	74.0					1																	93341943		1841	4094	5935	SO:0001583	missense	388650					endoplasmic reticulum membrane|integral to membrane		g.chr1:93341943C>A	AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.99G>T	1.37:g.93341943C>A	ENSP00000359333:p.Trp33Cys					FAM69A_uc001dpc.2_Missense_Mutation_p.W33C|FAM69A_uc010otg.1_Missense_Mutation_p.W26C	p.W33C	NM_001006605	NP_001006606	Q5T7M9	FA69A_HUMAN		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)	2	192	-		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	33			Helical; (Potential).		Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	c.99G>T	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802039	0.70682	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.47528	0.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.995;0.999	T	0.65623	-0.6123	10	0.72032	D	0.01	-6.3887	19.2974	0.94128	0.0:1.0:0.0:0.0	.	26;33;33	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	C	33	ENSP00000359333:W33C	ENSP00000359333:W33C	W	-	3	0	FAM69A	93114531	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.421000	0.80204	2.724000	0.93272	0.655000	0.94253	TGG		0.343	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		7	40	1	0	0.00198382	0.001984	0.00212876	7	40				
CCDC18	343099	broad.mit.edu	37	1	93691946	93691946	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:93691946G>C	ENST00000343253.7	+	17	2731	c.2229G>C	c.(2227-2229)ttG>ttC	p.L743F	CCDC18_ENST00000334652.5_Missense_Mutation_p.L39F|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.L862F|CCDC18_ENST00000401026.3_Missense_Mutation_p.L744F|CCDC18_ENST00000338949.4_Missense_Mutation_p.L499F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	743								p.L862F(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTTGCATTTGAATCAATTGG	0.279																																							uc001dpq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(2584-2586)TTG>TTC		sarcoma antigen NY-SAR-41							57.0	57.0	57.0					1																	93691946		1801	4057	5858	SO:0001583	missense	343099							g.chr1:93691946G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2229G>C	1.37:g.93691946G>C	ENSP00000343377:p.Leu743Phe					CCDC18_uc009wdl.1_Missense_Mutation_p.L379F	p.L862F	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2754	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	743			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2586G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.44|19.44	3.827496|3.827496	0.71143|0.71143	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267|ENST00000370276	.|.	.|.	.|.	5.23|5.23	3.36|3.36	0.38483|0.38483	.|.	0.078260|.	0.52532|.	D|.	0.000062|.	T|.	0.49490|.	0.1560|.	M|M	0.63843|0.63843	1.955|1.955	0.46499|0.46499	D|D	0.999077|0.999077	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|.	0.48433|.	-0.9036|.	9|.	0.52906|.	T|.	0.07|.	.|.	10.0613|10.0613	0.42277|0.42277	0.2183:0.0:0.7817:0.0|0.2183:0.0:0.7817:0.0	.|.	743;862|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	F|S	743;744;862;499;39;419|797	.|.	ENSP00000334084:L39F|.	L|X	+|+	3|2	2|2	CCDC18|CCDC18	93464534|93464534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.087000|2.087000	0.41653|0.41653	0.694000|0.694000	0.31654|0.31654	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.279	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		10	53	0	0	0	0.001368	0	10	53				
ABCA4	24	broad.mit.edu	37	1	94574175	94574175	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:94574175G>T	ENST00000370225.3	-	4	486	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	ABCA4_ENST00000535735.1_Missense_Mutation_p.Q134K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	134					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Q134K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCATGAATTGGGACAAGATG	0.502																																							uc001dqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	HM070110	ABCA4	M		c.(400-402)CAA>AAA		ATP-binding cassette, sub-family A member 4							118.0	111.0	113.0					1																	94574175		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94574175G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.400C>A	1.37:g.94574175G>T	ENSP00000359245:p.Gln134Lys					ABCA4_uc010otn.1_Missense_Mutation_p.Q134K	p.Q134K	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	4	504	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	134			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.400C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	0.538	-0.854714	0.02630	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91011	-2.65;-2.77	5.55	4.62	0.57501	.	0.483471	0.22119	N	0.064379	T	0.70842	0.3270	N	0.17723	0.515	0.09310	N	1	B;B	0.15141	0.012;0.006	B;B	0.16289	0.015;0.003	T	0.57613	-0.7781	10	0.20519	T	0.43	.	13.0558	0.58980	0.0:0.0:0.7073:0.2927	.	134;134	F5H6E5;P78363	.;ABCA4_HUMAN	K	134	ENSP00000359245:Q134K;ENSP00000437682:Q134K	ENSP00000359245:Q134K	Q	-	1	0	ABCA4	94346763	0.409000	0.25368	0.004000	0.12327	0.599000	0.36880	1.915000	0.39976	1.311000	0.45024	0.557000	0.71058	CAA		0.502	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	111	1	0	0.000673444	0.008291	0.000736708	9	111				
PLPPR4	9890	broad.mit.edu	37	1	99772270	99772270	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:99772270C>G	ENST00000370185.3	+	7	2493	c.1996C>G	c.(1996-1998)Ctc>Gtc	p.L666V	LPPR4_ENST00000370184.1_Missense_Mutation_p.L508V|LPPR4_ENST00000457765.1_Missense_Mutation_p.L608V	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		666					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.L666V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTCAACGATCTCAACAGGGA	0.512																																							uc001dse.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1996-1998)CTC>GTC		plasticity related gene 1							69.0	66.0	67.0					1																	99772270		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772270C>G																												ENST00000370185.3:c.1996C>G	1.37:g.99772270C>G	ENSP00000359204:p.Leu666Val					LPPR4_uc010oue.1_Missense_Mutation_p.L608V	p.L666V	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2102	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	666					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1996C>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847514	0.51164	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.27890	2.22;2.13;1.64	5.9	5.9	0.94986	.	0.409870	0.27134	N	0.020774	T	0.40694	0.1127	L	0.40543	1.245	0.49915	D	0.99983	D;D	0.67145	0.996;0.973	D;P	0.75484	0.986;0.493	T	0.02546	-1.1143	9	.	.	.	-30.754	20.2822	0.98520	0.0:1.0:0.0:0.0	.	608;666	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	V	666;608;508	ENSP00000359204:L666V;ENSP00000394913:L608V;ENSP00000359203:L508V	.	L	+	1	0	RP4-788L13.1	99544858	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.675000	0.54605	2.806000	0.96561	0.655000	0.94253	CTC		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	43	0	0	0	0.00308	0	7	43				
FRRS1	391059	broad.mit.edu	37	1	100183082	100183082	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:100183082C>A	ENST00000414213.1	-	11	1722		c.e11-1		FRRS1_ENST00000287474.5_Splice_Site|FRRS1_ENST00000492943.1_5'Flank			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1							integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		ATTAAGGCACCTACAAGTGAG	0.413																																							uc001dsh.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e11-1		stromal cell derived factor receptor 2 homolog							115.0	105.0	108.0					1																	100183082		2203	4300	6503	SO:0001630	splice_region_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100183082C>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1121-1G>T	1.37:g.100183082C>A							p.G374_splice	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	11	1723	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)						A6NLN7	Splice_Site	SNP	ENST00000414213.1	37	c.1121_splice		.	.	.	.	.	.	.	.	.	.	C	16.61	3.171327	0.57584	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8015	0.92018	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRRS1	99955670	1.000000	0.71417	0.996000	0.52242	0.775000	0.43874	5.759000	0.68785	2.600000	0.87896	0.561000	0.74099	.		0.413	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660	Intron	7	82	1	0	0.00448238	0.004482	0.00475543	7	82				
COL11A1	1301	broad.mit.edu	37	1	103453205	103453205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:103453205C>A	ENST00000370096.3	-	30	2798	c.2486G>T	c.(2485-2487)gGt>gTt	p.G829V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G841V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G713V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G790V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	829	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G829V(1)|p.G841V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGCTTGACCTGAAGGACC	0.468																																							uc001dul.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2485-2487)GGT>GTT		alpha 1 type XI collagen isoform A							88.0	83.0	85.0					1																	103453205		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453205C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2486G>T	1.37:g.103453205C>A	ENSP00000359114:p.Gly829Val					COL11A1_uc001duk.2_Missense_Mutation_p.V20F|COL11A1_uc001dum.2_Missense_Mutation_p.G841V|COL11A1_uc001dun.2_Missense_Mutation_p.G790V|COL11A1_uc009weh.2_Missense_Mutation_p.G713V	p.G829V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2804	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	829			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2486G>T	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.60|17.60	3.431034|3.431034	0.62844|0.62844	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.97941|.	-4.62;-4.62;-4.62;-4.62|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77772|0.77772	0.4180|0.4180	H|H	0.96208|0.96208	3.785|3.785	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.89917|0.24963	1.0;1.0;1.0;1.0|0.115	D;D;D;D|B	0.97110|0.32624	1.0;0.998;0.999;0.998|0.149	T|T	0.82055|0.82055	-0.0647|-0.0647	10|8	0.87932|0.59425	D|D	0|0.04	.|.	17.507|17.507	0.87748|0.87748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	713;790;841;829|44	E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5	.;.;.;COBA1_HUMAN|.	V|F	829;841;790;713|44	ENSP00000359114:G829V;ENSP00000351163:G841V;ENSP00000302551:G790V;ENSP00000426533:G713V|.	ENSP00000302551:G790V|ENSP00000359108:V44F	G|V	-|-	2|1	0|0	COL11A1|COL11A1	103225793|103225793	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.530000|0.530000	0.34684|0.34684	7.132000|7.132000	0.77251|0.77251	2.417000|2.417000	0.82017|0.82017	0.460000|0.460000	0.39030|0.39030	GGT|GTC		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	59	1	0	3.32936e-07	0.006122	4.24914e-07	16	59				
AMY2B	280	broad.mit.edu	37	1	104115874	104115874	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:104115874G>T	ENST00000361355.4	+	5	1121	c.505G>T	c.(505-507)Gct>Tct	p.A169S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	169					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.A169S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTACAATGATGCTACTCAGGT	0.363																																							uc001duq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GCT>TCT		amylase, pancreatic, alpha-2B precursor							193.0	206.0	201.0					1																	104115874		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115874G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.505G>T	1.37:g.104115874G>T	ENSP00000354610:p.Ala169Ser					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.A169S|AMY2B_uc001dus.1_5'Flank	p.A169S	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	1121	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	169					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.505G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871970	0.33069	.	.	ENSG00000240038	ENST00000361355	D	0.98249	-4.82	4.58	-5.42	0.02640	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	1.438130	0.03791	N	0.262799	D	0.94823	0.8328	M	0.75884	2.315	0.24006	N	0.996198	B	0.09022	0.002	B	0.22753	0.041	D	0.90044	0.4144	10	0.54805	T	0.06	.	10.5912	0.45310	0.2334:0.5356:0.2311:0.0	.	169	P19961	AMY2B_HUMAN	S	169	ENSP00000354610:A169S	ENSP00000354610:A169S	A	+	1	0	AMY2B	103917397	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.579000	0.02123	-0.637000	0.05516	0.644000	0.83932	GCT		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		19	263	1	0	1.56452e-12	0.007413	2.4359e-12	19	263				
VAV3	10451	broad.mit.edu	37	1	108299900	108299900	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:108299900C>A	ENST00000370056.4	-	11	1343	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	VAV3_ENST00000371846.4_Missense_Mutation_p.A292S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.A357S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.A357S(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCATCAAGAGCCAGTTTCAGA	0.358																																							uc001dvk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|breast(2)	9						c.(1069-1071)GCT>TCT		vav 3 guanine nucleotide exchange factor isoform							164.0	156.0	159.0					1																	108299900		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108299900C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1069G>T	1.37:g.108299900C>A	ENSP00000359073:p.Ala357Ser					VAV3_uc010ouw.1_Missense_Mutation_p.A357S|VAV3_uc001dvl.1_Missense_Mutation_p.A181S|VAV3_uc010oux.1_Missense_Mutation_p.A357S	p.A357S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	11	1123	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	357			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1069G>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	25.7|25.7	4.668687|4.668687	0.88348|0.88348	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.76709|.	-1.04;-1.04;-1.04|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83207|0.83207	0.5204|0.5204	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.71674|.	0.974;0.998;0.938;0.883|.	D;D;D;P|.	0.91635|.	0.91;0.999;0.96;0.844|.	D|D	0.84399|0.84399	0.0559|0.0559	10|5	0.56958|.	D|.	0.05|.	.|.	20.1174|20.1174	0.97942|0.97942	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	357;357;292;357|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	S|C	357;357;292|351	ENSP00000359073:A357S;ENSP00000432540:A357S;ENSP00000360912:A292S|.	ENSP00000359073:A357S|.	A|W	-|-	1|3	0|0	VAV3|VAV3	108101423|108101423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.622000|0.622000	0.37654|0.37654	7.381000|7.381000	0.79718|0.79718	2.755000|2.755000	0.94549|0.94549	0.639000|0.639000	0.83563|0.83563	GCT|TGG		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		8	47	1	0	7.48243e-07	0.006214	9.3972e-07	8	47				
PROK1	84432	broad.mit.edu	37	1	110996662	110996662	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:110996662C>A	ENST00000271331.3	+	2	169	c.152C>A	c.(151-153)aCc>aAc	p.T51N	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	51					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)		p.T51N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGATGTGCACCCCGCTGGGG	0.657																																							uc001dzs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)ACC>AAC		prokineticin 1 precursor							45.0	41.0	43.0					1																	110996662		2203	4300	6503	SO:0001583	missense	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110996662C>A	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.152C>A	1.37:g.110996662C>A	ENSP00000271331:p.Thr51Asn						p.T51N	NM_032414	NP_115790	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	203	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	51					Q5VWD4|Q8TC69	Missense_Mutation	SNP	ENST00000271331.3	37	c.152C>A	CCDS825.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589404	0.66105	.	.	ENSG00000143125	ENST00000271331	D	0.86164	-2.08	5.28	4.36	0.52297	Prokineticin domain (2);	0.236810	0.43579	D	0.000542	D	0.90995	0.7168	M	0.83603	2.65	0.33737	D	0.618905	D	0.71674	0.998	D	0.66351	0.943	D	0.92186	0.5755	10	0.87932	D	0	.	13.0153	0.58753	0.0:0.9196:0.0:0.0804	.	51	P58294	PROK1_HUMAN	N	51	ENSP00000271331:T51N	ENSP00000271331:T51N	T	+	2	0	PROK1	110798185	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.811000	0.47986	1.339000	0.45563	0.655000	0.94253	ACC		0.657	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		10	54	1	0	0.00185496	0.001855	0.0020036	10	54				
KCNA10	3744	broad.mit.edu	37	1	111060306	111060306	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:111060306C>T	ENST00000369771.2	-	1	1491	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	368					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.L368L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGACGCCTTCAGTGTTTGCC	0.567																																							uc001dzt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1102-1104)CTG>CTA		potassium voltage-gated channel, shaker-related							96.0	92.0	93.0					1																	111060306		2203	4300	6503	SO:0001819	synonymous_variant	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060306C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1104G>A	1.37:g.111060306C>T							p.L368L	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1492	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	368						Silent	SNP	ENST00000369771.2	37	c.1104G>A	CCDS826.1																																																																																				0.567	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		9	158	0	0	0	0.000978	0	9	158				
SYT6	148281	broad.mit.edu	37	1	114680353	114680353	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:114680353A>C	ENST00000610222.1	-	3	981	c.835T>G	c.(835-837)Tgc>Ggc	p.C279G	SYT6_ENST00000393296.1_Missense_Mutation_p.C279G|SYT6_ENST00000607941.1_Missense_Mutation_p.C194G|SYT6_ENST00000369547.1_Missense_Mutation_p.C194G|SYT6_ENST00000609117.1_Missense_Mutation_p.C194G			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	279	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.C194G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAGCTTGCATTTGCGGTCA	0.552																																							uc001eev.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(580-582)TGC>GGC		synaptotagmin VI							140.0	130.0	133.0					1																	114680353		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680353A>C		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.835T>G	1.37:g.114680353A>C	ENSP00000476396:p.Cys279Gly						p.C194G	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	830	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	279			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.580T>G		.	.	.	.	.	.	.	.	.	.	A	12.13	1.845580	0.32606	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.46	4.33	0.51752	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.138054	0.44285	D	0.000476	T	0.18257	0.0438	N	0.02192	-0.645	0.34306	D	0.684925	B	0.02656	0.0	B	0.09377	0.004	T	0.04737	-1.0930	10	0.72032	D	0.01	.	3.3386	0.07110	0.6216:0.0:0.211:0.1674	.	279	Q5T7P8	SYT6_HUMAN	G	194;279;194;279	ENSP00000358560:C194G;ENSP00000376974:C279G;ENSP00000358559:C194G;ENSP00000358558:C279G	ENSP00000358558:C279G	C	-	1	0	SYT6	114481876	0.879000	0.30193	0.866000	0.34008	0.990000	0.78478	1.371000	0.34250	0.907000	0.36646	0.533000	0.62120	TGC		0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		26	107	0	0	0	0.005443	0	26	107				
SYCP1	6847	broad.mit.edu	37	1	115523985	115523985	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:115523985C>A	ENST00000369522.3	+	29	2651	c.2411C>A	c.(2410-2412)cCt>cAt	p.P804H	SYCP1_ENST00000369518.1_Missense_Mutation_p.P804H|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	804					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.P804H(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAACACCTGAAATTTAT	0.289																																							uc001efr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2410-2412)CCT>CAT		synaptonemal complex protein 1							82.0	83.0	83.0					1																	115523985		2202	4297	6499	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115523985C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2411C>A	1.37:g.115523985C>A	ENSP00000358535:p.Pro804His					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.P804H|SYCP1_uc009wgw.2_Missense_Mutation_p.P779H	p.P804H	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	29	2620	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	804					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2411C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499437	0.44455	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	T;T	0.33438	1.41;1.41	5.52	4.55	0.56014	.	0.767865	0.12476	N	0.465565	T	0.27594	0.0678	L	0.54323	1.7	0.44539	D	0.997498	D;D	0.63046	0.992;0.992	P;P	0.52710	0.707;0.707	T	0.06023	-1.0850	10	0.72032	D	0.01	-0.4442	9.1994	0.37249	0.0:0.8891:0.0:0.1109	.	804;804	B7ZLS9;Q15431	.;SYCP1_HUMAN	H	804	ENSP00000358535:P804H;ENSP00000358531:P804H	ENSP00000358531:P804H	P	+	2	0	SYCP1	115325508	0.984000	0.35163	0.998000	0.56505	0.461000	0.32589	0.787000	0.26858	1.209000	0.43321	0.591000	0.81541	CCT		0.289	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		17	41	1	0	1.96292e-10	0.010504	2.86363e-10	17	41				
IGSF3	3321	broad.mit.edu	37	1	117131682	117131682	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:117131682C>A	ENST00000369486.3	-	8	2839	c.2074G>T	c.(2074-2076)Gtg>Ttg	p.V692L	IGSF3_ENST00000318837.6_Missense_Mutation_p.V712L|IGSF3_ENST00000369483.1_Missense_Mutation_p.V712L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	692	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V712L(1)|p.V692L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TTGTTTTCCACCAGGGTGAGG	0.532																																							uc001egr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2074-2076)GTG>TTG		immunoglobulin superfamily, member 3 isoform 2							99.0	94.0	96.0					1																	117131682		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117131682C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2074G>T	1.37:g.117131682C>A	ENSP00000358498:p.Val692Leu					IGSF3_uc001egq.1_Missense_Mutation_p.V712L|IGSF3_uc001egs.1_Missense_Mutation_p.V365L	p.V692L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	2779	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	692			Ig-like C2-type 6.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2074G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743030	0.30865	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.66460	-0.21;-0.21;-0.21	4.16	3.19	0.36642	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.388394	0.24508	N	0.037904	T	0.22475	0.0542	N	0.03050	-0.425	0.42091	D	0.991299	B;B;B	0.15930	0.003;0.015;0.004	B;B;B	0.21360	0.013;0.034;0.022	T	0.09185	-1.0686	10	0.17832	T	0.49	-21.2461	11.7036	0.51585	0.0:0.8207:0.1793:0.0	.	712;692;712	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	L	692;712;712	ENSP00000358498:V692L;ENSP00000358495:V712L;ENSP00000321184:V712L	ENSP00000321184:V712L	V	-	1	0	IGSF3	116933205	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.323000	0.43823	2.155000	0.67459	0.462000	0.41574	GTG		0.532	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		14	131	1	0	1.99824e-07	0.00499	2.59231e-07	14	131				
PTGFRN	5738	broad.mit.edu	37	1	117527322	117527322	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:117527322T>C	ENST00000393203.2	+	8	2335	c.2188T>C	c.(2188-2190)Tcc>Ccc	p.S730P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	730	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S730P(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTTTGATGTGTCCTGGTTTGC	0.552																																							uc001egv.1		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(2188-2190)TCC>CCC		prostaglandin F2 receptor negative regulator							263.0	203.0	223.0					1																	117527322		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117527322T>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2188T>C	1.37:g.117527322T>C	ENSP00000376899:p.Ser730Pro						p.S730P	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	8	2325	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	730			Ig-like C2-type 6.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2188T>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689662	0.68271	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.56611	0.45	5.59	1.57	0.23409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.341047	0.32970	N	0.005438	T	0.29423	0.0733	L	0.50333	1.59	0.34832	D	0.739806	P	0.48998	0.918	P	0.44477	0.451	T	0.08269	-1.0730	10	0.49607	T	0.09	-11.3831	6.8737	0.24135	0.14:0.0:0.2902:0.5699	.	730	Q9P2B2	FPRP_HUMAN	P	730;589	ENSP00000376899:S730P	ENSP00000376899:S730P	S	+	1	0	PTGFRN	117328845	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.359000	0.34113	0.345000	0.23873	0.459000	0.35465	TCC		0.552	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		21	112	0	0	0	0.002299	0	21	112				
HSD3B2	3284	broad.mit.edu	37	1	119958100	119958100	+	Missense_Mutation	SNP	C	C	T	rs139191056		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:119958100C>T	ENST00000543831.1	+	2	307	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.R20C|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	20					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.R20C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GAGGATCGTCCGCCTGTTGGT	0.517																																							uc001ehs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(58-60)CGC>TGC		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	98.0	96.0	97.0		58,58	0.2	0.0	1	dbSNP_134	97	1,8599		0,1,4299	no	missense,missense	HSD3B2	NM_000198.3,NM_001166120.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	20/373,20/373	119958100	1,13005	2203	4300	6503	SO:0001583	missense	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.chr1:119958100C>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.58C>T	1.37:g.119958100C>T	ENSP00000445122:p.Arg20Cys					HSD3B2_uc001eht.2_Missense_Mutation_p.R20C|HSD3B2_uc001ehu.2_Missense_Mutation_p.R20C	p.R20C	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	1	831	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	20					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.58C>T	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	8.128	0.782382	0.16189	0.0	1.16E-4	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.90004	-2.6;-2.6;-2.6	3.6	0.202	0.15190	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.553647	0.17377	N	0.176435	T	0.67850	0.2937	L	0.48935	1.535	0.09310	N	0.999992	B;B	0.26602	0.021;0.154	B;B	0.27715	0.006;0.082	T	0.57785	-0.7751	9	.	.	.	-9.8424	4.1811	0.10376	0.3445:0.4633:0.0:0.1922	.	20;20	P26439-2;P26439	.;3BHS2_HUMAN	C	20	ENSP00000445122:R20C;ENSP00000388292:R20C;ENSP00000358424:R20C	.	R	+	1	0	HSD3B2	119759623	0.000000	0.05858	0.025000	0.17156	0.540000	0.34992	0.284000	0.18864	-0.033000	0.13736	0.454000	0.30748	CGC		0.517	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		9	111	0	0	0	0.008291	0	9	111				
NOTCH2	4853	broad.mit.edu	37	1	120478159	120478159	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:120478159C>T	ENST00000256646.2	-	22	3810	c.3591G>A	c.(3589-3591)caG>caA	p.Q1197Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1197	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.Q1197Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCTCCATTCTGGCAGGGCT	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - coding silent(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(3589-3591)CAG>CAA		notch 2 preproprotein							153.0	141.0	145.0					1																	120478159		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120478159C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3591G>A	1.37:g.120478159C>T						NOTCH2_uc001eil.2_Silent_p.Q1197Q	p.Q1197Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	22	3847	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1197			EGF-like 31; calcium-binding (Potential).|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.3591G>A	CCDS908.1																																																																																				0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		41	149	0	0	0	0.007835	0	41	149				
TXNIP	10628	broad.mit.edu	37	1	145439780	145439780	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145439780C>G	ENST00000369317.4	+	3	660	c.326C>G	c.(325-327)cCt>cGt	p.P109R	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	109					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.P109R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACACAGGCCTCTGGGAACA	0.413																																							uc001enn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)CCT>CGT		thioredoxin interacting protein							86.0	90.0	88.0					1																	145439780		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439780C>G	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.326C>G	1.37:g.145439780C>G	ENSP00000358323:p.Pro109Arg					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.P54R	p.P109R	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	667	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		109					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.326C>G	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601301	0.28534	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.13657	2.57;2.57	4.84	4.84	0.62591	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.059629	0.64402	D	0.000002	T	0.06325	0.0163	L	0.42245	1.32	0.45607	D	0.998549	P;B	0.36633	0.562;0.026	B;B	0.35813	0.211;0.009	T	0.27157	-1.0082	10	0.16420	T	0.52	0.0886	15.8194	0.78628	0.0:1.0:0.0:0.0	.	54;109	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	R	109;54	ENSP00000358323:P109R;ENSP00000396322:P54R	ENSP00000358323:P109R	P	+	2	0	TXNIP	144151137	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.580000	0.60942	2.684000	0.91462	0.558000	0.71614	CCT		0.413	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		14	212	0	0	0	0.00499	0	14	212				
TXNIP	10628	broad.mit.edu	37	1	145439809	145439809	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145439809G>T	ENST00000369317.4	+	3	689	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	119					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.G119W(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAAAATATGGGTGTGTAGA	0.433																																							uc001enn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(355-357)GGG>TGG		thioredoxin interacting protein							93.0	96.0	95.0					1																	145439809		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439809G>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.355G>T	1.37:g.145439809G>T	ENSP00000358323:p.Gly119Trp					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.G64W	p.G119W	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	696	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		119					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.355G>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060936	0.76074	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.37584	1.19;1.19	5.14	5.14	0.70334	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69993	-0.4994	10	0.87932	D	0	-0.4086	16.1408	0.81519	0.0:0.0:1.0:0.0	.	64;119	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	W	119;64	ENSP00000358323:G119W;ENSP00000396322:G64W	ENSP00000358323:G119W	G	+	1	0	TXNIP	144151166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.159000	0.94728	2.684000	0.91462	0.558000	0.71614	GGG		0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		15	232	1	0	8.34094e-07	0.008871	1.0409e-06	15	232				
ITGA10	8515	broad.mit.edu	37	1	145539090	145539090	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145539090C>T	ENST00000369304.3	+	25	3205	c.3030C>T	c.(3028-3030)aaC>aaT	p.N1010N	ITGA10_ENST00000539363.1_Silent_p.N867N|ITGA10_ENST00000538811.1_Silent_p.N879N|RP11-315I20.3_ENST00000415065.2_RNA	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1010					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.N1010N(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCATCACTAACAATGTGAGTC	0.542																																							uc001eoa.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(3028-3030)AAC>AAT		integrin, alpha 10 precursor							80.0	75.0	76.0					1																	145539090		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145539090C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3030C>T	1.37:g.145539090C>T						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.N879N|ITGA10_uc009wiw.2_Silent_p.N867N|ITGA10_uc010oyw.1_Silent_p.N955N	p.N1010N	NM_003637	NP_003628	O75578	ITA10_HUMAN			25	3106	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		1010			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.3030C>T	CCDS918.1																																																																																				0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		25	141	0	0	0	0.004656	0	25	141				
OTUD7B	56957	broad.mit.edu	37	1	149916312	149916312	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:149916312C>A	ENST00000369135.4	-	12	2270	c.1976G>T	c.(1975-1977)gGt>gTt	p.G659V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	659					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G659V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGGGCCACCCCCTATTCC	0.557																																							uc001etn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1975-1977)GGT>GTT		zinc finger protein Cezanne							89.0	92.0	91.0					1																	149916312		2006	4154	6160	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916312C>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1976G>T	1.37:g.149916312C>A	ENSP00000358131:p.Gly659Val						p.G659V	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2332	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		659					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1976G>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.719416	0.30503	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.30182	1.54	5.17	5.17	0.71159	.	0.597437	0.18837	N	0.129786	T	0.09335	0.0230	N	0.14661	0.345	0.48185	D	0.999608	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	9	.	.	.	-25.1788	16.1936	0.82006	0.0:1.0:0.0:0.0	.	659	Q6GQQ9	OTU7B_HUMAN	V	659	ENSP00000358131:G659V	.	G	-	2	0	OTUD7B	148182936	0.012000	0.17670	0.988000	0.46212	0.975000	0.68041	1.245000	0.32790	2.413000	0.81919	0.552000	0.68991	GGT		0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		24	284	1	0	2.21704e-12	0.00278	3.44095e-12	24	284				
VPS45	11311	broad.mit.edu	37	1	150040772	150040772	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:150040772G>A	ENST00000369130.3	+	2	725	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	VPS45_ENST00000535106.1_Missense_Mutation_p.R60Q|VPS45_ENST00000369128.5_Missense_Mutation_p.R24Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	60					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.R60Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAAAATCGAGAGATCATG	0.418																																							uc001etp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(178-180)CGA>CAA		vacuolar protein sorting 45A							129.0	110.0	116.0					1																	150040772		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150040772G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.179G>A	1.37:g.150040772G>A	ENSP00000358126:p.Arg60Gln					VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.R24Q|VPS45_uc010pbs.1_Missense_Mutation_p.R24Q|VPS45_uc009wlm.1_Missense_Mutation_p.R60Q|VPS45_uc010pbr.1_Missense_Mutation_p.R24Q	p.R60Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	752	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		60					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.179G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	37	6.083455	0.97267	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000535106;ENST00000419023	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.23	5.23	0.72850	.	0.195131	0.44097	D	0.000494	D	0.88945	0.6575	M	0.78344	2.41	0.31083	N	0.711704	D;D;D;D	0.76494	0.999;0.99;0.997;0.997	D;P;D;D	0.77557	0.99;0.787;0.912;0.912	D	0.86669	0.1909	10	0.56958	D	0.05	.	16.6541	0.85224	0.0:0.0:1.0:0.0	.	24;24;60;60	F5H8K1;B7Z7G7;Q53FR8;Q9NRW7	.;.;.;VPS45_HUMAN	Q	60;24;60;60	ENSP00000358126:R60Q;ENSP00000358124:R24Q;ENSP00000440690:R60Q;ENSP00000400143:R60Q	ENSP00000358124:R24Q	R	+	2	0	VPS45	148307396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.596000	0.87737	0.650000	0.86243	CGA		0.418	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		14	205	0	0	0	0.00245	0	14	205				
PSMD4	5710	broad.mit.edu	37	1	151239025	151239025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:151239025G>T	ENST00000368884.3	+	9	1005	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	PSMD4_ENST00000368881.4_Missense_Mutation_p.D312Y	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	309					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D309Y(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCAGACATTGATGCCAGCTC	0.537																																							uc001exl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GAT>TAT		proteasome 26S non-ATPase subunit 4							96.0	86.0	89.0					1																	151239025		2203	4300	6503	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151239025G>T	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.925G>T	1.37:g.151239025G>T	ENSP00000357879:p.Asp309Tyr					PSMD4_uc001exn.2_Missense_Mutation_p.D312Y	p.D309Y	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	987	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		309					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.925G>T	CCDS991.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.6|25.6|25.6	4.656102|4.656102|4.656102	0.88056|0.88056|0.88056	.|.|.	.|.|.	ENSG00000159352|ENSG00000159352|ENSG00000159352	ENST00000368884;ENST00000368881|ENST00000453615|ENST00000445776	.|.|.	.|.|.	.|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.061307|.|.	0.64402|.|.	D|.|.	0.000006|.|.	T|T|.	0.70996|0.70996|.	0.3288|0.3288|.	M|M|M	0.71581|0.71581|0.71581	2.175|2.175|2.175	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.71674|.|.	0.998;0.996|.|.	D;D|.|.	0.67231|.|.	0.95;0.927|.|.	T|T|.	0.67968|0.67968|.	-0.5533|-0.5533|.	9|5|.	0.72032|.|.	D|.|.	0.01|.|.	-29.3225|-29.3225|-29.3225	19.1682|19.1682|19.1682	0.93565|0.93565|0.93565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	312;309|.|.	Q5VWC4;P55036|.|.	.;PSMD4_HUMAN|.|.	Y|F|L	309;312|2|124	.|.|.	ENSP00000357876:D312Y|.|.	D|L|X	+|+|+	1|3|2	0|2|2	PSMD4|PSMD4|PSMD4	149505649|149505649|149505649	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.956000|0.956000|0.956000	0.39512|0.39512|0.39512	0.936000|0.936000|0.936000	0.57629|0.57629|0.57629	6.247000|6.247000|6.247000	0.72411|0.72411|0.72411	2.865000|2.865000|2.865000	0.98341|0.98341|0.98341	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|TTG|TGA		0.537	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		53	50	1	0	1.11015e-26	0.00361	2.10277e-26	53	50				
THEM4	117145	broad.mit.edu	37	1	151867517	151867517	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:151867517C>T	ENST00000368814.3	-	2	602	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	THEM4_ENST00000489410.1_Missense_Mutation_p.E85K	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	85					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|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)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.E85K(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAATCCATTCAGTAGGTGTA	0.388																																							uc001ezj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GAA>AAA		thioesterase superfamily member 4							124.0	123.0	124.0					1																	151867517		2203	4300	6503	SO:0001583	missense	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151867517C>T	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.253G>A	1.37:g.151867517C>T	ENSP00000357804:p.Glu85Lys					THEM4_uc001ezk.1_RNA	p.E85K	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	432	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		85					B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	c.253G>A	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	9.126	1.010155	0.19277	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.24908	1.91;1.83	3.67	-5.91	0.02269	.	0.995284	0.08152	N	0.989908	T	0.03095	0.0091	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.39961	-0.9588	10	0.11182	T	0.66	1.9375	4.784	0.13217	0.0855:0.4848:0.1909:0.2388	.	85	Q5T1C6	THEM4_HUMAN	K	85	ENSP00000357804:E85K;ENSP00000433304:E85K	ENSP00000357804:E85K	E	-	1	0	THEM4	150134141	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.707000	0.01893	-1.249000	0.02500	-1.008000	0.02478	GAA		0.388	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		16	240	0	0	0	0.006122	0	16	240				
TCHH	7062	broad.mit.edu	37	1	152080784	152080784	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152080784G>T	ENST00000368804.1	-	2	4908	c.4909C>A	c.(4909-4911)Cac>Aac	p.H1637N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1637	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.H1637N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCGGTGCAGCTGCTGT	0.617																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4909-4911)CAC>AAC		trichohyalin							66.0	67.0	67.0					1																	152080784		1921	4119	6040	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080784G>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4909C>A	1.37:g.152080784G>T	ENSP00000357794:p.His1637Asn					TCHH_uc009wne.1_Missense_Mutation_p.H1637N	p.H1637N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4909	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1637			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4909C>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	8.402	0.842069	0.16963	.	.	ENSG00000159450	ENST00000368804	T	0.04706	3.57	3.53	2.56	0.30785	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.15484	0.013	T	0.47407	-0.9120	9	0.19147	T	0.46	.	8.2443	0.31680	0.0:0.0:0.5496:0.4503	.	1637	Q07283	TRHY_HUMAN	N	1637	ENSP00000357794:H1637N	ENSP00000357794:H1637N	H	-	1	0	TCHH	150347408	0.085000	0.21516	0.074000	0.20217	0.182000	0.23217	0.120000	0.15647	0.773000	0.33404	0.467000	0.42956	CAC		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		10	162	1	0	1.5842e-08	0.001855	2.15163e-08	10	162				
HRNR	388697	broad.mit.edu	37	1	152192277	152192277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152192277G>T	ENST00000368801.2	-	3	1903	c.1828C>A	c.(1828-1830)Cat>Aat	p.H610N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	610					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H610N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGCCCATGGGTAGAGGAA	0.567																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1828-1830)CAT>AAT		hornerin							261.0	235.0	244.0					1																	152192277		2203	4299	6502	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192277G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1828C>A	1.37:g.152192277G>T	ENSP00000357791:p.His610Asn						p.H610N	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		610			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1828C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.156	0.396916	0.11638	.	.	ENSG00000197915	ENST00000368801	T	0.01599	4.74	3.82	-7.64	0.01286	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46555	-0.9183	9	0.23302	T	0.38	.	5.3639	0.16103	0.3463:0.0:0.417:0.2367	.	610	Q86YZ3	HORN_HUMAN	N	610	ENSP00000357791:H610N	ENSP00000357791:H610N	H	-	1	0	HRNR	150458901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.021000	0.03615	-1.621000	0.01562	-0.923000	0.02734	CAT		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		54	636	1	0	2.3441e-25	0.00361	4.4061e-25	54	636				
FLG	2312	broad.mit.edu	37	1	152276776	152276776	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152276776G>T	ENST00000368799.1	-	3	10621	c.10586C>A	c.(10585-10587)cCc>cAc	p.P3529H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3529	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGTCCTGGGCCCCGCTGA	0.582									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10585-10587)CCC>CAC		filaggrin							196.0	202.0	200.0					1																	152276776		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276776G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10586C>A	1.37:g.152276776G>T	ENSP00000357789:p.Pro3529His						p.P3529H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10622	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3529			Ser-rich.|Filaggrin 21.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10586C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.949135	0.18356	.	.	ENSG00000143631	ENST00000368799	T	0.03663	3.85	3.55	-0.837	0.10766	.	.	.	.	.	T	0.03136	0.0092	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.38415	-0.9662	9	0.44086	T	0.13	.	7.4086	0.27006	0.4265:0.0:0.5735:0.0	.	3529	P20930	FILA_HUMAN	H	3529	ENSP00000357789:P3529H	ENSP00000357789:P3529H	P	-	2	0	FLG	150543400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.599000	0.05700	-0.567000	0.06046	-1.156000	0.01807	CCC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		275	373	1	0	1.25185e-109	0.00361	2.51135e-109	275	373				
FLG	2312	broad.mit.edu	37	1	152279055	152279055	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152279055C>T	ENST00000368799.1	-	3	8342	c.8307G>A	c.(8305-8307)caG>caA	p.Q2769Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2769	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q2769Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTGTGCCTGCTCATGGC	0.592									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8305-8307)CAG>CAA		filaggrin							284.0	374.0	344.0					1																	152279055		2197	4298	6495	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279055C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8307G>A	1.37:g.152279055C>T							p.Q2769Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8343	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2769			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8307G>A	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		109	560	0	0	0	0.00361	0	109	560				
FLG	2312	broad.mit.edu	37	1	152282354	152282354	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152282354G>T	ENST00000368799.1	-	3	5043	c.5008C>A	c.(5008-5010)Cag>Aag	p.Q1670K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1670	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1670K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCCTGGGATGATGCA	0.557									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5008-5010)CAG>AAG		filaggrin							328.0	328.0	328.0					1																	152282354		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282354G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5008C>A	1.37:g.152282354G>T	ENSP00000357789:p.Gln1670Lys						p.Q1670K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5044	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1670			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5008C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.346	0.249188	0.10130	.	.	ENSG00000143631	ENST00000368799	T	0.00724	5.78	3.44	2.52	0.30459	.	.	.	.	.	T	0.00271	0.0008	L	0.51422	1.61	0.09310	N	1	P	0.42409	0.779	B	0.37989	0.262	T	0.18209	-1.0344	9	0.05959	T	0.93	.	6.7671	0.23573	0.136:0.0:0.864:0.0	.	1670	P20930	FILA_HUMAN	K	1670	ENSP00000357789:Q1670K	ENSP00000357789:Q1670K	Q	-	1	0	FLG	150548978	0.036000	0.19791	0.001000	0.08648	0.006000	0.05464	0.894000	0.28350	0.789000	0.33779	0.306000	0.20318	CAG		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		337	545	1	0	2.2946e-140	0.00361	4.60794e-140	337	545				
FLG	2312	broad.mit.edu	37	1	152283677	152283677	+	Missense_Mutation	SNP	C	C	A	rs377533309	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152283677C>A	ENST00000368799.1	-	3	3720	c.3685G>T	c.(3685-3687)Ggc>Tgc	p.G1229C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1229	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1229C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGGAGCCGTCTCCTGAT	0.567									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3685-3687)GGC>TGC		filaggrin							322.0	313.0	316.0					1																	152283677		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283677C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3685G>T	1.37:g.152283677C>A	ENSP00000357789:p.Gly1229Cys					uc001ezv.2_5'Flank	p.G1229C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3721	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1229			Ser-rich.|Filaggrin 7.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3685G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489277	0.04352	.	.	ENSG00000143631	ENST00000368799	T	0.01767	4.65	2.46	-0.292	0.12839	.	.	.	.	.	T	0.01489	0.0048	M	0.77103	2.36	0.09310	N	1	D	0.63046	0.992	P	0.49421	0.61	T	0.38802	-0.9644	9	0.56958	D	0.05	.	4.7389	0.13003	0.0:0.344:0.0:0.656	.	1229	P20930	FILA_HUMAN	C	1229	ENSP00000357789:G1229C	ENSP00000357789:G1229C	G	-	1	0	FLG	150550301	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.590000	0.02102	-0.334000	0.08463	-1.172000	0.01736	GGC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	796	1	0	5.5144e-22	0.00361	1.0114e-21	63	796				
FLG2	388698	broad.mit.edu	37	1	152326453	152326453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152326453G>T	ENST00000388718.5	-	3	3881	c.3809C>A	c.(3808-3810)tCt>tAt	p.S1270Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1270	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1270Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTTGGCTAGATCTTCGTCT	0.453																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3808-3810)TCT>TAT		filaggrin family member 2							369.0	337.0	348.0					1																	152326453		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326453G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3809C>A	1.37:g.152326453G>T	ENSP00000373370:p.Ser1270Tyr					uc001ezv.2_Intron	p.S1270Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3882	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1270			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3809C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520176	0.27211	.	.	ENSG00000143520	ENST00000388718	T	0.37584	1.19	3.44	0.0171	0.14111	.	.	.	.	.	T	0.13884	0.0336	M	0.62723	1.935	0.09310	N	1	B	0.28998	0.23	B	0.22753	0.041	T	0.23940	-1.0174	9	0.66056	D	0.02	-0.0166	5.8205	0.18524	0.0:0.1877:0.4281:0.3841	.	1270	Q5D862	FILA2_HUMAN	Y	1270	ENSP00000373370:S1270Y	ENSP00000373370:S1270Y	S	-	2	0	FLG2	150593077	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	0.048000	0.14078	-0.056000	0.13221	0.306000	0.20318	TCT		0.453	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		37	548	1	0	3.62531e-18	0.004289	6.37018e-18	37	548				
LCE2B	26239	broad.mit.edu	37	1	152659626	152659626	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152659626T>A	ENST00000368780.3	+	2	361	c.307T>A	c.(307-309)Tgc>Agc	p.C103S	LCE2B_ENST00000417924.2_Missense_Mutation_p.C103S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	103	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.C103S(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGGCTGCTGCCACAGCTC	0.592																																							uc001fai.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(307-309)TGC>AGC		late cornified envelope 2B							33.0	41.0	38.0					1																	152659626		2142	4220	6362	SO:0001583	missense	26239				keratinization			g.chr1:152659626T>A	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.307T>A	1.37:g.152659626T>A	ENSP00000357769:p.Cys103Ser						p.C103S	NM_014357	NP_055172	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	361	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.307T>A	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910816	0.17833	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.04083	3.71;3.71	2.31	1.05	0.20165	.	.	.	.	.	T	0.01800	0.0057	M	0.67953	2.075	0.09310	N	1	P	0.36354	0.549	B	0.28305	0.088	T	0.41538	-0.9503	9	0.87932	D	0	.	5.1646	0.15079	0.0:0.0:0.3057:0.6943	.	103	O14633	LCE2B_HUMAN	S	103	ENSP00000414043:C103S;ENSP00000357769:C103S	ENSP00000357769:C103S	C	+	1	0	LCE2B	150926250	0.926000	0.31397	0.105000	0.21289	0.441000	0.31987	0.542000	0.23222	0.110000	0.17919	0.260000	0.18958	TGC		0.592	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		29	78	0	0	0	0.00361	0	29	78				
KPRP	448834	broad.mit.edu	37	1	152732303	152732303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152732303A>T	ENST00000606109.1	+	1	267	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	KPRP_ENST00000368773.1_Missense_Mutation_p.Q80L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	80	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.Q80L(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCAAGCAGGTGAAGGGC	0.557																																							uc001fal.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(238-240)CAG>CTG		keratinocyte proline-rich protein							192.0	165.0	174.0					1																	152732303		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732303A>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.239A>T	1.37:g.152732303A>T	ENSP00000475216:p.Gln80Leu						p.Q80L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	297	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		80			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.239A>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	A	9.894	1.205052	0.22205	.	.	ENSG00000203786	ENST00000368773	T	0.12672	2.66	4.63	2.0	0.26442	.	0.714117	0.12130	N	0.496871	T	0.05640	0.0148	M	0.62723	1.935	0.09310	N	1	P	0.36535	0.557	B	0.32864	0.154	T	0.22103	-1.0226	10	0.59425	D	0.04	-0.0916	8.2371	0.31634	0.5987:0.4013:0.0:0.0	.	80	Q5T749	KPRP_HUMAN	L	80	ENSP00000357762:Q80L	ENSP00000357762:Q80L	Q	+	2	0	KPRP	150998927	0.001000	0.12720	0.002000	0.10522	0.379000	0.30106	1.045000	0.30341	0.834000	0.34852	0.533000	0.62120	CAG		0.557	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		20	345	0	0	0	0.007413	0	20	345				
LCE1E	353135	broad.mit.edu	37	1	152759971	152759971	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152759971G>T	ENST00000368770.3	+	2	249	c.196G>T	c.(196-198)Ggc>Tgc	p.G66C	LCE1E_ENST00000368771.1_Missense_Mutation_p.G66C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	66	Cys-rich.				keratinization (GO:0031424)			p.G66C(1)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.672																																							uc001fan.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GGC>TGC		late cornified envelope 1E							36.0	46.0	42.0					1																	152759971		2203	4299	6502	SO:0001583	missense	353135				keratinization			g.chr1:152759971G>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.196G>T	1.37:g.152759971G>T	ENSP00000357759:p.Gly66Cys						p.G66C	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	249	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.196G>T	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	7.833	0.720303	0.15372	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.04083	3.71;3.71	3.46	1.46	0.22682	.	0.000000	0.34802	N	0.003667	T	0.07503	0.0189	M	0.87682	2.9	0.23845	N	0.996689	D	0.65815	0.995	P	0.57548	0.823	T	0.07271	-1.0781	10	0.87932	D	0	.	6.1481	0.20296	0.2476:0.0:0.7524:0.0	.	66	Q5T753	LCE1E_HUMAN	C	66	ENSP00000357760:G66C;ENSP00000357759:G66C	ENSP00000357759:G66C	G	+	1	0	LCE1E	151026595	0.814000	0.29104	0.880000	0.34516	0.964000	0.63967	0.470000	0.22084	0.242000	0.21303	0.514000	0.50259	GGC		0.672	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		11	81	1	0	0.000151284	0.001855	0.0001717	11	81				
LCE1C	353133	broad.mit.edu	37	1	152777761	152777761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152777761C>A	ENST00000607093.1	-	1	193	c.194G>T	c.(193-195)gGg>gTg	p.G65V	LCE1C_ENST00000368768.1_Missense_Mutation_p.G65V			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization (GO:0031424)			p.G65V(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCATCCCCCAGAGCTGGA	0.662																																							uc001fap.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGG>GTG		late cornified envelope 1C							40.0	46.0	44.0					1																	152777761		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777761C>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.194G>T	1.37:g.152777761C>A	ENSP00000475270:p.Gly65Val						p.G65V	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	245	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.194G>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685277	0.14973	.	.	ENSG00000197084	ENST00000368768	T	0.05649	3.41	3.32	2.38	0.29361	.	0.000000	0.34411	N	0.003997	T	0.10551	0.0258	M	0.80616	2.505	0.44595	D	0.997569	D	0.61080	0.989	P	0.59948	0.866	T	0.01273	-1.1399	10	0.87932	D	0	.	7.0586	0.25113	0.0:0.8617:0.0:0.1383	.	65	Q5T751	LCE1C_HUMAN	V	65	ENSP00000357757:G65V	ENSP00000357757:G65V	G	-	2	0	LCE1C	151044385	0.492000	0.26027	0.843000	0.33291	0.808000	0.45660	0.995000	0.29706	0.707000	0.31934	0.596000	0.82720	GGG		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		35	92	1	0	1.41504e-22	0.002852	2.60261e-22	35	92				
NUP210L	91181	broad.mit.edu	37	1	154099789	154099789	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:154099789C>T	ENST00000368559.3	-	9	1254	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	NUP210L_ENST00000271854.3_Missense_Mutation_p.D395N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	395					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.D395N(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGACTCACATCTGAAATATAG	0.408																																							uc001fdw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1183-1185)GAT>AAT		nucleoporin 210kDa-like isoform 1							91.0	86.0	88.0					1																	154099789		1831	4087	5918	SO:0001583	missense	91181					integral to membrane		g.chr1:154099789C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1183G>A	1.37:g.154099789C>T	ENSP00000357547:p.Asp395Asn					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.D395N	p.D395N	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		9	1255	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		395					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1183G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291423	0.40494	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05382	3.45;3.45	4.7	3.77	0.43336	.	0.103207	0.42420	N	0.000703	T	0.04272	0.0118	M	0.74647	2.275	0.39890	D	0.973752	B;B	0.11235	0.004;0.003	B;B	0.10450	0.004;0.005	T	0.08066	-1.0740	10	0.42905	T	0.14	-8.5349	11.1954	0.48709	0.0:0.9123:0.0:0.0877	.	395;395	E7EP56;Q5VU65	.;P210L_HUMAN	N	395	ENSP00000357547:D395N;ENSP00000271854:D395N	ENSP00000271854:D395N	D	-	1	0	NUP210L	152366413	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	3.391000	0.52530	1.173000	0.42796	0.561000	0.74099	GAT		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		14	74	0	0	0	0.00245	0	14	74				
PBXIP1	57326	broad.mit.edu	37	1	154919271	154919271	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:154919271C>G	ENST00000368463.3	-	10	950	c.879G>C	c.(877-879)aaG>aaC	p.K293N	PBXIP1_ENST00000368465.1_Missense_Mutation_p.K264N|PBXIP1_ENST00000542459.1_Missense_Mutation_p.K138N|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.K120N	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	293					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.K293N(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGCTCTTCCTTTTGGGCCT	0.542																																							uc001ffr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(877-879)AAG>AAC		pre-B-cell leukemia homeobox interacting protein							43.0	43.0	43.0					1																	154919271		2051	4055	6106	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154919271C>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.879G>C	1.37:g.154919271C>G	ENSP00000357448:p.Lys293Asn					PBXIP1_uc001ffs.2_Missense_Mutation_p.K264N|PBXIP1_uc010pep.1_Missense_Mutation_p.K138N	p.K293N	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	938	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		293			Potential.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.879G>C	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795595	0.50208	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.15487	2.42;2.47;2.48;2.48	4.88	2.86	0.33363	.	0.755705	0.12749	N	0.442339	T	0.23330	0.0564	M	0.69823	2.125	0.45415	D	0.998395	D	0.89917	1.0	D	0.91635	0.999	T	0.03910	-1.0993	10	0.51188	T	0.08	-28.2234	5.6738	0.17737	0.0:0.603:0.0:0.397	.	293	Q96AQ6	PBIP1_HUMAN	N	264;293;293;120;69;138	ENSP00000357450:K264N;ENSP00000357448:K293N;ENSP00000440142:K120N;ENSP00000438584:K138N	ENSP00000295523:K293N	K	-	3	2	PBXIP1	153185895	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	0.668000	0.25127	0.516000	0.28340	0.563000	0.77884	AAG		0.542	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		16	164	0	0	0	0.007413	0	16	164				
TRIM46	80128	broad.mit.edu	37	1	155145212	155145212	+	5'Flank	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:155145212A>G	ENST00000334634.4	+	0	0				TRIM46_ENST00000392451.2_5'Flank|RP11-201K10.3_ENST00000473363.2_Silent_p.C121C|TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000368385.4_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000545012.1_5'Flank|KRTCAP2_ENST00000295682.4_Splice_Site	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGGAGGATACAGTGAGCGA	0.627																																							uc001fho.2		NA																	1	Unknown(1)		lung(1)		0						c.e2+1		keratinocyte associated protein 2							73.0	72.0	72.0					1																	155145212		2203	4300	6503	SO:0001631	upstream_gene_variant	200185					integral to membrane		g.chr1:155145212A>G		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145212A>G	Exception_encountered					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Splice_Site_p.T79_splice|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	p.T79_splice	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	263	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Splice_Site	SNP	ENST00000334634.4	37	c.237_splice	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078009	0.55753	.	.	ENSG00000163463	ENST00000295682	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.401	0.49871	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRTCAP2	153411836	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	5.221000	0.65272	2.254000	0.74563	0.482000	0.46254	.		0.627	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		31	98	0	0	0	0.003755	0	31	98				
SCAMP3	10067	broad.mit.edu	37	1	155228631	155228631	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:155228631T>G	ENST00000302631.3	-	5	610	c.503A>C	c.(502-504)tAc>tCc	p.Y168S	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Missense_Mutation_p.Y142S	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	168					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.Y168S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGAGGTAGTACATGGTGGA	0.488																																							uc001fjs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(502-504)TAC>TCC		secretory carrier membrane protein 3 isoform 1							153.0	164.0	160.0					1																	155228631		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155228631T>G	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.503A>C	1.37:g.155228631T>G	ENSP00000307275:p.Tyr168Ser					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_Missense_Mutation_p.Y15S|SCAMP3_uc001fju.2_Missense_Mutation_p.Y154S|SCAMP3_uc001fjv.2_Missense_Mutation_p.Y168S|SCAMP3_uc001fjt.2_Missense_Mutation_p.Y142S	p.Y168S	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	756	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		168			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.503A>C	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.511964	0.85389	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.20069	2.1;2.1	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.46151	0.1378	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.58624	-0.7604	10	0.87932	D	0	-20.0345	12.8738	0.57980	0.0:0.0:0.0:1.0	.	168;142;168	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	S	168;142	ENSP00000307275:Y168S;ENSP00000347540:Y142S	ENSP00000307275:Y168S	Y	-	2	0	SCAMP3	153495255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.560000	0.82277	2.144000	0.66660	0.533000	0.62120	TAC		0.488	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		101	384	0	0	0	0.00361	0	101	384				
BCAN	63827	broad.mit.edu	37	1	156622600	156622600	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156622600C>A	ENST00000329117.5	+	8	2194	c.1858C>A	c.(1858-1860)Cca>Aca	p.P620T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P620T	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	620					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.P620T(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)					AAGAACTGCCCCAGCAGGGAC	0.652																																							uc001fpp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1858-1860)CCA>ACA		brevican isoform 1							33.0	33.0	33.0					1																	156622600		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622600C>A	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.1858C>A	1.37:g.156622600C>A	ENSP00000331210:p.Pro620Thr					BCAN_uc001fpo.2_Missense_Mutation_p.P620T	p.P620T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2194	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		620					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1858C>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251365	0.59212	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.15139	2.45;3.11	4.3	4.3	0.51218	.	0.548061	0.13735	N	0.366395	T	0.08088	0.0202	N	0.24115	0.695	0.27774	N	0.943382	P;P	0.50272	0.651;0.933	B;P	0.47346	0.154;0.544	T	0.13415	-1.0510	10	0.38643	T	0.18	-1.7499	13.6025	0.62029	0.0:1.0:0.0:0.0	.	620;620	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	T	620	ENSP00000331210:P620T;ENSP00000354925:P620T	ENSP00000331210:P620T	P	+	1	0	BCAN	154889224	0.137000	0.22531	0.998000	0.56505	0.889000	0.51656	1.315000	0.33608	2.225000	0.72522	0.455000	0.32223	CCA		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		17	69	1	0	8.81451e-21	0.008871	1.59732e-20	17	69				
HDGF	3068	broad.mit.edu	37	1	156714928	156714928	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156714928C>A	ENST00000357325.5	-	3	489	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	HDGF_ENST00000368206.5_Missense_Mutation_p.G75C|HDGF_ENST00000537739.1_Missense_Mutation_p.G59C|HDGF_ENST00000416666.2_Missense_Mutation_p.G27C|HDGF_ENST00000368209.5_Missense_Mutation_p.G52C|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	59	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.G59C(1)|p.G75C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCTTTGGGGCCCAGGAATGCC	0.582																																							uc001fpy.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(175-177)GGC>TGC		hepatoma-derived growth factor isoform a							79.0	72.0	75.0					1																	156714928		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714928C>A	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.175G>T	1.37:g.156714928C>A	ENSP00000349878:p.Gly59Cys					HDGF_uc009wsd.2_Missense_Mutation_p.G27C|HDGF_uc001fpz.3_Missense_Mutation_p.G52C|HDGF_uc009wse.2_Missense_Mutation_p.G75C|HDGF_uc010phr.1_Missense_Mutation_p.G75C|HDGF_uc009wsf.2_Missense_Mutation_p.G27C|HDGF_uc009wsg.2_Missense_Mutation_p.G59C	p.G59C	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	3	497	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	59			PWWP.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.175G>T	CCDS1156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.37|17.37	3.372595|3.372595	0.61624|0.61624	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206|ENST00000406805	T;T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53;-0.53|.	4.51|4.51	3.6|3.6	0.41247|0.41247	PWWP (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69251|0.69251	0.3090|0.3090	M|M	0.88310|0.88310	2.945|2.945	0.37332|0.37332	D|D	0.910013|0.910013	D;D;D;D;D|.	0.76494|.	0.999;0.981;0.999;0.999;0.999|.	D;D;D;D;D|.	0.76575|.	0.964;0.977;0.964;0.964;0.988|.	T|T	0.74134|0.74134	-0.3763|-0.3763	10|5	0.87932|.	D|.	0|.	-9.8232|-9.8232	9.8945|9.8945	0.41309|0.41309	0.0:0.9004:0.0:0.0996|0.0:0.9004:0.0:0.0996	.|.	27;59;75;52;59|.	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858|.	.;.;.;.;HDGF_HUMAN|.	C|C	59;52;59;27;75|58	ENSP00000349878:G59C;ENSP00000357192:G52C;ENSP00000443120:G59C;ENSP00000416752:G27C;ENSP00000357189:G75C|.	ENSP00000349878:G59C|.	G|W	-|-	1|3	0|0	HDGF|HDGF	154981552|154981552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	5.881000|5.881000	0.69706|0.69706	1.149000|1.149000	0.42402|0.42402	0.306000|0.306000	0.20318|0.20318	GGC|TGG		0.582	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		12	56	1	0	5.50884e-06	0.001368	6.62272e-06	12	56				
INSRR	3645	broad.mit.edu	37	1	156818752	156818752	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156818752G>T	ENST00000368195.3	-	7	1928	c.1532C>A	c.(1531-1533)gCc>gAc	p.A511D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	511	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A511D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGTCGCGGGCCTCCAGTGG	0.677																																							uc010pht.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1531-1533)GCC>GAC		insulin receptor-related receptor precursor							19.0	20.0	20.0					1																	156818752		2200	4298	6498	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156818752G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1532C>A	1.37:g.156818752G>T	ENSP00000357178:p.Ala511Asp					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.A511D	NM_014215	NP_055030	P14616	INSRR_HUMAN			7	1786	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		511			Fibronectin type-III 1.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1532C>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033133	0.54896	.	.	ENSG00000027644	ENST00000368195	T	0.68903	-0.36	4.75	4.75	0.60458	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000201	T	0.48978	0.1530	.	.	.	0.36819	D	0.886315	P	0.44195	0.828	B	0.42062	0.374	T	0.55805	-0.8083	9	0.42905	T	0.14	.	12.3792	0.55297	0.0:0.1699:0.8301:0.0	.	511	P14616	INSRR_HUMAN	D	511	ENSP00000357178:A511D	ENSP00000357178:A511D	A	-	2	0	INSRR	155085376	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.474000	0.53129	2.490000	0.84030	0.561000	0.74099	GCC		0.677	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		3	16	1	0	0.004672	0.004672	0.00494328	3	16				
ETV3L	440695	broad.mit.edu	37	1	157062580	157062580	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157062580G>T	ENST00000454449.2	-	5	1231	c.947C>A	c.(946-948)cCc>cAc	p.P316H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	316					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P316H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTCCATCATGGGAGCAGGCTT	0.607																																							uc001fqq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(946-948)CCC>CAC		ets variant 3-like							59.0	58.0	58.0					1																	157062580		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062580G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.947C>A	1.37:g.157062580G>T	ENSP00000430271:p.Pro316His						p.P316H	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			5	1232	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	316						Missense_Mutation	SNP	ENST00000454449.2	37	c.947C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729071	0.30684	.	.	ENSG00000253831	ENST00000454449	T	0.34472	1.36	4.06	0.731	0.18277	.	.	.	.	.	T	0.12220	0.0297	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.46543	0.52	T	0.06770	-1.0808	9	0.72032	D	0.01	.	4.2851	0.10851	0.2319:0.0:0.5824:0.1856	.	316	Q6ZN32	ETV3L_HUMAN	H	316	ENSP00000430271:P316H	ENSP00000430271:P316H	P	-	2	0	ETV3L	155329204	0.002000	0.14202	0.005000	0.12908	0.070000	0.16714	0.380000	0.20602	0.328000	0.23435	0.561000	0.74099	CCC		0.607	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		23	66	1	0	7.92952e-12	0.003954	1.20878e-11	23	66				
FCRL4	83417	broad.mit.edu	37	1	157555977	157555977	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157555977C>G	ENST00000271532.1	-	6	1251	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	372	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V372V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACATTCAGCACCATGCTCT	0.493											OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																											uc001fqw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1114-1116)GTG>GTC		Fc receptor-like 4 precursor							104.0	92.0	96.0					1																	157555977		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157555977C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1116G>C	1.37:g.157555977C>G			OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1787	FCRL4_uc010phy.1_RNA	p.V372V	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1252	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	372			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1116G>C	CCDS1166.1																																																																																				0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		41	95	0	0	0	0.002522	0	41	95				
CD5L	922	broad.mit.edu	37	1	157803248	157803248	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157803248T>A	ENST00000368174.4	-	5	869	c.773A>T	c.(772-774)gAg>gTg	p.E258V	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	258	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.E258V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGCAGCACCTCCAGTCGCCC	0.567																																							uc001frk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)GAG>GTG		CD5 molecule-like precursor							118.0	122.0	120.0					1																	157803248		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803248T>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.773A>T	1.37:g.157803248T>A	ENSP00000357156:p.Glu258Val						p.E258V	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	916	-	all_hematologic(112;0.0378)		258			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.773A>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361774	0.61403	.	.	ENSG00000073754	ENST00000368174	T	0.49139	0.79	4.94	2.39	0.29439	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.324879	0.27134	N	0.020775	T	0.67618	0.2912	H	0.97896	4.1	0.32698	N	0.513221	D	0.89917	1.0	D	0.75484	0.986	T	0.69304	-0.5180	10	0.87932	D	0	.	6.6311	0.22857	0.1536:0.0:0.1554:0.6909	.	258	O43866	CD5L_HUMAN	V	258	ENSP00000357156:E258V	ENSP00000357156:E258V	E	-	2	0	CD5L	156069872	1.000000	0.71417	0.115000	0.21578	0.744000	0.42396	2.623000	0.46435	0.228000	0.21019	0.533000	0.62120	GAG		0.567	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		29	210	0	0	0	0.007291	0	29	210				
CD1C	911	broad.mit.edu	37	1	158262614	158262614	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158262614G>T	ENST00000368170.3	+	4	1118	c.839G>T	c.(838-840)tGt>tTt	p.C280F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	280	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.C280F(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGCCTGTCTTGTCGAGTGAGA	0.522																																							uc001fru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(838-840)TGT>TTT		CD1C antigen precursor							95.0	88.0	90.0					1																	158262614		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262614G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.839G>T	1.37:g.158262614G>T	ENSP00000357152:p.Cys280Phe					CD1C_uc001frv.2_Missense_Mutation_p.C83F	p.C280F	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	1131	+	all_hematologic(112;0.0378)		280			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.839G>T	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.85|12.85	2.062360|2.062360	0.36373|0.36373	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	D|.	0.95342|.	-3.68|.	3.93|3.93	3.01|3.01	0.34805|0.34805	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.000000|.	0.42053|.	D|.	0.000770|.	T|T	0.76821|0.76821	0.4041|0.4041	H|H	0.99867|0.99867	4.865|4.865	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.69745|0.69745	-0.5062|-0.5062	10|5	0.87932|.	D|.	0|.	.|.	7.6172|7.6172	0.28165|0.28165	0.1184:0.0:0.8816:0.0|0.1184:0.0:0.8816:0.0	.|.	280;280|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	F|F	280;280;83|214	ENSP00000357152:C280F|.	ENSP00000357151:C280F|.	C|L	+|+	2|3	0|2	CD1C|CD1C	156529238|156529238	0.710000|0.710000	0.27896|0.27896	0.011000|0.011000	0.14972|0.14972	0.009000|0.009000	0.06853|0.06853	2.581000|2.581000	0.46077|0.46077	1.003000|1.003000	0.39130|0.39130	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.522	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		11	67	1	0	6.42651e-13	0.000978	1.01831e-12	11	67				
OR6Y1	391112	broad.mit.edu	37	1	158517593	158517593	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158517593G>T	ENST00000302617.3	-	1	302	c.303C>A	c.(301-303)ggC>ggA	p.G101G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G101G(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAGTCATGCAGCCATTGAAGG	0.453																																							uc010pil.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(301-303)GGC>GGA		olfactory receptor, family 6, subfamily Y,							139.0	130.0	133.0					1																	158517593		2202	4300	6502	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517593G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.303C>A	1.37:g.158517593G>T							p.G101G	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	303	-	all_hematologic(112;0.0378)		101			Extracellular (Potential).		Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.303C>A	CCDS30899.1																																																																																				0.453	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		15	125	1	0	4.7546e-09	0.004007	6.5434e-09	15	125				
OR10Z1	128368	broad.mit.edu	37	1	158576967	158576967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158576967G>C	ENST00000361284.1	+	1	739	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V247L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCACCTTACAGTGGTCATTAT	0.507																																							uc010pio.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(739-741)GTG>CTG		olfactory receptor, family 10, subfamily Z,							199.0	200.0	200.0					1																	158576967		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576967G>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.739G>C	1.37:g.158576967G>C	ENSP00000354707:p.Val247Leu						p.V247L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	739	+	all_hematologic(112;0.0378)		247			Helical; Name=6; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.739G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730163	0.89390	.	.	ENSG00000198967	ENST00000361284	T	0.00216	8.53	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002120	T	0.00468	0.0015	H	0.94503	3.545	0.47441	D	0.99942	P	0.51791	0.948	P	0.58331	0.837	T	0.61907	-0.6966	10	0.72032	D	0.01	.	17.7777	0.88514	0.0:0.0:1.0:0.0	.	247	Q8NGY1	O10Z1_HUMAN	L	247	ENSP00000354707:V247L	ENSP00000354707:V247L	V	+	1	0	OR10Z1	156843591	0.173000	0.23056	0.978000	0.43139	0.777000	0.43975	2.582000	0.46085	2.722000	0.93159	0.650000	0.86243	GTG		0.507	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		59	213	0	0	0	0.00361	0	59	213				
SPTA1	6708	broad.mit.edu	37	1	158644206	158644207	+	Nonsense_Mutation	DNP	AG	AG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158644206_158644207AG>TT	ENST00000368147.4	-	10	1442_1443	c.1262_1263CT>AA	c.(1261-1263)tCT>tAA	p.S421*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	421					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.S421*(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)					GGTCATCGTAAGAGTCAATCTC	0.45																																							uc001fst.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1261-1263)TCT>TAA		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.chr1:158644206_158644207AG>TT	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.1262_1263delinsTT	1.37:g.158644206_158644207delinsTT	ENSP00000357129:p.Ser421*						p.S421*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			10	1461_1462	-	all_hematologic(112;0.0378)		421			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	DNP	ENST00000368147.4	37	c.1262_1263CT>AA	CCDS41423.1																																																																																				0.450	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	157	0	0	0	0.004672	0	19	157				
OR6K2	81448	broad.mit.edu	37	1	158669885	158669885	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158669885C>G	ENST00000359610.2	-	1	601	c.558G>C	c.(556-558)ctG>ctC	p.L186L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L186L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGTGCAGGCCAGACGCAGCA	0.488																																							uc001fsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(556-558)CTG>CTC		olfactory receptor, family 6, subfamily K,							139.0	116.0	124.0					1																	158669885		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669885C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.558G>C	1.37:g.158669885C>G							p.L186L	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	558	-	all_hematologic(112;0.0378)		186			Extracellular (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.558G>C	CCDS30902.1																																																																																				0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		18	90	0	0	0	0.008871	0	18	90				
OR10J3	441911	broad.mit.edu	37	1	159283598	159283598	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:159283598A>G	ENST00000332217.5	-	1	851	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGGTTCAGTAGGGGAGTGAT	0.507																																							uc010piu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(850-852)CCT>CCC		olfactory receptor, family 10, subfamily J,							121.0	105.0	110.0					1																	159283598		2203	4300	6503	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283598A>G		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.852T>C	1.37:g.159283598A>G							p.P284P	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	852	-	all_hematologic(112;0.0429)		284			Helical; Name=7; (Potential).			Silent	SNP	ENST00000332217.5	37	c.852T>C	CCDS30909.1																																																																																				0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			10	167	0	0	0	0.000978	0	10	167				
VANGL2	57216	broad.mit.edu	37	1	160389247	160389247	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160389247G>T	ENST00000368061.2	+	4	1122	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	216					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.V216V(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)			AGGGCGTGGTGCAGTTCGCCG	0.622																																							uc001fwb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(646-648)GTG>GTT		vang-like 2							125.0	113.0	117.0					1																	160389247		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389247G>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.648G>T	1.37:g.160389247G>T						VANGL2_uc001fwc.1_Silent_p.V216V	p.V216V	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	947	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		216			Extracellular (Potential).		D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.648G>T	CCDS30915.1																																																																																				0.622	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		18	224	1	0	4.35082e-09	0.010504	6.01715e-09	18	224				
SLAMF7	57823	broad.mit.edu	37	1	160719714	160719714	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160719714G>T	ENST00000368043.3	+	3	517	c.480G>T	c.(478-480)gtG>gtT	p.V160V	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.V53V|SLAMF7_ENST00000458104.2_Silent_p.V53V|SLAMF7_ENST00000359331.4_Silent_p.V160V|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Silent_p.V53V	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	160	Ig-like C2-type.				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.V160V(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)			AAGAGGATGTGATTTATACCT	0.507																																							uc001fwq.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(478-480)GTG>GTT		SLAM family member 7							105.0	106.0	106.0					1																	160719714		2203	4300	6503	SO:0001819	synonymous_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160719714G>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.480G>T	1.37:g.160719714G>T						SLAMF7_uc010pjn.1_Silent_p.V53V|SLAMF7_uc001fws.2_Silent_p.V53V|SLAMF7_uc001fwr.2_Silent_p.V160V|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Silent_p.V53V|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Silent_p.V53V	p.V160V	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	495	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		160			Ig-like C2-type.|Extracellular (Potential).		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Silent	SNP	ENST00000368043.3	37	c.480G>T	CCDS1209.1																																																																																				0.507	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		22	205	1	0	1.50039e-11	0.001882	2.26613e-11	22	205				
ITLN1	55600	broad.mit.edu	37	1	160849175	160849175	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160849175T>A	ENST00000326245.3	-	7	830	c.715A>T	c.(715-717)Agg>Tgg	p.R239W	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	239	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.R239W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAAATACCCTGAACTGAACA	0.498																																							uc001fxc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(715-717)AGG>TGG		intelectin precursor							132.0	113.0	120.0					1																	160849175		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160849175T>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.715A>T	1.37:g.160849175T>A	ENSP00000323587:p.Arg239Trp						p.R239W	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	831	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		239			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.715A>T	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535111	0.64972	.	.	ENSG00000179914	ENST00000326245	T	0.24151	1.87	3.96	-0.311	0.12761	.	0.000000	0.64402	D	0.000014	T	0.21509	0.0518	M	0.79926	2.475	0.45318	D	0.998314	B	0.31485	0.325	B	0.39971	0.315	T	0.21621	-1.0240	10	0.87932	D	0	-14.3991	11.0797	0.48053	0.0:0.0:0.6814:0.3186	.	239	Q8WWA0	ITLN1_HUMAN	W	239	ENSP00000323587:R239W	ENSP00000323587:R239W	R	-	1	2	ITLN1	159115799	0.995000	0.38212	0.987000	0.45799	0.998000	0.95712	0.681000	0.25320	0.071000	0.16664	0.533000	0.62120	AGG		0.498	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		23	255	0	0	0	0.001882	0	23	255				
OLFML2B	25903	broad.mit.edu	37	1	161987227	161987227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:161987227G>T	ENST00000294794.3	-	3	932	c.509C>A	c.(508-510)aCc>aAc	p.T170N	OLFML2B_ENST00000367940.2_Missense_Mutation_p.T170N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	170					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.T170N(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)			CAGTTTGGTGGTGACTGAATG	0.463																																							uc001gbu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(508-510)ACC>AAC		olfactomedin-like 2B precursor							117.0	117.0	117.0					1																	161987227		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161987227G>T	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.509C>A	1.37:g.161987227G>T	ENSP00000294794:p.Thr170Asn					OLFML2B_uc010pkq.1_Missense_Mutation_p.T170N	p.T170N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	933	-	all_hematologic(112;0.156)		170					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.509C>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130868	0.77549	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.44881	0.91;0.91	5.27	5.27	0.74061	.	.	.	.	.	T	0.51024	0.1650	L	0.48642	1.525	0.43145	D	0.994902	D;D	0.89917	1.0;1.0	D;D	0.79108	0.963;0.992	T	0.53472	-0.8434	8	0.87932	D	0	.	16.4462	0.83935	0.0:0.0:1.0:0.0	.	170;170	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	N	170	ENSP00000294794:T170N;ENSP00000356917:T170N	ENSP00000294794:T170N	T	-	2	0	OLFML2B	160253851	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.199000	0.77831	2.735000	0.93741	0.655000	0.94253	ACC		0.463	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		12	143	1	0	0.000422831	0.004007	0.000470131	12	143				
DDR2	4921	broad.mit.edu	37	1	162724443	162724443	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:162724443G>T	ENST00000367922.3	+	6	653	c.215G>T	c.(214-216)tGg>tTg	p.W72L	DDR2_ENST00000367921.3_Missense_Mutation_p.W72L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W72L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATGGAGCCTGGTGCCCTGAG	0.552																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(214-216)TGG>TTG		discoidin domain receptor family, member 2							94.0	96.0	95.0					1																	162724443		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724443G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.215G>T	1.37:g.162724443G>T	ENSP00000356899:p.Trp72Leu					DDR2_uc001gcg.2_Missense_Mutation_p.W72L	p.W72L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		6	680	+	all_hematologic(112;0.115)		72			Extracellular (Potential).|F5/8 type C.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.215G>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.007117	0.93287	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.99875	-7.4;-7.4;-7.4;-7.4	5.37	5.37	0.77165	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99919	0.9962	H	0.95917	3.74	0.43593	D	0.995946	D	0.89917	1.0	D	0.97110	1.0	D	0.96127	0.9089	9	0.87932	D	0	.	17.6718	0.88220	0.0:0.0:1.0:0.0	.	72	Q16832	DDR2_HUMAN	L	72	ENSP00000400309:W72L;ENSP00000391310:W72L;ENSP00000356899:W72L;ENSP00000356898:W72L	ENSP00000356898:W72L	W	+	2	0	DDR2	160991067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.501000	0.84356	0.650000	0.86243	TGG		0.552	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		44	110	1	0	7.88023e-25	0.00361	1.47138e-24	44	110				
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:163122409G>T	ENST00000313961.5	-	4	592	c.315C>A	c.(313-315)tcC>tcA	p.S105S	RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000530507.1_Silent_p.S105S|RGS5_ENST00000534288.1_5'Flank|RGS5_ENST00000367903.3_Silent_p.S125S	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	105	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S105S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448																																							uc001gcn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)TCC>TCA		regulator of G-protein signalling 5							177.0	178.0	177.0					1																	163122409		2203	4299	6502	SO:0001819	synonymous_variant	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163122409G>T	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.315C>A	1.37:g.163122409G>T						RGS5_uc009wvb.2_RNA	p.S105S	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		4	562	-			105			RGS.		E9PMP5|Q53XA9|Q599J0	Silent	SNP	ENST00000313961.5	37	c.315C>A	CCDS1244.1																																																																																				0.448	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		72	219	1	0	1.43987e-31	0.00361	2.78082e-31	72	219				
RXRG	6258	broad.mit.edu	37	1	165380317	165380317	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:165380317C>G	ENST00000359842.5	-	5	954	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	218	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E218Q(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TCAGCTCGCTCTCGGCTCCTC	0.493																																							uc001gda.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GAG>CAG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						146.0	114.0	125.0					1																	165380317		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380317C>G	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.652G>C	1.37:g.165380317C>G	ENSP00000352900:p.Glu218Gln						p.E218Q	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	952	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		218			Hinge.		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.652G>C	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487610	0.84854	.	.	ENSG00000143171	ENST00000359842	T	0.70869	-0.52	4.53	4.53	0.55603	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.93283	3.4	0.49687	D	0.999816	D	0.69078	0.997	D	0.75484	0.986	D	0.83886	0.0282	9	0.13470	T	0.59	.	16.0032	0.80310	0.0:1.0:0.0:0.0	.	218	P48443	RXRG_HUMAN	Q	218	ENSP00000352900:E218Q	ENSP00000352900:E218Q	E	-	1	0	RXRG	163646941	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.403000	0.79983	2.328000	0.79073	0.563000	0.77884	GAG		0.493	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		7	76	0	0	0	0.000978	0	7	76				
LRRC52	440699	broad.mit.edu	37	1	165532902	165532902	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:165532902G>T	ENST00000294818.1	+	2	1073	c.783G>T	c.(781-783)gtG>gtT	p.V261V	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	261					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGGGAACTGTGGCTGCCTGGC	0.577																																							uc001gde.2		NA																	0				ovary(1)	1						c.(781-783)GTG>GTT		leucine rich repeat containing 52 precursor							65.0	55.0	58.0					1																	165532902		2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165532902G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.783G>T	1.37:g.165532902G>T						LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.V261V	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	839	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		261			Helical; (Potential).		A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.783G>T	CCDS30930.1																																																																																				0.577	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		5	33	1	0	0.00198382	0.001984	0.00212876	5	33				
UCK2	7371	broad.mit.edu	37	1	165877060	165877060	+	Nonstop_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:165877060A>T	ENST00000367879.4	+	7	1089	c.786A>T	c.(784-786)tgA>tgT	p.*262C	UCK2_ENST00000470820.1_Nonstop_Mutation_p.*112C|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Nonstop_Mutation_p.*112C	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	0					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.*262C(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)					GGCCGCATTGACCCGTCTCCA	0.567																																							uc001gdp.2		NA																	1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(784-786)TGA>TGT		uridine-cytidine kinase 2							78.0	74.0	76.0					1																	165877060		2203	4300	6503	SO:0001578	stop_lost	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165877060A>T	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	ENST00000367879.4:c.786A>T	1.37:g.165877060A>T	ENSP00000356853:p.*262Cysext*41					UCK2_uc010plb.1_Nonstop_Mutation_p.*124C	p.*262C	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			7	967	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		262					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Nonstop_Mutation	SNP	ENST00000367879.4	37	c.786A>T	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249613	0.59212	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8242	0.52256	1.0:0.0:0.0:0.0	.	.	.	.	C	262	.	.	X	+	3	0	UCK2	164143684	1.000000	0.71417	0.996000	0.52242	0.549000	0.35272	6.205000	0.72148	2.044000	0.60594	0.533000	0.62120	TGA		0.567	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		8	91	0	0	0	0.008291	0	8	91				
DCAF6	55827	broad.mit.edu	37	1	167974027	167974027	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:167974027G>C	ENST00000312263.6	+	10	1578	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H	DCAF6_ENST00000367840.3_Missense_Mutation_p.Q458H|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q458H|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q427H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	458					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q458H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CACATCATCAGTCTGGTGAGG	0.398																																							uc001gew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1372-1374)CAG>CAC		IQ motif and WD repeats 1 isoform b							78.0	74.0	75.0					1																	167974027		2203	4298	6501	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167974027G>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1374G>C	1.37:g.167974027G>C	ENSP00000311949:p.Gln458His					DCAF6_uc001gev.2_Missense_Mutation_p.Q458H|DCAF6_uc001gex.2_Missense_Mutation_p.Q458H|DCAF6_uc010plk.1_Missense_Mutation_p.Q427H|DCAF6_uc001gey.2_Missense_Mutation_p.Q311H	p.Q458H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			10	1616	+			458					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1374G>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990865	0.54041	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;D;T	0.82344	-1.48;0.27;-1.6;-1.48	5.17	3.27	0.37495	WD40 repeat-like-containing domain (1);	0.159990	0.43919	D	0.000501	T	0.76941	0.4058	N	0.24115	0.695	0.35965	D	0.834903	D;D;D;D	0.71674	0.99;0.998;0.965;0.996	D;D;P;D	0.80764	0.979;0.994;0.541;0.914	T	0.78204	-0.2295	9	0.44086	T	0.13	.	10.7223	0.46046	0.1518:0.0:0.8482:0.0	.	427;458;458;458	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	H	458;427;458;458	ENSP00000356817:Q458H;ENSP00000396238:Q427H;ENSP00000311949:Q458H;ENSP00000356814:Q458H	ENSP00000311949:Q458H	Q	+	3	2	DCAF6	166240651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.546000	0.53656	0.648000	0.30732	0.555000	0.69702	CAG		0.398	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		9	60	0	0	0	0.008291	0	9	60				
F5	2153	broad.mit.edu	37	1	169526046	169526046	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:169526046G>T	ENST00000367797.3	-	6	991	c.790C>A	c.(790-792)Cca>Aca	p.P264T	F5_ENST00000546081.1_Missense_Mutation_p.P127T|F5_ENST00000367796.3_Missense_Mutation_p.P264T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	264	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.P264T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AATAATTCTGGCCCCGAGCTC	0.493																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(790-792)CCA>ACA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						106.0	87.0	94.0					1																	169526046		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169526046G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.790C>A	1.37:g.169526046G>T	ENSP00000356771:p.Pro264Thr					F5_uc010plr.1_RNA	p.P264T	NM_000130	NP_000121	P12259	FA5_HUMAN			6	935	-	all_hematologic(923;0.208)		264			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.790C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058994	0.93846	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98822	-5.16;-5.16;-5.16	6.07	6.07	0.98685	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	L	0.39633	1.23	0.43885	D	0.996502	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	9	0.52906	T	0.07	-16.9951	20.6439	0.99570	0.0:0.0:1.0:0.0	.	264	P12259	FA5_HUMAN	T	264;264;127	ENSP00000356771:P264T;ENSP00000356770:P264T;ENSP00000439664:P127T	ENSP00000356770:P264T	P	-	1	0	F5	167792670	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.434000	0.97515	2.890000	0.99128	0.650000	0.86243	CCA		0.493	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		16	47	1	0	2.48551e-13	0.00499	3.96071e-13	16	47				
MYOC	4653	broad.mit.edu	37	1	171621555	171621555	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:171621555T>A	ENST00000037502.6	-	1	268	c.197A>T	c.(196-198)cAg>cTg	p.Q66L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	66					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.Q66L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACATGGCCTGGCTCTGCTC	0.572																																							uc001ghu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(196-198)CAG>CTG		myocilin precursor							125.0	97.0	106.0					1																	171621555		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621555T>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.197A>T	1.37:g.171621555T>A	ENSP00000037502:p.Gln66Leu					MYOC_uc010pmk.1_Missense_Mutation_p.Q66L	p.Q66L	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	219	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		66					B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.197A>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476706	0.44044	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	T	0.58506	0.33	5.31	5.31	0.75309	.	0.087538	0.48286	D	0.000195	T	0.43831	0.1265	M	0.62723	1.935	0.38464	D	0.94728	P;D	0.53151	0.759;0.958	B;B	0.42692	0.306;0.395	T	0.52852	-0.8520	10	0.48119	T	0.1	.	11.9322	0.52853	0.0:0.0:0.0:1.0	.	66;66	B4DV44;Q99972	.;MYOC_HUMAN	L	66	ENSP00000037502:Q66L	ENSP00000037502:Q66L	Q	-	2	0	MYOC	169888178	0.998000	0.40836	1.000000	0.80357	0.176000	0.22953	1.690000	0.37711	2.128000	0.65567	0.533000	0.62120	CAG		0.572	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		10	115	0	0	0	0.000978	0	10	115				
KLHL20	27252	broad.mit.edu	37	1	173702931	173702931	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:173702931G>A	ENST00000209884.4	+	3	239	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	35					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.E35K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAAACTGCCAGAAGGGGTTCC	0.527																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)GAA>AAA		kelch-like 20							84.0	85.0	85.0					1																	173702931		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173702931G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.103G>A	1.37:g.173702931G>A	ENSP00000209884:p.Glu35Lys					KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.E17K|KLHL20_uc001gjd.2_Missense_Mutation_p.E35K	p.E35K	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			3	282	+			35					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.103G>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707605	0.48412	.	.	ENSG00000076321	ENST00000209884	T	0.69306	-0.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	N	0.14661	0.345	0.80722	D	1	P;B	0.51791	0.948;0.063	B;B	0.43701	0.428;0.016	T	0.47623	-0.9103	10	0.37606	T	0.19	.	18.7401	0.91770	0.0:0.0:1.0:0.0	.	35;35	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	K	35	ENSP00000209884:E35K	ENSP00000209884:E35K	E	+	1	0	KLHL20	171969554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.689000	0.98673	2.713000	0.92767	0.644000	0.83932	GAA		0.527	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		26	107	0	0	0	0.007291	0	26	107				
SERPINC1	462	broad.mit.edu	37	1	173883690	173883690	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:173883690C>A	ENST00000367698.3	-	2	527		c.e2+1		SERPINC1_ENST00000494024.1_Splice_Site	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1						blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TTTGGTCGTACCTCCATCAGT	0.517											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gjt.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1	GRCh37	CS011026	SERPINC1	S		c.e2+1		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						74.0	69.0	71.0					1																	173883690		2203	4300	6503	SO:0001630	splice_region_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883690C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.408+1G>T	1.37:g.173883690C>A			OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.E136_splice	NM_000488	NP_000479	P01008	ANT3_HUMAN			2	527	-								B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Splice_Site	SNP	ENST00000367698.3	37	c.408_splice	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250549	0.59212	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0569	0.93069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINC1	172150313	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.445000	0.80570	2.662000	0.90505	0.555000	0.69702	.		0.517	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488	Intron	10	90	1	0	6.40141e-05	0.000978	7.35004e-05	10	90				
PAPPA2	60676	broad.mit.edu	37	1	176526098	176526099	+	Missense_Mutation	DNP	GG	GG	TC	rs374673204		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:176526098_176526099GG>TC	ENST00000367662.3	+	2	1804_1805	c.640_641GG>TC	c.(640-642)GGt>TCt	p.G214S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G214S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	214					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)	p.G214S(2)		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						GGGAGACTCCGGTATCTCTTCA	0.569																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(640-642)GGT>TCT		pappalysin 2 isoform 1																																				SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526098_176526099GG>TC	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	Exception_encountered	1.37:g.176526098_176526099delinsTC	ENSP00000356634:p.Gly214Ser					PAPPA2_uc001gky.1_Missense_Mutation_p.G214S|PAPPA2_uc009www.2_RNA	p.G214S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1804_1805	+			214					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	DNP	ENST00000367662.3	37	c.640_641GG>TC	CCDS41438.1																																																																																				0.569	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			60	177	0	0	0	0.004672	0	60	177				
ASTN1	460	broad.mit.edu	37	1	176992707	176992707	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:176992707C>A	ENST00000367654.3	-	7	1482	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	ASTN1_ENST00000361833.2_Splice_Site_p.G424V|ASTN1_ENST00000367657.3_Splice_Site_p.G424V|ASTN1_ENST00000424564.2_Splice_Site_p.G424V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	424					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.G424V(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						GAAGCGGCTCCCTGCAGGGTG	0.552																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1270-1272)GGG>GTG		astrotactin isoform 1							39.0	36.0	37.0					1																	176992707		2203	4300	6503	SO:0001630	splice_region_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992707C>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.1271-1G>T	1.37:g.176992707C>A						ASTN1_uc001glb.1_Missense_Mutation_p.G424V|ASTN1_uc001gld.1_Missense_Mutation_p.G424V|ASTN1_uc009wwx.1_Missense_Mutation_p.G424V|ASTN1_uc001gle.3_Intron	p.G424V	NM_004319	NP_004310	O14525	ASTN1_HUMAN			7	1483	-			424					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1271G>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.348265	0.82132	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.37058	1.22;1.62;1.61;1.23	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.32530	0.975	0.80722	D	1	B;B;D	0.89917	0.336;0.15;1.0	B;B;D	0.91635	0.12;0.072;0.999	T	0.53215	-0.8470	10	0.87932	D	0	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	424;424;424	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	424	ENSP00000356629:G424V;ENSP00000354536:G424V;ENSP00000356626:G424V;ENSP00000395041:G424V	ENSP00000354536:G424V	G	-	2	0	ASTN1	175259330	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.639000	0.83342	2.726000	0.93360	0.655000	0.94253	GGG		0.552	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	Missense_Mutation	8	29	1	0	0.000274275	0.004482	0.000306341	8	29				
ASTN1	460	broad.mit.edu	37	1	177001826	177001826	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:177001826C>T	ENST00000367654.3	-	3	842	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	ASTN1_ENST00000361833.2_Missense_Mutation_p.G211R|ASTN1_ENST00000367657.3_Missense_Mutation_p.G211R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G211R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	211					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.G211R(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						CGTCCGTGCCCGCCGATCAGC	0.642																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(631-633)GGG>AGG		astrotactin isoform 1							64.0	54.0	57.0					1																	177001826		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001826C>T	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.631G>A	1.37:g.177001826C>T	ENSP00000356626:p.Gly211Arg					ASTN1_uc001glb.1_Missense_Mutation_p.G211R|ASTN1_uc001gld.1_Missense_Mutation_p.G211R|ASTN1_uc009wwx.1_Missense_Mutation_p.G211R|ASTN1_uc001gle.3_RNA	p.G211R	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	843	-			211					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.631G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.729170	0.89390	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16324	2.35;2.77;2.77;2.36	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.99;0.985	T	0.03443	-1.1036	10	0.54805	T	0.06	-32.2704	19.2616	0.93970	0.0:1.0:0.0:0.0	.	211;211;211	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	211	ENSP00000356629:G211R;ENSP00000354536:G211R;ENSP00000356626:G211R;ENSP00000395041:G211R	ENSP00000354536:G211R	G	-	1	0	ASTN1	175268449	1.000000	0.71417	0.838000	0.33150	0.804000	0.45430	5.952000	0.70282	2.614000	0.88457	0.655000	0.94253	GGG		0.642	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		27	48	0	0	0	0.004878	0	27	48				
BRINP2	57795	broad.mit.edu	37	1	177247804	177247804	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:177247804A>T	ENST00000361539.4	+	7	1430	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	373					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)	extracellular region (GO:0005576)		p.Q373L(1)									CACCGCTACCAGCAGCTGGGA	0.592																																							uc001glf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1117-1119)CAG>CTG		family with sequence similarity 5, member B							122.0	128.0	126.0					1																	177247804		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177247804A>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1118A>T	1.37:g.177247804A>T	ENSP00000354481:p.Gln373Leu					FAM5B_uc010pna.1_Missense_Mutation_p.Q123L|FAM5B_uc001glg.2_Missense_Mutation_p.Q268L	p.Q373L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			7	1430	+			373					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1118A>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129692	0.56721	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14640	2.49	5.39	5.39	0.77823	.	0.277632	0.36628	N	0.002481	T	0.18841	0.0452	L	0.47716	1.5	0.39495	D	0.968119	P;P;B	0.47253	0.892;0.481;0.118	P;B;B	0.45753	0.492;0.108;0.026	T	0.01341	-1.1380	10	0.59425	D	0.04	-20.0034	15.0755	0.72074	1.0:0.0:0.0:0.0	.	123;268;373	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	L	123;373	ENSP00000354481:Q373L	ENSP00000354481:Q373L	Q	+	2	0	FAM5B	175514427	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.160000	0.64929	2.046000	0.60703	0.533000	0.62120	CAG		0.592	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		27	290	0	0	0	0.002836	0	27	290				
RALGPS2	55103	broad.mit.edu	37	1	178846684	178846684	+	Missense_Mutation	SNP	G	G	T	rs561069653	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:178846684G>T	ENST00000367635.3	+	9	997	c.659G>T	c.(658-660)gGc>gTc	p.G220V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.G220V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	220	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G220V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCATCAACTGGCAGCATTCTA	0.328													G|||	2	0.000399361	0.0	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.002						uc001glz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(658-660)GGC>GTC		Ral GEF with PH domain and SH3 binding motif 2							87.0	88.0	88.0					1																	178846684		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178846684G>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.659G>T	1.37:g.178846684G>T	ENSP00000356607:p.Gly220Val					RALGPS2_uc001gly.1_Missense_Mutation_p.G220V|RALGPS2_uc010pnb.1_Missense_Mutation_p.G220V	p.G220V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			9	997	+			220			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.659G>T	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453267	0.84209	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.37915	1.17;1.17;1.17	5.73	5.73	0.89815	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	L	0.58428	1.81	0.80722	D	1	D;D	0.62365	0.983;0.991	D;D	0.64877	0.93;0.93	T	0.55412	-0.8145	10	0.56958	D	0.05	.	19.4864	0.95030	0.0:0.0:1.0:0.0	.	220;220	B7Z7B1;Q86X27	.;RGPS2_HUMAN	V	220;220;185	ENSP00000356607:G220V;ENSP00000356606:G220V;ENSP00000313613:G185V	ENSP00000313613:G185V	G	+	2	0	RALGPS2	177113307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.787000	0.69013	2.701000	0.92244	0.561000	0.74099	GGC		0.328	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		17	44	1	0	2.94398e-08	0.007413	3.93064e-08	17	44				
ABL2	27	broad.mit.edu	37	1	179078178	179078178	+	Missense_Mutation	SNP	C	C	A	rs564629424		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179078178C>A	ENST00000502732.1	-	12	2427	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.G706W|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.G721W|ABL2_ENST00000512653.1_Missense_Mutation_p.G727W|ABL2_ENST00000344730.3_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	742	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G706W(1)|p.G742W(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCCACCCCCAGCAGTGCCA	0.567			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		2	Substitution - Missense(2)		lung(2)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2224-2226)GGG>TGG		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						27.0	27.0	27.0					1																	179078178		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078178C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2224G>T	1.37:g.179078178C>A	ENSP00000427562:p.Gly742Trp					ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.G721W|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.G727W|ABL2_uc001gmh.3_Missense_Mutation_p.G706W|ABL2_uc010pne.1_Intron	p.G742W	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2511	-			742			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2224G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	8.332	0.826627	0.16749	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.76578	-1.03;-1.01;-1.01;-1.01	5.57	4.66	0.58398	.	0.000000	0.43110	D	0.000610	T	0.80160	0.4572	N	0.24115	0.695	0.47737	D	0.999501	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.78314	0.991;0.98;0.987;0.97	T	0.82667	-0.0344	10	0.87932	D	0	.	13.3633	0.60669	0.1575:0.8425:0.0:0.0	.	721;742;727;706	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	W	742;706;727;721	ENSP00000427562:G742W;ENSP00000386152:G706W;ENSP00000423578:G727W;ENSP00000356595:G721W	ENSP00000356595:G721W	G	-	1	0	ABL2	177344801	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.485000	0.60279	1.341000	0.45600	-0.175000	0.13238	GGG		0.567	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		19	32	1	0	3.10358e-05	0.002299	3.62483e-05	19	32				
AXDND1	126859	broad.mit.edu	37	1	179338107	179338107	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179338107G>T	ENST00000367618.3	+	3	657	c.270G>T	c.(268-270)aaG>aaT	p.K90N	AXDND1_ENST00000457238.2_Splice_Site_p.K90N|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	90								p.K90N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAACCCCAAAGGTTTGTATGT	0.348																																							uc001gmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(268-270)AAG>AAT		hypothetical protein LOC126859 isoform 1							38.0	41.0	40.0					1																	179338107		2199	4299	6498	SO:0001630	splice_region_variant	126859							g.chr1:179338107G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.270+1G>T	1.37:g.179338107G>T						C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K90N	p.K90N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			3	397	+			90					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.270G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389309	0.82902	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.49432	2.08;0.78;2.07	5.18	5.18	0.71444	.	0.368131	0.24224	N	0.040416	T	0.51176	0.1659	L	0.56769	1.78	0.38118	D	0.937764	P;P	0.48162	0.906;0.906	P;P	0.46585	0.521;0.521	T	0.59080	-0.7521	10	0.52906	T	0.07	-14.2184	14.197	0.65677	0.0:0.0:1.0:0.0	.	48;90	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	48;90;48;48;90;90;48;24	ENSP00000356590:K90N;ENSP00000416712:K90N;ENSP00000391716:K24N	ENSP00000353471:K48N	K	+	3	2	AXDND1	177604730	1.000000	0.71417	0.857000	0.33713	0.396000	0.30629	1.786000	0.38694	2.405000	0.81733	0.579000	0.79373	AAG		0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Missense_Mutation	25	61	1	0	1.42536e-11	0.004656	2.16109e-11	25	61				
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179533830C>A	ENST00000367615.4	-	2	441	c.373G>T	c.(373-375)Gta>Tta	p.V125L	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478																																							uc001gmq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GTA>TTA		podocin							68.0	69.0	69.0					1																	179533830		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179533830C>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.373G>T	1.37:g.179533830C>A	ENSP00000356587:p.Val125Leu					NPHS2_uc009wxi.2_Missense_Mutation_p.V125L	p.V125L	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			2	458	-			125			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.373G>T	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	4.875	0.162615	0.09287	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99567	-6.18;-6.18	5.46	-2.94	0.05581	.	0.267536	0.43416	D	0.000575	D	0.95943	0.8679	N	0.05351	-0.065	0.34936	D	0.74981	B;B	0.06786	0.0;0.001	B;B	0.11329	0.002;0.006	D	0.88965	0.3396	10	0.33940	T	0.23	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	L	125	ENSP00000356587:V125L;ENSP00000356588:V125L	ENSP00000356587:V125L	V	-	1	0	NPHS2	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA		0.478	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			6	86	1	0	3.59834e-05	0.001168	4.19273e-05	6	86				
TDRD5	163589	broad.mit.edu	37	1	179631268	179631268	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179631268G>T	ENST00000367614.1	+	14	2549	c.2190G>T	c.(2188-2190)ctG>ctT	p.L730L	TDRD5_ENST00000444136.1_Silent_p.L784L|TDRD5_ENST00000294848.8_Silent_p.L730L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	730					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.L730L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCATGCCTGGAGTCAGTGA	0.403																																							uc001gnf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2188-2190)CTG>CTT		tudor domain containing 5							165.0	141.0	149.0					1																	179631268		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179631268G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2190G>T	1.37:g.179631268G>T						TDRD5_uc010pnp.1_Silent_p.L784L|TDRD5_uc001gnh.1_Silent_p.L285L	p.L730L	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			14	2440	+			730					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.2190G>T	CCDS1332.1																																																																																				0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		13	196	1	0	2.32078e-09	0.003163	3.24613e-09	13	196				
TDRD5	163589	broad.mit.edu	37	1	179659901	179659901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179659901C>A	ENST00000367614.1	+	17	3128	c.2769C>A	c.(2767-2769)gaC>gaA	p.D923E	TDRD5_ENST00000444136.1_Missense_Mutation_p.D977E|TDRD5_ENST00000294848.8_Missense_Mutation_p.D923E	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	923					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.D923E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTACAAAGACAAGCGTCAAG	0.413																																							uc001gnf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2767-2769)GAC>GAA		tudor domain containing 5							83.0	80.0	81.0					1																	179659901		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179659901C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2769C>A	1.37:g.179659901C>A	ENSP00000356586:p.Asp923Glu					TDRD5_uc010pnp.1_Missense_Mutation_p.D977E|TDRD5_uc001gnh.1_Missense_Mutation_p.D478E	p.D923E	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3019	+			923					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2769C>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948491	0.18356	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.35236	2.38;2.38;2.72;1.32	5.17	-2.58	0.06228	.	0.783935	0.11886	N	0.520038	T	0.25644	0.0624	L	0.57536	1.79	0.09310	N	0.999999	B;B	0.28419	0.211;0.134	B;B	0.26094	0.066;0.03	T	0.22661	-1.0210	10	0.24483	T	0.36	-5.395	3.6229	0.08103	0.1273:0.5349:0.1265:0.2113	.	977;923	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	E	923;923;977;433	ENSP00000356586:D923E;ENSP00000294848:D923E;ENSP00000406052:D977E;ENSP00000410744:D433E	ENSP00000294848:D923E	D	+	3	2	TDRD5	177926524	0.003000	0.15002	0.185000	0.23176	0.570000	0.35934	-1.289000	0.02780	-0.410000	0.07542	0.655000	0.94253	GAC		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		41	81	1	0	1.15183e-24	0.009718	2.14457e-24	41	81				
TDRD5	163589	broad.mit.edu	37	1	179660007	179660007	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179660007G>T	ENST00000367614.1	+	17	3234	c.2875G>T	c.(2875-2877)Gct>Tct	p.A959S	TDRD5_ENST00000444136.1_Missense_Mutation_p.A1013S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A959S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	959					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.A959S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCTTAGGTGCTGCCGCACG	0.502																																							uc001gnf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2875-2877)GCT>TCT		tudor domain containing 5							52.0	53.0	52.0					1																	179660007		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179660007G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2875G>T	1.37:g.179660007G>T	ENSP00000356586:p.Ala959Ser					TDRD5_uc010pnp.1_Missense_Mutation_p.A1013S|TDRD5_uc001gnh.1_Missense_Mutation_p.A514S	p.A959S	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3125	+			959					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2875G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212070	0.79240	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.46819	1.97;1.97;2.12;0.86	5.27	5.27	0.74061	.	0.074260	0.56097	D	0.000038	T	0.65123	0.2661	M	0.64997	1.995	0.32964	D	0.521428	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.71623	-0.4537	10	0.42905	T	0.14	-21.2225	14.7519	0.69533	0.0:0.0:1.0:0.0	.	1013;959	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	959;959;1013;469	ENSP00000356586:A959S;ENSP00000294848:A959S;ENSP00000406052:A1013S;ENSP00000410744:A469S	ENSP00000294848:A959S	A	+	1	0	TDRD5	177926630	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.267000	0.51577	2.614000	0.88457	0.655000	0.94253	GCT		0.502	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		15	50	1	0	1.37522e-17	0.007413	2.38033e-17	15	50				
CACNA1E	777	broad.mit.edu	37	1	181705562	181705562	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:181705562C>T	ENST00000367573.2	+	22	3414	c.3414C>T	c.(3412-3414)acC>acT	p.T1138T	CACNA1E_ENST00000367570.1_Silent_p.T1138T|CACNA1E_ENST00000360108.3_Silent_p.T1119T|CACNA1E_ENST00000367567.4_Silent_p.T745T|CACNA1E_ENST00000358338.5_Silent_p.T1070T|CACNA1E_ENST00000526775.1_Silent_p.T1119T|CACNA1E_ENST00000357570.5_Silent_p.T1089T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1138					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.T1138T(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						TCTTCAGCACCACCAACCCGT	0.577																																							uc001gow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3412-3414)ACC>ACT		calcium channel, voltage-dependent, R type,							83.0	100.0	94.0					1																	181705562		2145	4245	6390	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181705562C>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.3414C>T	1.37:g.181705562C>T						CACNA1E_uc009wxs.2_Silent_p.T1026T|CACNA1E_uc001gox.1_Silent_p.T364T|CACNA1E_uc009wxt.2_Silent_p.T364T	p.T1138T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			22	3579	+			1138			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3414C>T	CCDS55664.1																																																																																				0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	27	0	0	0	0.006214	0	9	27				
RNF2	6045	broad.mit.edu	37	1	185069342	185069342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:185069342G>T	ENST00000367510.3	+	7	1208	c.920G>T	c.(919-921)gGc>gTc	p.G307V	RNF2_ENST00000367509.4_Missense_Mutation_p.G235V	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	307					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G307V(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATTAAATGGCTCTTTTTCT	0.318																																							uc001grc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(919-921)GGC>GTC		ring finger protein 2							45.0	48.0	47.0					1																	185069342		2201	4299	6500	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185069342G>T	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.920G>T	1.37:g.185069342G>T	ENSP00000356480:p.Gly307Val					RNF2_uc001grd.1_Missense_Mutation_p.G235V|RNF2_uc001gre.1_RNA	p.G307V	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	7	1153	+		Breast(1374;0.000496)	307					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.920G>T	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.413891	0.62511	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.88201	-2.35	5.86	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.93680	0.7981	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.79108	0.542;0.992	D	0.94207	0.7455	10	0.66056	D	0.02	-9.7517	17.0687	0.86567	0.0:0.1269:0.8731:0.0	.	235;307	B3KRH1;Q99496	.;RING2_HUMAN	V	307;235	ENSP00000356480:G307V	ENSP00000356479:G235V	G	+	2	0	RNF2	183335965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.338000	0.96553	1.465000	0.48006	0.650000	0.86243	GGC		0.318	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		15	44	1	0	3.45872e-05	0.004007	4.03722e-05	15	44				
HMCN1	83872	broad.mit.edu	37	1	185704050	185704050	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:185704050G>T	ENST00000271588.4	+	1	368	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D47Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	47	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D47Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGTGTTTGATGTGACTGG	0.448																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(139-141)GAT>TAT		hemicentin 1 precursor							150.0	159.0	156.0					1																	185704050		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185704050G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.139G>T	1.37:g.185704050G>T	ENSP00000271588:p.Asp47Tyr						p.D47Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	368	+			47			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.139G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905380	0.92107	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.7	5.7	0.88788	von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000003	D	0.85986	0.5825	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88217	0.2894	10	0.87932	D	0	.	19.4334	0.94781	0.0:0.0:1.0:0.0	.	47	Q96RW7	HMCN1_HUMAN	Y	47	ENSP00000271588:D47Y;ENSP00000356462:D47Y	ENSP00000271588:D47Y	D	+	1	0	HMCN1	183970673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.638000	0.98445	2.683000	0.91414	0.650000	0.86243	GAT		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	184	1	0	1.67942e-08	0.006122	2.27623e-08	18	184				
PRG4	10216	broad.mit.edu	37	1	186266034	186266034	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:186266034C>G	ENST00000445192.2	+	2	72	c.27C>G	c.(25-27)taC>taG	p.Y9*	PRG4_ENST00000367484.3_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367485.4_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.Y9*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	9					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.Y9*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTCCCATTTACCTGTTGTTGC	0.368																																							uc001gru.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(25-27)TAC>TAG		proteoglycan 4 isoform A							212.0	162.0	179.0					1																	186266034		2203	4300	6503	SO:0001587	stop_gained	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186266034C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.27C>G	1.37:g.186266034C>G	ENSP00000399679:p.Tyr9*					PRG4_uc001grt.3_Nonsense_Mutation_p.Y9*|PRG4_uc009wyl.2_Nonsense_Mutation_p.Y9*|PRG4_uc009wym.2_Nonsense_Mutation_p.Y9*|PRG4_uc010poo.1_RNA	p.Y9*	NM_005807	NP_005798	Q92954	PRG4_HUMAN			2	78	+			9					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Nonsense_Mutation	SNP	ENST00000445192.2	37	c.27C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121318	0.56613	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	.	.	.	5.8	5.8	0.92144	.	0.974748	0.08342	U	0.960721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.0252	9.006	0.36111	0.0:0.8772:0.0:0.1228	.	.	.	.	X	9	.	ENSP00000356452:Y9X	Y	+	3	2	PRG4	184532657	0.001000	0.12720	0.059000	0.19551	0.268000	0.26511	0.656000	0.24948	2.741000	0.93983	0.585000	0.79938	TAC		0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	52	0	0	0	0.001984	0	5	52				
KCNT2	343450	broad.mit.edu	37	1	196398799	196398799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196398799C>A	ENST00000294725.9	-	9	1642	c.727G>T	c.(727-729)Gtg>Ttg	p.V243L	KCNT2_ENST00000609185.1_Missense_Mutation_p.V243L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.V243L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.V243L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	243					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V243L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCGAAGCCCACAGTAGAAAAC	0.418																																							uc001gtd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(727-729)GTG>TTG		potassium channel, subfamily T, member 2							109.0	95.0	100.0					1																	196398799		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398799C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.727G>T	1.37:g.196398799C>A	ENSP00000294725:p.Val243Leu					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.V243L|KCNT2_uc001gtf.1_Missense_Mutation_p.V243L|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.V243L|KCNT2_uc009wyv.1_Missense_Mutation_p.V218L	p.V243L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			9	787	-			243					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.727G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099123	0.94197	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.38560	1.13;1.13;1.13	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.48767	D	0.000161	T	0.66096	0.2755	M	0.73319	2.225	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.952;1.0	D;D;D;D	0.85130	0.997;0.989;0.946;0.997	T	0.69390	-0.5158	10	0.87932	D	0	-15.226	18.9678	0.92702	0.0:1.0:0.0:0.0	.	243;243;243;243	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	243;243;64;243	ENSP00000356403:V243L;ENSP00000356401:V243L;ENSP00000294725:V243L	ENSP00000294725:V243L	V	-	1	0	KCNT2	194665422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.813000	0.86123	2.487000	0.83934	0.655000	0.94253	GTG		0.418	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		23	66	1	0	1.28384e-07	0.001882	1.67546e-07	23	66				
CFH	3075	broad.mit.edu	37	1	196654312	196654312	+	Silent	SNP	G	G	T	rs370797361		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196654312G>T	ENST00000359637.2	+	6	779	c.717G>T	c.(715-717)cgG>cgT	p.R239R	CFH_ENST00000367429.4_Silent_p.R303R|CFH_ENST00000439155.2_Silent_p.R303R			P08603	CFAH_HUMAN	complement factor H	303	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R303R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCAACCCGGGGAAATACAG	0.393																																							uc001gtj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(907-909)CGG>CGT		complement factor H isoform a precursor							120.0	110.0	114.0					1																	196654312		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654312G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.717G>T	1.37:g.196654312G>T						CFH_uc001gti.3_Silent_p.R303R|CFH_uc009wyw.2_Silent_p.R303R|CFH_uc009wyx.2_Silent_p.R239R	p.R303R	NM_000186	NP_000177	P08603	CFAH_HUMAN			7	1149	+			303			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.909G>T																																																																																					0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		22	59	1	0	9.86323e-18	0.003954	1.71322e-17	22	59				
CFHR5	81494	broad.mit.edu	37	1	196977662	196977662	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196977662A>G	ENST00000256785.4	+	10	1668	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q544R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	520	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.Q520R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AATAACATACAGTTAAAATGG	0.313																																							uc001gts.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1558-1560)CAG>CGG		complement factor H-related 5 precursor							69.0	65.0	67.0					1																	196977662		2202	4300	6502	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977662A>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1559A>G	1.37:g.196977662A>G	ENSP00000256785:p.Gln520Arg						p.Q520R	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			10	1687	+			520			Sushi 9.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1559A>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.311479	0.23821	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.83075	-1.68;-1.68	4.45	-4.15	0.03881	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.70806	0.3266	L	0.49571	1.57	0.09310	N	1	B	0.28378	0.209	B	0.22152	0.038	T	0.54997	-0.8209	9	0.10902	T	0.67	.	8.3168	0.32104	0.2827:0.5765:0.0:0.1408	.	520	Q9BXR6	FHR5_HUMAN	R	544;520	ENSP00000356384:Q544R;ENSP00000256785:Q520R	ENSP00000256785:Q520R	Q	+	2	0	CFHR5	195244285	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.077000	0.14738	-1.003000	0.03425	-0.488000	0.04728	CAG		0.313	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		9	51	0	0	0	0.008291	0	9	51				
ASPM	259266	broad.mit.edu	37	1	197072368	197072368	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197072368T>G	ENST00000367409.4	-	18	6269	c.6013A>C	c.(6013-6015)Agg>Cgg	p.R2005R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2005					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R2005R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTAAGCCCTATAATACTTT	0.328																																							uc001gtu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6013-6015)AGG>CGG		asp (abnormal spindle)-like, microcephaly							89.0	92.0	91.0					1																	197072368		2202	4299	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072368T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6013A>C	1.37:g.197072368T>G						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R2005R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6270	-			2005					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6013A>C	CCDS1389.1																																																																																				0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		32	72	0	0	0	0.009535	0	32	72				
ASPM	259266	broad.mit.edu	37	1	197094181	197094181	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197094181T>A	ENST00000367409.4	-	11	3333	c.3077A>T	c.(3076-3078)gAg>gTg	p.E1026V	ASPM_ENST00000367408.1_Missense_Mutation_p.E276V|ASPM_ENST00000294732.7_Missense_Mutation_p.E1026V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1026	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E1026V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTACCATGCTCATCACTTAA	0.343																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3076-3078)GAG>GTG		asp (abnormal spindle)-like, microcephaly							127.0	118.0	121.0					1																	197094181		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094181T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3077A>T	1.37:g.197094181T>A	ENSP00000356379:p.Glu1026Val					ASPM_uc001gtv.2_Missense_Mutation_p.E1026V|ASPM_uc001gtw.3_Intron	p.E1026V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			11	3334	-			1026			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3077A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416354	0.83449	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60040	0.22;1.48;1.25	5.74	4.61	0.57282	Calponin homology domain (4);	0.146060	0.47093	D	0.000249	T	0.64692	0.2621	L	0.38838	1.175	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;D	0.73380	0.905;0.98	T	0.63028	-0.6728	10	0.40728	T	0.16	.	11.8435	0.52368	0.0:0.0685:0.0:0.9315	.	1026;1026	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1026;1026;276	ENSP00000356379:E1026V;ENSP00000294732:E1026V;ENSP00000356378:E276V	ENSP00000294732:E1026V	E	-	2	0	ASPM	195360804	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	7.509000	0.81698	1.106000	0.41623	0.460000	0.39030	GAG		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		8	54	0	0	0	0.004482	0	8	54				
CRB1	23418	broad.mit.edu	37	1	197396583	197396583	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197396583G>A	ENST00000367400.3	+	7	2263		c.e7-1		CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367397.1_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGACATTGAAGAGTATGTGGC	0.413																																							uc001gtz.2		NA																	2	Unknown(2)		cervix(1)|lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.e7-1		crumbs homolog 1 precursor							59.0	55.0	56.0					1																	197396583		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396583G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2129-1G>A	1.37:g.197396583G>A						CRB1_uc010poz.1_Splice_Site_p.E641_splice|CRB1_uc010ppa.1_Splice_Site|CRB1_uc009wza.2_Splice_Site_p.E598_splice|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.1_Splice_Site_p.E191_splice|CRB1_uc001gub.1_Splice_Site_p.E359_splice	p.E710_splice	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2264	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37	c.2129_splice	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935870	0.34189	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195663206	1.000000	0.71417	0.658000	0.29665	0.069000	0.16628	9.043000	0.93799	2.701000	0.92244	0.650000	0.86243	.		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	9	42	0	0	0	0.001368	0	9	42				
DENND1B	163486	broad.mit.edu	37	1	197479885	197479885	+	IGR	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197479885C>G								CRB1 (32300 upstream) : DENND1B (41499 downstream)														p.S318T(1)|p.S242T(1)									AGTAGGGTCACTCACATTGTC	0.448																																							uc010ppe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1972-1974)AGT>ACT		DENN/MADD domain containing 1B isoform 1							112.0	103.0	106.0					1																	197479885		2203	4300	6503	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197479885C>G																													1.37:g.197479885C>G						DENND1B_uc010ppf.1_RNA	p.S658T	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2311	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1973G>C		.	.	.	.	.	.	.	.	.	.	C	4.492	0.091249	0.08632	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.31510	1.49	5.31	0.248	0.15526	.	0.530450	0.15843	U	0.241930	T	0.19327	0.0464	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21655	-1.0239	10	0.22706	T	0.39	.	6.9673	0.24629	0.0:0.3846:0.0:0.6154	.	678	Q6P3S1-5	.	T	318;678;658	ENSP00000375839:S318T	ENSP00000375839:S318T	S	-	2	0	DENND1B	195746508	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.101000	0.10973	0.227000	0.20999	0.563000	0.77884	AGT	0	0.448									12	57	0	0	0	0.001855	0	12	57				
KDM5B	10765	broad.mit.edu	37	1	202715449	202715449	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:202715449T>A	ENST00000367265.3	-	15	3183	c.2019A>T	c.(2017-2019)ggA>ggT	p.G673G	KDM5B_ENST00000367264.2_Silent_p.G709G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	673					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G673G(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCAATCACTCCCTAGAATA	0.378																																							uc001gyf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(2017-2019)GGA>GGT		jumonji, AT rich interactive domain 1B							98.0	95.0	96.0					1																	202715449		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202715449T>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2019A>T	1.37:g.202715449T>A						KDM5B_uc009xag.2_Silent_p.G709G|KDM5B_uc001gyg.1_Silent_p.G515G	p.G673G	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			15	2135	-			673					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.2019A>T	CCDS30974.1																																																																																				0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		21	51	0	0	0	0.00278	0	21	51				
KLHL12	59349	broad.mit.edu	37	1	202878154	202878154	+	Silent	SNP	C	C	T	rs527647877	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:202878154C>T	ENST00000367261.3	-	6	1034	c.816G>A	c.(814-816)agG>agA	p.R272R	KLHL12_ENST00000435533.3_Silent_p.R310R|KLHL12_ENST00000367259.1_Silent_p.R5R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	272					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)		p.R272R(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCCCTTGTCCTGGGTCCCT	0.463													C|||	10	0.00199681	0.0	0.0	5008	,	,		18222	0.0		0.0	False		,,,				2504	0.0102						uc001gyo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)AGG>AGA		kelch-like 12							115.0	112.0	113.0					1																	202878154		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202878154C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.816G>A	1.37:g.202878154C>T						KLHL12_uc001gym.1_Silent_p.R5R|KLHL12_uc001gyn.1_Silent_p.R122R|KLHL12_uc010pqc.1_Silent_p.R310R|KLHL12_uc009xah.1_Silent_p.R272R	p.R272R	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1016	-			272					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.816G>A	CCDS1429.1																																																																																				0.463	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		28	109	0	0	0	0.008361	0	28	109				
LRRN2	10446	broad.mit.edu	37	1	204587229	204587229	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204587229A>T	ENST00000367175.1	-	1	4104	c.1892T>A	c.(1891-1893)cTc>cAc	p.L631H	LRRN2_ENST00000367176.3_Missense_Mutation_p.L631H|LRRN2_ENST00000367177.3_Missense_Mutation_p.L631H|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	631					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L631H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GATGGCAATGAGCCCAGGACG	0.632																																							uc001hbe.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1891-1893)CTC>CAC		leucine rich repeat neuronal 2 precursor							45.0	48.0	47.0					1																	204587229		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587229A>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1892T>A	1.37:g.204587229A>T	ENSP00000356143:p.Leu631His					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.L631H|LRRN2_uc009xbf.1_Missense_Mutation_p.L631H|MDM4_uc001hbc.2_Intron	p.L631H	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	2280	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		631			Helical; (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1892T>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042290	0.35989	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.62498	0.02;0.02;0.02	5.6	4.49	0.54785	.	0.000000	0.34156	N	0.004208	T	0.48003	0.1476	N	0.08118	0	0.36399	D	0.863004	D	0.60575	0.988	P	0.50231	0.635	T	0.55418	-0.8144	10	0.31617	T	0.26	.	10.7995	0.46480	0.9256:0.0:0.0744:0.0	.	631	O75325	LRRN2_HUMAN	H	631	ENSP00000356144:L631H;ENSP00000356145:L631H;ENSP00000356143:L631H	ENSP00000356143:L631H	L	-	2	0	LRRN2	202853852	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	3.659000	0.54489	0.978000	0.38470	0.533000	0.62120	CTC		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		5	51	0	0	0	0.001168	0	5	51				
NFASC	23114	broad.mit.edu	37	1	204951081	204951081	+	Silent	SNP	C	C	T	rs375836950		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204951081C>T	ENST00000401399.1	+	20	2602	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V	NFASC_ENST00000513543.1_Silent_p.V797V|NFASC_ENST00000339876.6_Silent_p.V801V|NFASC_ENST00000404907.1_Silent_p.V797V|NFASC_ENST00000367171.4_Silent_p.V786V|NFASC_ENST00000404076.1_Silent_p.V780V|NFASC_ENST00000539706.1_Silent_p.V797V|NFASC_ENST00000367169.4_Silent_p.V801V|NFASC_ENST00000338586.6_Silent_p.V801V|NFASC_ENST00000367172.4_Silent_p.V801V|NFASC_ENST00000338515.6_Silent_p.V801V|NFASC_ENST00000360049.4_Silent_p.V797V|NFASC_ENST00000367170.4_Silent_p.V801V			O94856	NFASC_HUMAN	neurofascin	801	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.V797V(1)|p.V801V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGATCCGAGTCCAGGCTGAAA	0.602																																							uc001hbj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2401-2403)GTC>GTT		neurofascin isoform 1 precursor		C	,,,	0,4406		0,0,2203	74.0	63.0	66.0		2403,2436,2391,2391	2.5	1.0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001160331.1,NM_001160332.1,NM_015090.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	801/1241,812/1190,797/1175,797/1170	204951081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204951081C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2403C>T	1.37:g.204951081C>T						NFASC_uc010pra.1_Silent_p.V797V|NFASC_uc001hbi.2_Silent_p.V797V|NFASC_uc010prb.1_Silent_p.V812V|NFASC_uc010prc.1_Silent_p.V368V|NFASC_uc001hbk.1_Silent_p.V607V|NFASC_uc001hbl.1_Silent_p.V51V	p.V801V	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		21	2731	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		801			Extracellular (Potential).|Fibronectin type-III 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2403C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.268	1.045042	0.19748	0.0	1.16E-4	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.55	2.49	0.30216	.	.	.	.	.	T	0.59528	0.2200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54833	-0.8234	4	.	.	.	.	10.5409	0.45033	0.0:0.3356:0.579:0.0854	.	.	.	.	F	771;33	.	.	S	+	2	0	NFASC	203217704	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.175000	0.31944	0.664000	0.31047	0.563000	0.77884	TCC		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		9	34	0	0	0	0.006214	0	9	34				
DYRK3	8444	broad.mit.edu	37	1	206821658	206821658	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:206821658C>G	ENST00000367109.2	+	3	1283	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	DYRK3_ENST00000367106.1_Missense_Mutation_p.S352C|DYRK3_ENST00000367108.3_Missense_Mutation_p.S352C|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.S372C(1)|p.S337C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATATCCAGTCTCGGTTCTAC	0.463																																					Melanoma(164;427 2622 26826 51707)	Melanoma(164;427 2622 26826 51707)	uc001hej.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(1)	3						c.(1114-1116)TCT>TGT		dual-specificity tyrosine-(Y)-phosphorylation							79.0	87.0	84.0					1																	206821658		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821658C>G	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1115C>G	1.37:g.206821658C>G	ENSP00000356076:p.Ser372Cys					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.S352C	p.S372C	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1283	+	Breast(84;0.183)		372			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1115C>G	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418004	0.62622	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.69926	-0.44;-0.44;-0.44	5.3	4.39	0.52855	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	0.84840	0.5561	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88299	0.2948	10	0.87932	D	0	.	12.9994	0.58666	0.0:0.9229:0.0:0.0771	.	372;352	O43781;O43781-2	DYRK3_HUMAN;.	C	372;352;352	ENSP00000356076:S372C;ENSP00000356075:S352C;ENSP00000356073:S352C	ENSP00000356073:S352C	S	+	2	0	DYRK3	204888281	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.644000	0.83416	1.477000	0.48234	0.549000	0.68633	TCT		0.463	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		23	134	0	0	0	0.00278	0	23	134				
PIGR	5284	broad.mit.edu	37	1	207111097	207111097	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:207111097C>A	ENST00000356495.4	-	4	572		c.e4-1			NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.?(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCCAGGACCTGCAGGATGA	0.493																																							uc001hez.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e4-1		polymeric immunoglobulin receptor precursor							54.0	49.0	50.0					1																	207111097		2203	4300	6503	SO:0001630	splice_region_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207111097C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.389-1G>T	1.37:g.207111097C>A						PIGR_uc009xbz.2_Splice_Site_p.G130_splice	p.G130_splice	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	573	-								Q68D81|Q8IZY7	Splice_Site	SNP	ENST00000356495.4	37	c.389_splice	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556524	0.27827	.	.	ENSG00000162896	ENST00000356495	.	.	.	5.68	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7723	0.34740	0.0:0.7684:0.1511:0.0805	.	.	.	.	.	-1	.	.	.	-	.	.	PIGR	205177720	0.902000	0.30710	0.084000	0.20598	0.013000	0.08279	3.857000	0.55972	0.828000	0.34709	0.591000	0.81541	.		0.493	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	Intron	7	34	1	0	5.68852e-11	0.004482	8.44907e-11	7	34				
CR1	1378	broad.mit.edu	37	1	207782848	207782848	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:207782848C>T	ENST00000367049.4	+	37	6110	c.6110C>T	c.(6109-6111)tCt>tTt	p.S2037F	CR1_ENST00000400960.2_Missense_Mutation_p.S1587F|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.S1587F|CR1_ENST00000367053.1_Missense_Mutation_p.S1587F|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.S1587F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1587					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.S1592F(1)|p.S2037F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGGTGTATTTCTACTAATAAA	0.438																																							uc001hfy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4759-4761)TCT>TTT		complement receptor 1 isoform F precursor							73.0	73.0	73.0					1																	207782848		1898	4117	6015	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207782848C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6110C>T	1.37:g.207782848C>T	ENSP00000356016:p.Ser2037Phe					CR1_uc009xcl.1_Missense_Mutation_p.S1137F|CR1_uc001hfx.2_Missense_Mutation_p.S2037F	p.S1587F	NM_000573	NP_000564	P17927	CR1_HUMAN			29	4900	+			1587			Extracellular (Potential).|Sushi 24.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4760C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624466	0.28889	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.34072	1.39;1.52;1.38;1.38;1.56;1.4	2.23	-1.06	0.10002	Sushi/SCR/CCP (1);	.	.	.	.	T	0.44074	0.1276	L	0.49350	1.555	0.09310	N	1	P;D;D	0.71674	0.844;0.998;0.998	B;D;D	0.77004	0.216;0.989;0.923	T	0.27806	-1.0063	9	0.45353	T	0.12	.	2.2957	0.04150	0.2404:0.446:0.0:0.3136	.	1587;1587;2037	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	F	1587;1587;1587;1587;1137;2037	ENSP00000356019:S1587F;ENSP00000356018:S1587F;ENSP00000356020:S1587F;ENSP00000383744:S1587F;ENSP00000436139:S1137F;ENSP00000356016:S2037F	ENSP00000356016:S2037F	S	+	2	0	CR1	205849471	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.104000	0.10923	-0.258000	0.09446	0.462000	0.41574	TCT		0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		5	50	0	0	0	0.001984	0	5	50				
PLXNA2	5362	broad.mit.edu	37	1	208212308	208212308	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:208212308C>A	ENST00000367033.3	-	25	5279	c.4522G>T	c.(4522-4524)Gac>Tac	p.D1508Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1508					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D1508Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCTCGTTGTCAGGGTTGACG	0.498																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4522-4524)GAC>TAC		plexin A2 precursor							143.0	124.0	130.0					1																	208212308		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208212308C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4522G>T	1.37:g.208212308C>A	ENSP00000356000:p.Asp1508Tyr						p.D1508Y	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	25	5280	-			1508			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4522G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733720	0.89482	.	.	ENSG00000076356	ENST00000367033	T	0.11712	2.75	5.62	5.62	0.85841	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.044304	0.85682	D	0.000000	T	0.29588	0.0738	M	0.71581	2.175	0.80722	D	1	D	0.61697	0.99	P	0.56474	0.799	T	0.00525	-1.1689	10	0.51188	T	0.08	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	1508	O75051	PLXA2_HUMAN	Y	1508	ENSP00000356000:D1508Y	ENSP00000356000:D1508Y	D	-	1	0	PLXNA2	206278931	1.000000	0.71417	0.983000	0.44433	0.811000	0.45836	7.196000	0.77805	2.648000	0.89879	0.650000	0.86243	GAC		0.498	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		16	67	1	0	4.14922e-12	0.004007	6.38441e-12	16	67				
PLXNA2	5362	broad.mit.edu	37	1	208390214	208390214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:208390214C>A	ENST00000367033.3	-	2	1811	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	352	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D352Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCAGAGTCATCGGGCGGG	0.587																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1054-1056)GAC>TAC		plexin A2 precursor							70.0	65.0	67.0					1																	208390214		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390214C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1054G>T	1.37:g.208390214C>A	ENSP00000356000:p.Asp352Tyr					PLXNA2_uc001hha.3_Missense_Mutation_p.D406Y	p.D352Y	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1812	-			352			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1054G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192289	0.78902	.	.	ENSG00000076356	ENST00000367033	T	0.04809	3.55	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056342	0.64402	D	0.000002	T	0.17577	0.0422	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.964;0.995	P;P	0.61800	0.761;0.894	T	0.00020	-1.2355	10	0.87932	D	0	.	19.8101	0.96543	0.0:1.0:0.0:0.0	.	406;352	O75051-2;O75051	.;PLXA2_HUMAN	Y	352	ENSP00000356000:D352Y	ENSP00000356000:D352Y	D	-	1	0	PLXNA2	206456837	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	5.826000	0.69293	2.696000	0.92011	0.655000	0.94253	GAC		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		17	62	1	0	2.94398e-08	0.007413	3.93064e-08	17	62				
SYT14	255928	broad.mit.edu	37	1	210273453	210273453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:210273453G>T	ENST00000472886.1	+	6	825	c.811G>T	c.(811-813)Gac>Tac	p.D271Y	SYT14_ENST00000367015.1_Missense_Mutation_p.D233Y|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.D316Y|SYT14_ENST00000399639.2_Missense_Mutation_p.D271Y|SYT14_ENST00000534859.1_Missense_Mutation_p.D271Y|SYT14_ENST00000537238.1_Missense_Mutation_p.D233Y|SYT14_ENST00000367019.1_Missense_Mutation_p.D271Y			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	271					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.D271Y(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTTGACTATGACTCACAAGA	0.443																																							uc009xcv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(811-813)GAC>TAC		synaptotagmin XIV isoform 4							90.0	83.0	85.0					1																	210273453		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273453G>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.811G>T	1.37:g.210273453G>T	ENSP00000418901:p.Asp271Tyr					SYT14_uc001hhs.3_Missense_Mutation_p.D316Y|SYT14_uc001hht.3_Missense_Mutation_p.D271Y|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.D316Y|SYT14_uc010pso.1_Missense_Mutation_p.D233Y	p.D271Y	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	883	+			271			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.811G>T	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276536	0.80580	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06;3.06	5.97	5.97	0.96955	C2 calcium/lipid-binding domain, CaLB (1);	0.050677	0.85682	D	0.000000	T	0.25827	0.0629	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.63880	0.988;0.966;0.983;0.993	P;P;P;D	0.65443	0.862;0.781;0.847;0.935	T	0.00025	-1.2315	10	0.87932	D	0	-18.3829	20.4251	0.99070	0.0:0.0:1.0:0.0	.	299;271;271;316	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	Y	316;271;271;233;271;271;233	ENSP00000389039:D316Y;ENSP00000442891:D271Y;ENSP00000445837:D271Y;ENSP00000437423:D233Y;ENSP00000355986:D271Y;ENSP00000418901:D271Y;ENSP00000355982:D233Y	ENSP00000355982:D233Y	D	+	1	0	SYT14	208340076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.209000	0.77916	2.829000	0.97493	0.650000	0.86243	GAC		0.443	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		12	71	1	0	0.000219431	0.00245	0.00024719	12	71				
KCNK2	3776	broad.mit.edu	37	1	215259913	215259913	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:215259913G>A	ENST00000444842.2	+	2	399	c.249G>A	c.(247-249)ttG>ttA	p.L83L	KCNK2_ENST00000391895.2_Silent_p.L79L|KCNK2_ENST00000391894.2_Silent_p.L68L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	83					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.L83L(1)|p.L68L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TCAAAGCATTGGAGCAGCCTC	0.468																																							uc001hkq.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)TTG>TTA		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						126.0	112.0	117.0					1																	215259913		2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215259913G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.249G>A	1.37:g.215259913G>A						KCNK2_uc001hko.2_Silent_p.L79L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.L68L	p.L83L	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	418	+			83					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.249G>A	CCDS41467.1																																																																																				0.468	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		18	146	0	0	0	0.00499	0	18	146				
USH2A	7399	broad.mit.edu	37	1	216370014	216370014	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:216370014G>C	ENST00000307340.3	-	19	4518	c.4132C>G	c.(4132-4134)Ctc>Gtc	p.L1378V	USH2A_ENST00000366943.2_Missense_Mutation_p.L1378V|USH2A_ENST00000366942.3_Missense_Mutation_p.L1378V|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1378	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1378V(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)		GAGATATTGAGAGAGTACGAA	0.403										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.(4132-4134)CTC>GTC		usherin isoform B							137.0	129.0	132.0					1																	216370014		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.chr1:216370014G>C	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.4132C>G	1.37:g.216370014G>C	ENSP00000305941:p.Leu1378Val	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L1378V	p.L1378V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	19	4519	-			1378			Extracellular (Potential).|Fibronectin type-III 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4132C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096529	0.56075	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.59224	0.28;0.28;0.28	5.96	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35708	N	0.003024	T	0.59622	0.2207	M	0.67625	2.065	0.46356	D	0.999004	P;P	0.52692	0.955;0.905	P;P	0.51453	0.548;0.67	T	0.58521	-0.7622	10	0.10111	T	0.7	.	10.6794	0.45804	0.0695:0.1303:0.8002:0.0	.	1378;1378	O75445-2;O75445	.;USH2A_HUMAN	V	1378	ENSP00000305941:L1378V;ENSP00000355910:L1378V;ENSP00000355909:L1378V	ENSP00000305941:L1378V	L	-	1	0	USH2A	214436637	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	3.414000	0.52693	1.515000	0.48885	-0.175000	0.13238	CTC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	68	0	0	0	0.001984	0	7	68				
GPATCH2	55105	broad.mit.edu	37	1	217784288	217784288	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:217784288C>A	ENST00000366935.3	-	4	1071	c.961G>T	c.(961-963)Gtc>Ttc	p.V321F	GPATCH2_ENST00000366934.3_Missense_Mutation_p.V321F	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	321					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.V321F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTTCAAAGACAGGATCTGGT	0.453																																							uc001hlf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)GTC>TTC		G patch domain containing 2							157.0	141.0	146.0					1																	217784288		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217784288C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.961G>T	1.37:g.217784288C>A	ENSP00000355902:p.Val321Phe					GPATCH2_uc001hlg.3_Missense_Mutation_p.V321F	p.V321F	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	4	1057	-			321					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.961G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567420	0.86439	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.47869	1.42;0.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.72479	2.2	0.58432	D	0.999994	D;D	0.69078	0.997;0.995	D;P	0.65323	0.934;0.86	T	0.65516	-0.6149	10	0.49607	T	0.09	-17.7395	13.9631	0.64193	0.0:0.9275:0.0:0.0725	.	321;321	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	F	321	ENSP00000355902:V321F;ENSP00000355901:V321F	ENSP00000355901:V321F	V	-	1	0	GPATCH2	215850911	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	5.762000	0.68809	2.649000	0.89929	0.591000	0.81541	GTC		0.453	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		10	60	1	0	1.76689e-08	0.006214	2.38331e-08	10	60				
TGFB2	7042	broad.mit.edu	37	1	218607769	218607769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:218607769G>T	ENST00000366930.4	+	4	1200	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	TGFB2_ENST00000366929.4_Nonsense_Mutation_p.E273*|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	245					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E273*(1)|p.E245*(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TAAAAGTGAAGAACTAGAAGC	0.393																																							uc001hlm.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(733-735)GAA>TAA		transforming growth factor, beta 2 isoform 2							60.0	59.0	59.0					1																	218607769		2202	4300	6502	SO:0001587	stop_gained	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218607769G>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.733G>T	1.37:g.218607769G>T	ENSP00000355897:p.Glu245*					TGFB2_uc001hln.2_Nonsense_Mutation_p.E273*|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.E245*	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	4	1386	+			245					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Nonsense_Mutation	SNP	ENST00000366930.4	37	c.733G>T	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	42	9.221603	0.99105	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	X	245;273	.	ENSP00000355896:E273X	E	+	1	0	TGFB2	216674392	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.414000	0.97362	2.806000	0.96561	0.655000	0.94253	GAA		0.393	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		10	43	1	0	1.58986e-06	0.008291	1.96659e-06	10	43				
MARK1	4139	broad.mit.edu	37	1	220791840	220791840	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:220791840C>T	ENST00000366917.4	+	8	1007	c.741C>T	c.(739-741)ctC>ctT	p.L247L	MARK1_ENST00000402574.1_Silent_p.L112L|MARK1_ENST00000366918.4_Silent_p.L225L					MAP/microtubule affinity-regulating kinase 1									p.L247L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428																																							uc001hmn.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(739-741)CTC>CTT		MAP/microtubule affinity-regulating kinase 1							89.0	92.0	91.0					1																	220791840		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791840C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.741C>T	1.37:g.220791840C>T						MARK1_uc009xdw.2_Silent_p.L247L|MARK1_uc010pun.1_Silent_p.L247L|MARK1_uc001hmm.3_Silent_p.L225L	p.L247L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1338	+			247			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.741C>T	CCDS31029.2																																																																																				0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			8	78	0	0	0	0.001368	0	8	78				
TAF1A	9015	broad.mit.edu	37	1	222757545	222757545	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:222757545T>A	ENST00000352967.4	-	3	404	c.216A>T	c.(214-216)caA>caT	p.Q72H	TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.Q72H|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000350027.4_Missense_Mutation_p.Q72H	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	72					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.Q72H(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTCTGCAGCTTGCTGCCATT	0.413																																							uc009xdz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CAA>CAT		TBP-associated factor 1A isoform 2							140.0	135.0	136.0					1																	222757545		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222757545T>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.216A>T	1.37:g.222757545T>A	ENSP00000327072:p.Gln72His					TAF1A_uc001hni.1_Intron|TAF1A_uc001hnj.2_Missense_Mutation_p.Q72H|TAF1A_uc001hnk.2_Intron|TAF1A_uc010pur.1_Missense_Mutation_p.Q72H	p.Q72H	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	3	405	-			72					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.216A>T	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883782	0.51908	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.81	-1.91	0.07641	.	0.506763	0.23521	N	0.047292	T	0.40498	0.1119	L	0.54323	1.7	0.22601	N	0.998947	P;P	0.41569	0.755;0.755	P;P	0.44946	0.465;0.465	T	0.43572	-0.9383	10	0.66056	D	0.02	-10.8433	11.8344	0.52314	0.0:0.5127:0.0:0.4873	.	72;72	B4DS21;Q15573	.;TAF1A_HUMAN	H	72	ENSP00000339976:Q72H;ENSP00000327072:Q72H;ENSP00000375755:Q72H;ENSP00000437725:Q72H	ENSP00000339976:Q72H	Q	-	3	2	TAF1A	220824168	0.007000	0.16637	0.523000	0.27875	0.975000	0.68041	-0.403000	0.07214	-0.630000	0.05567	0.533000	0.62120	CAA		0.413	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		31	272	0	0	0	0.009535	0	31	272				
PARP1	142	broad.mit.edu	37	1	226566929	226566929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:226566929G>T	ENST00000366794.5	-	12	1802	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	553					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F553L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGTGGCACTGAAGACCTTCC	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																															uc001hqd.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1657-1659)TTC>TTA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							197.0	175.0	182.0					1																	226566929		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226566929G>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1659C>A	1.37:g.226566929G>T	ENSP00000355759:p.Phe553Leu						p.F553L	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	12	1830	-	Breast(184;0.133)		553					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1659C>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251015	0.59212	.	.	ENSG00000143799	ENST00000366794	T	0.20332	2.08	5.07	5.07	0.68467	WGR domain (3);	0.049167	0.85682	D	0.000000	T	0.20251	0.0487	L	0.46157	1.445	0.80722	D	1	B	0.19583	0.037	B	0.24006	0.05	T	0.03364	-1.1044	10	0.54805	T	0.06	.	10.1797	0.42961	0.1551:0.0:0.8449:0.0	.	553	P09874	PARP1_HUMAN	L	553	ENSP00000355759:F553L	ENSP00000355759:F553L	F	-	3	2	PARP1	224633552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.470000	0.60175	2.350000	0.79820	0.655000	0.94253	TTC		0.532	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		27	253	1	0	7.38237e-10	0.00632	1.05127e-09	27	253				
OBSCN	84033	broad.mit.edu	37	1	228468497	228468497	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:228468497G>T	ENST00000422127.1	+	30	8241	c.8197G>T	c.(8197-8199)Gat>Tat	p.D2733Y	OBSCN_ENST00000284548.11_Splice_Site_p.D2733Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Splice_Site_p.D3162Y|OBSCN_ENST00000359599.6_Splice_Site_p.D1580Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2733					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D2787Y(1)|p.D2733Y(1)|p.D3016Y(1)|p.D2917Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGCGTGCACGGTGTGTGGCT	0.692																																							uc009xez.1		NA																	4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8197-8199)GAT>TAT		obscurin, cytoskeletal calmodulin and							10.0	12.0	11.0					1																	228468497		2024	4134	6158	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468497G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8197+1G>T	1.37:g.228468497G>T						OBSCN_uc001hsn.2_Missense_Mutation_p.D2733Y|OBSCN_uc001hsp.1_Missense_Mutation_p.D432Y|OBSCN_uc001hsq.1_5'UTR	p.D2733Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			30	8241	+		Prostate(94;0.0405)	2733					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8197G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879403	0.72294	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.62941	0.43;0.03;-0.01	5.32	4.35	0.52113	.	0.229516	0.34411	N	0.003982	T	0.78336	0.4267	M	0.77103	2.36	0.80722	D	1	D;P;D	0.89917	1.0;0.463;1.0	D;B;D	0.78314	0.976;0.215;0.991	T	0.80728	-0.1253	10	0.59425	D	0.04	.	14.7425	0.69467	0.0:0.0:0.8546:0.1454	.	2733;2733;2733	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	Y	2733;2733;1580;432;139	ENSP00000284548:D2733Y;ENSP00000409493:D2733Y;ENSP00000352613:D1580Y	ENSP00000284548:D2733Y	D	+	1	0	OBSCN	226535120	1.000000	0.71417	0.941000	0.38009	0.392000	0.30506	7.423000	0.80229	2.490000	0.84030	0.457000	0.33378	GAT		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	7	28	1	0	3.09899e-07	0.004482	3.96541e-07	7	28				
NUP133	55746	broad.mit.edu	37	1	229588382	229588382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229588382C>A	ENST00000261396.3	-	22	3080	c.2989G>T	c.(2989-2991)Gag>Tag	p.E997*	NUP133_ENST00000485119.1_5'Flank|NUP133_ENST00000537506.1_Nonsense_Mutation_p.E981*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	997					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.E997*(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CGCTCCTGCTCAGCCATTTCT	0.428																																							uc001htn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2989-2991)GAG>TAG		nucleoporin 133kDa							77.0	70.0	72.0					1																	229588382		2203	4300	6503	SO:0001587	stop_gained	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229588382C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2989G>T	1.37:g.229588382C>A	ENSP00000261396:p.Glu997*						p.E997*	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			22	3081	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	997					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Nonsense_Mutation	SNP	ENST00000261396.3	37	c.2989G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	42	9.341506	0.99142	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.41	5.41	0.78517	.	0.138842	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-5.3971	19.204	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	926;997;926;981	.	ENSP00000261396:E997X	E	-	1	0	NUP133	227655005	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.082000	0.76851	2.520000	0.84964	0.563000	0.77884	GAG		0.428	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		10	46	1	0	3.86212e-05	0.008291	4.46834e-05	10	46				
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229730411C>G	ENST00000366676.1	-	4	1402	c.1403G>C	c.(1402-1404)cGt>cCt	p.R468P	TAF5L_ENST00000258281.2_Missense_Mutation_p.R468P			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607																																							uc001htq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1402-1404)CGT>CCT		PCAF associated factor 65 beta isoform a							76.0	81.0	79.0					1																	229730411		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730411C>G	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1403G>C	1.37:g.229730411C>G	ENSP00000355636:p.Arg468Pro						p.R468P	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1569	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	468			WD 5.		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1403G>C	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795590	0.50208	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.60299	0.2;0.2	5.97	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047962	0.85682	D	0.000000	T	0.53738	0.1815	N	0.25286	0.73	0.80722	D	1	D	0.61697	0.99	P	0.50791	0.65	T	0.57774	-0.7753	10	0.51188	T	0.08	-7.1912	15.1546	0.72730	0.0:0.9326:0.0:0.0674	.	468	O75529	TAF5L_HUMAN	P	468	ENSP00000355636:R468P;ENSP00000258281:R468P	ENSP00000258281:R468P	R	-	2	0	TAF5L	227797034	1.000000	0.71417	0.921000	0.36526	0.013000	0.08279	7.785000	0.85724	1.537000	0.49254	0.655000	0.94253	CGT		0.607	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		16	172	0	0	0	0.004007	0	16	172				
SIPA1L2	57568	broad.mit.edu	37	1	232596806	232596806	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:232596806C>A	ENST00000366630.1	-	9	3280	c.2922G>T	c.(2920-2922)gtG>gtT	p.V974V	SIPA1L2_ENST00000308942.4_Silent_p.V48V|SIPA1L2_ENST00000262861.4_Silent_p.V974V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	974	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.V974V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAAAAGGTTCCACATCTGCGA	0.567																																							uc001hvg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2920-2922)GTG>GTT		signal-induced proliferation-associated 1 like							104.0	115.0	111.0					1																	232596806		2187	4290	6477	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596806C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2922G>T	1.37:g.232596806C>A						SIPA1L2_uc001hvf.2_Silent_p.V48V	p.V974V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			8	3080	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	974			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2922G>T	CCDS41474.1																																																																																				0.567	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		20	292	1	0	1.2644e-06	0.010504	1.57408e-06	20	292				
GPR137B	7107	broad.mit.edu	37	1	236341796	236341796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:236341796G>T	ENST00000366592.3	+	3	638	c.547G>T	c.(547-549)Gga>Tga	p.G183*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	183						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.G183*(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGTAAAGACGGGAAATTGGGA	0.507																																							uc001hxq.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(547-549)GGA>TGA		G protein-coupled receptor 137B							215.0	186.0	196.0					1																	236341796		2203	4300	6503	SO:0001587	stop_gained	7107					integral to plasma membrane|membrane fraction		g.chr1:236341796G>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.547G>T	1.37:g.236341796G>T	ENSP00000355551:p.Gly183*					GPR137B_uc001hxr.1_5'UTR|GPR137B_uc009xge.2_RNA	p.G183*	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	638	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	183			Extracellular (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Nonsense_Mutation	SNP	ENST00000366592.3	37	c.547G>T	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364783	0.82463	.	.	ENSG00000077585	ENST00000366592;ENST00000391852	.	.	.	5.7	4.77	0.60923	.	0.552794	0.20600	N	0.089179	.	.	.	.	.	.	0.25235	N	0.989796	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-9.92	15.9037	0.79403	0.0:0.2715:0.7285:0.0	.	.	.	.	X	183;182	.	ENSP00000355551:G183X	G	+	1	0	GPR137B	234408419	0.995000	0.38212	0.071000	0.20095	0.977000	0.68977	3.746000	0.55127	1.366000	0.46076	0.561000	0.74099	GGA		0.507	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		25	115	1	0	1.66031e-10	0.003954	2.43116e-10	25	115				
RYR2	6262	broad.mit.edu	37	1	237774140	237774140	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237774140G>T	ENST00000366574.2	+	36	5079	c.4762G>T	c.(4762-4764)Gtg>Ttg	p.V1588L	RYR2_ENST00000542537.1_Missense_Mutation_p.V1572L|RYR2_ENST00000360064.6_Missense_Mutation_p.V1586L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1588	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V1586L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGCCTCCACGTGCAGTTCCT	0.562																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4762-4764)GTG>TTG		cardiac muscle ryanodine receptor							56.0	56.0	56.0					1																	237774140		1958	4131	6089	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774140G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4762G>T	1.37:g.237774140G>T	ENSP00000355533:p.Val1588Leu						p.V1588L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4882	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1588			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4762G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944602	0.92593	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97811	-4.55;-4.52;-4.54	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000038	D	0.97291	0.9114	M	0.76574	2.34	0.80722	D	1	P	0.49447	0.924	B	0.43889	0.435	D	0.98095	1.0411	10	0.72032	D	0.01	.	19.0203	0.92912	0.0:0.0:1.0:0.0	.	1588	Q92736	RYR2_HUMAN	L	1588;1586;1572	ENSP00000355533:V1588L;ENSP00000353174:V1586L;ENSP00000443798:V1572L	ENSP00000353174:V1586L	V	+	1	0	RYR2	235840763	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	7.725000	0.84808	2.715000	0.92844	0.655000	0.94253	GTG		0.562	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	16	1	0	0.000673444	0.008291	0.000736708	11	16				
RYR2	6262	broad.mit.edu	37	1	237798224	237798224	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237798224G>T	ENST00000366574.2	+	44	7041	c.6724G>T	c.(6724-6726)Gtg>Ttg	p.V2242L	RYR2_ENST00000542537.1_Missense_Mutation_p.V2226L|RYR2_ENST00000360064.6_Missense_Mutation_p.V2240L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2242	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V2240L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCACTGGATGTGGCTGCAGC	0.433																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6724-6726)GTG>TTG		cardiac muscle ryanodine receptor							61.0	63.0	62.0					1																	237798224		1937	4144	6081	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237798224G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6724G>T	1.37:g.237798224G>T	ENSP00000355533:p.Val2242Leu						p.V2242L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		44	6844	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2242			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6724G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003633	0.93287	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.21;-4.21	4.79	4.79	0.61399	Intracellular calcium-release channel (1);	0.000000	0.56097	D	0.000039	D	0.98012	0.9345	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99110	1.0846	10	0.87932	D	0	.	18.1955	0.89820	0.0:0.0:1.0:0.0	.	2242	Q92736	RYR2_HUMAN	L	2242;2240;2226	ENSP00000355533:V2242L;ENSP00000353174:V2240L;ENSP00000443798:V2226L	ENSP00000353174:V2240L	V	+	1	0	RYR2	235864847	1.000000	0.71417	0.991000	0.47740	0.903000	0.53119	9.813000	0.99286	2.353000	0.79882	0.591000	0.81541	GTG		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	10	1	0	1.12685e-05	0.004482	1.34403e-05	7	10				
RYR2	6262	broad.mit.edu	37	1	237802371	237802371	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237802371G>A	ENST00000366574.2	+	46	7302	c.6985G>A	c.(6985-6987)Gag>Aag	p.E2329K	RYR2_ENST00000542537.1_Missense_Mutation_p.E2313K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2327K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2329	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2327K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGGAGGCCTGAGTGTTTTGG	0.468																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6985-6987)GAG>AAG		cardiac muscle ryanodine receptor							140.0	144.0	143.0					1																	237802371		1924	4137	6061	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802371G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6985G>A	1.37:g.237802371G>A	ENSP00000355533:p.Glu2329Lys						p.E2329K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7105	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2329			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6985G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489243	0.96323	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95554	-3.74;-3.74;-3.74	5.05	5.05	0.67936	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97666	0.9235	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98408	1.0571	10	0.87932	D	0	.	18.7649	0.91868	0.0:0.0:1.0:0.0	.	2329	Q92736	RYR2_HUMAN	K	2329;2327;2313	ENSP00000355533:E2329K;ENSP00000353174:E2327K;ENSP00000443798:E2313K	ENSP00000353174:E2327K	E	+	1	0	RYR2	235868994	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.675000	0.98638	2.498000	0.84270	0.561000	0.74099	GAG		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	17	0	0	0	0.006214	0	5	17				
ZP4	57829	broad.mit.edu	37	1	238050727	238050727	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:238050727G>T	ENST00000366570.4	-	5	846	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	230	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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.Q230K(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)			ACAAAAGCTTGTGTTGCCATC	0.522																																					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.(688-690)CAA>AAA		zona pellucida glycoprotein 4 preproprotein							173.0	163.0	166.0					1																	238050727		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.chr1:238050727G>T	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.688C>A	1.37:g.238050727G>T	ENSP00000355529:p.Gln230Lys					LOC100130331_uc010pyc.1_Intron	p.Q230K	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	688	-	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)	230			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.688C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	0.293	-0.978879	0.02197	.	.	ENSG00000116996	ENST00000366570	D	0.81579	-1.51	5.26	3.14	0.36123	Zona pellucida sperm-binding protein (3);	1.462090	0.04221	N	0.333531	T	0.71854	0.3389	L	0.35542	1.07	0.09310	N	1	B	0.13145	0.007	B	0.22152	0.038	T	0.54609	-0.8268	10	0.17832	T	0.49	-0.0173	6.7693	0.23585	0.1009:0.0:0.6456:0.2535	.	230	Q12836	ZP4_HUMAN	K	230	ENSP00000355529:Q230K	ENSP00000355529:Q230K	Q	-	1	0	ZP4	236117350	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.154000	0.16343	1.179000	0.42884	0.655000	0.94253	CAA		0.522	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			28	100	1	0	6.04164e-23	0.002096	1.11433e-22	28	100				
RGS7	6000	broad.mit.edu	37	1	240969465	240969465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:240969465C>A	ENST00000407727.1	-	14	1243	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	RGS7_ENST00000446183.2_Missense_Mutation_p.G331V|RGS7_ENST00000331110.7_Missense_Mutation_p.G389V|RGS7_ENST00000348120.2_Missense_Mutation_p.G362V|RGS7_ENST00000366565.1_Missense_Mutation_p.G415V|RGS7_ENST00000366562.4_Missense_Mutation_p.G415V|RGS7_ENST00000401882.1_Missense_Mutation_p.G362V|RGS7_ENST00000366564.1_Missense_Mutation_p.G415V|RGS7_ENST00000366563.1_Missense_Mutation_p.G415V			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	415	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.G415V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTGTATCGTCCAGGTTCCTT	0.463																																							uc001hyv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1243-1245)GGA>GTA		regulator of G-protein signaling 7							194.0	163.0	174.0					1																	240969465		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240969465C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1244G>T	1.37:g.240969465C>A	ENSP00000384428:p.Gly415Val					RGS7_uc010pyh.1_Missense_Mutation_p.G389V|RGS7_uc010pyj.1_Missense_Mutation_p.G331V|RGS7_uc001hyu.2_Missense_Mutation_p.G415V|RGS7_uc009xgn.1_Missense_Mutation_p.G362V|RGS7_uc001hyw.2_Missense_Mutation_p.G415V|RGS7_uc001hyt.2_Missense_Mutation_p.G247V	p.G415V	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		15	1574	-		all_cancers(173;0.0131)	415			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1244G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.135198	0.94517	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59	6.16	6.16	0.99307	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.55834	1.745	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;1.0;0.987;0.994	D;D;D;D;D;P;D	0.97110	0.99;0.985;1.0;0.982;0.999;0.798;0.96	T	0.00065	-1.2148	10	0.62326	D	0.03	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	331;389;362;415;415;415;415	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	V	389;415;415;415;246;362;331;415;415;362	ENSP00000331485:G389V;ENSP00000355523:G415V;ENSP00000355522:G415V;ENSP00000355521:G415V;ENSP00000404399:G246V;ENSP00000341242:G362V;ENSP00000390138:G331V;ENSP00000355520:G415V;ENSP00000384428:G415V;ENSP00000385508:G362V	ENSP00000331485:G389V	G	-	2	0	RGS7	239036088	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGA		0.463	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		22	106	1	0	3.65163e-15	0.00632	6.08502e-15	22	106				
KMO	8564	broad.mit.edu	37	1	241752098	241752098	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:241752098C>G	ENST00000366559.4	+	12	1375	c.1064C>G	c.(1063-1065)gCg>gGg	p.A355G	KMO_ENST00000366558.3_Missense_Mutation_p.A355G|KMO_ENST00000366557.4_Missense_Mutation_p.A355G	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.A355G(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATGATCACGCGATTTCAGAC	0.363																																							uc009xgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1063-1065)GCG>GGG		kynurenine 3-monooxygenase							184.0	170.0	175.0					1																	241752098		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241752098C>G	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1064C>G	1.37:g.241752098C>G	ENSP00000355517:p.Ala355Gly					KMO_uc001hyy.2_Missense_Mutation_p.A355G|KMO_uc009xgo.1_Missense_Mutation_p.A355G	p.A355G	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		12	1129	+	Ovarian(103;0.103)|all_lung(81;0.23)		355						Missense_Mutation	SNP	ENST00000366559.4	37	c.1064C>G	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539967	0.65085	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.988;1.0	T	0.77651	-0.2508	10	0.87932	D	0	.	16.1399	0.81515	0.0:1.0:0.0:0.0	.	355;355;355	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	G	355	ENSP00000355517:A355G;ENSP00000355516:A355G;ENSP00000355515:A355G	ENSP00000355515:A355G	A	+	2	0	KMO	239818721	1.000000	0.71417	0.979000	0.43373	0.052000	0.14988	6.616000	0.74205	2.880000	0.98712	0.650000	0.86243	GCG		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		18	85	0	0	0	0.008871	0	18	85				
EXO1	9156	broad.mit.edu	37	1	242016740	242016740	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:242016740G>C	ENST00000366548.3	+	6	955	c.362G>C	c.(361-363)cGg>cCg	p.R121P	EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.R121P|EXO1_ENST00000518483.1_Missense_Mutation_p.R121P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	121					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.R121P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGTTTCACCCGGTCTATCAAT	0.438								Editing and processing nucleases																															uc001hzh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(361-363)CGG>CCG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							97.0	99.0	98.0					1																	242016740		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242016740G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.362G>C	1.37:g.242016740G>C	ENSP00000355506:p.Arg121Pro					EXO1_uc001hzi.2_Missense_Mutation_p.R121P|EXO1_uc001hzj.2_Missense_Mutation_p.R121P|EXO1_uc009xgq.2_Missense_Mutation_p.R121P	p.R121P	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		6	902	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	121					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.362G>C	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811417	0.50527	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000523590;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497;ENST00000450748	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.44	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.994;0.996;0.999	P;P;D	0.64321	0.834;0.902;0.924	T	0.74847	-0.3525	10	0.87932	D	0	0.0079	14.1258	0.65219	0.0737:0.0:0.9263:0.0	.	121;121;121	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	P	121;81;81;121;81;121;81;121	ENSP00000355506:R121P;ENSP00000415531:R81P;ENSP00000430082:R81P;ENSP00000311873:R121P;ENSP00000430251:R121P;ENSP00000412041:R81P;ENSP00000406652:R121P	ENSP00000311873:R121P	R	+	2	0	EXO1	240083363	1.000000	0.71417	0.048000	0.18961	0.072000	0.16883	7.520000	0.81821	1.435000	0.47434	0.655000	0.94253	CGG		0.438	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		42	153	0	0	0	0.00361	0	42	153				
ZBTB18	10472	broad.mit.edu	37	1	244218404	244218404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:244218404G>T	ENST00000358704.4	+	2	1477	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	434					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G434V(1)									ACTCACTCGGGGGAGAAGCCC	0.632																																							uc001iae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1300-1302)GGG>GTG		zinc finger protein 238 isoform 2							69.0	71.0	70.0					1																	244218404		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218404G>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1328G>T	1.37:g.244218404G>T	ENSP00000351539:p.Gly443Val					ZNF238_uc001iad.3_Missense_Mutation_p.G443V|ZNF238_uc001iaf.1_3'UTR	p.G434V	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1823	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		434					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1301G>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293026	0.60086	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.23552	1.9	5.68	5.68	0.88126	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.62058	-0.6934	10	0.87932	D	0	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	434;443	Q99592;Q99592-2	ZN238_HUMAN;.	V	443	ENSP00000351539:G443V	ENSP00000351539:G443V	G	+	2	0	ZNF238	242285027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GGG		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		9	176	1	0	0.000673444	0.008291	0.000736708	9	176				
KIF26B	55083	broad.mit.edu	37	1	245530532	245530532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:245530532G>T	ENST00000407071.2	+	3	1302	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	288					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A288S(2)|p.A88S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACCCACCAGGCCAAGGTCAG	0.602																																							uc001ibf.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(862-864)GCC>TCC		kinesin family member 26B							33.0	45.0	41.0					1																	245530532		2050	4184	6234	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530532G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.862G>T	1.37:g.245530532G>T	ENSP00000385545:p.Ala288Ser					KIF26B_uc010pyq.1_Missense_Mutation_p.A288S|KIF26B_uc010pyr.1_Missense_Mutation_p.A88S	p.A288S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1302	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		288					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.862G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241940	0.58995	.	.	ENSG00000162849	ENST00000407071	T	0.77489	-1.1	5.75	5.75	0.90469	.	0.746815	0.12486	N	0.464712	T	0.73110	0.3545	L	0.43152	1.355	0.80722	D	1	B;B	0.31769	0.047;0.339	B;B	0.27500	0.015;0.08	T	0.67019	-0.5776	10	0.22706	T	0.39	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	288;288	B4DF75;Q2KJY2	.;KI26B_HUMAN	S	288	ENSP00000385545:A288S	ENSP00000385545:A288S	A	+	1	0	KIF26B	243597155	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.065000	0.64344	2.716000	0.92895	0.655000	0.94253	GCC		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	27	1	0	1.23904e-05	0.000602	1.47337e-05	5	27				
CNST	163882	broad.mit.edu	37	1	246811284	246811284	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:246811284C>T	ENST00000366513.4	+	9	2050	c.1781C>T	c.(1780-1782)tCt>tTt	p.S594F	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S594F	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	594					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.S594F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AATCTGCCTTCTGATGAGAGC	0.403																																							uc001ibp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1780-1782)TCT>TTT		hypothetical protein LOC163882 isoform 1							86.0	90.0	89.0					1																	246811284		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811284C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1781C>T	1.37:g.246811284C>T	ENSP00000355470:p.Ser594Phe					CNST_uc001ibo.3_Missense_Mutation_p.S594F	p.S594F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	2159	+			594					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1781C>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371355	0.61624	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.20738	2.12;2.05	5.62	5.62	0.85841	.	0.448089	0.21922	N	0.067155	T	0.34193	0.0889	M	0.66939	2.045	0.80722	D	1	P;D	0.57571	0.919;0.98	P;P	0.54312	0.682;0.748	T	0.04191	-1.0970	10	0.59425	D	0.04	-20.5468	9.0469	0.36352	0.0:0.8759:0.0:0.1241	.	594;594	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	F	594	ENSP00000355470:S594F;ENSP00000355469:S594F	ENSP00000355469:S594F	S	+	2	0	CNST	244877907	0.936000	0.31750	0.554000	0.28268	0.736000	0.42039	3.048000	0.49862	2.809000	0.96659	0.467000	0.42956	TCT		0.403	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		20	241	0	0	0	0.001882	0	20	241				
AHCTF1	25909	broad.mit.edu	37	1	247057967	247057967	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247057967T>C	ENST00000391829.2	-	14	1921	c.1798A>G	c.(1798-1800)Aga>Gga	p.R600G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R609G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R635G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	600	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R600G(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACATAGTCTGTCAAATTCC	0.299																																					Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(1798-1800)AGA>GGA		transcription factor ELYS							68.0	66.0	67.0					1																	247057967		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247057967T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1798A>G	1.37:g.247057967T>C	ENSP00000375705:p.Arg600Gly					AHCTF1_uc001ibv.1_Missense_Mutation_p.R609G|AHCTF1_uc009xgs.1_5'UTR	p.R600G	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		13	1805	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	600			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.1798A>G		.	.	.	.	.	.	.	.	.	.	T	13.01	2.108773	0.37242	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33216	1.42;1.43;1.43	5.4	3.11	0.35812	.	0.191926	0.45867	D	0.000339	T	0.20170	0.0485	N	0.12182	0.205	0.30393	N	0.780812	P;B	0.46142	0.873;0.024	P;B	0.44811	0.461;0.005	T	0.06534	-1.0821	10	0.31617	T	0.26	-10.8653	12.3414	0.55095	0.0:0.0:0.4523:0.5477	.	635;600	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	G	635;609;600	ENSP00000355464:R635G;ENSP00000355465:R609G;ENSP00000375705:R600G	ENSP00000355465:R609G	R	-	1	2	AHCTF1	245124590	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	2.496000	0.45346	0.875000	0.35847	0.528000	0.53228	AGA		0.299	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		6	80	0	0	0	0.001984	0	6	80				
ZNF496	84838	broad.mit.edu	37	1	247464362	247464362	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247464362C>A	ENST00000294753.4	-	9	1687	c.1223G>T	c.(1222-1224)tGt>tTt	p.C408F	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.C444F	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	408					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.C408F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACAGTTCGGACACACGTAGGA	0.662																																							uc001ico.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1222-1224)TGT>TTT		zinc finger protein 496							50.0	48.0	49.0					1																	247464362		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464362C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1223G>T	1.37:g.247464362C>A	ENSP00000294753:p.Cys408Phe					ZNF496_uc009xgv.2_Missense_Mutation_p.C444F|ZNF496_uc001icp.2_Missense_Mutation_p.C408F	p.C408F	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1688	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		408			C2H2-type 1; degenerate.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1223G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432535	0.83776	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	D;D	0.99974	-10.2;-10.2	4.5	4.5	0.54988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	D	0.99977	0.9993	M	0.93328	3.405	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.96545	0.9403	10	0.87932	D	0	-33.7768	15.1086	0.72338	0.0:1.0:0.0:0.0	.	444;408	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	F	408;444	ENSP00000294753:C408F;ENSP00000355454:C444F	ENSP00000294753:C408F	C	-	2	0	ZNF496	245530985	1.000000	0.71417	0.984000	0.44739	0.915000	0.54546	6.971000	0.76105	2.502000	0.84385	0.655000	0.94253	TGT		0.662	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		23	108	1	0	9.95505e-16	0.002299	1.68312e-15	23	108				
NLRP3	114548	broad.mit.edu	37	1	247588039	247588039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247588039C>A	ENST00000336119.3	+	3	2040	c.1294C>A	c.(1294-1296)Ctt>Att	p.L432I	NLRP3_ENST00000366497.2_Missense_Mutation_p.L432I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432I|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432I|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432I|NLRP3_ENST00000391827.2_Missense_Mutation_p.L432I	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	432	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L432I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAGAGCCTTGCCCAGAC	0.597																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1294-1296)CTT>ATT		NLR family, pyrin domain containing 3 isoform a							106.0	85.0	92.0					1																	247588039		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588039C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1294C>A	1.37:g.247588039C>A	ENSP00000337383:p.Leu432Ile					NLRP3_uc001ics.2_Missense_Mutation_p.L432I|NLRP3_uc001icu.2_Missense_Mutation_p.L432I|NLRP3_uc001icw.2_Missense_Mutation_p.L432I|NLRP3_uc001icv.2_Missense_Mutation_p.L432I|NLRP3_uc010pyw.1_Missense_Mutation_p.L430I|NLRP3_uc001ict.1_Missense_Mutation_p.L430I	p.L432I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1432	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	432			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1294C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975481	0.34848	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.17	3.24	0.37175	NACHT nucleoside triphosphatase (1);	0.192252	0.26286	N	0.025252	D	0.87188	0.6115	M	0.69185	2.1	0.09310	N	1	B;P;P;P;B	0.48230	0.114;0.744;0.907;0.847;0.329	B;B;P;P;B	0.55055	0.066;0.345;0.767;0.607;0.219	T	0.78107	-0.2333	10	0.45353	T	0.12	.	8.3936	0.32544	0.0:0.8925:0.0:0.1075	.	432;432;432;432;432	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	I	432	ENSP00000375704:L432I;ENSP00000355453:L432I;ENSP00000337383:L432I;ENSP00000294752:L432I;ENSP00000355452:L432I;ENSP00000375703:L432I	ENSP00000337383:L432I	L	+	1	0	NLRP3	245654662	0.000000	0.05858	0.016000	0.15963	0.780000	0.44128	0.334000	0.19787	1.318000	0.45170	0.655000	0.94253	CTT		0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		18	91	1	0	1.56452e-12	0.007413	2.4359e-12	18	91				
NLRP3	114548	broad.mit.edu	37	1	247597508	247597508	+	Missense_Mutation	SNP	G	G	C	rs141389711		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247597508G>C	ENST00000336119.3	+	5	3177	c.2431G>C	c.(2431-2433)Ggt>Cgt	p.G811R	NLRP3_ENST00000366497.2_Missense_Mutation_p.G811R|NLRP3_ENST00000391828.3_Missense_Mutation_p.G811R|NLRP3_ENST00000348069.2_Missense_Mutation_p.G754R|NLRP3_ENST00000366496.2_Missense_Mutation_p.G811R|NLRP3_ENST00000391827.2_Missense_Mutation_p.G754R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	811					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.G811R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAACGCCCTCGGTGACTTCGG	0.572																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2431-2433)GGT>CGT		NLR family, pyrin domain containing 3 isoform a							141.0	126.0	131.0					1																	247597508		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597508G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2431G>C	1.37:g.247597508G>C	ENSP00000337383:p.Gly811Arg					NLRP3_uc001ics.2_Missense_Mutation_p.G811R|NLRP3_uc001icu.2_Missense_Mutation_p.G811R|NLRP3_uc001icw.2_Missense_Mutation_p.G754R|NLRP3_uc001icv.2_Missense_Mutation_p.G754R|NLRP3_uc010pyw.1_Missense_Mutation_p.G789R	p.G811R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		7	2569	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	811			LRR 3.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2431G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	a	9.635	1.137465	0.21123	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.58060	0.37;0.36;0.37;0.36;0.36;0.37	3.44	2.53	0.30540	.	0.414313	0.18269	N	0.146363	T	0.53012	0.1770	L	0.56124	1.755	0.30442	N	0.776125	P;B;P;B;B	0.49783	0.754;0.174;0.928;0.402;0.072	P;B;P;B;B	0.54629	0.663;0.19;0.757;0.273;0.173	T	0.49597	-0.8923	10	0.14252	T	0.57	.	7.0678	0.25161	0.1235:0.0:0.8765:0.0	.	791;754;754;811;811	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	811;811;811;754;811;754	ENSP00000375704:G811R;ENSP00000355453:G811R;ENSP00000337383:G811R;ENSP00000294752:G754R;ENSP00000355452:G811R;ENSP00000375703:G754R	ENSP00000337383:G811R	G	+	1	0	NLRP3	245664131	0.986000	0.35501	0.810000	0.32431	0.005000	0.04900	0.674000	0.25218	1.065000	0.40693	-0.353000	0.07706	GGT		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		21	188	0	0	0	0.010504	0	21	188				
OR2G2	81470	broad.mit.edu	37	1	247751880	247751880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247751880C>A	ENST00000320065.1	+	1	219	c.219C>A	c.(217-219)taC>taA	p.Y73*	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y73*(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTTCCTGTACCGCTGCTTCA	0.463																																							uc010pyy.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(217-219)TAC>TAA		olfactory receptor, family 2, subfamily G,							213.0	182.0	192.0					1																	247751880		2203	4300	6503	SO:0001587	stop_gained	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751880C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.219C>A	1.37:g.247751880C>A	ENSP00000326349:p.Tyr73*						p.Y73*	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	219	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		73			Helical; Name=2; (Potential).		Q5JQT2|Q6IEZ0	Nonsense_Mutation	SNP	ENST00000320065.1	37	c.219C>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609105	0.46527	.	.	ENSG00000177489	ENST00000320065	.	.	.	3.87	1.92	0.25849	.	0.224136	0.21100	U	0.080167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.2299	0.20728	0.0:0.6698:0.0:0.3302	.	.	.	.	X	73	.	ENSP00000326349:Y73X	Y	+	3	2	OR2G2	245818503	0.000000	0.05858	0.997000	0.53966	0.405000	0.30901	-3.461000	0.00463	0.813000	0.34350	0.591000	0.81541	TAC		0.463	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			35	253	1	0	1.42033e-22	0.004289	2.60991e-22	35	253				
OR13G1	441933	broad.mit.edu	37	1	247835749	247835749	+	Missense_Mutation	SNP	C	C	A	rs147056410	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247835749C>A	ENST00000359688.2	-	1	616	c.595G>T	c.(595-597)Gct>Tct	p.A199S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A199S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTAATATCAGCAACATACACC	0.463																																							uc001idi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(595-597)GCT>TCT		olfactory receptor, family 13, subfamily G,							94.0	92.0	93.0					1																	247835749		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835749C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.595G>T	1.37:g.247835749C>A	ENSP00000352717:p.Ala199Ser						p.A199S	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	595	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		199			Helical; Name=5; (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.595G>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140705	0.37825	.	.	ENSG00000197437	ENST00000359688	T	0.00137	8.68	4.06	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000547	T	0.00178	0.0005	N	0.12961	0.28	0.09310	N	1	P	0.51351	0.944	P	0.60415	0.874	T	0.54662	-0.8260	10	0.48119	T	0.1	-15.5674	5.8271	0.18560	0.0:0.6957:0.1966:0.1077	.	199	Q8NGZ3	O13G1_HUMAN	S	199	ENSP00000352717:A199S	ENSP00000352717:A199S	A	-	1	0	OR13G1	245902372	0.000000	0.05858	0.016000	0.15963	0.610000	0.37248	0.242000	0.18087	1.038000	0.40049	0.563000	0.77884	GCT		0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		10	96	1	0	6.40141e-05	0.000978	7.35004e-05	10	96				
OR13G1	441933	broad.mit.edu	37	1	247836100	247836101	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247836100_247836101TG>AT	ENST00000359688.2	-	1	264_265	c.243_244CA>AT	c.(241-246)acCAtg>acATtg	p.M82L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M82L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATGTTAGCATGGTCCCCAGCA	0.465																																							uc001idi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(241-246)ACCATG>ACATTG		olfactory receptor, family 13, subfamily G,																																				SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836100_247836101TG>AT	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.243_244delinsAT	1.37:g.247836100_247836101delinsAT	ENSP00000352717:p.Met82Leu						p.M82L	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	243_244	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		82			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	DNP	ENST00000359688.2	37	c.243_244CA>AT	CCDS31094.1																																																																																				0.465	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		12	39	0	0	0	0.004672	0	12	39				
OR6F1	343169	broad.mit.edu	37	1	247875377	247875377	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247875377C>A	ENST00000302084.2	-	1	728	c.681G>T	c.(679-681)agG>agT	p.R227S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAGGGGATCCTGAGGATGG	0.527																																							uc001idj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(679-681)AGG>AGT		olfactory receptor, family 6, subfamily F,							124.0	112.0	116.0					1																	247875377		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875377C>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.681G>T	1.37:g.247875377C>A	ENSP00000305640:p.Arg227Ser						p.R227S	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	681	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		227			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.681G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790926	0.16258	.	.	ENSG00000169214	ENST00000302084	T	0.00249	8.44	3.72	-0.587	0.11690	GPCR, rhodopsin-like superfamily (1);	0.287230	0.24578	N	0.037327	T	0.00178	0.0005	L	0.61036	1.89	0.09310	N	1	P	0.43938	0.822	B	0.40825	0.341	T	0.47018	-0.9149	10	0.87932	D	0	-18.2177	3.9636	0.09421	0.324:0.4821:0.0:0.1939	.	227	Q8NGZ6	OR6F1_HUMAN	S	227	ENSP00000305640:R227S	ENSP00000305640:R227S	R	-	3	2	OR6F1	245942000	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.437000	0.06914	-0.225000	0.09913	-0.293000	0.09583	AGG		0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		21	240	1	0	4.35082e-09	0.010504	6.01715e-09	21	240				
OR2L8	391190	broad.mit.edu	37	1	248112310	248112310	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248112310G>T	ENST00000357191.3	+	1	151	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D51Y(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			CATCTTCTTGGACACCCATCT	0.408																																							uc001idt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(151-153)GAC>TAC		olfactory receptor, family 2, subfamily L,							351.0	313.0	326.0					1																	248112310		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112310G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.151G>T	1.37:g.248112310G>T	ENSP00000349719:p.Asp51Tyr					OR2L13_uc001ids.2_Intron	p.D51Y	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	151	+	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)		51			Cytoplasmic (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.151G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024241	0.35701	.	.	ENSG00000196936	ENST00000357191	T	0.21361	2.01	1.48	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55065	0.1897	H	0.95712	3.71	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.47711	-0.9096	9	0.87932	D	0	.	10.7695	0.46314	0.0:0.0:1.0:0.0	.	51	Q8NGY9	OR2L8_HUMAN	Y	51	ENSP00000349719:D51Y	ENSP00000349719:D51Y	D	+	1	0	OR2L8	246178933	0.000000	0.05858	0.021000	0.16686	0.355000	0.29361	-0.353000	0.07691	0.803000	0.34113	0.298000	0.19748	GAC		0.408	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			50	511	1	0	1.63038e-21	0.00361	2.97642e-21	50	511				
OR2L3	391192	broad.mit.edu	37	1	248224093	248224093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248224093C>A	ENST00000359959.3	+	1	110	c.110C>A	c.(109-111)gCt>gAt	p.A37D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A37D(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			TTCCTAATGGCTCTAATTGGA	0.393																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(109-111)GCT>GAT		olfactory receptor, family 2, subfamily L,							237.0	236.0	236.0					1																	248224093		2203	4297	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224093C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.110C>A	1.37:g.248224093C>A	ENSP00000353044:p.Ala37Asp					OR2L13_uc001ids.2_Intron	p.A37D	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	110	+	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)		37			Helical; Name=1; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.110C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	8.571	0.879945	0.17467	.	.	ENSG00000198128	ENST00000359959	T	0.00510	6.9	2.05	2.05	0.26809	.	.	.	.	.	T	0.01976	0.0062	M	0.89658	3.05	0.09310	N	1	D	0.54964	0.969	D	0.63192	0.912	T	0.17167	-1.0378	9	0.87932	D	0	.	11.9647	0.53027	0.0:1.0:0.0:0.0	.	37	Q8NG85	OR2L3_HUMAN	D	37	ENSP00000353044:A37D	ENSP00000353044:A37D	A	+	2	0	OR2L3	246290716	0.000000	0.05858	0.016000	0.15963	0.039000	0.13416	0.079000	0.14782	1.124000	0.41980	0.462000	0.41574	GCT		0.393	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		109	388	1	0	1.51934e-53	0.00361	3.01722e-53	109	388				
OR2L3	391192	broad.mit.edu	37	1	248224537	248224537	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248224537C>A	ENST00000359959.3	+	1	554	c.554C>A	c.(553-555)aCt>aAt	p.T185N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T185N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			GCAATGGTGACTCTGGCCTGC	0.463																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(553-555)ACT>AAT		olfactory receptor, family 2, subfamily L,							113.0	138.0	130.0					1																	248224537		2202	4298	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224537C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.554C>A	1.37:g.248224537C>A	ENSP00000353044:p.Thr185Asn					OR2L13_uc001ids.2_Intron	p.T185N	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	554	+	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)		185			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.554C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173993	0.09391	.	.	ENSG00000198128	ENST00000359959	T	0.00130	8.69	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.839333	0.09698	U	0.767425	T	0.00109	0.0003	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.29077	0.098	T	0.13710	-1.0499	10	0.52906	T	0.07	.	6.9943	0.24774	0.5028:0.4971:0.0:0.0	.	185	Q8NG85	OR2L3_HUMAN	N	185	ENSP00000353044:T185N	ENSP00000353044:T185N	T	+	2	0	OR2L3	246291160	0.000000	0.05858	0.076000	0.20297	0.003000	0.03518	-1.306000	0.02735	1.124000	0.41980	0.462000	0.41574	ACT		0.463	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		16	178	1	0	0.000308642	0.003163	0.000343751	16	178				
OR2M2	391194	broad.mit.edu	37	1	248343733	248343733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248343733G>T	ENST00000359682.2	+	1	446	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			ACCTTCTCCTGGATCCTGGGC	0.438																																							uc010pzf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(445-447)TGG>TTG		olfactory receptor, family 2, subfamily M,							176.0	184.0	181.0					1																	248343733		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343733G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.446G>T	1.37:g.248343733G>T	ENSP00000352710:p.Trp149Leu						p.W149L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	446	+	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)		149			Helical; Name=4; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.446G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	14.04	2.416544	0.42918	.	.	ENSG00000198601	ENST00000359682	T	0.58210	0.35	1.46	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29529	U	0.011900	T	0.71676	0.3368	M	0.89968	3.075	0.23440	N	0.997679	D	0.89917	1.0	D	0.97110	1.0	T	0.59484	-0.7446	10	0.87932	D	0	.	7.8094	0.29221	0.1595:0.0:0.8405:0.0	.	149	Q96R28	OR2M2_HUMAN	L	149	ENSP00000352710:W149L	ENSP00000352710:W149L	W	+	2	0	OR2M2	246410356	0.003000	0.15002	0.007000	0.13788	0.004000	0.04260	-0.420000	0.07062	0.807000	0.34208	0.298000	0.19748	TGG		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		76	255	1	0	1.91123e-38	0.00361	3.7613e-38	76	255				
OR2M3	127062	broad.mit.edu	37	1	248366486	248366486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248366486C>A	ENST00000456743.1	+	1	155	c.117C>A	c.(115-117)ttC>ttA	p.F39L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F39L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CAGTGGCCTTCATGGGAAACT	0.547																																							uc010pzg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(115-117)TTC>TTA		olfactory receptor, family 2, subfamily M,							231.0	228.0	229.0					1																	248366486		2203	4297	6500	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366486C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.117C>A	1.37:g.248366486C>A	ENSP00000389625:p.Phe39Leu						p.F39L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	117	+	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)		39			Helical; Name=1; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.117C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658172	0.00779	.	.	ENSG00000228198	ENST00000456743	T	0.01647	4.71	2.43	-1.17	0.09648	.	1.333000	0.05812	N	0.614187	T	0.00356	0.0011	N	0.00020	-2.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.51036	-0.8756	10	0.02654	T	1	.	2.0514	0.03571	0.287:0.3225:0.2842:0.1063	.	39	Q8NG83	OR2M3_HUMAN	L	39	ENSP00000389625:F39L	ENSP00000389625:F39L	F	+	3	2	OR2M3	246433109	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.442000	0.01014	-0.082000	0.12640	0.398000	0.26397	TTC		0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		39	368	1	0	1.57945e-13	0.002852	2.53537e-13	39	368				
OR2T12	127064	broad.mit.edu	37	1	248458331	248458331	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248458331G>A	ENST00000317996.1	-	1	549	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAAGCCAAACGCACCAACACG	0.552																																							uc010pzj.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(550-552)CGT>TGT		olfactory receptor, family 2, subfamily T,							177.0	133.0	148.0					1																	248458331		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458331G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.550C>T	1.37:g.248458331G>A	ENSP00000324583:p.Arg184Cys						p.R184C	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	550	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		184			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.550C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647195	0.29246	.	.	ENSG00000177201	ENST00000317996	T	0.00158	8.65	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00144	0.0004	M	0.67397	2.05	0.09310	N	1	P	0.36633	0.562	B	0.36186	0.219	T	0.33085	-0.9882	10	0.87932	D	0	.	4.2434	0.10660	0.0:0.1829:0.3205:0.4967	.	184	Q8NG77	O2T12_HUMAN	C	184	ENSP00000324583:R184C	ENSP00000324583:R184C	R	-	1	0	OR2T12	246524954	0.000000	0.05858	0.036000	0.18154	0.371000	0.29859	-3.821000	0.00358	-0.319000	0.08652	0.175000	0.17021	CGT		0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		47	161	0	0	0	0.00361	0	47	161				
OR2T12	127064	broad.mit.edu	37	1	248458840	248458840	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248458840C>A	ENST00000317996.1	-	1	40	c.41G>T	c.(40-42)gGa>gTa	p.G14V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTTAAAGAGTCCTAGGAGAAT	0.443																																							uc010pzj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(40-42)GGA>GTA		olfactory receptor, family 2, subfamily T,							80.0	80.0	80.0					1																	248458840		2203	4298	6501	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458840C>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.41G>T	1.37:g.248458840C>A	ENSP00000324583:p.Gly14Val						p.G14V	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	41	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.41G>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454829	0.26161	.	.	ENSG00000177201	ENST00000317996	T	0.00659	5.94	1.56	1.56	0.23342	.	0.000000	0.34652	U	0.003793	T	0.05227	0.0139	M	0.94021	3.485	0.23391	N	0.997778	D	0.89917	1.0	D	0.97110	1.0	T	0.04811	-1.0925	10	0.87932	D	0	.	8.5131	0.33229	0.0:0.7587:0.2413:0.0	.	14	Q8NG77	O2T12_HUMAN	V	14	ENSP00000324583:G14V	ENSP00000324583:G14V	G	-	2	0	OR2T12	246525463	0.002000	0.14202	0.003000	0.11579	0.050000	0.14768	1.089000	0.30890	0.650000	0.30769	0.184000	0.17185	GGA		0.443	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		31	272	1	0	5.6714e-07	0.002096	7.1777e-07	31	272				
OR2T4	127074	broad.mit.edu	37	1	248525336	248525336	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248525336T>A	ENST00000366475.1	+	1	454	c.454T>A	c.(454-456)Tat>Aat	p.Y152N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y152N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACCATGGCCTATGACCGCTA	0.527																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(454-456)TAT>AAT		olfactory receptor, family 2, subfamily T,							197.0	185.0	189.0					1																	248525336		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525336T>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.454T>A	1.37:g.248525336T>A	ENSP00000355431:p.Tyr152Asn						p.Y152N	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	454	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152			Helical; Name=3; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.454T>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.612320	0.66672	.	.	ENSG00000196944	ENST00000366475	T	0.01347	4.99	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000691	T	0.11110	0.0271	M	0.93898	3.47	0.39460	D	0.967543	D	0.89917	1.0	D	0.73380	0.98	T	0.01748	-1.1282	10	0.87932	D	0	.	11.6861	0.51487	0.0:0.0:0.0:1.0	.	152	Q8NH00	OR2T4_HUMAN	N	152	ENSP00000355431:Y152N	ENSP00000355431:Y152N	Y	+	1	0	OR2T4	246591959	0.929000	0.31497	0.533000	0.28001	0.818000	0.46254	2.350000	0.44063	1.205000	0.43262	0.397000	0.26171	TAT		0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		75	192	0	0	0	0.00361	0	75	192				
OR2T1	26696	broad.mit.edu	37	1	248569885	248569885	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248569885G>T	ENST00000366474.1	+	1	590	c.590G>T	c.(589-591)gGt>gTt	p.G197V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G197V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTATAGCAGGTTCCTGGTTT	0.542																																							uc010pzm.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(589-591)GGT>GTT		olfactory receptor, family 2, subfamily T,							98.0	95.0	96.0					1																	248569885		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569885G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.590G>T	1.37:g.248569885G>T	ENSP00000355430:p.Gly197Val						p.G197V	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	590	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		197			Helical; Name=4; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.590G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	11.64	1.698860	0.30142	.	.	ENSG00000175143	ENST00000366474	T	0.36520	1.25	4.84	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002091	T	0.31167	0.0788	L	0.39692	1.235	0.22096	N	0.999365	P	0.42871	0.792	P	0.46419	0.516	T	0.08827	-1.0703	10	0.52906	T	0.07	.	5.77	0.18247	0.0785:0.137:0.643:0.1416	.	197	O43869	OR2T1_HUMAN	V	197	ENSP00000355430:G197V	ENSP00000355430:G197V	G	+	2	0	OR2T1	246636508	0.000000	0.05858	0.077000	0.20336	0.996000	0.88848	0.066000	0.14489	0.615000	0.30124	0.650000	0.86243	GGT		0.542	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			26	115	1	0	1.39806e-14	0.008361	2.30048e-14	26	115				
OR2T10	127069	broad.mit.edu	37	1	248756307	248756307	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248756307C>T	ENST00000330500.2	-	1	793	c.763G>A	c.(763-765)Gct>Act	p.A255T	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A255T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTAAATAGCAGCTCCATAG	0.458																																							uc010pzn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(763-765)GCT>ACT		olfactory receptor, family 2, subfamily T,							66.0	69.0	68.0					1																	248756307		2050	4236	6286	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756307C>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.763G>A	1.37:g.248756307C>T	ENSP00000329210:p.Ala255Thr						p.A255T	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	763	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		255			Helical; Name=6; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.763G>A	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.281	0.815458	0.16607	.	.	ENSG00000184022	ENST00000330500	T	0.00169	8.63	2.35	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.63208	1.945	0.09310	N	1	B	0.30889	0.299	B	0.37833	0.259	T	0.19811	-1.0294	9	0.66056	D	0.02	.	9.1694	0.37072	0.0:0.583:0.417:0.0	.	255	Q8NGZ9	O2T10_HUMAN	T	255	ENSP00000329210:A255T	ENSP00000329210:A255T	A	-	1	0	OR2T10	246822930	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.978000	0.03778	1.123000	0.41961	0.447000	0.29281	GCT		0.458	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		10	81	0	0	0	0.008291	0	10	81				
OR14I1	401994	broad.mit.edu	37	1	248845057	248845057	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248845057C>A	ENST00000342623.3	-	1	572	c.549G>T	c.(547-549)ttG>ttT	p.L183F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183F(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACCAGGGCCAACACATGAG	0.498																																							uc001ieu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(547-549)TTG>TTT		olfactory receptor, family 14, subfamily I,							85.0	89.0	88.0					1																	248845057		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845057C>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.549G>T	1.37:g.248845057C>A	ENSP00000339726:p.Leu183Phe						p.L183F	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	549	-			183			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.549G>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	18.69	3.678053	0.68042	.	.	ENSG00000189181	ENST00000342623	T	0.00325	8.1	3.25	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	0.221407	0.20562	N	0.089890	T	0.00524	0.0017	M	0.86953	2.85	0.09310	N	1	D	0.63046	0.992	D	0.76071	0.987	T	0.50101	-0.8867	10	0.87932	D	0	.	3.0982	0.06317	0.1591:0.4199:0.313:0.108	.	183	A6ND48	O14I1_HUMAN	F	183	ENSP00000339726:L183F	ENSP00000339726:L183F	L	-	3	2	OR14I1	246911680	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-4.195000	0.00276	0.059000	0.16252	0.543000	0.68304	TTG		0.498	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		15	57	1	0	4.7546e-09	0.004007	6.5434e-09	15	57				
OR14I1	401994	broad.mit.edu	37	1	248845196	248845197	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248845196_248845197CC>AA	ENST00000342623.3	-	1	432_433	c.409_410GG>TT	c.(409-411)GGa>TTa	p.G137L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G137L(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATAGCACCCTCCTGATGTCATC	0.535																																							uc001ieu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GGA>TTA		olfactory receptor, family 14, subfamily I,																																				SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845196_248845197CC>AA		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.409_410delinsAA	1.37:g.248845196_248845197delinsAA	ENSP00000339726:p.Gly137Leu						p.G137L	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	409_410	-			137			Cytoplasmic (Potential).			Missense_Mutation	DNP	ENST00000342623.3	37	c.409_410GG>TT	CCDS31125.1																																																																																				0.535	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		4	58	0	0	0	0.004672	0	4	58				
WDR37	22884	broad.mit.edu	37	10	1170222	1170222	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:1170222G>T	ENST00000358220.1	+	12	1312	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	WDR37_ENST00000482165.1_3'UTR|WDR37_ENST00000263150.4_Missense_Mutation_p.V390L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	390								p.V390L(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGACCGCACGGTGAAAGTCTG	0.488																																							uc001igf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)GTG>TTG		WD repeat domain 37							138.0	121.0	126.0					10																	1170222		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1170222G>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1168G>T	10.37:g.1170222G>T	ENSP00000350954:p.Val390Leu					WDR37_uc009xhm.1_Missense_Mutation_p.V391L|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	p.V390L	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	12	1341	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	390			WD 5.		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.1168G>T	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315927	0.95655	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.63580	-0.05;-0.05	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.994;0.997	T	0.75150	-0.3419	10	0.49607	T	0.09	.	19.6953	0.96022	0.0:0.0:1.0:0.0	.	391;390	A8K976;Q9Y2I8	.;WDR37_HUMAN	L	390	ENSP00000350954:V390L;ENSP00000263150:V390L	ENSP00000263150:V390L	V	+	1	0	WDR37	1160222	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.671000	0.98627	2.665000	0.90641	0.591000	0.81541	GTG		0.488	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		21	113	1	0	1.2644e-06	0.010504	1.57408e-06	21	113				
ITIH2	3698	broad.mit.edu	37	10	7786920	7786920	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:7786920C>T	ENST00000358415.4	+	19	2741	c.2575C>T	c.(2575-2577)Cta>Tta	p.L859L	ITIH2_ENST00000379587.4_Silent_p.L848L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	859					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L859L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCCCACGGACTAATAGGTAA	0.453																																							uc001ijs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2575-2577)CTA>TTA		inter-alpha globulin inhibitor H2 polypeptide							118.0	106.0	110.0					10																	7786920		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786920C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2575C>T	10.37:g.7786920C>T							p.L859L	NM_002216	NP_002207	P19823	ITIH2_HUMAN			19	2737	+			859					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.2575C>T	CCDS31141.1																																																																																				0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		15	122	0	0	0	0.003163	0	15	122				
SLC39A12	221074	broad.mit.edu	37	10	18250693	18250693	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:18250693A>T	ENST00000377369.2	+	3	718	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S15C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S149C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S149C	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	149					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.S149C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGCCTACTGAGCCTCAGGCA	0.398																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(445-447)AGC>TGC		solute carrier family 39 (zinc transporter),							81.0	85.0	84.0					10																	18250693		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250693A>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.445A>T	10.37:g.18250693A>T	ENSP00000366586:p.Ser149Cys					SLC39A12_uc001ipn.2_Missense_Mutation_p.S149C|SLC39A12_uc001ipp.2_Missense_Mutation_p.S149C|SLC39A12_uc010qck.1_Missense_Mutation_p.S15C	p.S149C	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	718	+			149			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.445A>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040965	0.75732	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.63913	0.06;-0.07;0.06;-0.07	5.32	4.15	0.48705	.	0.214637	0.49305	D	0.000151	T	0.74245	0.3691	M	0.67953	2.075	0.29537	N	0.852332	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.66716	0.946;0.885;0.946	T	0.72174	-0.4370	10	0.72032	D	0.01	-3.5025	11.367	0.49677	0.9274:0.0:0.0726:0.0	.	149;149;149	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	C	149;149;149;15;69	ENSP00000366586:S149C;ENSP00000366591:S149C;ENSP00000366588:S149C;ENSP00000440445:S15C	ENSP00000366586:S149C	S	+	1	0	SLC39A12	18290699	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	2.299000	0.43611	0.808000	0.34231	0.528000	0.53228	AGC		0.398	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		24	102	0	0	0	0.00278	0	24	102				
PLXDC2	84898	broad.mit.edu	37	10	20432250	20432250	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:20432250C>T	ENST00000377252.4	+	5	1409	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.H141Y	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	190					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H190Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGAAGTCGTACATCGAATGCT	0.328																																							uc001iqg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(568-570)CAT>TAT		plexin domain containing 2 precursor							155.0	147.0	150.0					10																	20432250		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20432250C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.568C>T	10.37:g.20432250C>T	ENSP00000366460:p.His190Tyr					PLXDC2_uc001iqh.1_Missense_Mutation_p.H141Y|PLXDC2_uc009xkc.1_RNA	p.H190Y	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			5	1205	+			190			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.568C>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950176	0.92660	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.80304	-1.36;-1.36	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.943	D	0.90463	0.4447	10	0.49607	T	0.09	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	141;190	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Y	190;141;53;176	ENSP00000366460:H190Y;ENSP00000366450:H141Y	ENSP00000366446:H53Y	H	+	1	0	PLXDC2	20472256	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	7.761000	0.85260	2.756000	0.94617	0.563000	0.77884	CAT		0.328	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		12	88	0	0	0	0.001368	0	12	88				
MSRB2	22921	broad.mit.edu	37	10	23399200	23399200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:23399200G>T	ENST00000376510.3	+	3	352	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	83					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K83N(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	TGAATAACAAGGAAGCAGGAA	0.423																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	Esophageal Squamous(89;1240 1363 4973 30188 42299)	uc001iro.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AAG>AAT		methionine sulfoxide reductase B2 precursor	L-Methionine(DB00134)						102.0	97.0	99.0					10																	23399200		1923	4136	6059	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23399200G>T	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.249G>T	10.37:g.23399200G>T	ENSP00000365693:p.Lys83Asn						p.K83N	NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN			3	360	+			83					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.249G>T	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889242	0.52014	.	.	ENSG00000148450	ENST00000376510	T	0.76709	-1.04	5.83	2.55	0.30701	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.483231	0.22022	N	0.065718	T	0.68997	0.3062	L	0.51422	1.61	0.31200	N	0.699855	B	0.17038	0.02	B	0.20384	0.029	T	0.66666	-0.5866	10	0.48119	T	0.1	-12.3225	7.4817	0.27408	0.196:0.1446:0.6594:0.0	.	83	Q9Y3D2	MSRB2_HUMAN	N	83	ENSP00000365693:K83N	ENSP00000365693:K83N	K	+	3	2	MSRB2	23439206	0.972000	0.33761	0.048000	0.18961	0.822000	0.46500	0.414000	0.21164	0.783000	0.33636	0.655000	0.94253	AAG		0.423	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		11	101	1	0	1.49906e-05	0.00245	1.77827e-05	11	101				
ARHGAP21	57584	broad.mit.edu	37	10	24959289	24959289	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:24959289G>T	ENST00000396432.2	-	3	587	c.101C>A	c.(100-102)aCt>aAt	p.T34N		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	33					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.T33N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAGTGATACAGTTTCACTTTG	0.313																																							uc001isb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(100-102)ACT>AAT		Rho GTPase activating protein 21							126.0	109.0	115.0					10																	24959289		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24959289G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.101C>A	10.37:g.24959289G>T	ENSP00000379709:p.Thr34Asn					ARHGAP21_uc009xkl.1_Missense_Mutation_p.T34N|ARHGAP21_uc001isc.1_Missense_Mutation_p.T34N|ARHGAP21_uc001isd.1_Missense_Mutation_p.T34N	p.T34N	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			3	588	-			33					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.101C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916977	0.52546	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.49139	2.75;0.79;0.8;0.85	5.19	4.28	0.50868	.	0.477613	0.23750	N	0.044935	T	0.28764	0.0713	N	0.14661	0.345	0.80722	D	1	P;P;P	0.40250	0.709;0.536;0.586	B;B;B	0.37346	0.247;0.143;0.125	T	0.06162	-1.0842	10	0.34782	T	0.22	.	10.1454	0.42760	0.1533:0.0:0.8466:0.0	.	34;33;33	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	N	34;33;34;34;23	ENSP00000379709:T34N;ENSP00000365592:T34N;ENSP00000405018:T34N;ENSP00000400566:T23N	ENSP00000365592:T34N	T	-	2	0	ARHGAP21	24999295	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	3.522000	0.53480	1.297000	0.44761	0.650000	0.86243	ACT		0.313	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		10	65	1	0	6.40141e-05	0.000978	7.35004e-05	10	65				
GPR158	57512	broad.mit.edu	37	10	25840010	25840010	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:25840010C>T	ENST00000376351.3	+	6	1869	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	504					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H504Y(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTCAAACTTCACAGGTATAT	0.403																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1510-1512)CAC>TAC		G protein-coupled receptor 158 precursor							210.0	184.0	193.0					10																	25840010		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25840010C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1510C>T	10.37:g.25840010C>T	ENSP00000365529:p.His504Tyr						p.H504Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN			6	1570	+			504			Helical; Name=3; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1510C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	5.663	0.306988	0.10733	.	.	ENSG00000151025	ENST00000376351	D	0.87256	-2.23	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.076546	0.56097	D	0.000035	T	0.52964	0.1767	N	0.00063	-2.32	0.45046	D	0.998064	B	0.16166	0.016	B	0.17979	0.02	T	0.67126	-0.5749	10	0.02654	T	1	.	12.9689	0.58501	0.0:0.9257:0.0:0.0743	.	504	Q5T848	GP158_HUMAN	Y	504	ENSP00000365529:H504Y	ENSP00000365529:H504Y	H	+	1	0	GPR158	25880016	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.311000	0.65786	2.724000	0.93272	0.650000	0.86243	CAC		0.403	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		14	172	0	0	0	0.00499	0	14	172				
LRRC37A6P	387646	broad.mit.edu	37	10	27538024	27538024	+	lincRNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:27538024C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTAGGTGGACCTGTGACTTCA	0.502																																							uc001its.2		NA																	0					0						c.(1369-1371)GGT>TGT		SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555;							37.0	33.0	34.0					10																	27538024		692	1591	2283			387646							g.chr10:27538024C>A																													10.37:g.27538024C>A							p.G457C	NR_003525						1	3212	-									Missense_Mutation	SNP	ENST00000574842.1	37	c.1369G>T																																																																																					0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			26	151	1	0	3.6726e-16	0.003954	6.23614e-16	26	151				
SVIL	6840	broad.mit.edu	37	10	29775094	29775094	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:29775094G>A	ENST00000355867.4	-	26	5451	c.4699C>T	c.(4699-4701)Cgt>Tgt	p.R1567C	SVIL_ENST00000375400.3_Missense_Mutation_p.R1141C|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.R481C|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.R359C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1567C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1567	Interaction with NEB.				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.R1567C(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)				TCCATGAGACGGTAAATGCAG	0.468																																							uc001iut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(4699-4701)CGT>TGT		supervillin isoform 2							112.0	103.0	106.0					10																	29775094		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775094G>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.4699C>T	10.37:g.29775094G>A	ENSP00000348128:p.Arg1567Cys					LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.R481C|SVIL_uc001iuu.1_Missense_Mutation_p.R1141C|SVIL_uc009xlc.2_Missense_Mutation_p.R359C	p.R1567C	NM_021738	NP_068506	O95425	SVIL_HUMAN			26	5452	-		Breast(68;0.103)	1567			Gelsolin-like 2.|Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4699C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932038	0.73442	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86562	2.52;2.54;2.54;2.39;-2.14	4.45	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	M	0.78223	2.4	0.80722	D	1	D;P;P;D	0.69078	0.997;0.871;0.947;0.98	P;P;P;P	0.57009	0.761;0.481;0.811;0.652	D	0.92053	0.5650	10	0.87932	D	0	-13.8692	13.0877	0.59151	0.0782:0.0:0.9218:0.0	.	481;359;1141;1567	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	1141;1567;1567;481;521;359	ENSP00000364549:R1141C;ENSP00000364547:R1567C;ENSP00000348128:R1567C;ENSP00000445472:R481C;ENSP00000440343:R359C	ENSP00000348128:R1567C	R	-	1	0	SVIL	29815100	1.000000	0.71417	0.986000	0.45419	0.884000	0.51177	5.137000	0.64789	1.246000	0.43901	-0.222000	0.12452	CGT		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	104	0	0	0	0.003954	0	20	104				
SVIL	6840	broad.mit.edu	37	10	29812654	29812654	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:29812654C>A	ENST00000355867.4	-	15	3641	c.2889G>T	c.(2887-2889)atG>atT	p.M963I	SVIL_ENST00000375400.3_Missense_Mutation_p.M537I|SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Missense_Mutation_p.M963I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	963					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.M963I(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)				CATACTTCTCCATCCCACTGT	0.498																																							uc001iut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2887-2889)ATG>ATT		supervillin isoform 2							259.0	221.0	234.0					10																	29812654		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812654C>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.2889G>T	10.37:g.29812654C>A	ENSP00000348128:p.Met963Ile					SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.M537I	p.M963I	NM_021738	NP_068506	O95425	SVIL_HUMAN			15	3642	-		Breast(68;0.103)	963					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2889G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	6.025	0.372972	0.11409	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.10477	2.87;2.93;2.93	5.19	-6.64	0.01801	.	1.094060	0.06838	N	0.795238	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43686	-0.9376	9	.	.	.	-2.4545	5.7449	0.18114	0.2671:0.5128:0.0665:0.1536	.	537;963	O95425-2;O95425	.;SVIL_HUMAN	I	537;963;963	ENSP00000364549:M537I;ENSP00000364547:M963I;ENSP00000348128:M963I	.	M	-	3	0	SVIL	29852660	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.060000	0.11712	-0.861000	0.04094	-0.311000	0.09066	ATG		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			44	191	1	0	8.78508e-14	0.00361	1.4183e-13	44	191				
MTPAP	55149	broad.mit.edu	37	10	30602883	30602883	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:30602883T>C	ENST00000263063.4	-	9	1447	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	MTPAP_ENST00000358107.4_Silent_p.K598K|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	468	PAP-associated.				cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.K598K(1)|p.K468K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAGAATCAGGTTTGTTTTGCT	0.323																																							uc001iva.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1402-1404)AAA>AAG		PAP associated domain containing 1 precursor							38.0	40.0	39.0					10																	30602883		2203	4299	6502	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602883T>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1404A>G	10.37:g.30602883T>C						MTPAP_uc001ivb.3_Silent_p.K598K	p.K468K	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			9	1467	-			468			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.1404A>G	CCDS7165.1																																																																																				0.323	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		9	59	0	0	0	0.004482	0	9	59				
PARD3	56288	broad.mit.edu	37	10	34690798	34690798	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:34690798T>C	ENST00000374789.3	-	6	1087	c.762A>G	c.(760-762)ggA>ggG	p.G254G	PARD3_ENST00000374788.3_Silent_p.G254G|PARD3_ENST00000545260.1_Silent_p.G210G|PARD3_ENST00000340077.5_Silent_p.G254G|PARD3_ENST00000374773.1_Silent_p.G254G|PARD3_ENST00000346874.4_Silent_p.G254G|PARD3_ENST00000374790.3_Silent_p.G210G|PARD3_ENST00000374776.1_Silent_p.G254G|PARD3_ENST00000374794.3_Silent_p.G210G|PARD3_ENST00000545693.1_Silent_p.G254G|PARD3_ENST00000350537.4_Silent_p.G254G|PARD3_ENST00000544292.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	254					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G254G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCAGCATGTCCAACAGGTT	0.423																																							uc010qej.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(760-762)GGA>GGG		partitioning-defective protein 3 homolog							258.0	220.0	233.0					10																	34690798		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34690798T>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.762A>G	10.37:g.34690798T>C						PARD3_uc010qek.1_Silent_p.G254G|PARD3_uc010qel.1_Silent_p.G254G|PARD3_uc010qem.1_Silent_p.G254G|PARD3_uc010qen.1_Silent_p.G254G|PARD3_uc010qeo.1_Silent_p.G254G|PARD3_uc010qep.1_Silent_p.G210G|PARD3_uc010qeq.1_Silent_p.G210G|PARD3_uc001ixo.1_5'UTR|PARD3_uc001ixp.1_Silent_p.G119G|PARD3_uc001ixq.1_Silent_p.G254G|PARD3_uc001ixr.1_Silent_p.G254G|PARD3_uc001ixt.1_Silent_p.G75G|PARD3_uc001ixu.1_Silent_p.G210G	p.G254G	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			6	762	-		Breast(68;0.0707)	254					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.762A>G	CCDS7178.1																																																																																				0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		30	127	0	0	0	0.002836	0	30	127				
ANKRD30A	91074	broad.mit.edu	37	10	37508094	37508094	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:37508094C>A	ENST00000602533.1	+	34	3385	c.3286C>A	c.(3286-3288)Ctg>Atg	p.L1096M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.L1215M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L1096M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1152					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1096M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACCCTAAAACTGAAAGAGGA	0.348																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3286-3288)CTG>ATG		ankyrin repeat domain 30A							133.0	133.0	133.0					10																	37508094		1813	4069	5882	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508094C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3286C>A	10.37:g.37508094C>A	ENSP00000473551:p.Leu1096Met						p.L1096M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3385	+			1152			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3286C>A		.	.	.	.	.	.	.	.	.	.	c	2.822	-0.244478	0.05906	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06849	3.25;3.25	2.81	-2.11	0.07187	.	.	.	.	.	T	0.08447	0.0210	M	0.67397	2.05	0.09310	N	0.999999	B	0.31837	0.342	B	0.34346	0.18	T	0.37126	-0.9719	9	0.42905	T	0.14	.	0.9468	0.01367	0.165:0.2698:0.3251:0.2401	.	1152	Q9BXX3	AN30A_HUMAN	M	1096;1215	ENSP00000354432:L1096M;ENSP00000363792:L1215M	ENSP00000354432:L1096M	L	+	1	2	ANKRD30A	37548100	0.014000	0.17966	0.026000	0.17262	0.004000	0.04260	-0.606000	0.05654	-0.058000	0.13177	-0.924000	0.02725	CTG		0.348	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		26	164	1	0	9.80776e-20	0.00632	1.76271e-19	26	164				
ZNF33A	7581	broad.mit.edu	37	10	38345076	38345076	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38345076G>T	ENST00000458705.2	+	5	2179	c.2021G>T	c.(2020-2022)tGt>tTt	p.C674F	ZNF33A_ENST00000307441.9_Missense_Mutation_p.C674F|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C675F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C681F			Q06730	ZN33A_HUMAN	zinc finger protein 33A	674					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.C674F(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAATCTTTCTGTGTAAAATCA	0.388																																							uc001izh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2020-2022)TGT>TTT		zinc finger protein 33A isoform b							98.0	100.0	99.0					10																	38345076		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345076G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2021G>T	10.37:g.38345076G>T	ENSP00000387713:p.Cys674Phe					ZNF33A_uc001izg.2_Missense_Mutation_p.C675F|ZNF33A_uc010qev.1_Missense_Mutation_p.C681F|ZNF33A_uc001izi.1_Intron	p.C674F	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2199	+			674			C2H2-type 13.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2021G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.093117	0.00364	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34580	N	0.003851	T	0.31104	0.0786	N	0.05351	-0.065	0.09310	N	1	P;P;D	0.69078	0.952;0.873;0.997	P;B;D	0.67900	0.668;0.387;0.954	T	0.24119	-1.0169	10	0.09084	T	0.74	.	5.6082	0.17391	0.0:0.0:0.6768:0.3231	.	681;674;675	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	F	675;681;674;674	ENSP00000363747:C675F;ENSP00000402467:C681F;ENSP00000387713:C674F;ENSP00000304268:C674F	ENSP00000304268:C674F	C	+	2	0	ZNF33A	38385082	0.000000	0.05858	0.999000	0.59377	0.150000	0.21749	-2.017000	0.01445	1.044000	0.40200	0.313000	0.20887	TGT		0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		17	133	1	0	2.4624e-09	0.008871	3.43201e-09	17	133				
ZNF37A	7587	broad.mit.edu	37	10	38403744	38403744	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38403744A>G	ENST00000361085.5	+	5	422	c.77A>G	c.(76-78)gAc>gGc	p.D26G	ZNF37A_ENST00000351773.3_Missense_Mutation_p.D26G|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	26	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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D26G(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CAGCATCTGGACCCTGCTCAG	0.493																																							uc001izk.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(76-78)GAC>GGC		zinc finger protein 37a							125.0	116.0	119.0					10																	38403744		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403744A>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.77A>G	10.37:g.38403744A>G	ENSP00000354377:p.Asp26Gly					ZNF37A_uc001izl.2_Missense_Mutation_p.D26G|ZNF37A_uc001izm.2_Missense_Mutation_p.D26G	p.D26G	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			6	896	+			26			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.77A>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123848	0.37436	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.53857	0.6;0.6	2.55	0.175	0.15045	Krueppel-associated box (4);	.	.	.	.	T	0.41673	0.1169	L	0.54965	1.715	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.41342	-0.9514	9	0.59425	D	0.04	.	2.856	0.05572	0.4317:0.255:0.3133:0.0	.	26	P17032	ZN37A_HUMAN	G	26	ENSP00000329141:D26G;ENSP00000354377:D26G	ENSP00000329141:D26G	D	+	2	0	ZNF37A	38443750	0.512000	0.26186	0.358000	0.25811	0.992000	0.81027	0.857000	0.27831	0.227000	0.20999	0.377000	0.23210	GAC		0.493	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		6	91	0	0	0	0.001984	0	6	91				
HSD17B7P2	158160	broad.mit.edu	37	10	38647418	38647418	+	RNA	SNP	C	C	T	rs193171127		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38647418C>T	ENST00000494540.1	+	0	289					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		GTCATTCTTCCGGGCCTCCAA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18384	0.0		0.0	False		,,,				2504	0.0						uc010qex.1		NA																	0					0						c.(214-216)CGG>TGG		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38647418C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38647418C>T						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc010qew.1_Missense_Mutation_p.R72W|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.R72W	p.R72W							2	289	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.214C>T																																																																																					0.473	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		11	77	0	0	0	0.000978	0	11	77				
BMS1	9790	broad.mit.edu	37	10	43288497	43288497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:43288497G>T	ENST00000374518.5	+	8	1057	c.994G>T	c.(994-996)Gag>Tag	p.E332*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	332					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E332*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATGAGAAGGAGAAGCTGGT	0.493																																							uc001jaj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(994-996)GAG>TAG		BMS1-like, ribosome assembly protein							130.0	126.0	127.0					10																	43288497		2203	4300	6503	SO:0001587	stop_gained	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43288497G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.994G>T	10.37:g.43288497G>T	ENSP00000363642:p.Glu332*						p.E332*	NM_014753	NP_055568	Q14692	BMS1_HUMAN			8	1352	+			332					Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	c.994G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	39	7.674430	0.98425	.	.	ENSG00000165733	ENST00000374518	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.59	0.95506	0.0:0.0:1.0:0.0	.	.	.	.	X	332	.	ENSP00000363642:E332X	E	+	1	0	BMS1	42608503	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.243000	0.95416	2.636000	0.89361	0.573000	0.79308	GAG		0.493	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		12	169	1	0	1.08611e-07	0.000978	1.42024e-07	12	169				
TMEM72	643236	broad.mit.edu	37	10	45430239	45430239	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:45430239C>T	ENST00000544540.1	+	4	615	c.131C>T	c.(130-132)tCt>tTt	p.S44F	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	162						integral component of membrane (GO:0016021)		p.S162F(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ACCACCGGCTCTGGGGACACA	0.587																																							uc001jbn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(484-486)TCT>TTT		transmembrane protein 72							110.0	117.0	115.0					10																	45430239		1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430239C>T	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.131C>T	10.37:g.45430239C>T	ENSP00000439911:p.Ser44Phe					uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.S44F	p.S162F	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	682	+			162					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.485C>T		.	.	.	.	.	.	.	.	.	.	C	13.09	2.134287	0.37630	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.28	3.31	0.37934	.	0.615695	0.15078	N	0.281854	T	0.45296	0.1335	L	0.57536	1.79	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.20672	-1.0268	9	0.19590	T	0.45	-15.9816	9.8714	0.41177	0.1515:0.7007:0.1478:0.0	.	162	A0PK05	TMM72_HUMAN	F	162;44	.	ENSP00000374234:S162F	S	+	2	0	TMEM72	44750245	0.015000	0.18098	0.976000	0.42696	0.902000	0.53008	1.138000	0.31491	2.638000	0.89438	0.563000	0.77884	TCT		0.587	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		21	341	0	0	0	0.010504	0	21	341				
FAM21C	253725	broad.mit.edu	37	10	46222982	46222982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:46222982G>C	ENST00000336378.4	+	2	239	c.121G>C	c.(121-123)Gcg>Ccg	p.A41P	FAM21C_ENST00000540872.1_Missense_Mutation_p.A41P|FAM21C_ENST00000537517.1_Missense_Mutation_p.A41P|FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000359860.4_Missense_Mutation_p.A40P|FAM21C_ENST00000374362.2_Missense_Mutation_p.A41P	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	41					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.A40P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGCGGCCGACGCGGGCGTGAG	0.766																																							uc001jcu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)GCG>CCG		hypothetical protein LOC253725							4.0	6.0	5.0					10																	46222982		1622	3649	5271	SO:0001583	missense	253725							g.chr10:46222982G>C		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.121G>C	10.37:g.46222982G>C	ENSP00000337541:p.Ala41Pro					FAM21C_uc001jcs.1_Missense_Mutation_p.A41P|FAM21C_uc001jct.2_Missense_Mutation_p.A41P|FAM21C_uc010qfi.1_Missense_Mutation_p.A41P	p.A41P	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			2	220	+			41					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.121G>C		.	.	.	.	.	.	.	.	.	.	G	19.57	3.852808	0.71719	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848	.	.	.	4.2	4.2	0.49525	.	0.065212	0.64402	D	0.000007	T	0.68265	0.2982	M	0.81942	2.565	0.25663	N	0.985972	D;D;D;D	0.76494	0.997;0.999;0.999;0.966	D;D;D;P	0.70487	0.935;0.969;0.969;0.823	T	0.63001	-0.6734	9	0.72032	D	0.01	-0.8566	14.0837	0.64942	0.0:0.0:1.0:0.0	.	41;41;41;41	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	P	41;41;41;41;41;40;41	.	ENSP00000337541:A41P	A	+	1	0	FAM21C	45542988	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	4.022000	0.57203	2.153000	0.67306	0.563000	0.77884	GCG		0.766	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	8	0	0	0	0.000602	0	3	8				
C10orf71	118461	broad.mit.edu	37	10	50532407	50532407	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50532407G>T	ENST00000374144.3	+	3	2105	c.1817G>T	c.(1816-1818)gGg>gTg	p.G606V	C10orf71_ENST00000323868.4_Missense_Mutation_p.G606V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	606								p.G606V(2)		endometrium(1)	1						TATGTCAATGGGGAGGCTGCT	0.557																																							uc010qgp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1816-1818)GGG>GTG		hypothetical protein LOC118461 isoform 2							36.0	36.0	36.0					10																	50532407		1939	4150	6089	SO:0001583	missense	118461							g.chr10:50532407G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1817G>T	10.37:g.50532407G>T	ENSP00000363259:p.Gly606Val						p.G606V	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	2156	+			606					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1817G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990615	0.35131	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.39229	1.09;3.33	5.8	5.8	0.92144	.	0.000000	0.36972	N	0.002302	T	0.57095	0.2030	L	0.57536	1.79	0.24093	N	0.995907	D	0.76494	0.999	D	0.63033	0.91	T	0.54377	-0.8303	10	0.66056	D	0.02	.	12.8148	0.57658	0.0:0.0:0.7957:0.2043	.	606	Q711Q0-3	.	V	606	ENSP00000318713:G606V;ENSP00000363259:G606V	ENSP00000318713:G606V	G	+	2	0	C10orf71	50202413	0.975000	0.34042	0.169000	0.22859	0.001000	0.01503	1.112000	0.31172	2.746000	0.94184	0.591000	0.81541	GGG		0.557	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		11	18	1	0	6.31663e-08	0.003163	8.32627e-08	11	18				
ERCC6	2074	broad.mit.edu	37	10	50736571	50736571	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50736571C>A	ENST00000355832.5	-	4	622	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	PGBD3_ENST00000603152.1_Splice_Site_p.E182*|ERCC6-PGBD3_ENST00000515869.1_Splice_Site_p.E182*|ERCC6-PGBD3_ENST00000447839.2_Splice_Site_p.E182*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	182					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.E182*(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCTGTTGTTCCTTGAATGGT	0.348								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(544-546)GAA>TAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							125.0	113.0	117.0					10																	50736571		2203	4300	6503	SO:0001630	splice_region_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50736571C>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.544-1G>T	10.37:g.50736571C>A						PGBD3_uc009xoe.2_Nonsense_Mutation_p.E182*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.E182*	p.E182*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			4	698	-			182					D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	c.544G>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210171	0.97380	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-32.7258	19.0147	0.92889	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000348089:E182X	E	-	1	0	ERCC6;RP11-123B3.6	50406577	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.044000	0.76578	2.575000	0.86900	0.655000	0.94253	GAA		0.348	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	Nonsense_Mutation	13	50	1	0	5.50884e-06	0.001368	6.62272e-06	13	50				
SLC18A3	6572	broad.mit.edu	37	10	50818978	50818978	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50818978G>C	ENST00000374115.3	+	1	632	c.192G>C	c.(190-192)atG>atC	p.M64I	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	64					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.M64I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGCCCACATGCGCGGGGGCG	0.662																																							uc001jhw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(190-192)ATG>ATC		vesicular acetylcholine transporter							36.0	29.0	31.0					10																	50818978		2201	4300	6501	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50818978G>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.192G>C	10.37:g.50818978G>C	ENSP00000363229:p.Met64Ile					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	p.M64I	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	632	+			64			Lumenal, vesicle (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.192G>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334153	0.05278	.	.	ENSG00000187714	ENST00000374115	T	0.80033	-1.33	4.94	4.04	0.47022	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.278821	0.29480	U	0.012031	T	0.50188	0.1601	N	0.01076	-1.035	0.27462	N	0.953121	B	0.12013	0.005	B	0.12156	0.007	T	0.38090	-0.9677	10	0.02654	T	1	-1.3578	13.383	0.60780	0.0767:0.0:0.9233:0.0	.	64	Q16572	VACHT_HUMAN	I	64	ENSP00000363229:M64I	ENSP00000363229:M64I	M	+	3	0	SLC18A3	50488984	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	2.273000	0.43381	1.078000	0.41014	0.561000	0.74099	ATG		0.662	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		8	25	0	0	0	0.006214	0	8	25				
A1CF	29974	broad.mit.edu	37	10	52566492	52566492	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:52566492G>T	ENST00000373993.1	-	11	1826	c.1782C>A	c.(1780-1782)ttC>ttA	p.F594L	A1CF_ENST00000395489.2_Missense_Mutation_p.F587L|A1CF_ENST00000374001.2_Missense_Mutation_p.F586L|A1CF_ENST00000395495.1_Missense_Mutation_p.F539L|A1CF_ENST00000282641.2_Missense_Mutation_p.F594L|A1CF_ENST00000373995.3_Missense_Mutation_p.F594L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.F586L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	594					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.F594L(1)|p.F586L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGCATCTTCAGAAGGTGCCAT	0.378																																							uc001jjj.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1780-1782)TTC>TTA		apobec-1 complementation factor isoform 2							82.0	79.0	80.0					10																	52566492		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566492G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1782C>A	10.37:g.52566492G>T	ENSP00000363105:p.Phe594Leu					A1CF_uc010qhn.1_Missense_Mutation_p.F594L|A1CF_uc001jji.2_Missense_Mutation_p.F586L|A1CF_uc001jjh.2_Missense_Mutation_p.F594L|A1CF_uc010qho.1_Missense_Mutation_p.F602L|A1CF_uc009xov.2_Missense_Mutation_p.F586L	p.F594L	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			13	1970	-			594					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1782C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592134	0.46214	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.18657	2.55;2.55;2.55;2.49;2.55;2.2;2.53	5.74	2.87	0.33458	.	0.054067	0.64402	D	0.000001	T	0.14270	0.0345	L	0.27053	0.805	0.42835	D	0.994038	P;B;B;B	0.37207	0.587;0.243;0.356;0.4	B;B;B;B	0.38156	0.266;0.097;0.197;0.173	T	0.05419	-1.0886	10	0.72032	D	0.01	.	7.2723	0.26264	0.3116:0.0:0.6884:0.0	.	587;594;586;594	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	L	586;594;586;594;594;539;569;587	ENSP00000363113:F586L;ENSP00000363105:F594L;ENSP00000363109:F586L;ENSP00000363107:F594L;ENSP00000282641:F594L;ENSP00000378873:F539L;ENSP00000378868:F587L	ENSP00000282641:F594L	F	-	3	2	A1CF	52236498	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.537000	0.45702	1.434000	0.47414	-0.157000	0.13467	TTC		0.378	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		19	63	1	0	1.40151e-16	0.010504	2.39841e-16	19	63				
PCDH15	65217	broad.mit.edu	37	10	55626410	55626410	+	Missense_Mutation	SNP	C	C	A	rs371278220		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:55626410C>A	ENST00000320301.6	-	27	4103	c.3709G>T	c.(3709-3711)Gat>Tat	p.D1237Y	PCDH15_ENST00000409834.1_Missense_Mutation_p.D848Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1166Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1237Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1215Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1244Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1244Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1200Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1242Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1237Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1237Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1237	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1237Y(2)|p.D1242Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACGAGTACATCGGCTTTGCCG	0.383										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3709-3711)GAT>TAT		protocadherin 15 isoform CD1-4 precursor							90.0	77.0	81.0					10																	55626410		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626410C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3709G>T	10.37:g.55626410C>A	ENSP00000322604:p.Asp1237Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D1242Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D1237Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D1249Y|PCDH15_uc010qht.1_Missense_Mutation_p.D1244Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D1237Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1237Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1200Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1166Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D1242Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1237Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1215Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1215Y	p.D1237Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			27	4104	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1237			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3709G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175858	0.57692	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60274	0.2256	L	0.35542	1.07	0.52501	D	0.999952	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.997;0.997;0.994;0.999;0.998;0.983;0.995;0.995;0.988;0.997;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.77004	0.989;0.987;0.982;0.976;0.976;0.987;0.989;0.964;0.963;0.963;0.963;0.976;0.976	T	0.60125	-0.7324	9	0.49607	T	0.09	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	1215;1237;1237;1242;1166;1200;1237;1237;1244;1244;1237;1242;1237	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	1244;1242;1237;1237;848;1244;1200;1237;1215;1237;1237;1242;1166	ENSP00000363076:D1244Y;ENSP00000410304:D1242Y;ENSP00000378826:D1237Y;ENSP00000386693:D848Y;ENSP00000378832:D1244Y;ENSP00000378820:D1200Y;ENSP00000354950:D1237Y;ENSP00000378821:D1215Y;ENSP00000322604:D1237Y;ENSP00000378818:D1237Y;ENSP00000412628:D1166Y	ENSP00000322604:D1237Y	D	-	1	0	PCDH15	55296416	0.996000	0.38824	1.000000	0.80357	0.333000	0.28666	2.528000	0.45624	2.571000	0.86741	0.563000	0.77884	GAT		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	32	1	0	1.5842e-08	0.001855	2.15163e-08	12	32				
BICC1	80114	broad.mit.edu	37	10	60573624	60573624	+	Missense_Mutation	SNP	G	G	C	rs372894085		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:60573624G>C	ENST00000373886.3	+	18	2415	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P	BICC1_ENST00000263103.1_Missense_Mutation_p.R430P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	804					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R804P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCCAACAGTCGTGAGCACTTG	0.473																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2410-2412)CGT>CCT		bicaudal C homolog 1							160.0	148.0	152.0					10																	60573624		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573624G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2411G>C	10.37:g.60573624G>C	ENSP00000362993:p.Arg804Pro					BICC1_uc001jkj.1_Missense_Mutation_p.R445P	p.R804P	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			18	2411	+			804						Missense_Mutation	SNP	ENST00000373886.3	37	c.2411G>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985934	0.93044	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.50001	1.67;0.76	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.65005	-0.6273	10	0.72032	D	0.01	-12.4345	18.7374	0.91761	0.0:0.0:1.0:0.0	.	724;804	E7EU62;Q9H694	.;BICC1_HUMAN	P	804;430	ENSP00000362993:R804P;ENSP00000263103:R430P	ENSP00000263103:R430P	R	+	2	0	BICC1	60243630	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.313000	0.96297	2.861000	0.98227	0.655000	0.94253	CGT		0.473	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		7	153	0	0	0	0.001984	0	7	153				
PALD1	27143	broad.mit.edu	37	10	72285877	72285878	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:72285877_72285878CC>AA	ENST00000263563.6	+	2	438_439	c.170_171CC>AA	c.(169-171)gCC>gAA	p.A57E		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	57						cytosol (GO:0005829)		p.A57E(1)									AACAAGGTGGCCCCTGTTGTGA	0.599																																							uc001jrd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(169-171)GCC>GAA		KIAA1274																																				SO:0001583	missense	27143							g.chr10:72285877_72285878CC>AA	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	Exception_encountered	10.37:g.72285877_72285878delinsAA	ENSP00000263563:p.Ala57Glu						p.A57E	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			2	451_452	+			57					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	DNP	ENST00000263563.6	37	c.170_171CC>AA	CCDS31215.1																																																																																				0.599	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		7	58	0	0	0	0.004672	0	7	58				
ADAMTS14	140766	broad.mit.edu	37	10	72493775	72493775	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:72493775G>T	ENST00000373207.1	+	8	1343	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R451L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	448	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R451L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCTCAGCCGCTACCTCCCG	0.637																																							uc001jrh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1342-1344)CGC>CTC		ADAM metallopeptidase with thrombospondin type 1							60.0	53.0	55.0					10																	72493775		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72493775G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1343G>T	10.37:g.72493775G>T	ENSP00000362303:p.Arg448Leu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.R451L|ADAMTS14_uc001jri.1_5'UTR	p.R448L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			8	1343	+			448			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1343G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846101	0.71603	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.87029	-2.2;-2.2	3.79	3.79	0.43588	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	D	0.87470	0.6185	M	0.76574	2.34	0.48135	D	0.999597	P;B	0.37914	0.611;0.253	B;B	0.39068	0.289;0.199	D	0.89811	0.3982	10	0.66056	D	0.02	.	15.7881	0.78326	0.0:0.0:1.0:0.0	.	448;451	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	451;448	ENSP00000362304:R451L;ENSP00000362303:R448L	ENSP00000362303:R448L	R	+	2	0	ADAMTS14	72163781	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.652000	0.98499	2.117000	0.64856	0.462000	0.41574	CGC		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		8	80	1	0	0.00621372	0.006214	0.00654636	8	80				
UNC5B	219699	broad.mit.edu	37	10	73051452	73051452	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:73051452C>A	ENST00000335350.6	+	10	1974	c.1558C>A	c.(1558-1560)Cac>Aac	p.H520N	UNC5B_ENST00000373192.4_Missense_Mutation_p.H509N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	520					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.H520N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCGGGACACCCACTTCCTGCA	0.697																																							uc001jro.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1558-1560)CAC>AAC		unc-5 homolog B precursor							47.0	48.0	47.0					10																	73051452		2203	4299	6502	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73051452C>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1558C>A	10.37:g.73051452C>A	ENSP00000334329:p.His520Asn					UNC5B_uc001jrp.2_Missense_Mutation_p.H509N	p.H520N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			10	2003	+			520			Cytoplasmic (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1558C>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	3.825	-0.037025	0.07497	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45668	0.95;0.89	4.24	4.24	0.50183	.	0.277370	0.33075	N	0.005303	T	0.20373	0.0490	N	0.04508	-0.205	0.28711	N	0.903529	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.09465	-1.0673	10	0.20046	T	0.44	-31.152	12.1797	0.54206	0.1709:0.8291:0.0:0.0	.	509;520	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	N	520;509	ENSP00000334329:H520N;ENSP00000362288:H509N	ENSP00000334329:H520N	H	+	1	0	UNC5B	72721458	0.419000	0.25449	0.993000	0.49108	0.156000	0.22039	1.811000	0.38942	2.081000	0.62600	0.556000	0.70494	CAC		0.697	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		19	60	1	0	1.56452e-12	0.007413	2.4359e-12	19	60				
KCNMA1	3778	broad.mit.edu	37	10	78850213	78850214	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:78850213_78850214CC>AA	ENST00000286628.8	-	10	1277_1278	c.1278_1279GG>TT	c.(1276-1281)aaGGac>aaTTac	p.426_427KD>NY	KCNMA1_ENST00000404857.1_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000354353.5_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000286627.5_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000406533.3_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000404771.3_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000372440.1_Missense_Mutation_p.426_427KD>NY|KCNMA1_ENST00000372443.1_Missense_Mutation_p.426_427KD>NY	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	426	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.K426_D427>NY(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGCAGAAAGTCCTTCAGGAAGT	0.525																																							uc001jxn.2		NA																	2	Complex - compound substitution(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1276-1281)AAGGAC>AATTAC		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78850213_78850214CC>AA	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1278_1279delinsAA	10.37:g.78850213_78850214delinsAA	ENSP00000286628:p.K426_D427delinsNY					KCNMA1_uc001jxj.2_Missense_Mutation_p.426_427KD>NY|KCNMA1_uc001jxk.1_Missense_Mutation_p.41_42KD>NY|KCNMA1_uc009xrt.1_Missense_Mutation_p.246_247KD>NY|KCNMA1_uc001jxl.1_Missense_Mutation_p.80_81KD>NY|KCNMA1_uc001jxo.2_Missense_Mutation_p.426_427KD>NY|KCNMA1_uc001jxm.2_Missense_Mutation_p.426_427KD>NY|KCNMA1_uc001jxq.2_Missense_Mutation_p.426_427KD>NY	p.426_427KD>NY	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		10	1455_1456	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		426_427			RCK N-terminal.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	DNP	ENST00000286628.8	37	c.1278_1279GG>TT																																																																																					0.525	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		32	100	0	0	0	0.004672	0	32	100				
NRG3	10718	broad.mit.edu	37	10	84733612	84733612	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:84733612C>A	ENST00000404547.1	+	7	1353	c.1353C>A	c.(1351-1353)ccC>ccA	p.P451P	NRG3_ENST00000372142.2_Silent_p.P230P|NRG3_ENST00000372141.2_Silent_p.P451P|NRG3_ENST00000404576.2_Silent_p.P255P|NRG3_ENST00000545131.1_Silent_p.P101P|NRG3_ENST00000556918.1_Silent_p.P281P|NRG3_ENST00000537893.1_Silent_p.P101P			P56975	NRG3_HUMAN	neuregulin 3	451					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P230P(1)|p.P451P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTGTCGGCCCCCAGTCATTCC	0.507																																							uc001kco.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(5)|breast(1)	6						c.(1351-1353)CCC>CCA		neuregulin 3 isoform 1							124.0	103.0	110.0					10																	84733612		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733612C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1353C>A	10.37:g.84733612C>A						NRG3_uc010qlz.1_Silent_p.P450P|NRG3_uc001kcp.2_Silent_p.P230P|NRG3_uc001kcq.2_Silent_p.P101P|NRG3_uc001kcr.2_Silent_p.P101P	p.P451P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	7	1380	+			451			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.1353C>A	CCDS31233.1																																																																																				0.507	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		16	41	1	0	1.99824e-07	0.00499	2.59231e-07	16	41				
LRIT2	340745	broad.mit.edu	37	10	85985202	85985202	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:85985202C>A	ENST00000372113.4	-	1	80	c.75G>T	c.(73-75)ctG>ctT	p.L25L	LRIT2_ENST00000538192.1_Silent_p.L25L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	25	LRRNT.					integral component of membrane (GO:0016021)		p.L25L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCATCCTGGCAGACAGAAAG	0.468																																							uc001kcy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(73-75)CTG>CTT		leucine rich repeat containing 22 precursor							70.0	67.0	68.0					10																	85985202		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85985202C>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.75G>T	10.37:g.85985202C>A						LRIT2_uc010qmc.1_Silent_p.L25L	p.L25L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			1	83	-			25			LRRNT.		B7ZME6	Silent	SNP	ENST00000372113.4	37	c.75G>T	CCDS31234.1																																																																																				0.468	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		9	32	1	0	2.31682e-05	0.003163	2.70915e-05	9	32				
RGR	5995	broad.mit.edu	37	10	86007432	86007432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:86007432G>T	ENST00000372092.3	+	2	120	c.115G>T	c.(115-117)Gct>Tct	p.A39S	RGR_ENST00000358110.5_Silent_p.V55V|RGR_ENST00000359452.4_Silent_p.V55V			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.V55V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACCTACTGGTGCTGAGCTTGG	0.607																																					NSCLC(15;204 545 5889 6385 32445)	NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(163-165)GTG>GTT		retinal G-protein coupled receptor isoform 2							130.0	122.0	125.0					10																	86007432		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86007432G>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.115G>T	10.37:g.86007432G>T	ENSP00000361164:p.Ala39Ser					RGR_uc001kdb.1_Missense_Mutation_p.A39S|RGR_uc001kdd.1_Silent_p.V55V|RGR_uc001kde.1_Silent_p.V55V	p.V55V	NM_001012720	NP_001012738	P47804	RGR_HUMAN			2	203	+			55			Helical; Name=2; (Potential).		A6NKK7|Q96FC5	Silent	SNP	ENST00000372092.3	37	c.165G>T		.	.	.	.	.	.	.	.	.	.	G	14.83	2.653376	0.47362	.	.	ENSG00000148604	ENST00000372092	.	.	.	4.17	2.2	0.27929	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	B	0.17268	0.021	B	0.18561	0.022	T	0.39941	-0.9589	7	0.87932	D	0	.	3.4813	0.07603	0.2029:0.0:0.4466:0.3505	.	39	Q96HT6	.	S	39	.	ENSP00000361164:A39S	A	+	1	0	RGR	85997412	0.930000	0.31532	1.000000	0.80357	0.995000	0.86356	0.205000	0.17356	0.427000	0.26145	0.467000	0.42956	GCT		0.607	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		10	222	1	0	7.48243e-07	0.006214	9.3972e-07	10	222				
GRID1	2894	broad.mit.edu	37	10	87628918	87628918	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:87628918A>G	ENST00000327946.7	-	6	885	c.800T>C	c.(799-801)aTc>aCc	p.I267T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	267					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.I267T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CAGATCCAGGATCTCCGGGTC	0.507										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(799-801)ATC>ACC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						130.0	117.0	122.0					10																	87628918		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628918A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.800T>C	10.37:g.87628918A>G	ENSP00000330148:p.Ile267Thr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.I267T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	901	-			267			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.800T>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113295	0.77210	.	.	ENSG00000182771	ENST00000327946	D	0.82619	-1.63	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.90292	0.4323	10	0.87932	D	0	.	15.3729	0.74581	1.0:0.0:0.0:0.0	.	267	Q9ULK0	GRID1_HUMAN	T	267	ENSP00000330148:I267T	ENSP00000330148:I267T	I	-	2	0	GRID1	87618898	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.320000	0.96346	2.216000	0.71823	0.533000	0.62120	ATC		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		15	91	0	0	0	0.004007	0	15	91				
IFIT1B	439996	broad.mit.edu	37	10	91144107	91144107	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:91144107T>A	ENST00000371809.3	+	2	1117	c.1037T>A	c.(1036-1038)cTg>cAg	p.L346Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	346								p.L346Q(1)		endometrium(2)|large_intestine(3)|lung(8)	13						TATGTTGACCTGGCTGAAACG	0.403																																							uc001kgh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)CTG>CAG		interferon-induced protein with							69.0	66.0	67.0					10																	91144107		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91144107T>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1037T>A	10.37:g.91144107T>A	ENSP00000360874:p.Leu346Gln					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.L346Q	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	1117	+			346			TPR 6.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.1037T>A	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286978	0.59867	.	.	ENSG00000204010	ENST00000371809	T	0.49432	0.78	4.13	4.13	0.48395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.165409	0.41001	D	0.000968	T	0.66733	0.2819	M	0.75884	2.315	0.24617	N	0.993694	D	0.89917	1.0	D	0.85130	0.997	T	0.60546	-0.7242	10	0.87932	D	0	.	12.5395	0.56161	0.0:0.0:0.0:1.0	.	346	Q5T764	IFT1B_HUMAN	Q	346	ENSP00000360874:L346Q	ENSP00000360874:L346Q	L	+	2	0	IFIT1B	91134087	0.684000	0.27642	0.060000	0.19600	0.324000	0.28378	4.557000	0.60782	1.733000	0.51620	0.456000	0.33151	CTG		0.403	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		28	80	0	0	0	0.005443	0	28	80				
PLCE1	51196	broad.mit.edu	37	10	96081748	96081748	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:96081748T>A	ENST00000371380.3	+	29	6668	c.6433T>A	c.(6433-6435)Tct>Act	p.S2145T	PLCE1_ENST00000371385.3_Missense_Mutation_p.S1837T|PLCE1_ENST00000260766.3_Missense_Mutation_p.S2145T|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1837T|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2145	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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.S1837T(1)|p.S2145T(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATGATGTTTCTCCAGAGCA	0.463																																							uc001kjk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(6433-6435)TCT>ACT		phospholipase C, epsilon 1 isoform 1							121.0	123.0	122.0					10																	96081748		2041	4190	6231	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.chr10:96081748T>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.6433T>A	10.37:g.96081748T>A	ENSP00000360431:p.Ser2145Thr					PLCE1_uc010qnx.1_Missense_Mutation_p.S2129T|PLCE1_uc001kjm.2_Missense_Mutation_p.S1837T|PLCE1_uc001kjp.2_Missense_Mutation_p.S503T	p.S2145T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			30	7067	+		Colorectal(252;0.0458)	2145			Ras-associating 2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6433T>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	32	5.182857	0.94885	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.83	5.83	0.93111	Ras-association (3);	0.115689	0.64402	D	0.000010	T	0.48187	0.1486	M	0.74881	2.28	0.80722	D	1	D;D;D	0.61697	0.99;0.988;0.99	D;D;D	0.78314	0.991;0.984;0.991	T	0.50136	-0.8863	10	0.87932	D	0	.	15.8739	0.79145	0.0:0.0:0.0:1.0	.	2129;1837;2145	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	2145;2145;1837;1837	ENSP00000260766:S2145T;ENSP00000360431:S2145T;ENSP00000360438:S1837T;ENSP00000360426:S1837T	ENSP00000260766:S2145T	S	+	1	0	PLCE1	96071738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.227000	0.72691	0.528000	0.53228	TCT		0.463	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		22	64	0	0	0	0.002299	0	22	64				
TLL2	7093	broad.mit.edu	37	10	98165037	98165037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:98165037C>A	ENST00000357947.3	-	10	1444	c.1219G>T	c.(1219-1221)Gat>Tat	p.D407Y	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	407	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D407Y(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCACGTAATCATACCAGCAC	0.458																																							uc001kml.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1219-1221)GAT>TAT		tolloid-like 2 precursor							140.0	142.0	142.0					10																	98165037		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98165037C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1219G>T	10.37:g.98165037C>A	ENSP00000350630:p.Asp407Tyr					TLL2_uc009xvf.1_Missense_Mutation_p.D385Y	p.D407Y	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1445	-		Colorectal(252;0.0846)	407			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1219G>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514913	0.85389	.	.	ENSG00000095587	ENST00000357947	T	0.35605	1.3	5.31	5.31	0.75309	CUB (5);	0.000000	0.45606	D	0.000348	T	0.78978	0.4369	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	.	18.1507	0.89674	0.0:1.0:0.0:0.0	.	407	Q9Y6L7	TLL2_HUMAN	Y	407	ENSP00000350630:D407Y	ENSP00000350630:D407Y	D	-	1	0	TLL2	98155027	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.575000	0.82447	2.764000	0.94973	0.655000	0.94253	GAT		0.458	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			13	189	1	0	6.31663e-08	0.003163	8.32627e-08	13	189				
SLIT1	6585	broad.mit.edu	37	10	98820417	98820417	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:98820417C>A	ENST00000266058.4	-	9	1166	c.921G>T	c.(919-921)ctG>ctT	p.L307L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.L307L|SLIT1_ENST00000371070.4_Silent_p.L307L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	307	LRRNT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.L307L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGTCTCGGGCAGGTTGGCCG	0.647																																							uc001kmw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(919-921)CTG>CTT		slit homolog 1 precursor							71.0	64.0	66.0					10																	98820417		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98820417C>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.921G>T	10.37:g.98820417C>A						SLIT1_uc009xvh.1_Silent_p.L307L	p.L307L	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	9	1173	-		Colorectal(252;0.162)	307			LRRNT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.921G>T	CCDS7453.1																																																																																				0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		16	65	1	0	4.35082e-09	0.010504	6.01715e-09	16	65				
R3HCC1L	27291	broad.mit.edu	37	10	99968101	99968101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:99968101G>T	ENST00000298999.3	+	5	533	c.230G>T	c.(229-231)aGa>aTa	p.R77I	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R77I|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	77							nucleotide binding (GO:0000166)	p.R77I(1)									AATCCTGATAGAAAGGAGCAT	0.348																																							uc001kow.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(229-231)AGA>ATA		growth inhibition and differentiation related							71.0	78.0	76.0					10																	99968101		2203	4298	6501	SO:0001583	missense	27291						nucleotide binding	g.chr10:99968101G>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.230G>T	10.37:g.99968101G>T	ENSP00000298999:p.Arg77Ile					C10orf28_uc001kox.3_Missense_Mutation_p.R77I|C10orf28_uc001koy.3_Missense_Mutation_p.R77I|C10orf28_uc009xvx.2_Missense_Mutation_p.R77I|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.R77I	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	525	+		Colorectal(252;0.234)	77					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.230G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556888	0.27827	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.08896	3.04;3.04	5.81	0.158	0.14942	.	0.984526	0.08314	N	0.964880	T	0.10594	0.0259	L	0.39898	1.24	0.09310	N	0.999999	D;D	0.53151	0.958;0.958	P;P	0.51135	0.66;0.584	T	0.29119	-1.0022	9	.	.	.	0.1013	4.2553	0.10714	0.5267:0.1883:0.285:0.0	.	77;77	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	I	77	ENSP00000359616:R77I;ENSP00000298999:R77I	.	R	+	2	0	C10orf28	99958091	0.985000	0.35326	0.002000	0.10522	0.205000	0.24178	0.441000	0.21611	0.029000	0.15352	0.650000	0.86243	AGA		0.348	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		18	65	1	0	3.32936e-07	0.006122	4.24914e-07	18	65				
HPS1	3257	broad.mit.edu	37	10	100182214	100182214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:100182214C>A	ENST00000325103.6	-	17	1888	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	HPS1_ENST00000361490.4_Missense_Mutation_p.G552V|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	552					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.G552V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CACCATCTGCCCAGTGGTGCG	0.547									Hermansky-Pudlak syndrome																														uc010qpf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1654-1656)GGG>GTG		Hermansky-Pudlak syndrome 1 protein isoform a							112.0	111.0	111.0					10																	100182214		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100182214C>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1655G>T	10.37:g.100182214C>A	ENSP00000326649:p.Gly552Val					HPS1_uc001kpi.1_Missense_Mutation_p.G553V|HPS1_uc001kpj.1_Missense_Mutation_p.G460V|HPS1_uc001kpk.1_Missense_Mutation_p.G377V	p.G552V	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	17	1901	-		Colorectal(252;0.234)	552					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1655G>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096005	0.76870	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.31247	1.5;1.5	5.37	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68918	-0.5282	10	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.865:0.135:0.0	.	519;552;553	Q92902-2;Q8WXE5;D3DR62	.;.;.	V	552;552;519	ENSP00000326649:G552V;ENSP00000355310:G552V	ENSP00000326649:G552V	G	-	2	0	HPS1	100172204	1.000000	0.71417	0.778000	0.31720	0.720000	0.41350	7.209000	0.77916	1.230000	0.43646	0.561000	0.74099	GGG		0.547	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		53	178	1	0	6.83704e-37	0.00361	1.34418e-36	53	178				
PAX2	5076	broad.mit.edu	37	10	102541090	102541090	+	Missense_Mutation	SNP	G	G	T	rs201880460		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:102541090G>T	ENST00000428433.1	+	5	1134	c.584G>T	c.(583-585)cGc>cTc	p.R195L	PAX2_ENST00000361791.3_Missense_Mutation_p.R195L|PAX2_ENST00000355243.3_Missense_Mutation_p.R195L|PAX2_ENST00000556085.1_Missense_Mutation_p.R194L|PAX2_ENST00000370296.2_Missense_Mutation_p.R195L|PAX2_ENST00000553492.1_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	195					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.R195L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGGATTCCTCGCTCCAATGGT	0.562																																							uc001krk.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(583-585)CGC>CTC		paired box protein 2 isoform e							152.0	135.0	141.0					10																	102541090		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102541090G>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.584G>T	10.37:g.102541090G>T	ENSP00000396259:p.Arg195Leu					PAX2_uc001krl.3_Missense_Mutation_p.R195L|PAX2_uc001krm.3_Missense_Mutation_p.R195L|PAX2_uc001kro.3_Missense_Mutation_p.R195L|PAX2_uc001krn.3_Missense_Mutation_p.R195L|PAX2_uc010qps.1_Missense_Mutation_p.R194L|PAX2_uc001krp.1_Missense_Mutation_p.R199L	p.R195L	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	5	1134	+		Colorectal(252;0.234)	195					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.584G>T	CCDS53569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.961345|4.961345	0.92791|0.92791	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000553492|ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	.|D;D;D;D;D;D;D	.|0.97888	.|-4.04;-4.14;-4.14;-4.1;-4.1;-4.49;-4.59	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.721404	.|0.13930	.|N	.|0.352939	D|D	0.98501|0.98501	0.9500|0.9500	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;B;D;P;P;D;P	.|0.71674	.|0.988;0.006;0.996;0.683;0.77;0.998;0.786	.|P;B;D;B;B;D;P	.|0.79784	.|0.864;0.018;0.993;0.407;0.283;0.97;0.56	D|D	0.98231|0.98231	1.0483|1.0483	5|10	.|0.39692	.|T	.|0.17	.|.	18.6317|18.6317	0.91361|0.91361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|194;195;195;199;195;195;199	.|G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.|.;.;.;.;PAX2_HUMAN;.;.	S|L	17|87;195;195;195;195;194;195;199	.|ENSP00000359319:R195L;ENSP00000396259:R195L;ENSP00000355069:R195L;ENSP00000347385:R195L;ENSP00000452527:R194L;ENSP00000398652:R195L;ENSP00000452489:R199L	.|ENSP00000347385:R195L	A|R	+|+	1|2	0|0	PAX2|PAX2	102531080|102531080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.562	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				37	153	1	0	2.87052e-16	0.005524	4.89531e-16	37	153				
PPRC1	23082	broad.mit.edu	37	10	103899654	103899654	+	Missense_Mutation	SNP	G	G	T	rs148379078		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:103899654G>T	ENST00000278070.2	+	5	1428	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K463N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	463	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K463N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGAAGAAGAAGAGCAAGGAGC	0.602																																							uc001kum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1387-1389)AAG>AAT		peroxisome proliferator-activated receptor							60.0	58.0	59.0					10																	103899654		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899654G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1389G>T	10.37:g.103899654G>T	ENSP00000278070:p.Lys463Asn					PPRC1_uc001kun.2_Missense_Mutation_p.K343N|PPRC1_uc010qqj.1_Missense_Mutation_p.K463N|PPRC1_uc009xxa.2_RNA	p.K463N	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1428	+		Colorectal(252;0.122)	463			Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1389G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611411	0.46631	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.38401	1.14;1.14	6.03	2.08	0.27032	.	0.250225	0.38436	N	0.001682	T	0.42630	0.1211	L	0.32530	0.975	0.30300	N	0.789581	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.35871	-0.9771	10	0.35671	T	0.21	.	8.1995	0.31417	0.404:0.0:0.596:0.0	.	463;343;463	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	463	ENSP00000278070:K463N;ENSP00000399743:K463N	ENSP00000278070:K463N	K	+	3	2	PPRC1	103889644	0.782000	0.28689	0.982000	0.44146	0.964000	0.63967	-0.009000	0.12765	0.124000	0.18369	0.555000	0.69702	AAG		0.602	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		23	104	1	0	2.39556e-15	0.00278	4.0055e-15	23	104				
NFKB2	4791	broad.mit.edu	37	10	104160161	104160161	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:104160161G>T	ENST00000369966.3	+	16	1961	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	NFKB2_ENST00000189444.6_Missense_Mutation_p.G571C|NFKB2_ENST00000428099.1_Missense_Mutation_p.G571C	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	571					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.G571C(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)	GCTGCGGGCAGGCGCTGGTGC	0.627			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.(1711-1713)GGC>TGC		nuclear factor of kappa light polypeptide gene							36.0	39.0	38.0					10																	104160161		2143	4250	6393	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.chr10:104160161G>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.1711G>T	10.37:g.104160161G>T	ENSP00000358983:p.Gly571Cys					NFKB2_uc001kva.2_Missense_Mutation_p.G571C|NFKB2_uc001kvd.2_Missense_Mutation_p.G571C|NFKB2_uc009xxc.2_Missense_Mutation_p.G571C	p.G571C	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	16	1976	+		Colorectal(252;0.00957)	571			ANK 3.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1711G>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784519	0.90282	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.51071	0.72;0.72;0.72	3.95	3.03	0.35002	Ankyrin repeat-containing domain (3);	0.047005	0.85682	D	0.000000	T	0.67382	0.2887	M	0.77103	2.36	0.40952	D	0.984558	D;D	0.89917	1.0;1.0	D;D	0.77004	0.956;0.989	T	0.73288	-0.4030	10	0.66056	D	0.02	.	13.6663	0.62398	0.0:0.1563:0.8437:0.0	.	571;571	Q00653;A8K9D9	NFKB2_HUMAN;.	C	571	ENSP00000410256:G571C;ENSP00000358983:G571C;ENSP00000189444:G571C	ENSP00000189444:G571C	G	+	1	0	NFKB2	104150151	0.895000	0.30542	0.525000	0.27900	0.583000	0.36354	2.796000	0.47869	1.012000	0.39366	0.561000	0.74099	GGC		0.627	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			18	55	1	0	1.56452e-12	0.007413	2.4359e-12	18	55				
PDCD11	22984	broad.mit.edu	37	10	105162908	105162908	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:105162908G>T	ENST00000369797.3	+	4	362	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	90	S1 motif 1. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.V90M(1)|p.V90L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTGGGTTGCGTGAAAGAGGT	0.453																																							uc001kwy.1		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(268-270)GTG>TTG		programmed cell death 11							242.0	233.0	236.0					10																	105162908		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105162908G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.268G>T	10.37:g.105162908G>T	ENSP00000358812:p.Val90Leu						p.V90L	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	355	+		Colorectal(252;0.0747)|Breast(234;0.128)	90			S1 motif 1.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.268G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452687	0.63290	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.38887	1.11	5.26	5.26	0.73747	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.060647	0.64402	D	0.000003	T	0.66607	0.2806	M	0.88640	2.97	0.58432	D	0.999998	D	0.76494	0.999	D	0.63283	0.913	T	0.73353	-0.4009	10	0.72032	D	0.01	-19.2432	13.2243	0.59907	0.0793:0.0:0.9207:0.0	.	90	Q14690	RRP5_HUMAN	L	90	ENSP00000358812:V90L	ENSP00000358812:V90L	V	+	1	0	PDCD11	105152898	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.969000	0.70422	2.462000	0.83206	0.455000	0.32223	GTG		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			79	251	1	0	8.78091e-33	0.00361	1.70759e-32	79	251				
CFAP58	159686	broad.mit.edu	37	10	106118310	106118310	+	Missense_Mutation	SNP	A	A	T	rs139964001		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:106118310A>T	ENST00000369704.3	+	2	355	c.221A>T	c.(220-222)aAt>aTt	p.N74I	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		74						extracellular space (GO:0005615)		p.N74I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTGTAGTGAATTCTGCGAAG	0.433																																							uc001kyh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(220-222)AAT>ATT		coiled-coil domain containing 147							87.0	74.0	79.0					10																	106118310		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106118310A>T																												ENST00000369704.3:c.221A>T	10.37:g.106118310A>T	ENSP00000358718:p.Asn74Ile						p.N74I	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	2	355	+		Colorectal(252;0.103)|Breast(234;0.122)	74					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.221A>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307577	0.60305	.	.	ENSG00000120051	ENST00000369704	T	0.37752	1.18	5.46	5.46	0.80206	.	0.141390	0.64402	D	0.000007	T	0.66982	0.2845	M	0.91459	3.21	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.72087	-0.4396	10	0.37606	T	0.19	-22.7578	15.8279	0.78727	1.0:0.0:0.0:0.0	.	74	Q5T655	CC147_HUMAN	I	74	ENSP00000358718:N74I	ENSP00000358718:N74I	N	+	2	0	CCDC147	106108300	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	5.945000	0.70226	2.192000	0.70111	0.533000	0.62120	AAT		0.433	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			21	66	0	0	0	0.001882	0	21	66				
SORCS1	114815	broad.mit.edu	37	10	108447959	108447959	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:108447959G>C	ENST00000263054.6	-	10	1558	c.1551C>G	c.(1549-1551)caC>caG	p.H517Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.H52Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.H517Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	517					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.H517Q(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)		CCAGCAAGCAGTGCACGGGGT	0.493																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1549-1551)CAC>CAG		SORCS receptor 1 isoform a							102.0	93.0	96.0					10																	108447959		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108447959G>C	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.1551C>G	10.37:g.108447959G>C	ENSP00000263054:p.His517Gln					SORCS1_uc001kyl.2_Missense_Mutation_p.H517Q|SORCS1_uc009xxs.2_Missense_Mutation_p.H517Q|SORCS1_uc001kyn.1_Missense_Mutation_p.H517Q|SORCS1_uc001kyo.2_Missense_Mutation_p.H517Q	p.H517Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1559	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	517			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1551C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694411	0.68386	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.22336	1.96;1.96;1.96	6.04	2.78	0.32641	VPS10 (1);	0.164918	0.53938	N	0.000042	T	0.28433	0.0703	L	0.39898	1.24	0.44012	D	0.996727	P;D;D;P;D	0.53619	0.935;0.961;0.961;0.935;0.961	P;P;P;P;P	0.59889	0.737;0.865;0.865;0.737;0.865	T	0.01269	-1.1400	9	.	.	.	-18.9488	9.2501	0.37549	0.1886:0.1174:0.694:0.0	.	517;517;517;517;517	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	52;517;517	ENSP00000358712:H52Q;ENSP00000263054:H517Q;ENSP00000345964:H517Q	.	H	-	3	2	SORCS1	108437949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.579000	0.36536	0.892000	0.36259	0.563000	0.77884	CAC		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		27	109	0	0	0	0.007291	0	27	109				
PLEKHS1	79949	broad.mit.edu	37	10	115526214	115526214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:115526214G>A	ENST00000369310.3	+	2	617	c.55G>A	c.(55-57)Gat>Aat	p.D19N	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.D25N	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	19	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.D25N(1)									CTGCAAACAAGATTACTTTAT	0.348																																							uc001lat.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(55-57)GAT>AAT		hypothetical protein LOC79949							102.0	103.0	103.0					10																	115526214		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115526214G>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.55G>A	10.37:g.115526214G>A	ENSP00000358316:p.Asp19Asn					C10orf81_uc001lar.1_Missense_Mutation_p.D25N|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron	p.D19N	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	2	617	+		Colorectal(252;0.175)	19			PH.		A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.55G>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728483	0.69074	.	.	ENSG00000148735	ENST00000361048;ENST00000369310	T;T	0.35973	1.28;1.28	5.45	5.45	0.79879	.	0.130617	0.50627	D	0.000112	T	0.58395	0.2119	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.961	T	0.60203	-0.7309	10	0.72032	D	0.01	-35.5207	17.0822	0.86602	0.0:0.0:1.0:0.0	.	19;25	Q5SXH7-5;Q5SXH7-4	.;.	N	25;19	ENSP00000354332:D25N;ENSP00000358316:D19N	ENSP00000354332:D25N	D	+	1	0	C10orf81	115516204	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.087000	0.57671	2.558000	0.86282	0.655000	0.94253	GAT		0.348	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		9	99	0	0	0	0.008291	0	9	99				
PNLIPRP3	119548	broad.mit.edu	37	10	118196348	118196348	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:118196348T>C	ENST00000369230.3	+	2	321	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	59					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.Y59H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCCTGCTCTACACTATACA	0.408																																							uc001lcl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)TAC>CAC		pancreatic lipase-related protein 3 precursor							171.0	157.0	161.0					10																	118196348		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196348T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.175T>C	10.37:g.118196348T>C	ENSP00000358232:p.Tyr59His						p.Y59H	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	276	+			59						Missense_Mutation	SNP	ENST00000369230.3	37	c.175T>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.465578	0.63513	.	.	ENSG00000203837	ENST00000369230	D	0.92048	-2.96	4.56	4.56	0.56223	Lipase, N-terminal (1);	0.388224	0.21185	N	0.078745	D	0.92466	0.7608	L	0.54965	1.715	0.27771	N	0.943505	P	0.44986	0.847	P	0.50860	0.652	D	0.88308	0.2954	10	0.62326	D	0.03	.	13.5778	0.61885	0.0:0.0:0.0:1.0	.	59	Q17RR3	LIPR3_HUMAN	H	59	ENSP00000358232:Y59H	ENSP00000358232:Y59H	Y	+	1	0	PNLIPRP3	118186338	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.307000	0.65762	1.986000	0.57962	0.528000	0.53228	TAC		0.408	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		17	119	0	0	0	0.007413	0	17	119				
PDZD8	118987	broad.mit.edu	37	10	119043130	119043130	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:119043130G>A	ENST00000334464.5	-	5	3353	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1038					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.F1038F(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATCCAACATGAACTCTAGTT	0.398																																							uc001lde.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3112-3114)TTC>TTT		PDZ domain containing 8							115.0	116.0	116.0					10																	119043130		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043130G>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.3114C>T	10.37:g.119043130G>A							p.F1038F	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3313	-		Colorectal(252;0.19)	1038			Potential.		Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.3114C>T	CCDS7600.1																																																																																				0.398	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		28	137	0	0	0	0.009535	0	28	137				
C10orf120	399814	broad.mit.edu	37	10	124457441	124457441	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:124457441C>A	ENST00000329446.4	-	3	847	c.816G>T	c.(814-816)ccG>ccT	p.P272P		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	272								p.P272P(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGGACCGTTCCGGTTTCTTTG	0.378																																							uc001lgn.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(814-816)CCG>CCT		hypothetical protein LOC399814							164.0	160.0	161.0					10																	124457441		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457441C>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.816G>T	10.37:g.124457441C>A							p.P272P	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	848	-		all_neural(114;0.169)|Glioma(114;0.222)	272					B2RU17	Silent	SNP	ENST00000329446.4	37	c.816G>T	CCDS31302.1																																																																																				0.378	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		17	222	1	0	2.35188e-11	0.006122	3.54132e-11	17	222				
OAT	4942	broad.mit.edu	37	10	126091575	126091575	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:126091575C>T	ENST00000368845.5	-	7	913	c.821G>A	c.(820-822)aGa>aAa	p.R274K	OAT_ENST00000539214.1_Missense_Mutation_p.R136K|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	274					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)	p.R274K(1)		endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	AGCCAGCCATCTACCAGTTCT	0.438																																							uc001lhp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(820-822)AGA>AAA		ornithine aminotransferase precursor	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						104.0	114.0	111.0					10																	126091575		2203	4300	6503	SO:0001583	missense	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126091575C>T	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.821G>A	10.37:g.126091575C>T	ENSP00000357838:p.Arg274Lys					OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Missense_Mutation_p.R136K	p.R274K	NM_000274	NP_000265	P04181	OAT_HUMAN			7	928	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	274					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	c.821G>A	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	2.736	-0.263340	0.05754	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.84442	-1.85;-1.85	4.9	3.04	0.35103	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.140732	0.64402	N	0.000010	T	0.52075	0.1712	N	0.00738	-1.235	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.52616	-0.8552	10	0.02654	T	1	-1.5454	6.7819	0.23650	0.0:0.5912:0.0:0.4088	.	274	P04181	OAT_HUMAN	K	136;274	ENSP00000439042:R136K;ENSP00000357838:R274K	ENSP00000357838:R274K	R	-	2	0	OAT	126081565	0.088000	0.21588	0.016000	0.15963	0.970000	0.65996	2.321000	0.43805	0.753000	0.32945	0.655000	0.94253	AGA		0.438	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		10	214	0	0	0	0.001368	0	10	214				
MKI67	4288	broad.mit.edu	37	10	129901357	129901357	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:129901357T>A	ENST00000368654.3	-	13	9122	c.8747A>T	c.(8746-8748)gAa>gTa	p.E2916V	MKI67_ENST00000368653.3_Missense_Mutation_p.E2556V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2916	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E2916V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCAGATCTTCCAGGGGTTG	0.512																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8746-8748)GAA>GTA		antigen identified by monoclonal antibody Ki-67							152.0	154.0	153.0					10																	129901357		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901357T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8747A>T	10.37:g.129901357T>A	ENSP00000357643:p.Glu2916Val					MKI67_uc001lkf.2_Missense_Mutation_p.E2556V|MKI67_uc009yav.1_Missense_Mutation_p.E2491V|MKI67_uc009yaw.1_Missense_Mutation_p.E2066V	p.E2916V	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8942	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2916			16 X 122 AA approximate repeats.|16.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8747A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811206	0.50527	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04603	3.59;3.59	5.23	2.88	0.33553	.	.	.	.	.	T	0.16599	0.0399	M	0.75615	2.305	0.09310	N	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.77557	0.99;0.988;0.989	T	0.08330	-1.0727	9	0.52906	T	0.07	.	5.6237	0.17470	0.0:0.0888:0.1724:0.7388	.	2915;2556;2916	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2916;2556;2915	ENSP00000357643:E2916V;ENSP00000357642:E2556V	ENSP00000357642:E2556V	E	-	2	0	MKI67	129791347	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.550000	0.23345	0.400000	0.25396	-0.258000	0.10820	GAA		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		20	248	0	0	0	0.001882	0	20	248				
EBF3	253738	broad.mit.edu	37	10	131755543	131755543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:131755543G>C	ENST00000355311.5	-	6	605	c.533C>G	c.(532-534)tCa>tGa	p.S178*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.S178*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	178					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S178*(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TACAGGGTCTGAGGGCGTTTC	0.423																																							uc001lki.1		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(532-534)TCA>TGA		early B-cell factor 3							158.0	146.0	150.0					10																	131755543		2203	4300	6503	SO:0001587	stop_gained	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131755543G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.533C>G	10.37:g.131755543G>C	ENSP00000347463:p.Ser178*						p.S178*	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	592	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	178					A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	37	c.533C>G		.	.	.	.	.	.	.	.	.	.	G	37	6.343523	0.97489	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.6068	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000347463:S178X	S	-	2	0	EBF3	131645533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.802000	0.99131	2.824000	0.97209	0.655000	0.94253	TCA		0.423	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		48	179	0	0	0	0.00361	0	48	179				
ADAM8	101	broad.mit.edu	37	10	135080912	135080912	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:135080912T>G	ENST00000445355.3	-	21	2313	c.2263A>C	c.(2263-2265)Act>Cct	p.T755P	ADAM8_ENST00000485491.2_Missense_Mutation_p.T690P|ADAM8_ENST00000415217.3_Missense_Mutation_p.H699P	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	755					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.T755P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTGGACACAGTGACCGGAGGC	0.662																																							uc010qva.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(2068-2070)ACT>CCT		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							94.0	75.0	82.0					10																	135080912		2197	4298	6495	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135080912T>G	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.2263A>C	10.37:g.135080912T>G	ENSP00000453302:p.Thr755Pro					ADAM8_uc010quz.1_Missense_Mutation_p.T755P|ADAM8_uc009ybi.2_Missense_Mutation_p.H699P	p.T690P			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	19	2119	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	690					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.2068A>C	CCDS31319.2																																																																																				0.662	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		4	35	0	0	0	0.001168	0	4	35				
LMNTD2	256329	broad.mit.edu	37	11	557581	557581	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:557581G>A	ENST00000329451.3	-	6	677	c.615C>T	c.(613-615)ccC>ccT	p.P205P	RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000431809.1_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		205								p.P205P(1)		NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCCCGGTGGGGGCCTGAA	0.637																																							uc001lpx.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(613-615)CCC>CCT		hypothetical protein LOC256329							60.0	59.0	59.0					11																	557581		2202	4300	6502	SO:0001819	synonymous_variant	256329							g.chr11:557581G>A																												ENST00000329451.3:c.615C>T	11.37:g.557581G>A						uc001lpy.2_5'Flank|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank	p.P205P	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	678	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	205						Silent	SNP	ENST00000329451.3	37	c.615C>T	CCDS7701.1																																																																																				0.637	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			10	65	0	0	0	0.008291	0	10	65				
PHRF1	57661	broad.mit.edu	37	11	607913	607913	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:607913C>G	ENST00000264555.5	+	14	2585	c.2457C>G	c.(2455-2457)atC>atG	p.I819M	PHRF1_ENST00000533464.1_Missense_Mutation_p.I815M|PHRF1_ENST00000413872.2_Missense_Mutation_p.I817M|PHRF1_ENST00000416188.2_Missense_Mutation_p.I818M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	819					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.I819M(1)|p.I824M(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTCTCCATCAAGAAGACGA	0.642																																							uc001lqe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2455-2457)ATC>ATG		PHD and ring finger domains 1							64.0	73.0	70.0					11																	607913		2018	4161	6179	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607913C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2457C>G	11.37:g.607913C>G	ENSP00000264555:p.Ile819Met					PHRF1_uc010qwc.1_Missense_Mutation_p.I818M|PHRF1_uc010qwd.1_Missense_Mutation_p.I817M|PHRF1_uc010qwe.1_Missense_Mutation_p.I815M|PHRF1_uc009ybz.1_Missense_Mutation_p.I609M|PHRF1_uc009yca.1_RNA	p.I819M	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2588	+			819					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2457C>G		.	.	.	.	.	.	.	.	.	.	C	13.35	2.210310	0.39003	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80214	-1.35;-1.34;-1.35;-1.35	4.55	3.63	0.41609	.	0.343559	0.21094	N	0.080280	T	0.76630	0.4014	L	0.46157	1.445	0.28832	N	0.897073	P;P;P;P	0.44380	0.744;0.834;0.834;0.744	B;P;P;B	0.46208	0.31;0.507;0.507;0.31	T	0.72040	-0.4410	10	0.66056	D	0.02	-17.6748	7.4746	0.27368	0.3799:0.5402:0.0:0.0799	.	815;817;818;819	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	M	819;817;818;815	ENSP00000264555:I819M;ENSP00000388589:I817M;ENSP00000410626:I818M;ENSP00000431870:I815M	ENSP00000264555:I819M	I	+	3	3	PHRF1	597913	0.001000	0.12720	0.998000	0.56505	0.516000	0.34256	-0.481000	0.06552	1.120000	0.41904	0.555000	0.69702	ATC		0.642	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		23	133	0	0	0	0.004656	0	23	133				
TMEM80	283232	broad.mit.edu	37	11	702964	702964	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:702964A>G	ENST00000608174.1	+	5	458	c.321A>G	c.(319-321)acA>acG	p.T107T	TMEM80_ENST00000397510.3_Silent_p.T155T|TMEM80_ENST00000397512.3_Silent_p.T99T	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	107						integral component of membrane (GO:0016021)		p.T62T(1)|p.T107T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAACCTGACAGAGGCTGAGA	0.697																																							uc001lqr.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(319-321)ACA>ACG		transmembrane protein 80 isoform 2							26.0	31.0	30.0					11																	702964		2191	4279	6470	SO:0001819	synonymous_variant	283232					integral to membrane		g.chr11:702964A>G		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.321A>G	11.37:g.702964A>G						TMEM80_uc001lqs.2_Silent_p.T99T|TMEM80_uc010qwi.1_Silent_p.T107T	p.T107T	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	458	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	107					A8MQ01|A8MXY8|B7WNU5	Silent	SNP	ENST00000608174.1	37	c.321A>G	CCDS41587.1																																																																																				0.697	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940		16	50	0	0	0	0.00278	0	16	50				
SLC25A22	79751	broad.mit.edu	37	11	799386	799386	+	5'Flank	SNP	C	C	A	rs373561275	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:799386C>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R885L|PIDD_ENST00000411829.2_Missense_Mutation_p.R868L	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.R885L(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCATGCGTCGGATGCTGTC	0.682																																					Colon(93;848 1468 3270 23355 49636)		uc001lro.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2653-2655)CGA>CTA		leucine rich repeat and death domain containing							58.0	61.0	60.0					11																	799386		2203	4297	6500	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799386C>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799386C>A	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R868L|LRDD_uc001lrl.1_Missense_Mutation_p.R728L|LRDD_uc001lrm.1_Missense_Mutation_p.R572L|LRDD_uc001lrn.1_Missense_Mutation_p.R728L|LRDD_uc001lrp.1_3'UTR	p.R885L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2796	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	885					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	c.2654G>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	7.733	0.699579	0.15106	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.93811	-3.29;-3.29	5.04	-4.14	0.03892	DEATH-like (1);	0.315357	0.28790	N	0.014123	T	0.81978	0.4937	N	0.14661	0.345	0.20196	N	0.999921	B;B;B	0.15719	0.002;0.001;0.014	B;B;B	0.16722	0.004;0.002;0.016	T	0.68131	-0.5490	10	0.44086	T	0.13	.	5.979	0.19397	0.3083:0.4966:0.0:0.195	.	885;728;868	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	L	868;885	ENSP00000416801:R868L;ENSP00000337797:R885L	ENSP00000337797:R885L	R	-	2	0	PIDD	789386	0.002000	0.14202	0.009000	0.14445	0.008000	0.06430	-0.092000	0.11129	-1.202000	0.02655	-0.480000	0.04831	CGA		0.682	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			12	85	1	0	2.31682e-05	0.003163	2.70915e-05	12	85				
ART1	417	broad.mit.edu	37	11	3682645	3682645	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:3682645T>A	ENST00000250693.1	+	4	987		c.e4+2		Y_RNA_ENST00000364409.1_RNA	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1						innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.?(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		ATAATTCAGGTAAGGGCTGCA	0.468																																							uc001lye.1		NA																	1	Unknown(1)		lung(1)		0						c.e4+2		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						82.0	81.0	82.0					11																	3682645		2201	4298	6499	SO:0001630	splice_region_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3682645T>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.886+2T>A	11.37:g.3682645T>A							p.A296_splice	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	4	987	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)						Q6NTD2|Q96KT9	Splice_Site	SNP	ENST00000250693.1	37	c.886_splice	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231649	0.58777	.	.	ENSG00000129744	ENST00000250693	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2011	0.54326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ART1	3639221	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	2.542000	0.45744	2.209000	0.71365	0.533000	0.62120	.		0.468	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314	Intron	9	95	0	0	0	0.001368	0	9	95				
OR52K1	390036	broad.mit.edu	37	11	4510987	4510987	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4510987C>A	ENST00000307632.3	+	1	879	c.857C>A	c.(856-858)cCa>cAa	p.P286Q		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P286Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCTTTTCCCACCCATGGTC	0.463																																							uc001lza.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CCA>CAA		olfactory receptor, family 52, subfamily K,							169.0	153.0	158.0					11																	4510987		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510987C>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.857C>A	11.37:g.4510987C>A	ENSP00000302422:p.Pro286Gln						p.P286Q	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	857	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	286			Helical; Name=7; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.857C>A	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566457	0.65651	.	.	ENSG00000196778	ENST00000307632	T	0.37752	1.18	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000259	T	0.68924	0.3054	M	0.93328	3.405	0.42695	D	0.993598	D	0.64830	0.994	D	0.69824	0.966	T	0.79142	-0.1925	10	0.87932	D	0	.	16.3005	0.82807	0.0:1.0:0.0:0.0	.	286	Q8NGK4	O52K1_HUMAN	Q	286	ENSP00000302422:P286Q	ENSP00000302422:P286Q	P	+	2	0	OR52K1	4467563	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	5.721000	0.68477	2.487000	0.83934	0.411000	0.27672	CCA		0.463	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		38	236	1	0	7.04047e-22	0.005524	1.2889e-21	38	236				
OR51S1	119692	broad.mit.edu	37	11	4869790	4869790	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4869790C>A	ENST00000322101.2	-	1	724	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D217Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGGGTCCAAACCCATG	0.532																																							uc010qyo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(649-651)GAC>TAC		olfactory receptor, family 51, subfamily S,							77.0	81.0	80.0					11																	4869790		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869790C>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.649G>T	11.37:g.4869790C>A	ENSP00000322754:p.Asp217Tyr						p.D217Y	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	649	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	217			Helical; Name=5; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.649G>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340047	0.60963	.	.	ENSG00000176922	ENST00000322101	T	0.37411	1.2	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000172	T	0.71091	0.3299	H	0.94542	3.55	0.25605	N	0.986554	D	0.89917	1.0	D	0.77004	0.989	T	0.70149	-0.4951	10	0.87932	D	0	-14.3816	17.5702	0.87933	0.0:1.0:0.0:0.0	.	217	Q8NGJ8	O51S1_HUMAN	Y	217	ENSP00000322754:D217Y	ENSP00000322754:D217Y	D	-	1	0	OR51S1	4826366	0.000000	0.05858	0.990000	0.47175	0.748000	0.42578	0.713000	0.25794	2.729000	0.93468	0.655000	0.94253	GAC		0.532	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		23	142	1	0	2.98393e-07	0.00278	3.83565e-07	23	142				
OR51A7	119687	broad.mit.edu	37	11	4928835	4928835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4928835C>A	ENST00000359350.4	+	1	236	c.236C>A	c.(235-237)cCt>cAt	p.P79H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCCCTTCCTACCATGTTG	0.458																																							uc010qyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)CCT>CAT		olfactory receptor, family 51, subfamily A,							155.0	134.0	141.0					11																	4928835		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928835C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.236C>A	11.37:g.4928835C>A	ENSP00000352305:p.Pro79His						p.P79H	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	236	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	79			Extracellular (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.236C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120489	0.77323	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.25749	1.78	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000250	T	0.63283	0.2498	H	0.95004	3.61	0.46167	D	0.998907	D	0.89917	1.0	D	0.97110	1.0	T	0.73553	-0.3946	10	0.56958	D	0.05	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	79	Q8NH64	O51A7_HUMAN	H	79;79;68	ENSP00000352305:P79H	ENSP00000352305:P79H	P	+	2	0	OR51A7	4885411	0.992000	0.36948	0.992000	0.48379	0.843000	0.47879	5.293000	0.65680	2.596000	0.87737	0.655000	0.94253	CCT		0.458	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		17	124	1	0	9.7654e-05	0.007413	0.000111346	17	124				
MMP26	56547	broad.mit.edu	37	11	5013214	5013214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5013214G>A	ENST00000380390.1	+	6	832	c.616G>A	c.(616-618)Gca>Aca	p.A206T	MMP26_ENST00000300762.1_Missense_Mutation_p.A206T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	206					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A206T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTTCCTGGTTGCAACTCATGA	0.393																																							uc001lzv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GCA>ACA		matrix metalloproteinase 26 preproprotein							57.0	55.0	55.0					11																	5013214		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013214G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.616G>A	11.37:g.5013214G>A	ENSP00000369753:p.Ala206Thr						p.A206T	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	634	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	206					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.616G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593166	0.66219	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.57595	0.39;0.39	3.79	2.85	0.33270	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.42682	D	0.000665	T	0.64438	0.2598	L	0.60012	1.86	0.34589	D	0.71534	D	0.76494	0.999	D	0.68353	0.957	T	0.73940	-0.3824	10	0.87932	D	0	-5.8575	10.3819	0.44117	0.0:0.0:0.8036:0.1963	.	206	Q9NRE1	MMP26_HUMAN	T	206	ENSP00000369753:A206T;ENSP00000300762:A206T	ENSP00000300762:A206T	A	+	1	0	MMP26	4969790	1.000000	0.71417	0.939000	0.37840	0.506000	0.33950	5.122000	0.64697	0.765000	0.33221	0.561000	0.74099	GCA		0.393	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		6	47	0	0	0	0.001984	0	6	47				
TRIM34	53840	broad.mit.edu	37	11	5653697	5653697	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5653697G>A	ENST00000514226.1	+	2	473	c.136G>A	c.(136-138)Gca>Aca	p.A46T	TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A400T|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A46T|TRIM34_ENST00000429814.2_Missense_Mutation_p.A46T	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	46					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A46T(1)|p.A400T(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACAAGGAGGCAGTGACCAG	0.527																																							uc001mbf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1198-1200)GCA>ACA		tripartite motif-containing 6 and tripartite							146.0	130.0	136.0					11																	5653697		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5653697G>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.136G>A	11.37:g.5653697G>A	ENSP00000422947:p.Ala46Thr					HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.A46T|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Missense_Mutation_p.A46T|TRIM34_uc001mbj.2_Missense_Mutation_p.A46T	p.A400T	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	8	1442	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	400					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1198G>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601284	0.28534	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.26	-6.52	0.01872	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.279420	0.06010	N	0.649279	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20261	0.002;0.0;0.043	B;B;B	0.17098	0.005;0.003;0.017	T	0.41484	-0.9506	10	0.46703	T	0.11	.	5.5053	0.16850	0.2651:0.0:0.1542:0.5807	.	46;46;400	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	T	400;46;46;46;400	ENSP00000422947:A46T;ENSP00000402595:A46T;ENSP00000395982:A46T;ENSP00000346916:A400T	ENSP00000402595:A46T	A	+	1	0	TRIM34;TRIM6-TRIM34	5610273	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.749000	0.00793	-2.128000	0.00818	0.555000	0.69702	GCA		0.527	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		11	87	0	0	0	0.000978	0	11	87				
OR52N5	390075	broad.mit.edu	37	11	5799384	5799384	+	Missense_Mutation	SNP	C	C	T	rs143269628		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5799384C>T	ENST00000317093.2	-	1	513	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G161S(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGCAATACACCCCTCAGGAAG	0.483																																							uc010qzn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(481-483)GGT>AGT		olfactory receptor, family 52, subfamily N,		C	SER/GLY	0,4250		0,0,2125	149.0	121.0	131.0		481	2.8	0.7	11	dbSNP_134	131	1,8191		0,1,4095	no	missense	OR52N5	NM_001001922.2	56	0,1,6220	TT,TC,CC		0.0122,0.0,0.0080	benign	161/325	5799384	1,12441	2125	4096	6221	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799384C>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.481G>A	11.37:g.5799384C>T	ENSP00000322866:p.Gly161Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.G161S	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	481	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	161			Helical; Name=4; (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.481G>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	2.497	-0.316073	0.05422	0.0	1.22E-4	ENSG00000181009	ENST00000317093	T	0.32988	1.43	3.7	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008134	T	0.16300	0.0392	N	0.17082	0.46	0.09310	N	1	B	0.22604	0.072	B	0.29267	0.1	T	0.30387	-0.9980	10	0.06236	T	0.91	.	10.0681	0.42317	0.0:0.8973:0.0:0.1026	.	161	Q8NH56	O52N5_HUMAN	S	161	ENSP00000322866:G161S	ENSP00000322866:G161S	G	-	1	0	OR52N5	5755960	0.000000	0.05858	0.718000	0.30602	0.038000	0.13279	-1.670000	0.01956	0.888000	0.36160	0.494000	0.49563	GGT		0.483	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		7	42	0	0	0	0.001984	0	7	42				
OR52E4	390081	broad.mit.edu	37	11	5906024	5906024	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5906024C>A	ENST00000316987.2	+	1	524	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L168M(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCTGCGTCTGCCATTCTG	0.458																																							uc010qzs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(502-504)CTG>ATG		olfactory receptor, family 52, subfamily E,							163.0	147.0	153.0					11																	5906024		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906024C>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.502C>A	11.37:g.5906024C>A	ENSP00000321426:p.Leu168Met					TRIM5_uc001mbq.1_Intron	p.L168M	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	502	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	168			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.502C>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321510	0.41096	.	.	ENSG00000180974	ENST00000316987	T	0.00293	8.26	5.15	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39083	N	0.001463	T	0.00637	0.0021	M	0.89840	3.065	0.09310	N	1	P	0.51147	0.942	P	0.62435	0.902	T	0.25847	-1.0120	10	0.59425	D	0.04	.	9.5916	0.39550	0.0:0.7077:0.0:0.2923	.	168	Q8NGH9	O52E4_HUMAN	M	168	ENSP00000321426:L168M	ENSP00000321426:L168M	L	+	1	2	OR52E4	5862600	0.000000	0.05858	0.072000	0.20136	0.912000	0.54170	-0.628000	0.05515	0.056000	0.16144	0.643000	0.83706	CTG		0.458	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		18	149	1	0	2.94398e-08	0.007413	3.93064e-08	18	149				
OR56A4	120793	broad.mit.edu	37	11	6023680	6023680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6023680G>C	ENST00000330728.4	-	1	744	c.699C>G	c.(697-699)atC>atG	p.I233M		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I233M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		GGTTACTGCAGATGCAGTTCT	0.463																																							uc010qzv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(697-699)ATC>ATG		olfactory receptor, family 56, subfamily A,							61.0	58.0	59.0					11																	6023680		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023680G>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.699C>G	11.37:g.6023680G>C	ENSP00000328215:p.Ile233Met						p.I233M	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	699	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	181			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.699C>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282643	0.40394	.	.	ENSG00000183389	ENST00000330728	T	0.00158	8.65	3.63	0.289	0.15723	GPCR, rhodopsin-like superfamily (1);	0.414022	0.16439	U	0.214386	T	0.00328	0.0010	M	0.70595	2.14	0.28444	N	0.916672	D	0.62365	0.991	D	0.69479	0.964	T	0.48647	-0.9017	10	0.87932	D	0	.	3.9613	0.09412	0.2385:0.0:0.5791:0.1824	.	181	Q8NGH8	O56A4_HUMAN	M	233	ENSP00000328215:I233M	ENSP00000328215:I233M	I	-	3	3	OR56A4	5980256	0.998000	0.40836	0.998000	0.56505	0.925000	0.55904	1.672000	0.37523	-0.057000	0.13199	0.655000	0.94253	ATC		0.463	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		5	37	0	0	0	0.001168	0	5	37				
CCKBR	887	broad.mit.edu	37	11	6292387	6292387	+	Missense_Mutation	SNP	C	C	T	rs201374522		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6292387C>T	ENST00000334619.2	+	5	1151	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	CCKBR_ENST00000532715.1_Missense_Mutation_p.P236S|CCKBR_ENST00000525462.1_Missense_Mutation_p.P389S|CCKBR_ENST00000532396.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	320					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.P389S(1)|p.P320S(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGGCTCCCGGCCCACCCAGGC	0.607																																							uc001mcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(958-960)CCC>TCC		cholecystokinin B receptor	Pentagastrin(DB00183)						82.0	75.0	77.0					11																	6292387		2199	4294	6493	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292387C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.958C>T	11.37:g.6292387C>T	ENSP00000335544:p.Pro320Ser					CCKBR_uc001mcq.2_Missense_Mutation_p.P248S|CCKBR_uc001mcr.2_Missense_Mutation_p.P320S|CCKBR_uc001mcs.2_Missense_Mutation_p.P389S|CCKBR_uc001mct.1_RNA	p.P320S	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	5	1151	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	320			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.958C>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	7.993	0.753669	0.15778	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.70631	-0.5;-0.5;1.71	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.294804	0.34603	N	0.003827	T	0.43743	0.1261	N	0.02275	-0.615	0.49483	D	0.999795	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.20577	0.03;0.001;0.003	T	0.48896	-0.8994	10	0.05436	T	0.98	.	16.7372	0.85449	0.0:1.0:0.0:0.0	.	389;254;320	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	S	320;236;389	ENSP00000335544:P320S;ENSP00000432079:P236S;ENSP00000435534:P389S	ENSP00000335544:P320S	P	+	1	0	CCKBR	6248963	0.997000	0.39634	0.783000	0.31826	0.320000	0.28249	1.775000	0.38584	2.517000	0.84864	0.563000	0.77884	CCC		0.607	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		7	73	0	0	0	0.004482	0	7	73				
DCHS1	8642	broad.mit.edu	37	11	6662548	6662548	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6662548C>A	ENST00000299441.3	-	2	708	c.297G>T	c.(295-297)ggG>ggT	p.G99G		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G99G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACGGACGACCCCACTGTGTT	0.627																																							uc001mem.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(295-297)GGG>GGT		dachsous 1 precursor							65.0	57.0	60.0					11																	6662548		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662548C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.297G>T	11.37:g.6662548C>A							p.G99G	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	707	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	99			Cadherin 1.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.297G>T	CCDS7771.1																																																																																				0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	63	1	0	2.27111e-07	0.001368	2.92893e-07	11	63				
OR10A4	283297	broad.mit.edu	37	11	6898191	6898191	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6898191T>G	ENST00000379829.2	+	1	336	c.313T>G	c.(313-315)Ttc>Gtc	p.F105V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	105					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105V(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGTATTTCTTCTTCTTTTT	0.517																																							uc010rat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)TTC>GTC		olfactory receptor, family 10, subfamily A,							97.0	92.0	94.0					11																	6898191		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898191T>G	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.313T>G	11.37:g.6898191T>G	ENSP00000369157:p.Phe105Val						p.F105V	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	313	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	105			Helical; Name=3; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.313T>G	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	15.30	2.793768	0.50102	.	.	ENSG00000170782	ENST00000379829	T	0.02258	4.37	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000251	T	0.03827	0.0108	L	0.55990	1.75	0.32076	N	0.593847	P	0.37548	0.599	B	0.38880	0.284	T	0.06899	-1.0801	10	0.46703	T	0.11	.	12.6218	0.56607	0.0:0.0:0.0:1.0	.	105	Q9H209	O10A4_HUMAN	V	105	ENSP00000369157:F105V	ENSP00000369157:F105V	F	+	1	0	OR10A4	6854767	0.053000	0.20554	1.000000	0.80357	0.940000	0.58332	0.542000	0.23222	2.137000	0.66172	0.533000	0.62120	TTC		0.517	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		11	146	0	0	0	0.001368	0	11	146				
OR2D3	120775	broad.mit.edu	37	11	6942258	6942258	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6942258C>A	ENST00000317834.3	+	1	54	c.26C>A	c.(25-27)aCa>aAa	p.T9K		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T9K(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGTGCCAAACAGGTAAACAG	0.403																																							uc010rav.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)ACA>AAA		olfactory receptor, family 2, subfamily D,							72.0	74.0	73.0					11																	6942258		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942258C>A	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.26C>A	11.37:g.6942258C>A	ENSP00000320560:p.Thr9Lys						p.T9K	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	26	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	9			Extracellular (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.26C>A	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410155	0.25465	.	.	ENSG00000178358	ENST00000317834	T	0.00856	5.61	4.22	0.0892	0.14458	.	.	.	.	.	T	0.00608	0.0020	N	0.12182	0.205	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.46484	-0.9188	9	0.22109	T	0.4	.	3.4297	0.07424	0.1782:0.5232:0.0:0.2986	.	9	Q8NGH3	OR2D3_HUMAN	K	9	ENSP00000320560:T9K	ENSP00000320560:T9K	T	+	2	0	OR2D3	6898834	0.027000	0.19231	0.000000	0.03702	0.380000	0.30137	-0.118000	0.10692	0.029000	0.15352	-0.141000	0.14075	ACA		0.403	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		10	56	1	0	2.80697e-09	0.000978	3.89847e-09	10	56				
NLRP14	338323	broad.mit.edu	37	11	7064401	7064401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7064401C>A	ENST00000299481.4	+	4	1490	c.1144C>A	c.(1144-1146)Caa>Aaa	p.Q382K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	382	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.Q382K(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTGAAGCAGCAAATGGAGAA	0.473																																							uc001mfb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1144-1146)CAA>AAA		NLR family, pyrin domain containing 14							146.0	142.0	143.0					11																	7064401		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064401C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1144C>A	11.37:g.7064401C>A	ENSP00000299481:p.Gln382Lys						p.Q382K	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1467	+			382			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1144C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754775	0.49362	.	.	ENSG00000158077	ENST00000299481	D	0.83755	-1.76	4.69	0.347	0.16022	.	0.798779	0.11028	N	0.607633	D	0.82495	0.5049	M	0.85197	2.74	0.22280	N	0.999237	B	0.18461	0.028	B	0.14023	0.01	T	0.73770	-0.3878	10	0.72032	D	0.01	.	8.2152	0.31507	0.2867:0.4345:0.2788:0.0	.	382	Q86W24	NAL14_HUMAN	K	382	ENSP00000299481:Q382K	ENSP00000299481:Q382K	Q	+	1	0	NLRP14	7020977	0.002000	0.14202	0.973000	0.42090	0.994000	0.84299	-0.165000	0.09968	-0.005000	0.14395	0.655000	0.94253	CAA		0.473	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		19	159	1	0	0.00741294	0.007413	0.0078056	19	159				
NLRP10	338322	broad.mit.edu	37	11	7982364	7982364	+	Missense_Mutation	SNP	C	C	A	rs200543557		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7982364C>A	ENST00000328600.2	-	2	956	c.795G>T	c.(793-795)agG>agT	p.R265S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	265	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.R265S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACTCAAACCCCTCTTCTTCA	0.552																																							uc001mfv.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(793-795)AGG>AGT		NLR family, pyrin domain containing 10							75.0	76.0	76.0					11																	7982364		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982364C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.795G>T	11.37:g.7982364C>A	ENSP00000327763:p.Arg265Ser						p.R265S	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	812	-			265			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.795G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	4.686	0.127608	0.08981	.	.	ENSG00000182261	ENST00000328600	T	0.76968	-1.06	4.35	0.384	0.16244	NACHT nucleoside triphosphatase (1);	2.427600	0.02678	N	0.109345	T	0.65439	0.2691	N	0.14661	0.345	0.09310	N	1	B	0.33345	0.409	B	0.41135	0.348	T	0.54820	-0.8236	10	0.09084	T	0.74	.	6.9522	0.24552	0.0:0.5978:0.0:0.4022	.	265	Q86W26	NAL10_HUMAN	S	265	ENSP00000327763:R265S	ENSP00000327763:R265S	R	-	3	2	NLRP10	7938940	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.645000	0.24782	0.087000	0.17167	0.563000	0.77884	AGG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		19	158	1	0	5.3912e-06	0.006122	6.50913e-06	19	158				
NLRP10	338322	broad.mit.edu	37	11	7982526	7982526	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7982526C>A	ENST00000328600.2	-	2	794	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	211	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.V211V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGCAGGACCACTTCTTTGC	0.537																																							uc001mfv.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(631-633)GTG>GTT		NLR family, pyrin domain containing 10							44.0	46.0	46.0					11																	7982526		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982526C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.633G>T	11.37:g.7982526C>A							p.V211V	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	650	-			211			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.633G>T	CCDS7784.1																																																																																				0.537	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		6	57	1	0	3.09899e-07	0.004482	3.96541e-07	6	57				
RIC3	79608	broad.mit.edu	37	11	8132302	8132302	+	Silent	SNP	G	G	A	rs17852022	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:8132302G>A	ENST00000309737.6	-	6	1052	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	RIC3_ENST00000335425.7_Silent_p.T169T|RIC3_ENST00000425599.2_Silent_p.T270T|RIC3_ENST00000539720.1_Silent_p.T302T|RIC3_ENST00000396677.2_Silent_p.T189T|RIC3_ENST00000343202.4_Silent_p.T350T|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	351					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T350T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGCTTTATCGGTGCTGATGC	0.478													G|||	3	0.000599042	0.0	0.0	5008	,	,		21917	0.0		0.001	False		,,,				2504	0.002						uc001mgd.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1051-1053)ACC>ACT		resistance to inhibitors of cholinesterase 3		G	,,,	0,4402		0,0,2201	164.0	144.0	151.0		507,1053,810,1050	-1.9	0.0	11	dbSNP_123	151	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIC3	NM_001135109.1,NM_001206671.1,NM_001206672.1,NM_024557.3	,,,	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	,,,	169/188,351/370,270/289,350/369	8132302	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132302G>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.1053C>T	11.37:g.8132302G>A						RIC3_uc001mgb.2_Silent_p.T189T|RIC3_uc001mgc.2_Silent_p.T350T|RIC3_uc001mge.2_Silent_p.T169T|RIC3_uc010rbl.1_Silent_p.T301T|RIC3_uc010rbm.1_Silent_p.T379T|RIC3_uc009yfm.2_Silent_p.T270T|RIC3_uc009yfn.2_Silent_p.T154T	p.T351T	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	6	1107	-			351			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	37	c.1053C>T	CCDS55742.1																																																																																				0.478	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		19	153	0	0	0	0.010504	0	19	153				
ASCL3	56676	broad.mit.edu	37	11	8959435	8959435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:8959435G>T	ENST00000531618.1	-	1	323	c.274C>A	c.(274-276)Cca>Aca	p.P92T	ASCL3_ENST00000325884.1_Missense_Mutation_p.P92T			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	91	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.P92T(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTGAAGGCTGGCCCGTAGGAG	0.537																																							uc001mhd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CCA>ACA		ASCL3							62.0	64.0	63.0					11																	8959435		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959435G>T	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.274C>A	11.37:g.8959435G>T	ENSP00000435770:p.Pro92Thr						p.P92T	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	334	-			91					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.274C>A	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196127	0.58126	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.88124	-2.34;-2.34	5.72	5.72	0.89469	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.89525	0.6740	L	0.36672	1.1	0.54753	D	0.999981	D	0.76494	0.999	D	0.65874	0.939	D	0.89569	0.3812	10	0.54805	T	0.06	-11.0256	15.0184	0.71605	0.0698:0.0:0.9302:0.0	.	91	Q9NQ33	ASCL3_HUMAN	T	92	ENSP00000318846:P92T;ENSP00000435770:P92T	ENSP00000318846:P92T	P	-	1	0	ASCL3	8916011	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	5.760000	0.68793	2.717000	0.92951	0.650000	0.86243	CCA		0.537	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			12	98	1	0	9.05144e-12	0.001855	1.37873e-11	12	98				
SPON1	10418	broad.mit.edu	37	11	14282211	14282211	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:14282211C>A	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA														p.R636R(1)									CATGCGAACCCGACAGCGGAT	0.572																																							uc001mle.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1909-1911)CGA>AGA		spondin 1, extracellular matrix protein							88.0	90.0	89.0					11																	14282211		2088	4211	6299			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14282211C>A																													11.37:g.14282211C>A							p.R637R	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	15	2447	+			637			TSP type-1 4.			Silent	SNP	ENST00000534587.1	37	c.1909C>A																																																																																					0.572	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			9	91	1	0	0.000442599	0.006214	0.000490172	9	91				
SOX6	55553	broad.mit.edu	37	11	16340125	16340125	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:16340125T>G	ENST00000352083.6	-	3	389	c.312A>C	c.(310-312)gaA>gaC	p.E104D	SOX6_ENST00000528429.1_Missense_Mutation_p.E104D|SOX6_ENST00000316399.6_Missense_Mutation_p.E104D|SOX6_ENST00000527619.1_Missense_Mutation_p.E107D|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528252.1_Missense_Mutation_p.E104D|SOX6_ENST00000396356.3_Missense_Mutation_p.E104D			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	104					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E107D(1)|p.E104D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCCGACTCCCTTCGTCAGGCT	0.433																																							uc001mme.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(349-351)GAA>GAC		SRY (sex determining region Y)-box 6 isoform 4							156.0	149.0	152.0					11																	16340125		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340125T>G	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.312A>C	11.37:g.16340125T>G	ENSP00000339876:p.Glu104Asp					SOX6_uc001mmd.2_Missense_Mutation_p.E107D|SOX6_uc001mmf.2_Missense_Mutation_p.E104D|SOX6_uc001mmg.2_Missense_Mutation_p.E104D|SOX6_uc001mmh.1_RNA|SOX6_uc009ygs.2_RNA|SOX6_uc001mmi.3_Missense_Mutation_p.E104D|SOX6_uc001mmj.2_Missense_Mutation_p.E104D	p.E117D	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			3	384	-			104					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.351A>C		.	.	.	.	.	.	.	.	.	.	T	16.26	3.072886	0.55646	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	D;D;D;D;D;D	0.98150	-4.75;-4.73;-4.75;-4.73;-4.72;-4.73	5.28	-0.283	0.12874	.	0.339804	0.31199	N	0.008069	D	0.94525	0.8237	L	0.57536	1.79	0.45129	D	0.998143	B;B;B;B;B	0.18863	0.031;0.012;0.019;0.001;0.0	B;B;B;B;B	0.21360	0.016;0.01;0.034;0.008;0.003	D	0.87463	0.2409	10	0.56958	D	0.05	.	4.0057	0.09600	0.117:0.0669:0.2433:0.5728	.	104;104;104;104;107	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	D	104;104;104;104;107;104;104;104	ENSP00000324948:E104D;ENSP00000339876:E104D;ENSP00000379644:E104D;ENSP00000432134:E104D;ENSP00000434455:E107D;ENSP00000433233:E104D	ENSP00000324948:E104D	E	-	3	2	SOX6	16296701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.830000	0.39131	0.065000	0.16485	0.533000	0.62120	GAA		0.433	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		19	164	0	0	0	0.00333	0	19	164				
PIK3C2A	5286	broad.mit.edu	37	11	17172116	17172116	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:17172116C>A	ENST00000265970.7	-	3	1255	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G39V|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	419					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.G419V(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AGCATTTTCTCCGCATATGTT	0.413																																							uc001mmq.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(1255-1257)GGA>GTA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						187.0	154.0	165.0					11																	17172116		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17172116C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1256G>T	11.37:g.17172116C>A	ENSP00000265970:p.Gly419Val					PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Missense_Mutation_p.G39V|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.G419V|PIK3C2A_uc009ygv.1_Missense_Mutation_p.G419V	p.G419V	NM_002645	NP_002636	O00443	P3C2A_HUMAN			3	1322	-			419					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1256G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790953	0.70452	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.47869	0.83;0.83	5.94	5.94	0.96194	Phosphoinositide 3-kinase, ras-binding (2);	0.106692	0.64402	D	0.000005	T	0.65491	0.2696	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.73380	0.98;0.916	T	0.58679	-0.7594	10	0.17832	T	0.49	-18.1865	15.798	0.78428	0.0:0.8647:0.1353:0.0	.	419;419	F5H5W9;O00443	.;P3C2A_HUMAN	V	419;39;419	ENSP00000265970:G419V;ENSP00000438687:G39V	ENSP00000265970:G419V	G	-	2	0	PIK3C2A	17128692	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.708000	0.47152	2.807000	0.96579	0.591000	0.81541	GGA		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		10	97	1	0	4.3838e-07	0.001855	5.56242e-07	10	97				
ABCC8	6833	broad.mit.edu	37	11	17428936	17428936	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:17428936C>A	ENST00000389817.3	-	24	2953	c.2885G>T	c.(2884-2886)aGg>aTg	p.R962M	ABCC8_ENST00000302539.4_Missense_Mutation_p.R963M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	962					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.R962M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AAGGCCATCCCTCGAGGACAT	0.547																																							uc001mnc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2884-2886)AGG>ATG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						147.0	136.0	140.0					11																	17428936		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428936C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2885G>T	11.37:g.17428936C>A	ENSP00000374467:p.Arg962Met						p.R962M	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	24	3011	-			962			Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2885G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108227	0.77096	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.92048	-2.96;-2.96	6.17	4.32	0.51571	.	0.101926	0.64402	D	0.000005	D	0.94561	0.8248	M	0.61703	1.905	0.53005	D	0.999965	D	0.69078	0.997	D	0.68621	0.959	D	0.94229	0.7474	10	0.62326	D	0.03	.	13.0001	0.58670	0.0:0.8702:0.0:0.1298	.	962	Q09428	ABCC8_HUMAN	M	962;963	ENSP00000374467:R962M;ENSP00000303960:R963M	ENSP00000303960:R963M	R	-	2	0	ABCC8	17385512	0.988000	0.35896	0.992000	0.48379	0.974000	0.67602	2.360000	0.44151	0.939000	0.37446	-0.150000	0.13652	AGG		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		26	179	1	0	3.28513e-13	0.003954	5.22224e-13	26	179				
TPH1	7166	broad.mit.edu	37	11	18048061	18048061	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18048061G>A	ENST00000250018.2	-	6	1341	c.779C>T	c.(778-780)tCa>tTa	p.S260L	TPH1_ENST00000341556.2_Missense_Mutation_p.S260L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	260					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.S260L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAGGGATCTGAACTGTGTCT	0.393																																							uc001mnp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(778-780)TCA>TTA		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						91.0	93.0	93.0					11																	18048061		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18048061G>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.779C>T	11.37:g.18048061G>A	ENSP00000250018:p.Ser260Leu					TPH1_uc009yhe.2_RNA	p.S260L	NM_004179	NP_004170	P17752	TPH1_HUMAN			6	805	-			260					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.779C>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466544	0.84425	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99582	-6.22;-6.22	5.4	5.4	0.78164	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	M	0.86651	2.83	0.80722	D	1	B	0.31859	0.343	B	0.37731	0.257	D	0.99797	1.1034	10	0.87932	D	0	-12.5982	19.5398	0.95270	0.0:0.0:1.0:0.0	.	260	P17752	TPH1_HUMAN	L	260	ENSP00000250018:S260L;ENSP00000343550:S260L	ENSP00000250018:S260L	S	-	2	0	TPH1	18004637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.767000	0.98960	2.694000	0.91930	0.467000	0.42956	TCA		0.393	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		7	98	0	0	0	0.001984	0	7	98				
GTF2H1	2965	broad.mit.edu	37	11	18369250	18369250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18369250G>C	ENST00000265963.4	+	8	1113	c.953G>C	c.(952-954)gGa>gCa	p.G318A	GTF2H1_ENST00000534641.1_Missense_Mutation_p.G202A|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G318A|GTF2H1_ENST00000530496.2_Missense_Mutation_p.G6A|GTF2H1_ENST00000524753.4_Missense_Mutation_p.G114A	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	318					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G318A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTGGCAGCTGGACTCAGAAAA	0.418								Nucleotide excision repair (NER)																															uc001moi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(952-954)GGA>GCA	NER	general transcription factor IIH, polypeptide 1,							82.0	83.0	83.0					11																	18369250		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369250G>C		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.953G>C	11.37:g.18369250G>C	ENSP00000265963:p.Gly318Ala					GTF2H1_uc001moh.2_Missense_Mutation_p.G318A|GTF2H1_uc009yhm.2_Missense_Mutation_p.G202A|GTF2H1_uc001moj.2_Missense_Mutation_p.G6A	p.G318A	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			9	1647	+			318					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.953G>C	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567438	0.45694	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753;ENST00000530496	T;T;T;T;T	0.50548	2.03;2.06;2.03;1.5;0.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	L	0.55481	1.735	0.80722	D	1	B	0.22683	0.073	B	0.21546	0.035	T	0.42189	-0.9466	10	0.07990	T	0.79	-16.8034	19.5504	0.95315	0.0:0.0:1.0:0.0	.	318	P32780	TF2H1_HUMAN	A	318;202;318;114;6	ENSP00000393638:G318A;ENSP00000435375:G202A;ENSP00000265963:G318A;ENSP00000436575:G114A;ENSP00000433133:G6A	ENSP00000265963:G318A	G	+	2	0	GTF2H1	18325826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.197000	0.94985	2.617000	0.88574	0.561000	0.74099	GGA		0.418	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		13	86	0	0	0	0.004007	0	13	86				
LDHC	3948	broad.mit.edu	37	11	18436751	18436751	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18436751C>G	ENST00000541669.1	+	3	258	c.147C>G	c.(145-147)gcC>gcG	p.A49A	LDHC_ENST00000280704.4_Silent_p.A49A|LDHC_ENST00000535809.1_Silent_p.A49A|LDHC_ENST00000537486.1_Silent_p.A49A|LDHC_ENST00000544105.1_Silent_p.A49A|LDHC_ENST00000546146.1_Silent_p.A49A|LDHC_ENST00000536880.1_Silent_p.A49A			P07864	LDHC_HUMAN	lactate dehydrogenase C	49					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.A49A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGAACTTGCCCTTGTTGATG	0.348																																							uc001mon.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GCC>GCG		L-lactate dehydrogenase C	NADH(DB00157)						106.0	99.0	101.0					11																	18436751		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18436751C>G	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.147C>G	11.37:g.18436751C>G						LDHC_uc001mom.3_Silent_p.A49A|LDHC_uc009yhp.2_Silent_p.A49A|LDHC_uc001moo.3_Intron|LDHC_uc009yhq.2_Intron|LDHC_uc009yhr.2_Intron	p.A49A	NM_017448	NP_059144	P07864	LDHC_HUMAN			3	259	+			49			NAD (By similarity).		D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.147C>G	CCDS7840.1																																																																																				0.348	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		10	81	0	0	0	0.000978	0	10	81				
PRMT3	10196	broad.mit.edu	37	11	20429516	20429516	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:20429516G>T	ENST00000331079.6	+	9	1048	c.831G>T	c.(829-831)ggG>ggT	p.G277G	PRMT3_ENST00000437750.2_Silent_p.G215G	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	277	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.G277G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CTAAAGCTGGGGCGAAGAAGG	0.338																																							uc001mqb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)GGG>GGT		protein arginine methyltransferase 3 isoform 1							144.0	137.0	140.0					11																	20429516		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20429516G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.831G>T	11.37:g.20429516G>T						PRMT3_uc001mqc.2_Silent_p.G200G|PRMT3_uc010rdn.1_Silent_p.G215G	p.G277G	NM_005788	NP_005779	O60678	ANM3_HUMAN			9	1048	+			277					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.831G>T	CCDS7853.1																																																																																				0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		12	96	1	0	3.35478e-16	0.003163	5.70631e-16	12	96				
SLC6A5	9152	broad.mit.edu	37	11	20673895	20673896	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:20673895_20673896CC>AA	ENST00000525748.1	+	15	2404_2405	c.2131_2132CC>AA	c.(2131-2133)CCt>AAt	p.P711N	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	711					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.P711N(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)	TTACCGCTATCCTAACTGGTCC	0.485																																							uc001mqd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2131-2133)CCT>AAT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)																																			SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673895_20673896CC>AA	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	Exception_encountered	11.37:g.20673895_20673896delinsAA	ENSP00000434364:p.Pro711Asn					SLC6A5_uc009yic.2_Missense_Mutation_p.P476N	p.P711N	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			15	2404_2405	+			711					O95288|Q4VAM7|Q9BX77	Missense_Mutation	DNP	ENST00000525748.1	37	c.2131_2132CC>AA	CCDS7854.1																																																																																				0.485	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		26	175	0	0	0	0.004672	0	26	175				
SLC17A6	57084	broad.mit.edu	37	11	22397614	22397614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:22397614G>T	ENST00000263160.3	+	10	1698	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	421					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G421*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTTGCAGTGGGATTCAGTGG	0.398																																							uc001mqk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1261-1263)GGA>TGA		solute carrier family 17 (sodium-dependent							160.0	167.0	165.0					11																	22397614		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22397614G>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1261G>T	11.37:g.22397614G>T	ENSP00000263160:p.Gly421*						p.G421*	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			10	1674	+			421			Helical; (Potential).		A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.1261G>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	43	9.950427	0.99303	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	421;309	.	ENSP00000263160:G421X	G	+	1	0	SLC17A6	22354190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.867000	0.99620	2.941000	0.99782	0.655000	0.94253	GGA		0.398	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		16	141	1	0	3.51602e-12	0.008871	5.4356e-12	16	141				
ANO3	63982	broad.mit.edu	37	11	26463539	26463539	+	Missense_Mutation	SNP	G	G	T	rs150999282		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:26463539G>T	ENST00000256737.3	+	2	973	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	ANO3_ENST00000531646.1_Missense_Mutation_p.A41S|ANO3_ENST00000537978.1_Missense_Mutation_p.A25S|ANO3_ENST00000525139.1_Missense_Mutation_p.A25S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	41					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.A41S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCCTTGCCTCGCCCAGAGCTA	0.443																																							uc001mqt.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(121-123)GCC>TCC		transmembrane protein 16C		G	SER/ALA	0,4406		0,0,2203	150.0	154.0	152.0		121	4.3	0.8	11	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANO3	NM_031418.2	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	41/982	26463539	1,13005	2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463539G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.121G>T	11.37:g.26463539G>T	ENSP00000256737:p.Ala41Ser					ANO3_uc010rdr.1_Missense_Mutation_p.A25S	p.A41S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			2	266	+			41			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.121G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854146	0.51270	0.0	1.16E-4	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.24	4.33	0.51752	.	0.134805	0.48767	D	0.000178	T	0.46464	0.1394	N	0.24115	0.695	0.32736	N	0.508307	B	0.32573	0.376	B	0.32980	0.156	T	0.58819	-0.7569	10	0.41790	T	0.15	.	10.2367	0.43288	0.0928:0.0:0.9072:0.0	.	41	Q9BYT9	ANO3_HUMAN	S	25;25;41;41	ENSP00000440737:A25S;ENSP00000432576:A25S;ENSP00000256737:A41S;ENSP00000435275:A41S	ENSP00000256737:A41S	A	+	1	0	ANO3	26420115	0.733000	0.28132	0.840000	0.33206	0.783000	0.44284	2.766000	0.47629	1.537000	0.49254	0.650000	0.86243	GCC		0.443	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		65	210	1	0	9.5628e-27	0.00361	1.81306e-26	65	210				
ANO3	63982	broad.mit.edu	37	11	26552826	26552826	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:26552826C>G	ENST00000256737.3	+	8	1664	c.812C>G	c.(811-813)cCa>cGa	p.P271R	ANO3_ENST00000537978.1_Missense_Mutation_p.P255R|ANO3_ENST00000531568.1_Missense_Mutation_p.P125R|ANO3_ENST00000525139.1_Missense_Mutation_p.P255R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	271					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.P271R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCAGCTTTTCCAGACCTAGAG	0.438																																							uc001mqt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(811-813)CCA>CGA		transmembrane protein 16C							143.0	132.0	136.0					11																	26552826		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26552826C>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.812C>G	11.37:g.26552826C>G	ENSP00000256737:p.Pro271Arg					ANO3_uc010rdr.1_Missense_Mutation_p.P255R|ANO3_uc010rds.1_Missense_Mutation_p.P110R|ANO3_uc010rdt.1_Missense_Mutation_p.P125R	p.P271R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			8	957	+			271			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.812C>G	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285125	0.80803	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83950	0.0316	10	0.56958	D	0.05	.	19.0832	0.93190	0.0:1.0:0.0:0.0	.	173;271	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	255;255;271;173;125	ENSP00000440737:P255R;ENSP00000432576:P255R;ENSP00000256737:P271R;ENSP00000432394:P125R	ENSP00000256737:P271R	P	+	2	0	ANO3	26509402	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	6.724000	0.74747	2.620000	0.88729	0.557000	0.71058	CCA		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		16	132	0	0	0	0.004007	0	16	132				
KIF18A	81930	broad.mit.edu	37	11	28058003	28058003	+	Silent	SNP	T	T	A	rs372826404		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:28058003T>A	ENST00000263181.6	-	14	2447	c.2157A>T	c.(2155-2157)acA>acT	p.T719T		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	719					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.T719T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAAGGTTACTGTAGACGGAT	0.353																																							uc001msc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2155-2157)ACA>ACT		kinesin family member 18A							127.0	127.0	127.0					11																	28058003		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058003T>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2157A>T	11.37:g.28058003T>A							p.T719T	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			14	2339	-			719					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2157A>T	CCDS7867.1																																																																																				0.353	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		9	97	0	0	0	0.000978	0	9	97				
DCDC1	341019	broad.mit.edu	37	11	31327816	31327816	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31327816G>A	ENST00000452803.1	-	5	755	c.554C>T	c.(553-555)aCa>aTa	p.T185I	DCDC1_ENST00000597505.1_Missense_Mutation_p.T185I|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	185	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.T185I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCAAAGACTGTTCTAGATCC	0.348																																							uc001msv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(553-555)ACA>ATA		doublecortin domain containing 1							126.0	121.0	123.0					11																	31327816		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31327816G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.554C>T	11.37:g.31327816G>A	ENSP00000389792:p.Thr185Ile					DCDC1_uc001msu.1_5'UTR	p.T185I	NM_181807	NP_861523	P59894	DCDC1_HUMAN			5	756	-	Lung SC(675;0.225)		185			Doublecortin.		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.554C>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455216	0.43634	.	.	ENSG00000188682	ENST00000452803	D	0.92495	-3.05	5.95	1.51	0.23008	Doublecortin domain (3);	0.376483	0.23007	N	0.053003	D	0.86531	0.5955	L	0.45581	1.43	0.22096	N	0.999362	B	0.33212	0.402	B	0.36766	0.232	T	0.76934	-0.2775	10	0.41790	T	0.15	.	3.9489	0.09360	0.0814:0.1216:0.305:0.492	.	185	P59894	DCDC1_HUMAN	I	185	ENSP00000389792:T185I	ENSP00000343496:T185I	T	-	2	0	DCDC1	31284392	0.397000	0.25270	1.000000	0.80357	0.952000	0.60782	1.159000	0.31749	0.830000	0.34757	-0.974000	0.02594	ACA		0.348	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		6	56	0	0	0	0.001984	0	6	56				
PAX6	5080	broad.mit.edu	37	11	31812322	31812322	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31812322G>T	ENST00000379132.3	-	11	1399	c.1119C>A	c.(1117-1119)acC>acA	p.T373T	PAX6_ENST00000241001.8_Silent_p.T373T|PAX6_ENST00000419022.1_Silent_p.T387T|PAX6_ENST00000379129.2_Silent_p.T387T|PAX6_ENST00000379123.5_Silent_p.T373T|PAX6_ENST00000379115.4_Silent_p.T387T|PAX6_ENST00000379111.2_Silent_p.T373T|PAX6_ENST00000379107.2_Silent_p.T387T			P26367	PAX6_HUMAN	paired box 6	373	Pro/Ser/Thr-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.T387T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TATGTGGGGGGGTGTAGGTAT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																														uc001mtd.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(1117-1119)ACC>ACA		paired box gene 6 isoform a							116.0	102.0	106.0					11																	31812322		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812322G>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1119C>A	11.37:g.31812322G>T						PAX6_uc001mte.3_Silent_p.T373T|PAX6_uc001mtg.3_Silent_p.T387T|PAX6_uc001mtf.3_Silent_p.T373T|PAX6_uc001mth.3_Silent_p.T373T|PAX6_uc009yjr.2_Silent_p.T373T	p.T373T	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			11	2009	-	Lung SC(675;0.225)		373			Pro/Ser/Thr-rich.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.1119C>A	CCDS31451.1																																																																																				0.592	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		11	92	1	0	3.86212e-05	0.008291	4.46834e-05	11	92				
PAX6	5080	broad.mit.edu	37	11	31822341	31822341	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31822341C>T	ENST00000379132.3	-	6	701	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000241001.8_Missense_Mutation_p.G141S|PAX6_ENST00000419022.1_Missense_Mutation_p.G155S|PAX6_ENST00000379129.2_Missense_Mutation_p.G155S|PAX6_ENST00000379123.5_Missense_Mutation_p.G141S|PAX6_ENST00000379115.4_Missense_Mutation_p.G155S|PAX6_ENST00000379111.2_Missense_Mutation_p.G141S|PAX6_ENST00000379107.2_Missense_Mutation_p.G155S			P26367	PAX6_HUMAN	paired box 6	141	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G155S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCATACATGCCGTCTGCGCCC	0.517									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																														uc001mtd.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(421-423)GGC>AGC		paired box gene 6 isoform a							153.0	131.0	138.0					11																	31822341		2202	4299	6501	SO:0001583	missense	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31822341C>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.421G>A	11.37:g.31822341C>T	ENSP00000368427:p.Gly141Ser					PAX6_uc001mte.3_Missense_Mutation_p.G141S|PAX6_uc001mtg.3_Missense_Mutation_p.G155S|PAX6_uc001mtf.3_Missense_Mutation_p.G141S|PAX6_uc001mth.3_Missense_Mutation_p.G141S|PAX6_uc009yjr.2_Missense_Mutation_p.G141S	p.G141S	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			6	1311	-	Lung SC(675;0.225)		141			Gln/Gly-rich.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.421G>A	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460467	0.26248	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303;ENST00000455099;ENST00000481563;ENST00000534390	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98777	-3.21;-3.24;-3.21;-3.21;-3.24;-3.21;-3.24;-3.24;-2.4;-2.4;-3.24;-2.95;-2.31;-3.1;-5.13	4.35	4.35	0.52113	.	0.233665	0.43260	D	0.000587	D	0.93867	0.8038	N	0.10782	0.045	0.80722	D	1	B;B	0.26876	0.162;0.019	B;B	0.15052	0.012;0.008	D	0.92439	0.5960	10	0.02654	T	1	.	16.845	0.85978	0.0:1.0:0.0:0.0	.	155;141	F1T0F8;P26367	.;PAX6_HUMAN	S	155;141;155;155;141;155;141;141;5;5;141;96;5;5;88;5;5	ENSP00000404100:G155S;ENSP00000368427:G141S;ENSP00000368424:G155S;ENSP00000368401:G155S;ENSP00000241001:G141S;ENSP00000368410:G155S;ENSP00000368406:G141S;ENSP00000368418:G141S;ENSP00000451901:G5S;ENSP00000450775:G5S;ENSP00000368403:G141S;ENSP00000451372:G96S;ENSP00000452558:G5S;ENSP00000435884:G5S;ENSP00000397384:G88S	ENSP00000241001:G141S	G	-	1	0	PAX6	31778917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.130000	0.65690	0.561000	0.74099	GGC		0.517	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		19	129	0	0	0	0.006122	0	19	129				
WT1	7490	broad.mit.edu	37	11	32413568	32413568	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:32413568G>A	ENST00000379079.2	-	9	1019	c.746C>T	c.(745-747)tCc>tTc	p.S249F	WT1_ENST00000332351.3_Missense_Mutation_p.S461F|WT1_ENST00000448076.3_Missense_Mutation_p.S461F|WT1_ENST00000530998.1_Missense_Mutation_p.S232F	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	393					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V380_S410del(1)|p.S249F(1)|p.S393F(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCGGACCGGGAGAACTTTCG	0.433			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	3	Substitution - Missense(2)|Deletion - In frame(1)	p.V380_S410del(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1381-1383)TCC>TTC		Wilms tumor 1 isoform D							190.0	185.0	187.0					11																	32413568		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413568G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.746C>T	11.37:g.32413568G>A	ENSP00000368370:p.Ser249Phe					WT1_uc001mtl.1_Missense_Mutation_p.S249F|WT1_uc001mtm.1_Missense_Mutation_p.S232F|WT1_uc001mto.1_Missense_Mutation_p.S461F|WT1_uc001mtp.1_Missense_Mutation_p.S444F|WT1_uc001mtq.1_Missense_Mutation_p.S444F|WT1_uc009yjs.1_RNA	p.S461F	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1578	-	Breast(20;0.247)		393			C2H2-type 3.|Important for interaction with target DNA.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1382C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701843	0.88924	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.20200	3.14;2.09;2.09;3.14;3.14	6.04	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000004	T	0.47507	0.1449	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.992;0.994	T	0.51419	-0.8708	10	0.72032	D	0.01	.	16.5978	0.84801	0.0:0.0:0.8686:0.1314	.	449;393;466;232;249	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	F	249;461;232;444;461	ENSP00000368370:S249F;ENSP00000331327:S461F;ENSP00000435307:S232F;ENSP00000415516:S444F;ENSP00000413452:S461F	ENSP00000331327:S461F	S	-	2	0	WT1	32370144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	1.531000	0.49152	0.561000	0.74099	TCC		0.433	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		53	374	0	0	0	0.00361	0	53	374				
FBXO3	26273	broad.mit.edu	37	11	33792333	33792333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:33792333C>A	ENST00000265651.3	-	2	166	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000530401.1_Missense_Mutation_p.D45Y|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000448981.2_Missense_Mutation_p.D50Y|FBXO3_ENST00000534136.1_Missense_Mutation_p.D50Y	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	50	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.D50Y(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CACAGCGGATCATGACTTGAT	0.383																																							uc001muz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(148-150)GAT>TAT		F-box only protein 3 isoform 1							249.0	230.0	237.0					11																	33792333		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33792333C>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.148G>T	11.37:g.33792333C>A	ENSP00000265651:p.Asp50Tyr					FBXO3_uc001muy.2_5'UTR|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.D50Y|FBXO3_uc001mvb.1_Missense_Mutation_p.D45Y|FBXO3_uc010rek.1_RNA	p.D50Y	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	2	176	-		Lung NSC(402;0.0804)	50			F-box.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.148G>T	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843849	0.71488	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.5	5.5	0.81552	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.043790	0.85682	D	0.000000	T	0.80423	0.4620	M	0.91768	3.24	0.54753	D	0.999982	D;D;D	0.69078	0.986;0.989;0.997	P;P;D	0.67103	0.814;0.859;0.949	D	0.84823	0.0797	10	0.87932	D	0	-26.6163	16.3127	0.82898	0.0:1.0:0.0:0.0	.	45;50;50	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	Y	50;47;45;50;50	ENSP00000265651:D50Y;ENSP00000433781:D45Y;ENSP00000431745:D50Y;ENSP00000408836:D50Y	ENSP00000265651:D50Y	D	-	1	0	FBXO3	33748909	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.966000	0.56795	2.596000	0.87737	0.484000	0.47621	GAT		0.383	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		31	281	1	0	2.20474e-14	0.003755	3.60375e-14	31	281				
LMO2	4005	broad.mit.edu	37	11	33881003	33881003	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:33881003G>C	ENST00000395833.3	-	3	805	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	LMO2_ENST00000257818.2_Missense_Mutation_p.Q195E	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	126	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)	p.Q126E(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						AAATGCTTCTGACAGGCGGCG	0.468			T	TRD@	T-ALL																																		uc001mve.2		NA		Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(376-378)CAG>GAG		LIM domain only 2 isoform 2							135.0	113.0	120.0					11																	33881003		2202	4298	6500	SO:0001583	missense	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33881003G>C	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.376C>G	11.37:g.33881003G>C	ENSP00000379175:p.Gln126Glu					LMO2_uc001mvc.2_Missense_Mutation_p.Q119E|LMO2_uc001mvd.2_Missense_Mutation_p.Q119E|LMO2_uc010rel.1_Missense_Mutation_p.Q126E|LMO2_uc010rem.1_Missense_Mutation_p.Q195E	p.Q126E	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN			3	815	-			126			LIM zinc-binding 2.		Q9HD58	Missense_Mutation	SNP	ENST00000395833.3	37	c.376C>G	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241153	0.58995	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	D;D	0.87650	-2.28;-2.28	5.15	5.15	0.70609	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	N	0.26042	0.785	0.80722	D	1	B;P	0.45396	0.022;0.857	B;P	0.54238	0.017;0.746	D	0.88708	0.3220	10	0.56958	D	0.05	.	19.008	0.92859	0.0:0.0:1.0:0.0	.	195;126	P25791-3;P25791	.;RBTN2_HUMAN	E	126;195	ENSP00000379175:Q126E;ENSP00000257818:Q195E	ENSP00000257818:Q195E	Q	-	1	0	LMO2	33837579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.623000	0.98386	2.582000	0.87167	0.491000	0.48974	CAG		0.468	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		8	87	0	0	0	0.00308	0	8	87				
RAG2	5897	broad.mit.edu	37	11	36614951	36614951	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:36614951G>T	ENST00000311485.3	-	2	929	c.768C>A	c.(766-768)atC>atA	p.I256I	C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	256					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.I256I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGGAGACAGAGATTCCTCCTG	0.438									Familial Hemophagocytic Lymphohistiocytosis																														uc001mwv.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(766-768)ATC>ATA		recombination activating gene 2							64.0	65.0	65.0					11																	36614951		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614951G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.768C>A	11.37:g.36614951G>T						C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.I256I	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	956	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	256					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.768C>A	CCDS7903.1																																																																																				0.438	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		15	62	1	0	0.000308642	0.003163	0.000343751	15	62				
CHST1	8534	broad.mit.edu	37	11	45671848	45671848	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:45671848C>A	ENST00000308064.2	-	4	1296	c.626G>T	c.(625-627)cGc>cTc	p.R209L	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	209					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.R209L(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTCGGGCACGCGCACCGTCTT	0.677																																							uc001mys.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|pancreas(1)	5						c.(625-627)CGC>CTC		carbohydrate (keratan sulfate Gal-6)							32.0	31.0	31.0					11																	45671848		2203	4298	6501	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671848C>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.626G>T	11.37:g.45671848C>A	ENSP00000309270:p.Arg209Leu						p.R209L	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1297	-			209			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.626G>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665726	0.88251	.	.	ENSG00000175264	ENST00000308064	D	0.83992	-1.79	4.98	4.98	0.66077	Sulfotransferase domain (1);	0.058924	0.64402	D	0.000002	D	0.93307	0.7867	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94775	0.7948	10	0.66056	D	0.02	-14.3013	18.2637	0.90044	0.0:1.0:0.0:0.0	.	209	O43916	CHST1_HUMAN	L	209	ENSP00000309270:R209L	ENSP00000309270:R209L	R	-	2	0	CHST1	45628424	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.810000	0.86072	2.310000	0.77875	0.462000	0.41574	CGC		0.677	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		11	63	1	0	2.31682e-05	0.003163	2.70915e-05	11	63				
DGKZ	8525	broad.mit.edu	37	11	46393118	46393118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:46393118C>A	ENST00000454345.1	+	9	1413	c.1288C>A	c.(1288-1290)Ccg>Acg	p.P430T	DGKZ_ENST00000421244.2_Missense_Mutation_p.P242T|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.P258T|DGKZ_ENST00000395574.3_Missense_Mutation_p.P208T|DGKZ_ENST00000532868.2_Missense_Mutation_p.P246T|DGKZ_ENST00000528615.1_Missense_Mutation_p.P20T|DGKZ_ENST00000318201.8_Missense_Mutation_p.P219T|DGKZ_ENST00000527911.1_Missense_Mutation_p.P242T|DGKZ_ENST00000456247.2_Missense_Mutation_p.P241T	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	430					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.P258T(1)|p.P242T(1)|p.P430T(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGTGGTCATCCCGCCCACCTG	0.677																																							uc001ncn.1		NA																	3	Substitution - Missense(3)		lung(3)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1288-1290)CCG>ACG		diacylglycerol kinase zeta isoform 4							25.0	29.0	27.0					11																	46393118		2200	4296	6496	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46393118C>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1288C>A	11.37:g.46393118C>A	ENSP00000412178:p.Pro430Thr					DGKZ_uc001nch.1_Missense_Mutation_p.P258T|DGKZ_uc010rgq.1_Missense_Mutation_p.P185T|DGKZ_uc001ncj.1_Missense_Mutation_p.P208T|DGKZ_uc010rgr.1_Missense_Mutation_p.P207T|DGKZ_uc001nck.1_Missense_Mutation_p.P20T|DGKZ_uc001ncl.2_Missense_Mutation_p.P242T|DGKZ_uc001ncm.2_Missense_Mutation_p.P241T|DGKZ_uc009yky.1_Missense_Mutation_p.P242T|DGKZ_uc010rgs.1_Missense_Mutation_p.P219T	p.P430T	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	9	1413	+			430					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1288C>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111264	0.94339	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.48522	1.51;0.81;1.74;1.8;2.68;1.54;1.57;1.73;0.84	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.78476	-0.2189	10	0.87932	D	0	.	18.8612	0.92273	0.0:1.0:0.0:0.0	.	219;207;185;242;430;241;242;208;258	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	T	258;20;208;207;242;241;242;219;430	ENSP00000343065:P258T;ENSP00000434719:P20T;ENSP00000378941:P208T;ENSP00000436273:P207T;ENSP00000436291:P242T;ENSP00000395684:P241T;ENSP00000391021:P242T;ENSP00000320340:P219T;ENSP00000412178:P430T	ENSP00000320340:P219T	P	+	1	0	DGKZ	46349694	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.813000	0.86123	2.536000	0.85505	0.561000	0.74099	CCG		0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		4	29	1	0	1.23904e-05	0.000602	1.47337e-05	4	29				
LRP4	4038	broad.mit.edu	37	11	46921855	46921855	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:46921855C>T	ENST00000378623.1	-	3	516	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	92	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.G92R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGTTGTCCCCGTCACACACC	0.522																																							uc001ndn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(274-276)GGG>AGG		low density lipoprotein receptor-related protein							128.0	112.0	117.0					11																	46921855		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921855C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.274G>A	11.37:g.46921855C>T	ENSP00000367888:p.Gly92Arg					LRP4_uc009ylh.1_Missense_Mutation_p.G43R	p.G92R	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	3	420	-			92			Extracellular (Potential).|LDL-receptor class A 2.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.274G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733035	0.89482	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.96802	-4.13;-4.13	5.63	5.63	0.86233	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.127303	0.51477	D	0.000088	D	0.98267	0.9426	M	0.82823	2.61	0.80722	D	1	P;D	0.89917	0.943;1.0	B;D	0.97110	0.319;1.0	D	0.98758	1.0723	10	0.66056	D	0.02	.	19.6834	0.95972	0.0:1.0:0.0:0.0	.	137;92	C9JRN7;O75096	.;LRP4_HUMAN	R	92;43	ENSP00000367888:G92R;ENSP00000434763:G43R	ENSP00000367888:G92R	G	-	1	0	LRP4	46878431	1.000000	0.71417	0.954000	0.39281	0.889000	0.51656	4.896000	0.63222	2.657000	0.90304	0.561000	0.74099	GGG		0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		17	123	0	0	0	0.010504	0	17	123				
OR4A47	403253	broad.mit.edu	37	11	48510574	48510574	+	Missense_Mutation	SNP	C	C	A	rs150039172		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:48510574C>A	ENST00000446524.1	+	1	306	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P77H(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCCATTTCCCCCAGATTGATT	0.433																																							uc010rhx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)CCC>CAC		olfactory receptor, family 4, subfamily A,																																				SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510574C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.230C>A	11.37:g.48510574C>A	ENSP00000412752:p.Pro77His						p.P77H	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	230	+			77			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.230C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.61	1.990714	0.35131	.	.	ENSG00000237388	ENST00000446524	T	0.25749	1.78	4.91	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.63780	0.2540	H	0.97983	4.12	0.45056	D	0.998076	D	0.89917	1.0	D	0.70487	0.969	T	0.74965	-0.3484	10	0.87932	D	0	.	11.1675	0.48552	0.0:0.9085:0.0:0.0915	.	77	Q6IF82	O4A47_HUMAN	H	77	ENSP00000412752:P77H	ENSP00000412752:P77H	P	+	2	0	OR4A47	48467150	1.000000	0.71417	0.052000	0.19188	0.012000	0.07955	7.457000	0.80775	1.045000	0.40225	0.561000	0.74099	CCC		0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		7	101	1	0	7.48243e-07	0.006214	9.3972e-07	7	101				
OR4A16	81327	broad.mit.edu	37	11	55110916	55110916	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55110916G>T	ENST00000314721.2	+	1	290	c.240G>T	c.(238-240)atG>atT	p.M80I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M80I(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCAAATTGATGATAGACTTAC	0.453																																							uc010rie.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(238-240)ATG>ATT		olfactory receptor, family 4, subfamily A,							201.0	182.0	189.0					11																	55110916		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110916G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.240G>T	11.37:g.55110916G>T	ENSP00000325128:p.Met80Ile						p.M80I	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	240	+			80			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.240G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.661651	0.00006	.	.	ENSG00000181961	ENST00000314721	T	0.00314	8.14	2.57	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00424	-1.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	9	0.02654	T	1	.	3.9268	0.09267	0.0:0.2524:0.3864:0.3612	.	80	Q8NH70	O4A16_HUMAN	I	80	ENSP00000325128:M80I	ENSP00000325128:M80I	M	+	3	0	OR4A16	54867492	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.410000	0.07151	-0.545000	0.06224	-2.643000	0.00151	ATG		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		44	185	1	0	3.77016e-25	0.003214	7.05963e-25	44	185				
OR4A15	81328	broad.mit.edu	37	11	55136382	55136382	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55136382G>A	ENST00000314706.3	+	1	1023	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	341						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L341L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGAAATGGCTGTATCACTCAT	0.363																																							uc010rif.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1021-1023)CTG>CTA		olfactory receptor, family 4, subfamily A,							71.0	72.0	72.0					11																	55136382		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136382G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.1023G>A	11.37:g.55136382G>A							p.L341L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	1023	+			341			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.1023G>A	CCDS31500.1																																																																																				0.363	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		25	95	0	0	0	0.004656	0	25	95				
OR4C16	219428	broad.mit.edu	37	11	55339919	55339919	+	Missense_Mutation	SNP	G	G	T	rs144938325		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55339919G>T	ENST00000314634.3	+	1	316	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G106C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCATGTCTTTGGCTGCCTGGA	0.483																																							uc010rih.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)GGC>TGC		olfactory receptor, family 4, subfamily C,							229.0	221.0	224.0					11																	55339919		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339919G>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.316G>T	11.37:g.55339919G>T	ENSP00000324913:p.Gly106Cys						p.G106C	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	316	+		all_epithelial(135;0.0748)	106			Helical; Name=3; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.316G>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955377	0.73902	.	.	ENSG00000181935	ENST00000314634	T	0.39056	1.1	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.68256	0.2981	M	0.91406	3.205	0.38604	D	0.950725	D	0.89917	1.0	D	0.85130	0.997	T	0.75858	-0.3169	10	0.87932	D	0	.	9.2149	0.37342	0.0963:0.0:0.9037:0.0	.	106	Q8NGL9	OR4CG_HUMAN	C	106	ENSP00000324913:G106C	ENSP00000324913:G106C	G	+	1	0	OR4C16	55096495	0.034000	0.19679	1.000000	0.80357	0.925000	0.55904	2.157000	0.42320	2.595000	0.87683	0.549000	0.68633	GGC		0.483	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		43	222	1	0	1.57945e-13	0.002852	2.53537e-13	43	222				
OR4P4	81300	broad.mit.edu	37	11	55405850	55405850	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55405850A>G	ENST00000314612.2	+	1	17	c.17A>G	c.(16-18)aAt>aGt	p.N6S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAAGCAATAATAGCACTTTG	0.323																																							uc010rij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)AAT>AGT		olfactory receptor, family 4, subfamily P,							111.0	109.0	110.0					11																	55405850		2183	4021	6204	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405850A>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.17A>G	11.37:g.55405850A>G	ENSP00000324831:p.Asn6Ser						p.N6S	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	17	+			6			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.17A>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290652	0.40494	.	.	ENSG00000181927	ENST00000314612	T	0.26957	1.7	5.02	2.71	0.32032	.	0.331275	0.21660	N	0.071029	T	0.19208	0.0461	N	0.11313	0.125	0.09310	N	1	P	0.40431	0.717	P	0.49451	0.611	T	0.05582	-1.0876	10	0.51188	T	0.08	-3.6342	7.1714	0.25721	0.7503:0.0:0.2497:0.0	.	6	Q8NGL7	OR4P4_HUMAN	S	6	ENSP00000324831:N6S	ENSP00000324831:N6S	N	+	2	0	OR4P4	55162426	0.032000	0.19561	0.006000	0.13384	0.003000	0.03518	1.430000	0.34914	0.775000	0.33450	0.509000	0.49947	AAT		0.323	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		19	167	0	0	0	0.001882	0	19	167				
OR4P4	81300	broad.mit.edu	37	11	55406188	55406188	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55406188G>T	ENST00000314612.2	+	1	355	c.355G>T	c.(355-357)Gac>Tac	p.D119Y		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D119Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGGCCTATGACCGCTATGT	0.403																																							uc010rij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(355-357)GAC>TAC		olfactory receptor, family 4, subfamily P,							95.0	82.0	87.0					11																	55406188		2180	4016	6196	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406188G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.355G>T	11.37:g.55406188G>T	ENSP00000324831:p.Asp119Tyr						p.D119Y	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	355	+			119			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.355G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631962	0.46944	.	.	ENSG00000181927	ENST00000314612	T	0.54479	0.57	5.37	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000571	T	0.81823	0.4904	H	0.98155	4.16	0.49299	D	0.999772	D	0.89917	1.0	D	0.97110	1.0	D	0.87685	0.2550	10	0.87932	D	0	-14.1341	13.0018	0.58681	0.0791:0.0:0.9209:0.0	.	119	Q8NGL7	OR4P4_HUMAN	Y	119	ENSP00000324831:D119Y	ENSP00000324831:D119Y	D	+	1	0	OR4P4	55162764	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	8.685000	0.91246	1.247000	0.43917	0.637000	0.83480	GAC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		33	114	1	0	1.74807e-11	0.002096	2.63819e-11	33	114				
OR4P4	81300	broad.mit.edu	37	11	55406302	55406302	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55406302C>G	ENST00000314612.2	+	1	469	c.469C>G	c.(469-471)Cag>Gag	p.Q157E		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q157E(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTCTGCCAGTCAGTTTCTTCT	0.398																																							uc010rij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(469-471)CAG>GAG		olfactory receptor, family 4, subfamily P,							80.0	69.0	73.0					11																	55406302		2180	4008	6188	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406302C>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.469C>G	11.37:g.55406302C>G	ENSP00000324831:p.Gln157Glu						p.Q157E	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	469	+			157			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.469C>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780215	0.31502	.	.	ENSG00000181927	ENST00000314612	T	0.00076	8.76	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.193376	0.25771	N	0.028414	T	0.00328	0.0010	M	0.64567	1.98	0.09310	N	1	D	0.60575	0.988	P	0.60949	0.881	T	0.55509	-0.8130	10	0.72032	D	0.01	-2.1503	11.8726	0.52529	0.1746:0.8254:0.0:0.0	.	157	Q8NGL7	OR4P4_HUMAN	E	157	ENSP00000324831:Q157E	ENSP00000324831:Q157E	Q	+	1	0	OR4P4	55162878	0.000000	0.05858	0.045000	0.18777	0.003000	0.03518	-0.192000	0.09587	2.494000	0.84150	0.637000	0.83480	CAG		0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		11	79	0	0	0	0.001368	0	11	79				
OR4C6	219432	broad.mit.edu	37	11	55433201	55433202	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55433201_55433202TG>CT	ENST00000314259.3	+	1	588_589	c.559_560TG>CT	c.(559-561)TGc>CTc	p.C187L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C187L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACTTGCCTGCACGGACACC	0.431																																							uc001nht.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(559-561)TGC>CTC		olfactory receptor, family 4, subfamily C,																																				SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433201_55433202TG>CT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55433201_55433202delinsCT	ENSP00000324769:p.Cys187Leu					OR4C6_uc010rik.1_Missense_Mutation_p.C187L	p.C187L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	824_825	+			187			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	DNP	ENST00000314259.3	37	c.559_560TG>CT	CCDS31506.1																																																																																				0.431	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		33	137	0	0	0	0.004672	0	33	137				
OR5D13	390142	broad.mit.edu	37	11	55541279	55541279	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55541279T>C	ENST00000361760.1	+	1	366	c.366T>C	c.(364-366)taT>taC	p.Y122Y		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y122Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CGATGGCTTATGACCGTTTTG	0.433																																							uc010ril.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(364-366)TAT>TAC		olfactory receptor, family 5, subfamily D,							235.0	228.0	230.0					11																	55541279		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541279T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.366T>C	11.37:g.55541279T>C							p.Y122Y	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	366	+		all_epithelial(135;0.196)	122			Helical; Name=3; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.366T>C	CCDS31507.1																																																																																				0.433	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		23	219	0	0	0	0.004656	0	23	219				
OR5D14	219436	broad.mit.edu	37	11	55563543	55563543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55563543C>A	ENST00000335605.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171Y(1)|p.S171F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAAACTTCTCTGGACCTAAT	0.493																																							uc010rim.1		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|central_nervous_system(1)	3						c.(511-513)TCT>TAT		olfactory receptor, family 5, subfamily D,							198.0	198.0	198.0					11																	55563543		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563543C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.512C>A	11.37:g.55563543C>A	ENSP00000334456:p.Ser171Tyr						p.S171Y	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	512	+		all_epithelial(135;0.196)	171			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.512C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	1.894	-0.454657	0.04540	.	.	ENSG00000186113	ENST00000335605	T	0.00152	8.66	5.08	-6.63	0.01807	GPCR, rhodopsin-like superfamily (1);	0.534856	0.15825	N	0.242791	T	0.00073	0.0002	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.35101	-0.9802	10	0.51188	T	0.08	-7.6052	8.4561	0.32899	0.0914:0.1485:0.6103:0.1498	.	171	Q8NGL3	OR5DE_HUMAN	Y	171	ENSP00000334456:S171Y	ENSP00000334456:S171Y	S	+	2	0	OR5D14	55320119	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.473000	0.06615	-1.317000	0.02292	-0.189000	0.12847	TCT		0.493	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		43	216	1	0	1.48734e-19	0.003214	2.66826e-19	43	216				
OR5D16	390144	broad.mit.edu	37	11	55606961	55606961	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55606961C>A	ENST00000378396.1	+	1	734	c.734C>A	c.(733-735)tCc>tAc	p.S245Y		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S245Y(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCTGTGCCTCCCACCTGACT	0.507																																							uc010rio.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(733-735)TCC>TAC		olfactory receptor, family 5, subfamily D,							150.0	128.0	135.0					11																	55606961		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606961C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.734C>A	11.37:g.55606961C>A	ENSP00000367649:p.Ser245Tyr						p.S245Y	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	734	+		all_epithelial(135;0.208)	245			Helical; Name=6; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.734C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.219303	0.79464	.	.	ENSG00000205029	ENST00000378396	T	0.39406	1.08	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.78904	0.4357	H	0.99058	4.415	0.38558	D	0.949624	D	0.89917	1.0	D	0.97110	1.0	D	0.89214	0.3566	9	0.87932	D	0	-48.6658	16.2699	0.82608	0.0:1.0:0.0:0.0	.	245	Q8NGK9	OR5DG_HUMAN	Y	245	ENSP00000367649:S245Y	ENSP00000367649:S245Y	S	+	2	0	OR5D16	55363537	0.782000	0.28689	0.968000	0.41197	0.826000	0.46750	5.563000	0.67352	2.260000	0.74910	0.537000	0.68136	TCC		0.507	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		13	116	1	0	7.93312e-07	0.00245	9.92523e-07	13	116				
TRIM51	84767	broad.mit.edu	37	11	55653030	55653030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55653030C>A	ENST00000449290.2	+	2	218	c.126C>A	c.(124-126)aaC>aaA	p.N42K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	42						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N42K(1)									TGTACCTCAACTGGCAAGACA	0.507																																							uc010rip.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)AAC>AAA		SPRY domain containing 5							36.0	31.0	32.0					11																	55653030		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653030C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.126C>A	11.37:g.55653030C>A	ENSP00000395086:p.Asn42Lys					SPRYD5_uc010riq.1_5'Flank	p.N42K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	218	+		all_epithelial(135;0.226)	42			RING-type.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.126C>A		.	.	.	.	.	.	.	.	.	.	.	2.059	-0.415744	0.04766	.	.	ENSG00000124900	ENST00000449290	T	0.07567	3.18	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.04092	0.0114	N	0.10916	0.065	0.09310	N	1	B	0.23806	0.091	B	0.29440	0.102	T	0.41893	-0.9483	9	0.30078	T	0.28	.	3.9904	0.09535	0.2209:0.5767:0.0:0.2024	.	42	Q9BSJ1	SPRY5_HUMAN	K	42	ENSP00000395086:N42K	ENSP00000395086:N42K	N	+	3	2	SPRYD5	55409606	0.904000	0.30761	0.000000	0.03702	0.027000	0.11550	1.773000	0.38563	-2.021000	0.00939	-1.353000	0.01230	AAC		0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		10	42	1	0	0.00829132	0.008291	0.00871651	10	42				
OR7E5P	219445	broad.mit.edu	37	11	55747211	55747211	+	IGR	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55747211C>A								OR10AG1 (11221 upstream) : OR5F1 (13945 downstream)														p.L82L(1)									CCATCACAGTCAGGATCATGT	0.473																																							uc010riu.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)CTG>CTT		SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor;																																				SO:0001628	intergenic_variant	219445							g.chr11:55747211C>A																													11.37:g.55747211C>A							p.L82L	NR_027688						4	801	-									Silent	SNP		37	c.246G>T																																																																																				0	0.473									4	16	1	0	2.56e-06	0.009096	3.13508e-06	4	16				
OR5AS1	219447	broad.mit.edu	37	11	55798241	55798241	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55798241C>A	ENST00000313555.1	+	1	347	c.347C>A	c.(346-348)gCa>gAa	p.A116E		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A116E(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTATCCTGGCAGCAATGGCT	0.463																																							uc010riw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(346-348)GCA>GAA		olfactory receptor, family 5, subfamily AS,							118.0	98.0	105.0					11																	55798241		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798241C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.347C>A	11.37:g.55798241C>A	ENSP00000324111:p.Ala116Glu						p.A116E	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	347	+	Esophageal squamous(21;0.00693)		116			Helical; Name=3; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.347C>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799613	0.70567	.	.	ENSG00000181785	ENST00000313555	T	0.00484	7.08	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	U	0.003776	T	0.01870	0.0059	H	0.97023	3.925	0.36469	D	0.867162	D	0.59767	0.986	P	0.50659	0.647	T	0.21075	-1.0256	10	0.87932	D	0	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	116	Q8N127	O5AS1_HUMAN	E	116	ENSP00000324111:A116E	ENSP00000324111:A116E	A	+	2	0	OR5AS1	55554817	0.915000	0.31059	1.000000	0.80357	0.509000	0.34042	3.607000	0.54102	2.557000	0.86248	0.643000	0.83706	GCA		0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		8	66	1	0	1.06961e-07	0.00308	1.40521e-07	8	66				
OR8J3	81168	broad.mit.edu	37	11	55904794	55904794	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55904794A>G	ENST00000301529.1	-	1	400	c.401T>C	c.(400-402)gTg>gCg	p.V134A		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V134A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGACACCACCACCATGTAGAG	0.498																																							uc010riz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(400-402)GTG>GCG		olfactory receptor, family 8, subfamily J,							129.0	122.0	124.0					11																	55904794		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904794A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.401T>C	11.37:g.55904794A>G	ENSP00000301529:p.Val134Ala						p.V134A	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	401	-	Esophageal squamous(21;0.00693)		134			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.401T>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	9.716	1.158365	0.21454	.	.	ENSG00000167822	ENST00000301529	T	0.00612	6.22	3.26	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.331824	0.25978	N	0.027081	T	0.00496	0.0016	N	0.26042	0.785	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.48198	-0.9056	10	0.42905	T	0.14	.	3.4812	0.07603	0.4203:0.0:0.3968:0.1829	.	134	Q8NGG0	OR8J3_HUMAN	A	134	ENSP00000301529:V134A	ENSP00000301529:V134A	V	-	2	0	OR8J3	55661370	0.000000	0.05858	0.044000	0.18714	0.724000	0.41520	-0.518000	0.06267	0.302000	0.22762	0.240000	0.17902	GTG		0.498	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		11	116	0	0	0	0.006122	0	11	116				
OR8K5	219453	broad.mit.edu	37	11	55926935	55926935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55926935G>T	ENST00000313447.1	-	1	858	c.859C>A	c.(859-861)Cct>Act	p.P287T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAAATCAAAGGGTTAAGCATG	0.343																																							uc010rja.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(859-861)CCT>ACT		olfactory receptor, family 8, subfamily K,							87.0	79.0	82.0					11																	55926935		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926935G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.859C>A	11.37:g.55926935G>T	ENSP00000323853:p.Pro287Thr						p.P287T	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	859	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	287			Helical; Name=7; (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.859C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476642	0.63737	.	.	ENSG00000181752	ENST00000313447	T	0.63913	-0.07	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	D	0.86289	0.5897	H	0.99758	4.755	0.38173	D	0.939391	D	0.65815	0.995	P	0.58970	0.849	D	0.93219	0.6607	10	0.87932	D	0	.	14.3094	0.66405	0.0:0.0:1.0:0.0	.	287	Q8NH50	OR8K5_HUMAN	T	287	ENSP00000323853:P287T	ENSP00000323853:P287T	P	-	1	0	OR8K5	55683511	1.000000	0.71417	0.993000	0.49108	0.832000	0.47134	6.502000	0.73695	2.154000	0.67381	0.465000	0.42564	CCT		0.343	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		11	75	1	0	5.16669e-11	0.000978	7.69141e-11	11	75				
OR5J2	282775	broad.mit.edu	37	11	55944330	55944330	+	Silent	SNP	C	C	A	rs35777813		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55944330C>A	ENST00000312298.1	+	1	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79P(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CAATTGCACCCAAAATGCTGG	0.443																																							uc010rjb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(235-237)CCC>CCA		olfactory receptor, family 5, subfamily J,							181.0	151.0	161.0					11																	55944330		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944330C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.237C>A	11.37:g.55944330C>A							p.P79P	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	237	+	Esophageal squamous(21;0.00693)		79			Extracellular (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.237C>A	CCDS31522.1																																																																																				0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		22	210	1	0	2.37509e-13	0.010504	3.79398e-13	22	210				
OR5J2	282775	broad.mit.edu	37	11	55944912	55944912	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55944912G>T	ENST00000312298.1	+	1	819	c.819G>T	c.(817-819)gtG>gtT	p.V273V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAGAGAAAGTGGTTTCTATGT	0.428																																							uc010rjb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(817-819)GTG>GTT		olfactory receptor, family 5, subfamily J,							112.0	114.0	113.0					11																	55944912		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944912G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.819G>T	11.37:g.55944912G>T							p.V273V	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	819	+	Esophageal squamous(21;0.00693)		273			Helical; Name=7; (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.819G>T	CCDS31522.1																																																																																				0.428	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		30	84	1	0	6.38683e-12	0.008361	9.78916e-12	30	84				
OR9I1	219954	broad.mit.edu	37	11	57886814	57886814	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57886814A>G	ENST00000302610.1	-	1	102	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y35H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTGACTAGGTAGAAACTCAGA	0.453																																							uc001nml.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(103-105)TAC>CAC		olfactory receptor, family 9, subfamily I,							98.0	87.0	91.0					11																	57886814		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886814A>G	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.103T>C	11.37:g.57886814A>G	ENSP00000302606:p.Tyr35His					OR9Q1_uc001nmj.2_Intron	p.Y35H	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	103	-		Breast(21;0.0589)	35			Helical; Name=1; (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.103T>C	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269650	0.40095	.	.	ENSG00000172377	ENST00000302610	T	0.04654	3.58	5.23	5.23	0.72850	.	0.000000	0.44097	D	0.000493	T	0.26376	0.0644	M	0.89214	3.015	0.34082	D	0.659665	D	0.76494	0.999	D	0.85130	0.997	T	0.47886	-0.9082	10	0.87932	D	0	-21.1358	14.3894	0.66968	1.0:0.0:0.0:0.0	.	35	Q8NGQ6	OR9I1_HUMAN	H	35	ENSP00000302606:Y35H	ENSP00000302606:Y35H	Y	-	1	0	OR9I1	57643390	1.000000	0.71417	0.728000	0.30774	0.092000	0.18411	8.415000	0.90241	2.333000	0.79357	0.482000	0.46254	TAC		0.453	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		13	84	0	0	0	0.001855	0	13	84				
OR1S2	219958	broad.mit.edu	37	11	57970994	57970994	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57970994G>C	ENST00000302592.6	-	1	659	c.660C>G	c.(658-660)atC>atG	p.I220M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I220M(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGGGAAGATGATAACTGATA	0.448																																							uc010rkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)ATC>ATG		olfactory receptor, family 1, subfamily S,							184.0	157.0	166.0					11																	57970994		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970994G>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.660C>G	11.37:g.57970994G>C	ENSP00000305469:p.Ile220Met						p.I220M	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	660	-		Breast(21;0.0589)	220			Helical; Name=5; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.660C>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583121	0.28268	.	.	ENSG00000197887	ENST00000302592	T	0.38077	1.16	4.75	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.267149	0.26248	N	0.025464	T	0.42921	0.1224	L	0.49571	1.57	0.09310	N	1	D	0.61080	0.989	P	0.62491	0.903	T	0.13045	-1.0524	10	0.29301	T	0.29	.	5.7897	0.18353	0.2956:0.0:0.7044:0.0	.	220	Q8NGQ3	OR1S2_HUMAN	M	220	ENSP00000305469:I220M	ENSP00000305469:I220M	I	-	3	3	OR1S2	57727570	0.000000	0.05858	0.137000	0.22149	0.871000	0.50021	-0.090000	0.11163	1.355000	0.45865	0.655000	0.94253	ATC		0.448	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		14	62	0	0	0	0.00499	0	14	62				
OR1S2	219958	broad.mit.edu	37	11	57971380	57971380	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57971380G>T	ENST00000302592.6	-	1	273	c.274C>A	c.(274-276)Ccc>Acc	p.P92T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P92T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCATTTTGGGGACTGAGTTG	0.423																																							uc010rkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(274-276)CCC>ACC		olfactory receptor, family 1, subfamily S,							186.0	175.0	179.0					11																	57971380		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971380G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.274C>A	11.37:g.57971380G>T	ENSP00000305469:p.Pro92Thr						p.P92T	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	274	-		Breast(21;0.0589)	92			Helical; Name=2; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.274C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050600	0.75960	.	.	ENSG00000197887	ENST00000302592	T	0.01854	4.6	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000251	T	0.23965	0.0580	H	0.98802	4.335	0.51482	D	0.99992	D	0.71674	0.998	D	0.66084	0.941	T	0.51616	-0.8683	10	0.87932	D	0	.	16.2399	0.82401	0.0:0.0:1.0:0.0	.	92	Q8NGQ3	OR1S2_HUMAN	T	92	ENSP00000305469:P92T	ENSP00000305469:P92T	P	-	1	0	OR1S2	57727956	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	7.483000	0.81158	2.481000	0.83766	0.655000	0.94253	CCC		0.423	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		32	153	1	0	4.74835e-14	0.002096	7.70384e-14	32	153				
OR5B12	390191	broad.mit.edu	37	11	58207340	58207340	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:58207340A>C	ENST00000302572.2	-	1	306	c.285T>G	c.(283-285)tgT>tgG	p.C95W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95W(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTGTGTGGCACAAGCATTAT	0.458																																							uc010rkh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(283-285)TGT>TGG		olfactory receptor, family 5, subfamily B,							81.0	76.0	78.0					11																	58207340		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207340A>C	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.285T>G	11.37:g.58207340A>C	ENSP00000306657:p.Cys95Trp						p.C95W	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	285	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	95			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.285T>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378378	0.24944	.	.	ENSG00000172362	ENST00000302572	T	0.00551	6.65	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.05227	0.0139	H	0.99689	4.705	0.58432	D	0.999998	D	0.71674	0.998	D	0.74023	0.982	T	0.00048	-1.2206	10	0.87932	D	0	-2.0849	9.9991	0.41918	0.9168:0.0:0.0832:0.0	.	95	Q96R08	OR5BC_HUMAN	W	95	ENSP00000306657:C95W	ENSP00000306657:C95W	C	-	3	2	OR5B12	57963916	0.006000	0.16342	0.673000	0.29887	0.005000	0.04900	0.228000	0.17814	2.118000	0.64928	0.460000	0.39030	TGT		0.458	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		26	77	0	0	0	0.005443	0	26	77				
CD5	921	broad.mit.edu	37	11	60885946	60885946	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:60885946T>A	ENST00000347785.3	+	3	560	c.394T>A	c.(394-396)Tgc>Agc	p.C132S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	132	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.C132S(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGGCCTGACCTGCTTAGGTGG	0.607																																							uc009ynk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)TGC>AGC		CD5 molecule precursor							97.0	91.0	93.0					11																	60885946		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885946T>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.394T>A	11.37:g.60885946T>A	ENSP00000342681:p.Cys132Ser						p.C132S	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	497	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	132			Extracellular (Potential).|SRCR 1.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.394T>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.148932	0.57151	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	D;D	0.95447	-3.71;-3.71	3.85	3.85	0.44370	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.341661	0.25680	N	0.029008	D	0.96071	0.8720	L	0.49126	1.545	0.44439	D	0.997364	D	0.89917	1.0	D	0.91635	0.999	D	0.95590	0.8654	10	0.72032	D	0.01	-34.7168	9.3456	0.38107	0.0:0.0:0.0:1.0	.	132	P06127	CD5_HUMAN	S	132	ENSP00000342681:C132S;ENSP00000440899:C132S	ENSP00000342681:C132S	C	+	1	0	CD5	60642522	1.000000	0.71417	0.989000	0.46669	0.485000	0.33311	2.963000	0.49184	1.983000	0.57843	0.533000	0.62120	TGC		0.607	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		22	85	0	0	0	0.002445	0	22	85				
ARL2	402	broad.mit.edu	37	11	64789247	64789247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:64789247G>A	ENST00000246747.4	+	5	570	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ARL2_ENST00000533729.1_Missense_Mutation_p.A132T|ARL2_ENST00000529384.1_Missense_Mutation_p.A159T|RP11-399J13.3_ENST00000301886.3_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	159					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.A159T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGGCTGCAGCGCCGTCACCGG	0.627																																							uc001och.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GCC>ACC		ADP-ribosylation factor-like 2							56.0	49.0	51.0					11																	64789247		2201	4297	6498	SO:0001583	missense	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64789247G>A	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.475G>A	11.37:g.64789247G>A	ENSP00000246747:p.Ala159Thr					SNX15_uc001oci.3_Intron	p.A159T	NM_001667	NP_001658	P36404	ARL2_HUMAN			5	569	+			159					G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	c.475G>A	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153338	0.94645	.	.	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	D;D;D	0.91351	-2.83;-2.83;-2.83	4.5	4.5	0.54988	.	0.000000	0.85682	U	0.000000	D	0.96222	0.8768	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	D	0.97253	0.9899	10	0.87932	D	0	-17.1644	14.7471	0.69496	0.0:0.0:1.0:0.0	.	159	P36404	ARL2_HUMAN	T	159;159;132	ENSP00000246747:A159T;ENSP00000436021:A159T;ENSP00000432971:A132T	ENSP00000246747:A159T	A	+	1	0	ARL2	64545823	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	8.981000	0.93465	2.343000	0.79666	0.484000	0.47621	GCC		0.627	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	60	0	0	0	0.006214	0	8	60				
OVOL1	5017	broad.mit.edu	37	11	65554911	65554911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65554911C>A	ENST00000335987.3	+	1	419	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000527453.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P23T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GAGCGAGCTCCCCGACGAGGA	0.716																																							uc001ofp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(67-69)CCC>ACC		OVO-like 1 binding protein							29.0	29.0	29.0					11																	65554911		2192	4285	6477	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65554911C>A	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.67C>A	11.37:g.65554911C>A	ENSP00000337862:p.Pro23Thr						p.P23T	NM_004561	NP_004552	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	1	383	+			23					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.67C>A	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768133	0.69878	.	.	ENSG00000172818	ENST00000335987	T	0.08984	3.03	3.49	3.49	0.39957	.	0.000000	0.49305	U	0.000144	T	0.19005	0.0456	L	0.60845	1.875	0.80722	D	1	D	0.64830	0.994	P	0.57502	0.822	T	0.01036	-1.1473	10	0.66056	D	0.02	-23.987	12.5058	0.55979	0.0:1.0:0.0:0.0	.	23	O14753	OVOL1_HUMAN	T	23	ENSP00000337862:P23T	ENSP00000337862:P23T	P	+	1	0	OVOL1	65311487	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.819000	0.48049	1.503000	0.48686	0.442000	0.29010	CCC		0.716	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		3	6	1	0	0.004672	0.004672	0.00494328	3	6				
CATSPER1	117144	broad.mit.edu	37	11	65793261	65793261	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65793261G>T	ENST00000312106.5	-	1	727	c.590C>A	c.(589-591)tCc>tAc	p.S197Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	197	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S197Y(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTAAGGTGGGAAGCCTCGCT	0.637																																							uc001ogt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(589-591)TCC>TAC		sperm-associated cation channel 1							80.0	72.0	75.0					11																	65793261		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793261G>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.590C>A	11.37:g.65793261G>T	ENSP00000309052:p.Ser197Tyr						p.S197Y	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	728	-			197			His-rich.|Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.590C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863659	0.00552	.	.	ENSG00000175294	ENST00000312106	D	0.97232	-4.3	3.17	-6.31	0.02001	.	.	.	.	.	D	0.91168	0.7218	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.81145	-0.1066	9	0.56958	D	0.05	.	7.0965	0.25313	0.2401:0.0:0.5755:0.1845	.	197	Q8NEC5	CTSR1_HUMAN	Y	197	ENSP00000309052:S197Y	ENSP00000309052:S197Y	S	-	2	0	CATSPER1	65549837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-0.837000	0.04223	-1.510000	0.00946	TCC		0.637	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		22	71	1	0	1.40151e-16	0.010504	2.39841e-16	22	71				
NPAS4	266743	broad.mit.edu	37	11	66190662	66190662	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:66190662C>A	ENST00000311034.2	+	5	943	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	256	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.P256H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGCTGCACCCCGAGGACCTG	0.557																																							uc001ohx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(766-768)CCC>CAC		neuronal PAS domain protein 4							110.0	83.0	92.0					11																	66190662		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190662C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.767C>A	11.37:g.66190662C>A	ENSP00000311196:p.Pro256His					NPAS4_uc010rpc.1_Intron	p.P256H	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			5	943	+			256			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.767C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857638	0.91433	.	.	ENSG00000174576	ENST00000311034	T	0.27890	1.64	5.65	5.65	0.86999	PAS fold-3 (1);PAS (2);	0.000000	0.53938	D	0.000043	T	0.58807	0.2148	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62001	-0.6946	10	0.87932	D	0	-9.6421	17.2303	0.86983	0.0:1.0:0.0:0.0	.	256	Q8IUM7	NPAS4_HUMAN	H	256	ENSP00000311196:P256H	ENSP00000311196:P256H	P	+	2	0	NPAS4	65947238	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.148000	0.77389	2.661000	0.90470	0.650000	0.86243	CCC		0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		7	26	1	0	8.12818e-05	0.001984	9.2732e-05	7	26				
KDM2A	22992	broad.mit.edu	37	11	66947681	66947681	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:66947681A>C	ENST00000529006.2	+	3	620	c.174A>C	c.(172-174)gaA>gaC	p.E58D	KDM2A_ENST00000398645.2_Missense_Mutation_p.E58D	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	58					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E58D(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTTTTATGGAAGGAAAAGGTC	0.373																																							uc001ojw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(172-174)GAA>GAC		F-box and leucine-rich repeat protein 11							103.0	100.0	101.0					11																	66947681		1866	4097	5963	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	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|zinc ion binding	g.chr11:66947681A>C	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.174A>C	11.37:g.66947681A>C	ENSP00000432786:p.Glu58Asp					KDM2A_uc001ojx.2_RNA	p.E58D	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			3	1038	+			58					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.174A>C	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774949	0.49786	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.44482	0.92;2.21	5.55	-4.91	0.03085	.	0.309320	0.34268	N	0.004112	T	0.20941	0.0504	N	0.12831	0.26	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09207	-1.0685	10	0.16896	T	0.51	-16.1373	17.1327	0.86730	0.1933:0.0:0.8067:0.0	.	58	Q9Y2K7	KDM2A_HUMAN	D	58	ENSP00000381640:E58D;ENSP00000432786:E58D	ENSP00000381640:E58D	E	+	3	2	KDM2A	66704257	0.230000	0.23740	0.974000	0.42286	0.998000	0.95712	-0.552000	0.06020	-0.702000	0.05056	0.533000	0.62120	GAA		0.373	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		4	34	0	0	0	0.009096	0	4	34				
TBX10	347853	broad.mit.edu	37	11	67402363	67402363	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:67402363T>C	ENST00000335385.3	-	3	388	c.301A>G	c.(301-303)Aag>Gag	p.K101E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	101			K -> T (in dbSNP:rs3758938).		anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K101E(1)		endometrium(2)|lung(4)|ovary(1)	7						CCCAGGATCTTCACCTGGAAG	0.672																																							uc001omp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(301-303)AAG>GAG		T-box 10							53.0	54.0	54.0					11																	67402363		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402363T>C	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.301A>G	11.37:g.67402363T>C	ENSP00000335191:p.Lys101Glu						p.K101E	NM_005995	NP_005986	O75333	TBX10_HUMAN			3	389	-			101			T-box.		Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.301A>G	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.474539	0.43942	.	.	ENSG00000167800	ENST00000335385	D	0.87809	-2.3	5.3	2.91	0.33838	p53-like transcription factor, DNA-binding (1);	0.078492	0.50627	D	0.000111	D	0.91680	0.7370	M	0.83012	2.62	0.40124	D	0.976635	D	0.56035	0.974	P	0.58331	0.837	D	0.91398	0.5141	10	0.87932	D	0	.	11.4603	0.50206	0.0:0.0:0.2864:0.7136	.	101	O75333	TBX10_HUMAN	E	101	ENSP00000335191:K101E	ENSP00000335191:K101E	K	-	1	0	TBX10	67158939	1.000000	0.71417	0.937000	0.37676	0.014000	0.08584	4.650000	0.61440	0.307000	0.22880	-0.460000	0.05396	AAG		0.672	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		8	96	0	0	0	0.004482	0	8	96				
DHCR7	1717	broad.mit.edu	37	11	71150017	71150017	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:71150017C>G	ENST00000355527.3	-	7	1015	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	DHCR7_ENST00000407721.2_Missense_Mutation_p.A247P	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	247			A -> V (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:9653161}.		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.A247P(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGGGTCCAGGCGACGATCCCG	0.552									Smith-Lemli-Opitz syndrome																														uc001oqk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(739-741)GCC>CCC		7-dehydrocholesterol reductase	NADH(DB00157)						92.0	86.0	88.0					11																	71150017		2200	4294	6494	SO:0001583	missense	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.chr11:71150017C>G	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.739G>C	11.37:g.71150017C>G	ENSP00000347717:p.Ala247Pro					DHCR7_uc001oql.2_Missense_Mutation_p.A247P	p.A247P	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			7	989	-			247		A -> V (in SLOS).			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.739G>C	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.932310|4.932310	0.92389|0.92389	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000525137;ENST00000527316|ENST00000534795	D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.104881|.	0.64402|.	D|.	0.000004|.	T|T	0.78317|0.78317	0.4264|0.4264	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	T|T	0.81653|0.81653	-0.0835|-0.0835	10|5	0.48119|.	T|.	0.1|.	-25.733|-25.733	15.0962|15.0962	0.72235|0.72235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247|.	Q9UBM7|.	DHCR7_HUMAN|.	P|P	247;247;36;215|32	ENSP00000384739:A247P;ENSP00000347717:A247P;ENSP00000435956:A36P;ENSP00000435047:A215P|.	ENSP00000347717:A247P|.	A|R	-|-	1|2	0|0	DHCR7|DHCR7	70827665|70827665	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.972000|0.972000	0.66771|0.66771	6.711000|6.711000	0.74675|0.74675	2.217000|2.217000	0.71921|0.71921	0.478000|0.478000	0.44815|0.44815	GCC|CGC		0.552	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		11	90	0	0	0	0.000978	0	11	90				
C2CD3	26005	broad.mit.edu	37	11	73814209	73814209	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:73814209C>G	ENST00000334126.7	-	14	2773	c.2547G>C	c.(2545-2547)tgG>tgC	p.W849C	C2CD3_ENST00000313663.7_Missense_Mutation_p.W849C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	849					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.W849C(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGTTGTGCCCCATGCGATGA	0.383																																							uc001ouu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(2545-2547)TGG>TGC		C2 calcium-dependent domain containing 3							151.0	149.0	150.0					11																	73814209		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814209C>G	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2547G>C	11.37:g.73814209C>G	ENSP00000334379:p.Trp849Cys						p.W849C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			14	2774	-	Breast(11;4.16e-06)		849					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2547G>C		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628905	0.87560	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	D;D	0.95482	-3.72;-3.72	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97943	1.0327	10	0.87932	D	0	-5.1742	19.833	0.96643	0.0:1.0:0.0:0.0	.	849	Q4AC94-1	.	C	849	ENSP00000334379:W849C;ENSP00000323339:W849C	ENSP00000323339:W849C	W	-	3	0	C2CD3	73491857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.788000	0.95919	0.637000	0.83480	TGG		0.383	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		45	187	0	0	0	0.00361	0	45	187				
OR2AT4	341152	broad.mit.edu	37	11	74799863	74799863	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:74799863T>A	ENST00000305159.3	-	1	936	c.896A>T	c.(895-897)aAc>aTc	p.N299I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N299I(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TACATCCCTGTTTCTCAGCGT	0.488																																							uc010rro.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(895-897)AAC>ATC		olfactory receptor, family 2, subfamily AT,							151.0	129.0	136.0					11																	74799863		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74799863T>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.896A>T	11.37:g.74799863T>A	ENSP00000304846:p.Asn299Ile						p.N299I	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	896	-			299			Cytoplasmic (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.896A>T	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175810	0.57692	.	.	ENSG00000171561	ENST00000305159	T	0.48836	0.8	5.08	5.08	0.68730	.	.	.	.	.	T	0.74566	0.3733	H	0.97051	3.93	0.37017	D	0.896031	D	0.69078	0.997	P	0.57960	0.83	D	0.86171	0.1600	9	0.87932	D	0	.	13.1106	0.59270	0.0:0.0:0.0:1.0	.	299	A6NND4	O2AT4_HUMAN	I	299	ENSP00000304846:N299I	ENSP00000304846:N299I	N	-	2	0	OR2AT4	74477511	0.999000	0.42202	0.992000	0.48379	0.816000	0.46133	2.914000	0.48797	2.034000	0.60081	0.528000	0.53228	AAC		0.488	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		31	109	0	0	0	0.003271	0	31	109				
INTS4	92105	broad.mit.edu	37	11	77671418	77671419	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:77671418_77671419CC>AA	ENST00000534064.1	-	6	710_711	c.676_677GG>TT	c.(676-678)GGa>TTa	p.G226L	INTS4_ENST00000529807.1_Missense_Mutation_p.G226L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	226					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.G226L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TAATTTCAGTCCTCTTTCATGG	0.396																																							uc001oys.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(676-678)GGA>TTA		integrator complex subunit 4																																				SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77671418_77671419CC>AA	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.676_677delinsAA	11.37:g.77671418_77671419delinsAA	ENSP00000434466:p.Gly226Leu					INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.G226L	p.G226L	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		6	704_705	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		226			HEAT 3.		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	DNP	ENST00000534064.1	37	c.676_677GG>TT	CCDS31644.1																																																																																				0.396	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		8	87	0	0	0	0.004672	0	8	87				
TENM4	26011	broad.mit.edu	37	11	78413441	78413441	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:78413441A>T	ENST00000278550.7	-	28	4679	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1406					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.L1406Q(2)									GGGCCACTCCAGGTGAACCTG	0.493																																							uc001ozl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(4216-4218)CTG>CAG		odz, odd Oz/ten-m homolog 4							119.0	116.0	117.0					11																	78413441		2015	4201	6216	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78413441A>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4217T>A	11.37:g.78413441A>T	ENSP00000278550:p.Leu1406Gln					ODZ4_uc009yvb.1_5'UTR	p.L1406Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	4680	-			1406			Extracellular (Potential).|NHL 4.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4217T>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152617	0.78001	.	.	ENSG00000149256	ENST00000278550	D	0.91686	-2.89	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97495	0.9180	H	0.96970	3.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98832	1.0751	9	.	.	.	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	1406	Q6N022	TEN4_HUMAN	Q	1406	ENSP00000278550:L1406Q	.	L	-	2	0	ODZ4	78091089	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.065000	0.93941	2.324000	0.78689	0.533000	0.62120	CTG		0.493	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			18	173	0	0	0	0.007413	0	18	173				
TENM4	26011	broad.mit.edu	37	11	78437147	78437147	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:78437147T>A	ENST00000278550.7	-	23	3989	c.3527A>T	c.(3526-3528)cAt>cTt	p.H1176L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1176					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.H1176L(2)									GAGGGCATGATGTTTGTCTAG	0.468																																							uc001ozl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(3526-3528)CAT>CTT		odz, odd Oz/ten-m homolog 4							316.0	307.0	310.0					11																	78437147		1944	4143	6087	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78437147T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3527A>T	11.37:g.78437147T>A	ENSP00000278550:p.His1176Leu						p.H1176L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			23	3990	-			1176			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3527A>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961691	0.92791	.	.	ENSG00000149256	ENST00000278550	D	0.92805	-3.11	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.96124	0.9087	9	.	.	.	.	15.4479	0.75248	0.0:0.0:0.0:1.0	.	1176	Q6N022	TEN4_HUMAN	L	1176	ENSP00000278550:H1176L	.	H	-	2	0	ODZ4	78114795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.228000	0.72767	0.533000	0.62120	CAT		0.468	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			111	380	0	0	0	0.00361	0	111	380				
TMEM135	65084	broad.mit.edu	37	11	86802403	86802403	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:86802403G>T	ENST00000305494.5	+	4	401		c.e4-1		TMEM135_ENST00000535167.1_Intron|TMEM135_ENST00000340353.7_Splice_Site|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Splice_Site	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135						peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTATTTGCAGGAGAGGGCTG	0.269																																							uc001pch.2		NA																	1	Unknown(1)		lung(1)		0						c.e4-1		transmembrane protein 135							91.0	94.0	93.0					11																	86802403		2201	4295	6496	SO:0001630	splice_region_variant	65084					integral to membrane		g.chr11:86802403G>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.363-1G>T	11.37:g.86802403G>T						TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Splice_Site_p.R121_splice|TMEM135_uc001pcg.1_Splice_Site_p.R121_splice	p.R121_splice	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			4	386	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)						Q6AW91|Q8ND01|Q9H6M3	Splice_Site	SNP	ENST00000305494.5	37	c.363_splice	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744993	0.69418	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9758	0.71269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM135	86480051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.096000	0.64535	2.601000	0.87937	0.467000	0.42956	.		0.269	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	Intron	6	37	1	0	0.00307968	0.00308	0.00327966	6	37				
GRM5	2915	broad.mit.edu	37	11	88330421	88330421	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:88330421T>C	ENST00000305447.4	-	5	1643	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E	GRM5_ENST00000305432.5_Silent_p.E498E|GRM5_ENST00000455756.2_Silent_p.E498E|GRM5_ENST00000393297.1_Silent_p.E498E|GRM5_ENST00000418177.2_Silent_p.E498E	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	498					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.E498E(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGGACCATACTTCATCATCAT	0.343																																							uc001pcq.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1492-1494)GAA>GAG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						222.0	182.0	196.0					11																	88330421		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88330421T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1494A>G	11.37:g.88330421T>C						GRM5_uc009yvm.2_Silent_p.E498E	p.E498E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			5	1694	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	498			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.1494A>G	CCDS44694.1																																																																																				0.343	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		18	62	0	0	0	0.00278	0	18	62				
FOLH1B	219595	broad.mit.edu	37	11	89403612	89403612	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89403612G>A	ENST00000532352.1	+	0	963							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.V50V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTACAATGTGATAGGTACTC	0.358																																							uc001pda.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(148-150)GTG>GTA		folate hydrolase 1B							190.0	150.0	164.0					11																	89403612		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403612G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403612G>A							p.V50V	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			4	676	+			50						Silent	SNP	ENST00000532352.1	37	c.150G>A																																																																																					0.358	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	87	0	0	0	0.000978	0	10	87				
FOLH1B	219595	broad.mit.edu	37	11	89424067	89424067	+	RNA	SNP	C	C	A	rs145208476		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89424067C>A	ENST00000532352.1	+	0	1530							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.S239R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACAAATTCAGCGGCTATCCAC	0.333																																							uc001pda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(715-717)AGC>AGA		folate hydrolase 1B							55.0	63.0	60.0					11																	89424067		2201	4297	6498			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424067C>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424067C>A							p.S239R	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1243	+			239						Missense_Mutation	SNP	ENST00000532352.1	37	c.717C>A																																																																																					0.333	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		8	42	1	0	3.86212e-05	0.008291	4.46834e-05	8	42				
NAALAD2	10003	broad.mit.edu	37	11	89882210	89882210	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89882210G>T	ENST00000534061.1	+	4	648	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G140C|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G140C|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G140C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	140					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.G140C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACCACCAGATGGCTATGAGAA	0.308																																							uc001pdf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(418-420)GGC>TGC		N-acetylated alpha-linked acidic dipeptidase 2							93.0	96.0	95.0					11																	89882210		2201	4296	6497	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882210G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.418G>T	11.37:g.89882210G>T	ENSP00000432481:p.Gly140Cys					NAALAD2_uc009yvx.2_Missense_Mutation_p.G140C|NAALAD2_uc009yvy.2_Missense_Mutation_p.G140C|NAALAD2_uc001pdd.2_Missense_Mutation_p.G140C|NAALAD2_uc001pde.2_Missense_Mutation_p.G140C	p.G140C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			4	527	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	140			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.418G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207024	0.79127	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.72637	0.3485	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	0.989;0.977;0.986;1.0;0.989	P;P;P;D;P	0.91635	0.769;0.769;0.743;0.999;0.769	T	0.74748	-0.3560	9	.	.	.	-19.3272	19.1945	0.93681	0.0:0.0:1.0:0.0	.	140;140;140;140;140	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	140;140;140;140;86	ENSP00000432481:G140C;ENSP00000320083:G140C;ENSP00000435249:G140C;ENSP00000365111:G140C;ENSP00000435670:G86C	.	G	+	1	0	NAALAD2	89521858	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	8.574000	0.90763	2.525000	0.85131	0.552000	0.68991	GGC		0.308	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		24	149	1	0	6.32553e-13	0.004656	1.00311e-12	24	149				
NAALAD2	10003	broad.mit.edu	37	11	89907012	89907012	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89907012G>T	ENST00000534061.1	+	14	1661	c.1431G>T	c.(1429-1431)ggG>ggT	p.G477G	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.G444G	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	477	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.G477G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGATGATGGGTTTGAGAGTA	0.353																																							uc001pdf.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1429-1431)GGG>GGT		N-acetylated alpha-linked acidic dipeptidase 2							111.0	116.0	114.0					11																	89907012		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89907012G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1431G>T	11.37:g.89907012G>T						NAALAD2_uc009yvx.2_Silent_p.G444G|NAALAD2_uc009yvy.2_Intron	p.G477G	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			14	1540	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	477			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1431G>T	CCDS8288.1																																																																																				0.353	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		24	95	1	0	7.92952e-12	0.003954	1.20878e-11	24	95				
GPR83	10888	broad.mit.edu	37	11	94129655	94129655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94129655C>A	ENST00000243673.2	-	2	594	c.423G>T	c.(421-423)aaG>aaT	p.K141N	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	141					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.K141N(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCACATGCCCTTCCCAAATA	0.552																																							uc001pet.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(421-423)AAG>AAT		G protein-coupled receptor 83 precursor							152.0	115.0	128.0					11																	94129655		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94129655C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.423G>T	11.37:g.94129655C>A	ENSP00000243673:p.Lys141Asn						p.K141N	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			2	595	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	141			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.423G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960010	0.74016	.	.	ENSG00000123901	ENST00000243673	T	0.72505	-0.66	5.44	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.048806	0.85682	D	0.000000	T	0.71962	0.3402	L	0.38953	1.18	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.65903	-0.6055	10	0.37606	T	0.19	.	8.3976	0.32566	0.0:0.6564:0.0:0.3436	.	141	Q9NYM4	GPR83_HUMAN	N	141	ENSP00000243673:K141N	ENSP00000243673:K141N	K	-	3	2	GPR83	93769303	0.979000	0.34478	0.998000	0.56505	0.985000	0.73830	0.359000	0.20233	-0.064000	0.13043	-0.266000	0.10368	AAG		0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		23	80	1	0	1.64293e-13	0.00333	2.62869e-13	23	80				
KDM4D	55693	broad.mit.edu	37	11	94731346	94731346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94731346G>T	ENST00000335080.5	+	3	1642	c.810G>T	c.(808-810)gaG>gaT	p.E270D	KDM4D_ENST00000536741.1_Missense_Mutation_p.E270D	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	270	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E270D(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGCTGGAGAGTTCATGGTGA	0.522																																							uc001pfe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GAG>GAT		jumonji domain containing 2D							72.0	74.0	73.0					11																	94731346		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731346G>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.810G>T	11.37:g.94731346G>T	ENSP00000334181:p.Glu270Asp						p.E270D	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1642	+			270			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.810G>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433518	0.62955	.	.	ENSG00000186280	ENST00000335080	T	0.63417	-0.04	3.73	3.73	0.42828	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	U	0.000002	T	0.76608	0.4011	M	0.82716	2.605	0.44110	D	0.99688	D	0.71674	0.998	D	0.87578	0.998	T	0.78365	-0.2232	10	0.87932	D	0	-32.3154	7.3275	0.26563	0.1161:0.0:0.8839:0.0	.	270	Q6B0I6	KDM4D_HUMAN	D	270	ENSP00000334181:E270D	ENSP00000334181:E270D	E	+	3	2	KDM4D	94370994	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	1.871000	0.39539	2.390000	0.81377	0.462000	0.41574	GAG		0.522	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		13	120	1	0	2.89027e-11	0.002299	4.31894e-11	13	120				
KDM4D	55693	broad.mit.edu	37	11	94731482	94731482	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94731482A>T	ENST00000335080.5	+	3	1778	c.946A>T	c.(946-948)Agg>Tgg	p.R316W	KDM4D_ENST00000536741.1_Missense_Mutation_p.R316W	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	316					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R316W(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGGGAGGCAAGGGTGACCTT	0.542																																							uc001pfe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(946-948)AGG>TGG		jumonji domain containing 2D							74.0	75.0	75.0					11																	94731482		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731482A>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.946A>T	11.37:g.94731482A>T	ENSP00000334181:p.Arg316Trp						p.R316W	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1778	+			316					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.946A>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939321	0.52972	.	.	ENSG00000186280	ENST00000335080	T	0.30448	1.53	3.73	-1.42	0.08913	.	0.140040	0.44902	U	0.000418	T	0.33673	0.0871	L	0.32530	0.975	0.31145	N	0.706191	D	0.76494	0.999	D	0.64877	0.93	T	0.34304	-0.9834	10	0.72032	D	0.01	-11.3408	6.9851	0.24723	0.4241:0.4829:0.0931:0.0	.	316	Q6B0I6	KDM4D_HUMAN	W	316	ENSP00000334181:R316W	ENSP00000334181:R316W	R	+	1	2	KDM4D	94371130	0.727000	0.28069	0.017000	0.16124	0.825000	0.46686	1.552000	0.36244	-0.264000	0.09365	0.379000	0.24179	AGG		0.542	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		17	120	0	0	0	0.006122	0	17	120				
CNTN5	53942	broad.mit.edu	37	11	99715818	99715818	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:99715818G>T	ENST00000524871.1	+	6	691		c.e6-1		CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site|CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000418526.2_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.?(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTTTCCTAAGATGGCTTCGA	0.343																																							uc001pga.2		NA																	3	Unknown(3)		lung(3)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.e6-1		contactin 5 isoform long							96.0	85.0	89.0					11																	99715818		1821	4091	5912	SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715818G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.402-1G>T	11.37:g.99715818G>T						CNTN5_uc009ywv.1_Splice_Site_p.R134_splice|CNTN5_uc001pfz.2_Splice_Site_p.R134_splice|CNTN5_uc001pgb.2_Splice_Site_p.R60_splice	p.R134_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	741	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)						A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	c.402_splice	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494836	0.85069	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN5	99221028	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.597000	0.87782	0.650000	0.86243	.		0.343	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Intron	12	74	1	0	3.35478e-16	0.003163	5.70631e-16	12	74				
TRPC6	7225	broad.mit.edu	37	11	101353888	101353888	+	Missense_Mutation	SNP	C	C	A	rs201162800		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:101353888C>A	ENST00000344327.3	-	5	1726	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	TRPC6_ENST00000360497.4_Missense_Mutation_p.K379N|TRPC6_ENST00000532133.1_Missense_Mutation_p.K434N|TRPC6_ENST00000348423.4_Missense_Mutation_p.K318N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	434					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.K434N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CACGCATTATCTTCCCCATCT	0.408																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1300-1302)AAG>AAT		transient receptor potential cation channel,							71.0	66.0	68.0					11																	101353888		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101353888C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1302G>T	11.37:g.101353888C>A	ENSP00000340913:p.Lys434Asn					TRPC6_uc009ywy.2_Missense_Mutation_p.K318N|TRPC6_uc009ywz.1_Missense_Mutation_p.K379N	p.K434N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	1727	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	434			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1302G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417045	0.42918	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.64618	-0.11;-0.11;0.85;0.85	5.52	2.63	0.31362	.	0.313430	0.39341	N	0.001398	T	0.67683	0.2919	M	0.66439	2.03	0.42544	D	0.993084	P;P;P	0.47034	0.889;0.604;0.822	P;B;P	0.52646	0.705;0.359;0.511	T	0.67337	-0.5696	10	0.42905	T	0.14	-7.3307	11.1224	0.48298	0.0:0.7968:0.0:0.2032	.	379;318;434	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	N	434;434;318;379	ENSP00000340913:K434N;ENSP00000435574:K434N;ENSP00000343672:K318N;ENSP00000353687:K379N	ENSP00000340913:K434N	K	-	3	2	TRPC6	100859098	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.287000	0.33284	0.703000	0.31848	-0.216000	0.12614	AAG		0.408	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		6	48	1	0	0.00307968	0.00308	0.00327966	6	48				
TRPC6	7225	broad.mit.edu	37	11	101374853	101374853	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:101374853G>T	ENST00000344327.3	-	2	1271	c.847C>A	c.(847-849)Ccg>Acg	p.P283T	TRPC6_ENST00000360497.4_Missense_Mutation_p.P283T|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.P283T|TRPC6_ENST00000348423.4_Missense_Mutation_p.P283T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	283					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P283T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGTAAGCCGGACTTGCCAGG	0.438																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(847-849)CCG>ACG		transient receptor potential cation channel,							160.0	158.0	158.0					11																	101374853		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374853G>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.847C>A	11.37:g.101374853G>T	ENSP00000340913:p.Pro283Thr					TRPC6_uc009ywy.2_Missense_Mutation_p.P283T|TRPC6_uc009ywz.1_Missense_Mutation_p.P283T	p.P283T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1272	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	283			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.847C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418950	0.83559	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.84	5.84	0.93424	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.92169	0.7517	M	0.90082	3.085	0.80722	D	1	D;P;D	0.89917	1.0;0.944;1.0	D;P;D	0.97110	0.999;0.81;1.0	D	0.92886	0.6327	10	0.87932	D	0	-11.0067	20.1438	0.98071	0.0:0.0:1.0:0.0	.	283;283;283	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	283	ENSP00000340913:P283T;ENSP00000435574:P283T;ENSP00000343672:P283T;ENSP00000353687:P283T	ENSP00000340913:P283T	P	-	1	0	TRPC6	100880063	1.000000	0.71417	0.984000	0.44739	0.978000	0.69477	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	CCG		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		48	211	1	0	4.88482e-21	0.00361	8.86839e-21	48	211				
DYNC2H1	79659	broad.mit.edu	37	11	102992159	102992159	+	Silent	SNP	A	A	T	rs549285919		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:102992159A>T	ENST00000375735.2	+	10	1563	c.1419A>T	c.(1417-1419)ccA>ccT	p.P473P	DYNC2H1_ENST00000334267.7_Silent_p.P473P|DYNC2H1_ENST00000398093.3_Silent_p.P473P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	473	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P473P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCTGGACCACTTTCTGGCA	0.328																																							uc001pho.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1417-1419)CCA>CCT		dynein, cytoplasmic 2, heavy chain 1							69.0	70.0	70.0					11																	102992159		1818	4074	5892	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102992159A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1419A>T	11.37:g.102992159A>T						DYNC2H1_uc001phn.1_Silent_p.P473P|DYNC2H1_uc009yxe.1_Silent_p.P473P	p.P473P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	10	1563	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	473			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.1419A>T	CCDS53701.1																																																																																				0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		8	61	0	0	0	0.006214	0	8	61				
DDI1	414301	broad.mit.edu	37	11	103908038	103908038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:103908038G>T	ENST00000302259.3	+	1	731	c.488G>T	c.(487-489)cGc>cTc	p.R163L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	163							aspartic-type endopeptidase activity (GO:0004190)	p.R163L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCAAGGAACGCAACCCTCCC	0.612																																							uc001phr.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(487-489)CGC>CTC		DDI1, DNA-damage inducible 1, homolog 1							64.0	62.0	62.0					11																	103908038		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908038G>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.488G>T	11.37:g.103908038G>T	ENSP00000302805:p.Arg163Leu					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.R163L	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	731	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	163					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.488G>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141146	0.77775	.	.	ENSG00000170967	ENST00000302259	T	0.24723	1.84	5.02	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	M	0.83603	2.65	0.44024	D	0.996744	D	0.89917	1.0	D	0.87578	0.998	T	0.53287	-0.8460	10	0.38643	T	0.18	-25.855	11.9064	0.52715	0.0857:0.0:0.9143:0.0	.	163	Q8WTU0	DDI1_HUMAN	L	163	ENSP00000302805:R163L	ENSP00000302805:R163L	R	+	2	0	DDI1	103413248	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.217000	0.77982	1.480000	0.48289	0.655000	0.94253	CGC		0.612	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		20	123	1	0	8.04996e-18	0.001882	1.40074e-17	20	123				
CASP4	837	broad.mit.edu	37	11	104821732	104821732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:104821732C>A	ENST00000444739.2	-	4	1376	c.466G>T	c.(466-468)Gac>Tac	p.D156Y	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.D100Y	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	156					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.D156Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGTCAAAGTCAGCTCCATTC	0.493																																							uc001pid.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(466-468)GAC>TAC		caspase 4 isoform alpha precursor							193.0	170.0	178.0					11																	104821732		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104821732C>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.466G>T	11.37:g.104821732C>A	ENSP00000388566:p.Asp156Tyr					CASP4_uc001pib.1_Missense_Mutation_p.D100Y|CASP4_uc009yxg.1_Missense_Mutation_p.D65Y|CASP4_uc010rux.1_Missense_Mutation_p.D156Y	p.D156Y	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	4	539	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	156					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.466G>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689878	0.29962	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.22336	1.96;1.96	4.2	-0.39	0.12450	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.841800	0.10720	N	0.641853	T	0.33818	0.0876	M	0.89968	3.075	0.09310	N	0.999998	B;B	0.27853	0.106;0.191	B;B	0.38985	0.287;0.287	T	0.48410	-0.9038	10	0.59425	D	0.04	.	4.0961	0.09991	0.0:0.346:0.3386:0.3155	.	156;156	B4E2D2;P49662	.;CASP4_HUMAN	Y	156;100;109	ENSP00000388566:D156Y;ENSP00000376857:D100Y	ENSP00000347741:D109Y	D	-	1	0	CASP4	104326942	0.000000	0.05858	0.079000	0.20413	0.009000	0.06853	-0.596000	0.05720	0.040000	0.15660	0.650000	0.86243	GAC		0.493	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		24	111	1	0	1.17739e-12	0.005443	1.84778e-12	24	111				
NPAT	4863	broad.mit.edu	37	11	108044227	108044227	+	Missense_Mutation	SNP	G	G	C	rs533844844		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108044227G>C	ENST00000278612.8	-	13	1589	c.1484C>G	c.(1483-1485)cCg>cGg	p.P495R	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	495					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P495R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGATTCACTCGGTACATTTGA	0.373																																							uc001pjz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1483-1485)CCG>CGG		nuclear protein,  ataxia-telangiectasia locus							148.0	141.0	143.0					11																	108044227		1863	4096	5959	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044227G>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1484C>G	11.37:g.108044227G>C	ENSP00000278612:p.Pro495Arg					NPAT_uc001pka.2_Missense_Mutation_p.P290R	p.P495R	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1586	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)	495					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1484C>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	0.651	-0.809571	0.02798	.	.	ENSG00000149308	ENST00000278612	T	0.28454	1.61	5.95	0.589	0.17452	.	0.621563	0.16032	N	0.232816	T	0.22399	0.0540	L	0.50333	1.59	0.09310	N	1	B;B	0.26363	0.147;0.147	B;B	0.26094	0.066;0.066	T	0.18555	-1.0333	10	0.36615	T	0.2	1.1321	3.5007	0.07672	0.1388:0.1006:0.2251:0.5356	.	495;495	B9EG70;Q14207	.;NPAT_HUMAN	R	495	ENSP00000278612:P495R	ENSP00000278612:P495R	P	-	2	0	NPAT	107549437	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.040000	0.13905	-0.137000	0.11455	0.563000	0.77884	CCG		0.373	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		15	191	0	0	0	0.00245	0	15	191				
ATM	472	broad.mit.edu	37	11	108153533	108153533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108153533C>T	ENST00000452508.2	+	26	3862	c.3673C>T	c.(3673-3675)Caa>Taa	p.Q1225*	ATM_ENST00000278616.4_Nonsense_Mutation_p.Q1225*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1225					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.Q1225*(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)	GCTAAATCTTCAAGATACTGA	0.289			"""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	GRCh37	CM031637	ATM	M		c.(3673-3675)CAA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							78.0	80.0	79.0					11																	108153533		2199	4293	6492	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.chr11:108153533C>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.3673C>T	11.37:g.108153533C>T	ENSP00000388058:p.Gln1225*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.Q1225*	p.Q1225*	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)	25	4058	+		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)	1225					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.3673C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	42	9.488240	0.99184	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.38	5.38	0.77491	.	0.154976	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.8821	0.52581	0.2772:0.7228:0.0:0.0	.	.	.	.	X	1225	.	ENSP00000278616:Q1225X	Q	+	1	0	ATM	107658743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.045000	0.49838	2.544000	0.85801	0.591000	0.81541	CAA		0.289	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	75	0	0	0	0.001168	0	6	75				
EXPH5	23086	broad.mit.edu	37	11	108383973	108383973	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108383973T>C	ENST00000265843.4	-	6	2371	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	EXPH5_ENST00000443411.1_Missense_Mutation_p.N566S|EXPH5_ENST00000525344.1_Missense_Mutation_p.N747S|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.N678S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	754					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.N754S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAAACCCGTTGCTCTTGGC	0.413																																							uc001pkk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2260-2262)AAC>AGC		exophilin 5 isoform a							90.0	97.0	95.0					11																	108383973		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383973T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2261A>G	11.37:g.108383973T>C	ENSP00000265843:p.Asn754Ser					EXPH5_uc010rvy.1_Missense_Mutation_p.N566S|EXPH5_uc010rvz.1_Missense_Mutation_p.N598S|EXPH5_uc010rwa.1_Missense_Mutation_p.N678S	p.N754S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2372	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	754					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2261A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	6.956	0.546285	0.13312	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04603	4.16;4.09;3.94;4.16;4.0;3.59	6.04	3.75	0.43078	.	0.789707	0.11980	N	0.510908	T	0.03915	0.0110	L	0.27053	0.805	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.48151	-0.9060	10	0.14656	T	0.56	-0.0199	8.4649	0.32949	0.0:0.1527:0.0:0.8473	.	754	Q8NEV8	EXPH5_HUMAN	S	754;678;566;747;678;566	ENSP00000265843:N754S;ENSP00000391966:N678S;ENSP00000411390:N566S;ENSP00000432546:N747S;ENSP00000432683:N678S;ENSP00000446434:N566S	ENSP00000265843:N754S	N	-	2	0	EXPH5	107889183	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.103000	0.10940	0.538000	0.28769	0.460000	0.39030	AAC		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		41	120	0	0	0	0.002852	0	41	120				
RDX	5962	broad.mit.edu	37	11	110128497	110128497	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:110128497G>T	ENST00000343115.4	-	7	1012	c.693C>A	c.(691-693)gaC>gaA	p.D231E	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.D95E|RDX_ENST00000528498.1_Missense_Mutation_p.D231E|RDX_ENST00000405097.1_Missense_Mutation_p.D231E|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	231	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.D231E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTACTTGTCGTCATGCTCAT	0.323																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(691-693)GAC>GAA		radixin							142.0	141.0	141.0					11																	110128497		2201	4297	6498	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110128497G>T	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.693C>A	11.37:g.110128497G>T	ENSP00000342830:p.Asp231Glu					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.D231E|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.D95E	p.D231E	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	7	1003	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	231			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.693C>A	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	g	6.056	0.378598	0.11466	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.32	4.2	0.49525	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.048587	0.85682	D	0.000000	T	0.68357	0.2992	N	0.04132	-0.27	0.48341	D	0.999637	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.57545	-0.7793	10	0.11485	T	0.65	.	7.9077	0.29771	0.7914:0.1368:0.0718:0.0	.	95;231;231	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	E	231;231;231;231;95;50	ENSP00000432112:D231E;ENSP00000384136:D231E;ENSP00000342830:D231E;ENSP00000445826:D95E;ENSP00000431560:D50E	ENSP00000342830:D231E	D	-	3	2	RDX	109633707	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.777000	0.26718	0.856000	0.35383	-0.295000	0.09555	GAC		0.323	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		10	96	1	0	3.27435e-08	0.00245	4.3599e-08	10	96				
DRD2	1813	broad.mit.edu	37	11	113287585	113287585	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:113287585C>A	ENST00000362072.3	-	4	876	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	DRD2_ENST00000538967.1_Splice_Site_p.D178Y|DRD2_ENST00000355319.2_Splice_Site_p.D178Y|DRD2_ENST00000544518.1_Splice_Site_p.D177Y|DRD2_ENST00000346454.3_Splice_Site_p.D178Y|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000542968.1_Splice_Site_p.D178Y	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	178					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.D178Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGAATGTACCTGCGTTATTG	0.607																																							uc001pnz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(532-534)GAC>TAC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						101.0	76.0	85.0					11																	113287585		2201	4296	6497	SO:0001630	splice_region_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113287585C>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.532+1G>T	11.37:g.113287585C>A						DRD2_uc010rwv.1_Missense_Mutation_p.D177Y|DRD2_uc001poa.3_Missense_Mutation_p.D178Y|DRD2_uc001pob.3_Missense_Mutation_p.D178Y|DRD2_uc009yyr.1_Missense_Mutation_p.D178Y	p.D178Y	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	3	853	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	178			Extracellular (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.532G>T	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479714	0.84747	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.176724	0.64402	D	0.000012	D	0.84311	0.5444	M	0.81497	2.545	0.80722	D	1	P;D;D;D	0.59357	0.546;0.967;0.967;0.985	P;P;P;P	0.62649	0.665;0.851;0.786;0.905	D	0.84778	0.0771	9	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	177;178;178;178	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	Y	178;178;178;177;178;178	ENSP00000347474:D178Y;ENSP00000278597:D178Y;ENSP00000354859:D178Y;ENSP00000441068:D177Y;ENSP00000442172:D178Y;ENSP00000438215:D178Y	.	D	-	1	0	DRD2	112792795	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	7.814000	0.86154	2.557000	0.86248	0.655000	0.94253	GAC		0.607	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	Missense_Mutation	6	30	1	0	0.000673444	0.008291	0.000736708	6	30				
HTR3A	3359	broad.mit.edu	37	11	113860404	113860404	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:113860404G>T	ENST00000504030.2	+	9	1801	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	HTR3A_ENST00000535865.1_Silent_p.L196L|HTR3A_ENST00000506841.2_Silent_p.L484L|HTR3A_ENST00000299961.5_Silent_p.L437L|HTR3A_ENST00000355556.2_Silent_p.L490L|HTR3A_ENST00000375498.2_Silent_p.L458L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	452					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.L484L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGGACAAGCTGCTATTCCACA	0.592																																							uc010rxb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)CTG>CTT		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						92.0	82.0	86.0					11																	113860404		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860404G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1356G>T	11.37:g.113860404G>T						HTR3A_uc010rxa.1_Silent_p.L458L|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.L437L	p.L490L	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1703	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	452			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1470G>T																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		20	132	1	0	3.7963e-18	0.00333	6.65283e-18	20	132				
CEP164	22897	broad.mit.edu	37	11	117261501	117261501	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:117261501G>T	ENST00000278935.3	+	16	2090	c.1943G>T	c.(1942-1944)aGg>aTg	p.R648M	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	648	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R648M(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGTTCCTTGAGGGAGCGGCTG	0.537																																							uc001prc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1942-1944)AGG>ATG		centrosomal protein 164kDa							93.0	99.0	97.0					11																	117261501		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117261501G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1943G>T	11.37:g.117261501G>T	ENSP00000278935:p.Arg648Met					CEP164_uc001prb.2_Missense_Mutation_p.R651M|CEP164_uc010rxk.1_Missense_Mutation_p.R622M|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R81M	p.R648M	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	16	2090	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	648			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1943G>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888677	0.17540	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.43294	0.95	5.34	-0.52	0.11935	.	0.650141	0.14287	N	0.329129	T	0.20901	0.0503	N	0.14661	0.345	0.20074	N	0.999935	P;P;P;P	0.42620	0.454;0.785;0.589;0.589	B;B;B;B	0.37346	0.088;0.247;0.181;0.181	T	0.12993	-1.0526	10	0.72032	D	0.01	-14.3628	6.1983	0.20561	0.6295:0.1286:0.2419:0.0	.	622;422;648;651	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	M	648;622;529	ENSP00000278935:R648M	ENSP00000278935:R648M	R	+	2	0	CEP164	116766711	0.995000	0.38212	0.198000	0.23420	0.038000	0.13279	2.106000	0.41835	0.030000	0.15379	-0.423000	0.05987	AGG		0.537	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		54	225	1	0	3.30712e-30	0.00361	6.35587e-30	54	225				
CCDC153	283152	broad.mit.edu	37	11	119063892	119063892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:119063892C>A	ENST00000503566.2	-	4	317	c.318G>T	c.(316-318)gaG>gaT	p.E106D	CCDC153_ENST00000415318.1_Missense_Mutation_p.E106D			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	106								p.E20D(1)|p.E106D(1)		lung(3)|stomach(1)	4						TGACTTCTTCCTCCAGCTGCT	0.617																																							uc010rze.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(316-318)GAG>GAT		coiled-coil domain containing 153							91.0	88.0	89.0					11																	119063892		2199	4295	6494	SO:0001583	missense	283152							g.chr11:119063892C>A		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.318G>T	11.37:g.119063892C>A	ENSP00000423567:p.Glu106Asp						p.E106D	NM_001145018	NP_001138490	Q494R4	CC153_HUMAN			5	406	-			106			Potential.			Missense_Mutation	SNP	ENST00000503566.2	37	c.318G>T	CCDS44753.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206217	0.58343	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.29655	1.56;1.56	4.8	-0.233	0.13078	.	0.089767	0.46758	D	0.000263	T	0.46983	0.1421	M	0.76574	2.34	0.28057	N	0.933136	D	0.71674	0.998	D	0.66084	0.941	T	0.39440	-0.9614	10	0.87932	D	0	-3.7463	8.4777	0.33023	0.0:0.5642:0.0:0.4358	.	106	Q494R4	CC153_HUMAN	D	106	ENSP00000423567:E106D;ENSP00000445431:E106D	ENSP00000445431:E106D	E	-	3	2	CCDC153	118569102	0.220000	0.23631	0.726000	0.30738	0.661000	0.39034	-0.084000	0.11268	0.071000	0.16664	0.561000	0.74099	GAG		0.617	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		14	128	1	0	1.52009e-12	0.003163	2.37801e-12	14	128				
OAF	220323	broad.mit.edu	37	11	120097704	120097704	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:120097704A>G	ENST00000328965.4	+	3	1059	c.546A>G	c.(544-546)caA>caG	p.Q182Q	OAF_ENST00000531220.1_Splice_Site_p.Q66Q	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	182						extracellular vesicular exosome (GO:0070062)		p.Q182Q(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGCTGGAGCAAGGTCAGCTGG	0.662																																							uc001pxb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CAA>CAG		OAF homolog precursor							34.0	29.0	31.0					11																	120097704		2203	4300	6503	SO:0001630	splice_region_variant	220323							g.chr11:120097704A>G	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.547+1A>G	11.37:g.120097704A>G							p.Q182Q	NM_178507	NP_848602	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	787	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	182						Silent	SNP	ENST00000328965.4	37	c.546A>G	CCDS8430.1																																																																																				0.662	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507	Silent	7	45	0	0	0	0.001984	0	7	45				
BLID	414899	broad.mit.edu	37	11	121986441	121986441	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:121986441C>A	ENST00000560104.1	-	1	482	c.190G>T	c.(190-192)Gtg>Ttg	p.V64L		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	64					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.V64L(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGAGAAAGCACTGTTTCCTTA	0.488											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pyf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GTG>TTG		BRCC2 protein							165.0	164.0	164.0					11																	121986441		2202	4299	6501	SO:0001583	missense	414899				apoptosis	mitochondrion		g.chr11:121986441C>A	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.190G>T	11.37:g.121986441C>A	ENSP00000453153:p.Val64Leu		OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1515	LOC399959_uc009zba.2_Intron	p.V64L	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)	1	483	-		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	64					A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	c.190G>T	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	C	6.237	0.411810	0.11812	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.21	-2.67	0.06059	.	.	.	.	.	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.20974	-1.0259	8	0.87932	D	0	.	0.3201	0.00302	0.3393:0.2691:0.1671:0.2245	.	64	Q8IZY5	BLID_HUMAN	L	64	.	ENSP00000448995:V64L	V	-	1	0	BLID;AP001924.1	121491651	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.505000	0.06367	-0.596000	0.05821	-0.218000	0.12543	GTG		0.488	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786		31	160	1	0	5.90632e-09	0.002445	8.1001e-09	31	160				
OR6X1	390260	broad.mit.edu	37	11	123625061	123625061	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123625061G>C	ENST00000327930.2	-	1	192	c.166C>G	c.(166-168)Cca>Gca	p.P56A		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56A(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGTACATTGGAATTTGTAGC	0.433																																							uc010rzy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(166-168)CCA>GCA		olfactory receptor, family 6, subfamily X,							100.0	97.0	98.0					11																	123625061		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625061G>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.166C>G	11.37:g.123625061G>C	ENSP00000333724:p.Pro56Ala						p.P56A	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	166	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	56			Helical; Name=2; (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.166C>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868782	0.72065	.	.	ENSG00000221931	ENST00000327930	T	0.02015	4.5	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17619	0.0423	M	0.93978	3.48	0.49299	D	0.999771	D	0.89917	1.0	D	0.91635	0.999	T	0.03287	-1.1052	9	0.59425	D	0.04	-12.9437	14.0491	0.64725	0.0:0.0:1.0:0.0	.	56	Q8NH79	OR6X1_HUMAN	A	56	ENSP00000333724:P56A	ENSP00000333724:P56A	P	-	1	0	OR6X1	123130271	1.000000	0.71417	0.924000	0.36721	0.946000	0.59487	9.392000	0.97252	2.183000	0.69458	0.650000	0.86243	CCA		0.433	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		10	106	0	0	0	0.008291	0	10	106				
OR10G4	390264	broad.mit.edu	37	11	123886909	123886909	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123886909T>A	ENST00000320891.4	+	1	628	c.628T>A	c.(628-630)Ttt>Att	p.F210I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F210I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCAGGCTGCTTTGTCCTGAT	0.567																																							uc010sac.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(628-630)TTT>ATT		olfactory receptor, family 10, subfamily G,							284.0	235.0	252.0					11																	123886909		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886909T>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.628T>A	11.37:g.123886909T>A	ENSP00000325076:p.Phe210Ile						p.F210I	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	628	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	210			Helical; Name=5; (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.628T>A	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	t	13.18	2.160612	0.38119	.	.	ENSG00000254737	ENST00000320891	T	0.39592	1.07	3.33	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000129	T	0.48554	0.1506	M	0.70275	2.135	0.29082	N	0.882638	P	0.35033	0.481	P	0.45037	0.467	T	0.53585	-0.8418	10	0.87932	D	0	.	9.6804	0.40067	0.0:0.0:0.1734:0.8266	.	210	Q8NGN3	O10G4_HUMAN	I	210	ENSP00000325076:F210I	ENSP00000325076:F210I	F	+	1	0	OR10G4	123392119	0.000000	0.05858	0.955000	0.39395	0.084000	0.17831	-0.658000	0.05329	1.529000	0.49120	0.473000	0.43528	TTT		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		22	157	0	0	0	0.001882	0	22	157				
OR10G8	219869	broad.mit.edu	37	11	123901162	123901162	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123901162T>C	ENST00000431524.1	+	1	866	c.833T>C	c.(832-834)cTg>cCg	p.L278P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L278P(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TACACTGTGCTGACGCCCCTT	0.498																																							uc001pzp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)CTG>CCG		olfactory receptor, family 10, subfamily G,							131.0	124.0	126.0					11																	123901162		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901162T>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.833T>C	11.37:g.123901162T>C	ENSP00000389072:p.Leu278Pro						p.L278P	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	833	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	278			Helical; Name=7; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.833T>C	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801471	0.31869	.	.	ENSG00000234560	ENST00000431524	T	0.00245	8.45	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.261154	0.20095	N	0.099351	T	0.00496	0.0016	M	0.78049	2.395	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	T	0.78306	-0.2255	10	0.87932	D	0	.	11.0743	0.48021	0.0:0.0:0.0:1.0	.	278	Q8NGN5	O10G8_HUMAN	P	278	ENSP00000389072:L278P	ENSP00000389072:L278P	L	+	2	0	OR10G8	123406372	0.029000	0.19370	0.956000	0.39512	0.032000	0.12392	2.387000	0.44389	1.319000	0.45190	0.455000	0.32223	CTG		0.498	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		23	107	0	0	0	0.00278	0	23	107				
Unknown	0	broad.mit.edu	37	11	124095877	124095877	+	IGR	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:124095877A>G								OR10D3 (38925 upstream) : OR8G1 (24545 downstream)																							TCACAGTGGGAGTTTACATTT	0.433																																							uc010saf.1		NA																	0					0						c.(478-480)GGA>GGG		olfactory receptor, family 8, subfamily G,							244.0	253.0	250.0					11																	124095877		2114	4273	6387	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095877A>G																													11.37:g.124095877A>G							p.G160G	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	480	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	160						Silent	SNP		37	c.480A>G																																																																																				0	0.433									42	376	0	0	0	0.00874	0	42	376				
OR8B12	219858	broad.mit.edu	37	11	124413356	124413356	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:124413356G>C	ENST00000306842.2	-	1	219	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L65L(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTATTAAAGAGAGGTTAAAAA	0.453																																							uc010sam.1		NA																	2	Substitution - coding silent(2)	p.L65L(1)	lung(1)|breast(1)	ovary(1)|breast(1)|skin(1)	3						c.(193-195)CTC>CTG		olfactory receptor, family 8, subfamily B,							81.0	78.0	79.0					11																	124413356		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413356G>C		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.195C>G	11.37:g.124413356G>C							p.L65L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	195	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	65			Helical; Name=2; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.195C>G	CCDS31711.1																																																																																				0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			11	76	0	0	0	0.000978	0	11	76				
KCNJ1	3758	broad.mit.edu	37	11	128709558	128709558	+	Missense_Mutation	SNP	A	A	G	rs201126408		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:128709558A>G	ENST00000392664.2	-	2	754	c.638T>C	c.(637-639)gTg>gCg	p.V213A	KCNJ1_ENST00000392665.2_Missense_Mutation_p.V194A|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V194A|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V194A|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V194A	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	213					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V213A(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GAGATTAGCCACTCGGATTAG	0.488																																							uc001qeo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(637-639)GTG>GCG		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						85.0	85.0	85.0					11																	128709558		2195	4287	6482	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709558A>G	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.638T>C	11.37:g.128709558A>G	ENSP00000376432:p.Val213Ala					KCNJ1_uc001qep.1_Missense_Mutation_p.V194A|KCNJ1_uc001qeq.1_Missense_Mutation_p.V194A|KCNJ1_uc001qer.1_Missense_Mutation_p.V194A|KCNJ1_uc001qes.1_Missense_Mutation_p.V194A	p.V213A	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	689	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	213			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.638T>C	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356099	0.82243	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.71	5.71	0.89125	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98722	1.0709	10	0.87932	D	0	.	15.992	0.80214	1.0:0.0:0.0:0.0	.	213	P48048	IRK1_HUMAN	A	194;194;194;194;213	ENSP00000376433:V194A;ENSP00000376434:V194A;ENSP00000406320:V194A;ENSP00000316233:V194A;ENSP00000376432:V213A	ENSP00000316233:V194A	V	-	2	0	KCNJ1	128214768	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.323000	0.96364	2.173000	0.68751	0.421000	0.28195	GTG		0.488	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		16	120	0	0	0	0.007413	0	16	120				
ARHGAP32	9743	broad.mit.edu	37	11	128839671	128839671	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:128839671C>A	ENST00000310343.9	-	22	5394	c.5395G>T	c.(5395-5397)Ggg>Tgg	p.G1799W	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1450W|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1450W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1799	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.G1450W(1)|p.G1799W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCAGTTTTCCCAGGATCTGAT	0.547																																							uc009zcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(5395-5397)GGG>TGG		Rho GTPase-activating protein isoform 1							93.0	91.0	92.0					11																	128839671		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839671C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5395G>T	11.37:g.128839671C>A	ENSP00000310561:p.Gly1799Trp					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G758W|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1450W	p.G1799W	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5395	-			1799			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5395G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332009	0.81801	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.53423	0.73;0.62;0.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71031	-0.4710	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1799	A7KAX9	RHG32_HUMAN	W	1799;1450;1450	ENSP00000310561:G1799W;ENSP00000376425:G1450W;ENSP00000432862:G1450W	ENSP00000310561:G1799W	G	-	1	0	ARHGAP32	128344881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.482000	0.81143	2.884000	0.98904	0.655000	0.94253	GGG		0.547	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		31	137	1	0	4.15321e-07	0.009535	5.29373e-07	31	137				
IQSEC3	440073	broad.mit.edu	37	12	247571	247571	+	Missense_Mutation	SNP	C	C	A	rs375324399		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:247571C>A	ENST00000538872.1	+	4	1160	c.1042C>A	c.(1042-1044)Cca>Aca	p.P348T	IQSEC3_ENST00000326261.4_Missense_Mutation_p.P348T|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P45T|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	348					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P348T(1)|p.P45T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAGCCGCCTGCCACGGCGGAT	0.667																																							uc001qhw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(133-135)CCA>ACA		IQ motif and Sec7 domain 3		C	THR/PRO,THR/PRO	0,4382		0,0,2191	19.0	19.0	19.0		1042,133	5.3	1.0	12		19	1,8575		0,1,4287	no	missense,missense	IQSEC3	NM_001170738.1,NM_015232.1	38,38	0,1,6478	AA,AC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	348/1183,45/760	247571	1,12957	2191	4288	6479	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247571C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1042C>A	12.37:g.247571C>A	ENSP00000437554:p.Pro348Thr					IQSEC3_uc001qhu.1_Missense_Mutation_p.P45T|IQSEC3_uc001qht.1_Missense_Mutation_p.P130T|uc001qhv.1_RNA	p.P45T	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	139	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		348					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.133C>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675974	0.88445	0.0	1.17E-4	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.75589	-0.95;-0.95;-0.95	5.29	5.29	0.74685	.	0.095790	0.85682	D	0.000000	D	0.82655	0.5084	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.77343	-0.2623	10	0.13853	T	0.58	.	18.9415	0.92607	0.0:1.0:0.0:0.0	.	348;45	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	348;348;45	ENSP00000437554:P348T;ENSP00000315662:P348T;ENSP00000372292:P45T	ENSP00000315662:P348T	P	+	1	0	IQSEC3	117832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.475000	0.83589	0.462000	0.41574	CCA		0.667	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		9	19	1	0	0.000978159	0.000978	0.00106767	9	19				
SLC6A13	6540	broad.mit.edu	37	12	333247	333247	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:333247G>T	ENST00000343164.4	-	11	1274	c.1222C>A	c.(1222-1224)Cac>Aac	p.H408N	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	408					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.H408N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGGAACACGTGAGGGTACATG	0.562																																							uc001qic.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)CAC>AAC		solute carrier family 6 (neurotransmitter							119.0	99.0	106.0					12																	333247		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333247G>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1222C>A	12.37:g.333247G>T	ENSP00000339260:p.His408Asn					SLC6A13_uc009zdj.1_Missense_Mutation_p.H398N|SLC6A13_uc010sdl.1_Missense_Mutation_p.H316N	p.H408N	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1275	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		408					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1222C>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211045	0.09757	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73789	-0.78;-0.78	5.5	-6.91	0.01649	.	0.858034	0.10712	N	0.642732	T	0.45836	0.1362	N	0.16037	0.36	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.15052	0.002;0.012;0.007	T	0.38628	-0.9652	10	0.13108	T	0.6	.	5.6855	0.17801	0.0629:0.36:0.2322:0.3449	.	316;387;408	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	N	316;387;408	ENSP00000407104:H316N;ENSP00000339260:H408N	ENSP00000318097:H387N	H	-	1	0	SLC6A13	203508	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	-0.330000	0.07925	-0.952000	0.03649	-0.479000	0.04858	CAC		0.562	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		9	75	1	0	2.17888e-05	0.006214	2.56155e-05	9	75				
WNK1	65125	broad.mit.edu	37	12	994341	994341	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:994341A>C	ENST00000315939.6	+	19	5014	c.4371A>C	c.(4369-4371)tcA>tcC	p.S1457S	WNK1_ENST00000535572.1_Silent_p.S1210S|WNK1_ENST00000340908.4_Silent_p.S1050S|WNK1_ENST00000530271.2_Silent_p.S1955S|WNK1_ENST00000537687.1_Silent_p.S1717S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1457					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1717S(1)|p.S1457S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGCAACTTCAGCCTCTGCAG	0.507																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4369-4371)TCA>TCC		WNK lysine deficient protein kinase 1							103.0	104.0	104.0					12																	994341		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994341A>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4371A>C	12.37:g.994341A>C						WNK1_uc001qip.3_Silent_p.S1210S|WNK1_uc001qir.3_Silent_p.S630S	p.S1457S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4878	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1457					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4371A>C	CCDS8506.1																																																																																				0.507	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		21	184	0	0	0	0.001882	0	21	184				
KCNA1	3736	broad.mit.edu	37	12	5021978	5021978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5021978C>A	ENST00000382545.3	+	2	2541	c.1434C>A	c.(1432-1434)tgC>tgA	p.C478*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	478					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.C478*(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTGCCAATTGCACCACTGCTA	0.403																																							uc001qnh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1432-1434)TGC>TGA		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						144.0	142.0	143.0					12																	5021978		2203	4300	6503	SO:0001587	stop_gained	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021978C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1434C>A	12.37:g.5021978C>A	ENSP00000371985:p.Cys478*						p.C478*	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2539	+			478					A6NM83|Q3MIQ9	Nonsense_Mutation	SNP	ENST00000382545.3	37	c.1434C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	47	13.161845	0.99724	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	.	.	.	5.35	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1105	0.48230	0.0:0.8518:0.0:0.1482	.	.	.	.	X	478	.	ENSP00000228858:C478X	C	+	3	2	KCNA1	4892239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.688000	0.37690	0.944000	0.37579	0.655000	0.94253	TGC		0.403	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		31	202	1	0	6.02846e-25	0.003271	1.12669e-24	31	202				
KCNA1	3736	broad.mit.edu	37	12	5022022	5022022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5022022C>A	ENST00000382545.3	+	2	2585	c.1478C>A	c.(1477-1479)aCc>aAc	p.T493N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	493					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.T493N(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AAGCTACTGACCGATGTTTAA	0.383																																							uc001qnh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1477-1479)ACC>AAC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						98.0	98.0	98.0					12																	5022022		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5022022C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1478C>A	12.37:g.5022022C>A	ENSP00000371985:p.Thr493Asn						p.T493N	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2583	+			493			PDZ-binding (By similarity).		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1478C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411154	0.62399	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97066	-4.23	5.35	4.45	0.53987	.	0.110362	0.64402	D	0.000010	D	0.98504	0.9501	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99758	1.1020	10	0.87932	D	0	.	15.5422	0.76062	0.0:0.8616:0.1384:0.0	.	493	Q09470	KCNA1_HUMAN	N	493	ENSP00000371985:T493N	ENSP00000228858:T493N	T	+	2	0	KCNA1	4892283	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.651000	0.83577	1.603000	0.50134	0.655000	0.94253	ACC		0.383	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		36	125	1	0	9.65963e-10	0.003271	1.37456e-09	36	125				
KCNA5	3741	broad.mit.edu	37	12	5153695	5153695	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5153695G>T	ENST00000252321.3	+	1	611	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	128					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.G128W(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CAACATCTCCGGGCTGCGCTT	0.682																																							uc001qni.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(382-384)GGG>TGG		potassium voltage-gated channel, shaker-related							30.0	29.0	29.0					12																	5153695		2201	4299	6500	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153695G>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.382G>T	12.37:g.5153695G>T	ENSP00000252321:p.Gly128Trp						p.G128W	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	611	+			128					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.382G>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684481	0.68157	.	.	ENSG00000130037	ENST00000252321	D	0.95622	-3.76	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.153750	0.42548	D	0.000690	D	0.98912	0.9631	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98982	1.0805	10	0.87932	D	0	.	16.3855	0.83503	0.0:0.0:1.0:0.0	.	128	P22460	KCNA5_HUMAN	W	128	ENSP00000252321:G128W	ENSP00000252321:G128W	G	+	1	0	KCNA5	5023956	1.000000	0.71417	0.944000	0.38274	0.830000	0.47004	9.548000	0.98103	2.443000	0.82685	0.511000	0.50034	GGG		0.682	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		8	52	1	0	0.000157383	0.00308	0.000177598	8	52				
ANO2	57101	broad.mit.edu	37	12	5724381	5724381	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5724381G>T	ENST00000356134.5	-	19	1973	c.1902C>A	c.(1900-1902)ccC>ccA	p.P634P	ANO2_ENST00000327087.8_Silent_p.P633P|ANO2_ENST00000546188.1_Silent_p.P634P	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	638					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P634P(1)|p.P633P(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATAGAAGATGGGGGAGTAGG	0.448																																							uc001qnm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1897-1899)CCC>CCA		anoctamin 2							82.0	78.0	79.0					12																	5724381		1941	4157	6098	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5724381G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1902C>A	12.37:g.5724381G>T							p.P633P	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			18	1971	-			638			Helical; (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1899C>A																																																																																					0.448	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		13	32	1	0	1.05317e-09	0.00245	1.48897e-09	13	32				
VWF	7450	broad.mit.edu	37	12	6125812	6125812	+	Silent	SNP	G	G	A	rs61750602		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6125812G>A	ENST00000261405.5	-	30	5435	c.5181C>T	c.(5179-5181)ctC>ctT	p.L1727L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1727	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L1727L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACACCTGAGTGAGACGAGGCC	0.522																																							uc001qnn.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	GRCh37	CI070564	VWF	I	rs61750602	c.(5179-5181)CTC>CTT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						80.0	77.0	78.0					12																	6125812		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125812G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5181C>T	12.37:g.6125812G>A						VWF_uc010set.1_Intron	p.L1727L	NM_000552	NP_000543	P04275	VWF_HUMAN			30	5431	-			1727			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5181C>T	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		28	107	0	0	0	0.008361	0	28	107				
CHD4	1108	broad.mit.edu	37	12	6710533	6710533	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6710533C>A	ENST00000357008.2	-	6	884	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	CHD4_ENST00000544040.1_Missense_Mutation_p.V234L|CHD4_ENST00000544484.1_Missense_Mutation_p.V238L|CHD4_ENST00000309577.6_Missense_Mutation_p.V241L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	241					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.V241L(2)		central_nervous_system(2)	2						GTGGCTGTCACCATGCTCTCC	0.577																																					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.(721-723)GTG>TTG		chromodomain helicase DNA binding protein 4							84.0	89.0	87.0					12																	6710533		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.chr12:6710533C>A	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.721G>T	12.37:g.6710533C>A	ENSP00000349508:p.Val241Leu					CHD4_uc001qpn.2_Missense_Mutation_p.V234L|CHD4_uc001qpp.2_Missense_Mutation_p.V238L	p.V241L	NM_001273	NP_001264	Q14839	CHD4_HUMAN			6	885	-			241					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.721G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136539	0.77662	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.64;-2.65;-2.64;-2.65;0.81	5.87	5.87	0.94306	.	0.147884	0.45867	D	0.000335	D	0.93657	0.7974	L	0.54323	1.7	0.58432	D	0.999999	P;P;P	0.47910	0.902;0.605;0.902	D;B;D	0.64595	0.927;0.114;0.927	D	0.91466	0.5193	10	0.28530	T	0.3	-0.0259	17.9814	0.89143	0.0:1.0:0.0:0.0	.	241;241;234	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	238;234;241;241;215;241	ENSP00000440392:V238L;ENSP00000440542:V234L;ENSP00000312419:V241L;ENSP00000349508:V241L;ENSP00000437506:V241L	ENSP00000312419:V241L	V	-	1	0	CHD4	6580794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.441000	0.66569	2.774000	0.95407	0.650000	0.86243	GTG		0.577	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		26	159	1	0	3.00307e-07	0.008361	3.85772e-07	26	159				
GNB3	2784	broad.mit.edu	37	12	6952808	6952808	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6952808G>T	ENST00000229264.3	+	8	848	c.443G>T	c.(442-444)tGc>tTc	p.C148F	GNB3_ENST00000435982.2_Missense_Mutation_p.C148F|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	148					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.C148F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TATCTCTCCTGCTGCCGCTTC	0.627																																							uc001qrd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)TGC>TTC		guanine nucleotide-binding protein, beta-3							79.0	78.0	78.0					12																	6952808		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952808G>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.443G>T	12.37:g.6952808G>T	ENSP00000229264:p.Cys148Phe					GNB3_uc001qrc.2_Missense_Mutation_p.C104F|GNB3_uc009zfe.2_Missense_Mutation_p.C148F	p.C148F	NM_002075	NP_002066	P16520	GBB3_HUMAN			8	848	+			148			WD 3.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.443G>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038069	0.54896	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.57	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.88105	2.93	0.80722	D	1	D;P	0.64830	0.994;0.928	D;P	0.67725	0.953;0.815	D	0.85152	0.0987	10	0.87932	D	0	-6.8135	15.9059	0.79430	0.0:0.1353:0.8647:0.0	.	148;148	E9PCP0;P16520	.;GBB3_HUMAN	F	148	ENSP00000229264:C148F;ENSP00000442002:C148F;ENSP00000414734:C148F;ENSP00000445967:C148F	ENSP00000229264:C148F	C	+	2	0	GNB3	6823069	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	8.022000	0.88759	2.619000	0.88677	0.561000	0.74099	TGC		0.627	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		27	85	1	0	2.61193e-14	0.009535	4.25873e-14	27	85				
USP5	8078	broad.mit.edu	37	12	6969609	6969609	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6969609A>T	ENST00000229268.8	+	11	1350	c.1298A>T	c.(1297-1299)cAg>cTg	p.Q433L	USP5_ENST00000389231.5_Missense_Mutation_p.Q433L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	433	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.Q433L(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCAACCGGCAGCAGGATGCC	0.567																																							uc001qri.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|breast(1)|skin(1)	4						c.(1297-1299)CAG>CTG		ubiquitin specific peptidase 5 isoform 1							80.0	81.0	81.0					12																	6969609		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6969609A>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1298A>T	12.37:g.6969609A>T	ENSP00000229268:p.Gln433Leu					USP5_uc001qrh.3_Missense_Mutation_p.Q433L	p.Q433L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			11	1357	+			433					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1298A>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.984027	0.93044	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	D;D	0.90844	-2.74;-2.74	5.13	5.13	0.70059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97900	1.0302	10	0.87932	D	0	-7.2631	15.1179	0.72419	1.0:0.0:0.0:0.0	.	433;433	P45974;P45974-2	UBP5_HUMAN;.	L	433	ENSP00000229268:Q433L;ENSP00000373883:Q433L	ENSP00000229268:Q433L	Q	+	2	0	USP5	6839870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.009000	0.93606	2.147000	0.66899	0.533000	0.62120	CAG		0.567	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			12	174	0	0	0	0.00245	0	12	174				
CLSTN3	9746	broad.mit.edu	37	12	7290632	7290632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:7290632G>A	ENST00000266546.6	+	8	1742	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	CLSTN3_ENST00000537408.1_Missense_Mutation_p.R443H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	431					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R431H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GAGAGTGCCCGCCCAGTCAAG	0.582																																							uc001qsr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1291-1293)CGC>CAC		calsyntenin 3 precursor							79.0	69.0	72.0					12																	7290632		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7290632G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1292G>A	12.37:g.7290632G>A	ENSP00000266546:p.Arg431His					CLSTN3_uc001qss.2_Missense_Mutation_p.R443H	p.R431H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			8	1570	+			431			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1292G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434568	0.96150	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.73789	-0.78;-0.78	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.87378	0.2355	10	0.87932	D	0	-35.316	18.3874	0.90471	0.0:0.0:1.0:0.0	.	443;431	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	H	431;443	ENSP00000266546:R431H;ENSP00000440679:R443H	ENSP00000266546:R431H	R	+	2	0	CLSTN3	7181899	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.633000	0.98432	2.573000	0.86826	0.462000	0.41574	CGC		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		8	72	0	0	0	0.006214	0	8	72				
CD163	9332	broad.mit.edu	37	12	7649500	7649500	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:7649500C>G	ENST00000359156.4	-	5	1210	c.1008G>C	c.(1006-1008)caG>caC	p.Q336H	CD163_ENST00000432237.2_Missense_Mutation_p.Q336H|CD163_ENST00000541972.1_Missense_Mutation_p.Q324H|CD163_ENST00000396620.3_Missense_Mutation_p.Q336H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	336	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.Q336H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTTCATGTCCCTGGCAAGAAA	0.473																																							uc001qsz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1006-1008)CAG>CAC		CD163 antigen isoform a							139.0	97.0	111.0					12																	7649500		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649500C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1008G>C	12.37:g.7649500C>G	ENSP00000352071:p.Gln336His					CD163_uc001qta.3_Missense_Mutation_p.Q336H|CD163_uc009zfw.2_Missense_Mutation_p.Q336H	p.Q336H	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			5	1136	-			336			SRCR 3.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1008G>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	3.700	-0.061726	0.07317	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.03	-10.1	0.00402	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.075320	0.07051	N	0.831942	T	0.11024	0.0269	N	0.03084	-0.415	0.18873	N	0.999989	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.11329	0.006;0.002;0.006	T	0.20472	-1.0274	10	0.29301	T	0.29	.	2.928	0.05791	0.4822:0.2444:0.0814:0.192	.	336;336;336	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	336;324;336;336	ENSP00000352071:Q336H;ENSP00000444071:Q324H;ENSP00000379863:Q336H;ENSP00000403885:Q336H	ENSP00000352071:Q336H	Q	-	3	2	CD163	7540767	0.000000	0.05858	0.001000	0.08648	0.563000	0.35712	-8.730000	0.00017	-3.201000	0.00217	-0.367000	0.07326	CAG		0.473	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		15	46	0	0	0	0.004007	0	15	46				
CLEC1A	51267	broad.mit.edu	37	12	10226012	10226012	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10226012T>A	ENST00000315330.4	-	5	606		c.e5-2		CLEC1A_ENST00000457018.2_Splice_Site|CLEC1A_ENST00000420265.2_Splice_Site	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGCAAATTCCTGTGAAAAGCA	0.483																																							uc001qxb.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e5-1		C-type lectin-like receptor-1							67.0	63.0	64.0					12																	10226012		2203	4300	6503	SO:0001630	splice_region_variant	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10226012T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.544-2A>T	12.37:g.10226012T>A						CLEC1A_uc009zhf.2_Splice_Site_p.E94_splice|CLEC1A_uc001qxc.2_Splice_Site_p.E94_splice|CLEC1A_uc001qxd.2_Splice_Site_p.E139_splice|CLEC1A_uc010sgx.1_Splice_Site_p.E80_splice	p.E182_splice	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			5	628	-								Q8IUW7|Q9NZH3	Splice_Site	SNP	ENST00000315330.4	37	c.544_splice	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254922	0.22965	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0993	0.53774	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLEC1A	10117279	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	3.560000	0.53763	2.169000	0.68431	0.533000	0.62120	.		0.483	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	Intron	15	93	0	0	0	0.003163	0	15	93				
OLR1	4973	broad.mit.edu	37	12	10321772	10321772	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10321772G>T	ENST00000309539.3	-	2	139	c.79C>A	c.(79-81)Ctt>Att	p.L27I	OLR1_ENST00000544577.1_Missense_Mutation_p.L27I|OLR1_ENST00000545927.1_Missense_Mutation_p.L27I|OLR1_ENST00000432556.2_Missense_Mutation_p.L27I|OLR1_ENST00000543993.1_5'Flank|TMEM52B_ENST00000381923.2_5'Flank	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	27					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)	p.L27I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AGAAACTGAAGACCTAGAGTG	0.463																																							uc001qxo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)CTT>ATT		oxidized low density lipoprotein (lectin-like)							68.0	63.0	64.0					12																	10321772		2203	4300	6503	SO:0001583	missense	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10321772G>T	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.79C>A	12.37:g.10321772G>T	ENSP00000309124:p.Leu27Ile					OLR1_uc010sgz.1_5'Flank|OLR1_uc010sha.1_Missense_Mutation_p.L27I	p.L27I	NM_002543	NP_002534	P78380	OLR1_HUMAN			2	193	-			27			Cytoplasmic (Potential).		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	c.79C>A	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068202	0.76301	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000545927;ENST00000432556	T;T;T;T	0.34472	4.99;1.36;3.46;1.36	4.08	3.19	0.36642	.	0.532223	0.15935	N	0.237486	T	0.30792	0.0776	L	0.53249	1.67	0.24024	N	0.996135	P;B	0.44816	0.844;0.421	B;B	0.41174	0.349;0.108	T	0.08576	-1.0715	10	0.22706	T	0.39	.	8.1238	0.30986	0.1096:0.0:0.8904:0.0	.	27;27	B4DI48;P78380	.;OLR1_HUMAN	I	27	ENSP00000309124:L27I;ENSP00000444457:L27I;ENSP00000439251:L27I;ENSP00000405116:L27I	ENSP00000309124:L27I	L	-	1	0	OLR1	10213039	0.199000	0.23386	0.559000	0.28332	0.788000	0.44548	0.232000	0.17891	1.320000	0.45209	0.586000	0.80456	CTT		0.463	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		14	52	1	0	1.05317e-09	0.00245	1.48897e-09	14	52				
TMEM52B	120939	broad.mit.edu	37	12	10342590	10342590	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10342590C>T	ENST00000381923.2	+	6	807	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	TMEM52B_ENST00000536952.1_Missense_Mutation_p.L135F|TMEM52B_ENST00000298530.3_Missense_Mutation_p.L115F			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	135						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L115F(1)									TTTGGACACCCTCCCAGGGTA	0.587																																							uc001qxr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)CTC>TTC		RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;							59.0	54.0	56.0					12																	10342590		2203	4300	6503	SO:0001583	missense	120939					integral to membrane		g.chr12:10342590C>T	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.403C>T	12.37:g.10342590C>T	ENSP00000371348:p.Leu135Phe					C12orf59_uc001qxq.2_Missense_Mutation_p.L115F	p.L135F			Q4KMG9	CL059_HUMAN			5	1020	+			135					Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.403C>T		.	.	.	.	.	.	.	.	.	.	C	14.33	2.504561	0.44558	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32988	1.43;1.43;1.43	4.63	4.63	0.57726	.	0.088312	0.48286	D	0.000199	T	0.48642	0.1511	L	0.57536	1.79	0.37685	D	0.923612	D;D	0.69078	0.997;0.99	D;P	0.64410	0.925;0.885	T	0.49844	-0.8896	10	0.37606	T	0.19	-23.3571	15.3633	0.74499	0.0:1.0:0.0:0.0	.	135;115	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	F	135;115;135	ENSP00000371348:L135F;ENSP00000298530:L115F;ENSP00000446102:L135F	ENSP00000298530:L115F	L	+	1	0	C12orf59	10233857	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.753000	0.62183	2.544000	0.85801	0.585000	0.79938	CTC		0.587	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		14	65	0	0	0	0.00499	0	14	65				
GSG1	83445	broad.mit.edu	37	12	13243462	13243462	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:13243462G>A	ENST00000432710.2	-	2	471	c.339C>T	c.(337-339)tcC>tcT	p.S113S	GSG1_ENST00000457134.2_Silent_p.S100S|GSG1_ENST00000337630.6_Silent_p.S100S|GSG1_ENST00000324458.8_Silent_p.S113S|GSG1_ENST00000537302.1_Silent_p.S100S|GSG1_ENST00000396310.2_Silent_p.S97S|GSG1_ENST00000351606.6_Silent_p.S113S|GSG1_ENST00000396302.3_Silent_p.S100S	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	100						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S113S(2)|p.S100S(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTTCCTCACAGGATAGCCACA	0.542																																							uc001rbn.2		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(337-339)TCC>TCT		germ cell associated 1 isoform 4							65.0	63.0	64.0					12																	13243462		2203	4300	6503	SO:0001819	synonymous_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243462G>A	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.339C>T	12.37:g.13243462G>A						GSG1_uc001rbj.2_Silent_p.S100S|GSG1_uc001rbk.2_Silent_p.S100S|GSG1_uc001rbl.2_Silent_p.S100S|GSG1_uc001rbm.2_Silent_p.S100S|GSG1_uc001rbo.2_Silent_p.S113S|GSG1_uc001rbp.2_Silent_p.S113S|GSG1_uc001rbq.1_Silent_p.S113S	p.S113S	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	512	-		Prostate(47;0.183)	100					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Silent	SNP	ENST00000432710.2	37	c.339C>T	CCDS55808.1																																																																																				0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		15	98	0	0	0	0.004007	0	15	98				
GRIN2B	2904	broad.mit.edu	37	12	13719974	13719974	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:13719974G>T	ENST00000609686.1	-	12	2792	c.2583C>A	c.(2581-2583)gtC>gtA	p.V861V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	861					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.V861V(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)	TGATGGAGAAGACCATGCCAG	0.478																																							uc001rbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2581-2583)GTC>GTA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94.0	80.0	85.0					12																	13719974		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:13719974G>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.2583C>A	12.37:g.13719974G>T							p.V861V	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2762	-			861			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2583C>A	CCDS8662.1																																																																																				0.478	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	77	1	0	5.18039e-06	0.00308	6.26229e-06	7	77				
GUCY2C	2984	broad.mit.edu	37	12	14778850	14778850	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:14778850C>T	ENST00000261170.3	-	21	2386		c.e21-1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.?(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ATGAAAAAGTCTGTAGGTAGt	0.323																																							uc001rcd.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)	6						c.e21-1		guanylate cyclase 2C precursor							64.0	63.0	63.0					12																	14778850		2203	4300	6503	SO:0001630	splice_region_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14778850C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2250-1G>A	12.37:g.14778850C>T							p.G750_splice	NM_004963	NP_004954	P25092	GUC2C_HUMAN			21	2387	-								B2RMY6	Splice_Site	SNP	ENST00000261170.3	37	c.2250_splice	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441442	0.83993	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GUCY2C	14670117	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.734000	0.74801	2.646000	0.89796	0.563000	0.77884	.		0.323	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		Intron	12	56	0	0	0	0.001855	0	12	56				
DERA	51071	broad.mit.edu	37	12	16189280	16189280	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:16189280G>A	ENST00000428559.2	+	8	1077	c.865G>A	c.(865-867)Ggt>Agt	p.G289S	DERA_ENST00000526530.1_Missense_Mutation_p.G201S|DERA_ENST00000532964.1_Missense_Mutation_p.G246S	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	289					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)	p.G289S(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				CTTTCGAATAGGTGCCAGTAC	0.453																																							uc001rde.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GGT>AGT		deoxyribose-phosphate aldolase-like							102.0	100.0	100.0					12																	16189280		1868	4111	5979	SO:0001583	missense	51071				deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	g.chr12:16189280G>A	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.865G>A	12.37:g.16189280G>A	ENSP00000416583:p.Gly289Ser						p.G289S	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN			8	997	+		Hepatocellular(102;0.121)	289					Q53HN9|Q6PHW2	Missense_Mutation	SNP	ENST00000428559.2	37	c.865G>A	CCDS44838.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280116	0.95489	.	.	ENSG00000023697	ENST00000428559;ENST00000532964;ENST00000526530	.	.	.	5.57	4.68	0.58851	Aldolase-type TIM barrel (1);	0.048867	0.85682	N	0.000000	D	0.91506	0.7318	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94808	0.7976	9	0.87932	D	0	-18.9755	14.1619	0.65452	0.0717:0.0:0.9283:0.0	.	289	Q9Y315	DEOC_HUMAN	S	289;246;201	.	ENSP00000416583:G289S	G	+	1	0	DERA	16080547	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	9.448000	0.97600	1.363000	0.46019	0.655000	0.94253	GGT		0.453	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954		8	44	0	0	0	0.004482	0	8	44				
CAPZA3	93661	broad.mit.edu	37	12	18891977	18891977	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:18891977G>T	ENST00000317658.3	+	1	933	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	259					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.D259Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTACGAAGGGATCTTCCAGT	0.413																																							uc001rdy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(775-777)GAT>TAT		capping protein alpha 3							49.0	52.0	51.0					12																	18891977		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891977G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.775G>T	12.37:g.18891977G>T	ENSP00000326238:p.Asp259Tyr					PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.D259Y	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	933	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	259					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.775G>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684273	0.47991	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	4.63	0.57726	F-actin capping protein, alpha subunit, conserved site (1);	0.429914	0.23523	N	0.047275	T	0.53318	0.1789	L	0.44542	1.39	0.35457	D	0.796221	P	0.46457	0.878	P	0.51895	0.683	T	0.65344	-0.6191	9	0.87932	D	0	-22.3982	8.6185	0.33847	0.1025:0.0:0.8975:0.0	.	259	Q96KX2	CAZA3_HUMAN	Y	259	.	ENSP00000326238:D259Y	D	+	1	0	CAPZA3	18783244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.148000	0.42235	2.415000	0.81967	0.462000	0.41574	GAT		0.413	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		6	75	1	0	0.00198382	0.001984	0.00212876	6	75				
PDE3A	5139	broad.mit.edu	37	12	20766631	20766631	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:20766631A>T	ENST00000359062.3	+	3	1306	c.1266A>T	c.(1264-1266)ccA>ccT	p.P422P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	422					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.P422P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTGCTATTCCAAAGGTAGGTA	0.418																																							uc001reh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1264-1266)CCA>CCT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						57.0	57.0	57.0					12																	20766631		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766631A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1266A>T	12.37:g.20766631A>T							p.P422P	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1288	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	422					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1266A>T	CCDS31754.1																																																																																				0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			20	84	0	0	0	0.00333	0	20	84				
SLCO1B1	10599	broad.mit.edu	37	12	21391984	21391984	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:21391984C>A	ENST00000256958.2	+	15	2033	c.1937C>A	c.(1936-1938)gCc>gAc	p.A646D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	646					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A646D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ttaatttatGCCATGAAGAAA	0.274																																							uc001req.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1936-1938)GCC>GAC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						28.0	31.0	30.0					12																	21391984		2193	4292	6485	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21391984C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1937C>A	12.37:g.21391984C>A	ENSP00000256958:p.Ala646Asp						p.A646D	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			15	2041	+			646			Helical; Name=12; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1937C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018886	0.35606	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.17	0.212	0.15240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.990167	0.08191	N	0.983865	T	0.45115	0.1326	L	0.29908	0.895	0.09310	N	1	B	0.27068	0.167	B	0.33392	0.163	T	0.45614	-0.9249	10	0.56958	D	0.05	.	5.3117	0.15833	0.0:0.5724:0.0:0.4276	.	646	Q9Y6L6	SO1B1_HUMAN	D	646	ENSP00000256958:A646D	ENSP00000256958:A646D	A	+	2	0	SLCO1B1	21283251	0.000000	0.05858	0.008000	0.14137	0.634000	0.38068	-0.987000	0.03743	0.033000	0.15463	0.313000	0.20887	GCC		0.274	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		8	35	1	0	0.000274275	0.004482	0.000306341	8	35				
C2CD5	9847	broad.mit.edu	37	12	22624354	22624354	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:22624354C>A	ENST00000333957.4	-	20	2592	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L	C2CD5_ENST00000544930.1_Silent_p.L594L|C2CD5_ENST00000545552.1_Silent_p.L792L|C2CD5_ENST00000536386.1_Silent_p.L781L|C2CD5_ENST00000542676.1_Silent_p.L779L|C2CD5_ENST00000446597.1_Silent_p.L779L|C2CD5_ENST00000396028.2_Silent_p.L770L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	779					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.L779L(1)|p.L594L(1)									CATCTTCAGGCAGAGATACTG	0.303																																							uc001rfq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2335-2337)CTG>CTT		hypothetical protein LOC9847							63.0	67.0	65.0					12																	22624354		2203	4297	6500	SO:0001819	synonymous_variant	9847						protein binding	g.chr12:22624354C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2337G>T	12.37:g.22624354C>A						KIAA0528_uc010sir.1_Silent_p.L594L|KIAA0528_uc010sis.1_Silent_p.L779L|KIAA0528_uc010sit.1_Silent_p.L781L|KIAA0528_uc010siu.1_Silent_p.L779L|KIAA0528_uc001rfr.2_Silent_p.L770L	p.L779L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			20	2565	-			779					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	c.2337G>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887424	0.17540	.	.	ENSG00000111731	ENST00000539615	.	.	.	5.53	2.34	0.29019	.	.	.	.	.	T	0.59432	0.2193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54807	-0.8238	4	.	.	.	-9.5349	10.4038	0.44246	0.1743:0.6145:0.2112:0.0	.	.	.	.	F	63	.	.	C	-	2	0	KIAA0528	22515621	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.279000	0.18771	0.660000	0.30964	0.655000	0.94253	TGC		0.303	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		10	49	1	0	7.03913e-09	0.001368	9.64022e-09	10	49				
C12orf71	728858	broad.mit.edu	37	12	27234183	27234183	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:27234183G>T	ENST00000429849.2	-	2	764	c.734C>A	c.(733-735)gCa>gAa	p.A245E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	245								p.A245E(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TTTCGTTGGTGCTGACCGATG	0.478																																							uc001rhq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GCA>GAA		hypothetical protein LOC728858							77.0	77.0	77.0					12																	27234183		2040	4197	6237	SO:0001583	missense	728858							g.chr12:27234183G>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.734C>A	12.37:g.27234183G>T	ENSP00000413728:p.Ala245Glu						p.A245E	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			2	773	-			245						Missense_Mutation	SNP	ENST00000429849.2	37	c.734C>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140586	0.37825	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.54071	0.59	2.66	1.76	0.24704	.	0.581655	0.12860	U	0.433195	T	0.50956	0.1646	L	0.32530	0.975	0.09310	N	1	D	0.55172	0.97	P	0.56563	0.801	T	0.35425	-0.9789	10	0.87932	D	0	-1.9469	5.5297	0.16976	0.1596:0.0:0.8404:0.0	.	245	A8MTZ7	CL071_HUMAN	E	277;245	ENSP00000413728:A245E	ENSP00000381796:A277E	A	-	2	0	C12orf71	27125450	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.190000	0.09615	0.690000	0.31570	0.407000	0.27541	GCA		0.478	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		25	121	1	0	4.59853e-10	0.005443	6.59614e-10	25	121				
OVCH1	341350	broad.mit.edu	37	12	29629149	29629149	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29629149C>G	ENST00000318184.5	-	13	1460	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	487	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K487N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAACTTGTGCTTTTCTTCAG	0.403																																							uc001rix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1459-1461)AAG>AAC		ovochymase 1 precursor							181.0	175.0	177.0					12																	29629149		1914	4126	6040	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29629149C>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1461G>C	12.37:g.29629149C>G	ENSP00000326708:p.Lys487Asn						p.K487N	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			13	1461	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		487			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1461G>C		.	.	.	.	.	.	.	.	.	.	C	4.748	0.139119	0.09083	.	.	ENSG00000187950	ENST00000318184	T	0.58506	0.33	2.13	-2.08	0.07254	CUB (5);	.	.	.	.	T	0.37376	0.1001	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.19148	0.024	T	0.23154	-1.0196	9	0.59425	D	0.04	.	4.7213	0.12920	0.0:0.3771:0.1632:0.4597	.	487	Q7RTY7	OVCH1_HUMAN	N	487	ENSP00000326708:K487N	ENSP00000326708:K487N	K	-	3	2	OVCH1	29520416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.880000	0.01627	-0.637000	0.05516	-1.075000	0.02238	AAG		0.403	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		23	186	0	0	0	0.00333	0	23	186				
OVCH1	341350	broad.mit.edu	37	12	29640733	29640733	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29640733C>A	ENST00000318184.5	-	7	784	c.785G>T	c.(784-786)tGt>tTt	p.C262F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	262	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.C262F(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACCTCCAGCACAACCAGCTAC	0.458																																							uc001rix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(784-786)TGT>TTT		ovochymase 1 precursor							62.0	58.0	59.0					12																	29640733		1886	4132	6018	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29640733C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.785G>T	12.37:g.29640733C>A	ENSP00000326708:p.Cys262Phe						p.C262F	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			7	785	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		262			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.785G>T		.	.	.	.	.	.	.	.	.	.	C	3.688	-0.064079	0.07273	.	.	ENSG00000187950	ENST00000318184	D	0.95918	-3.85	2.1	-2.33	0.06724	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94036	0.8089	M	0.91354	3.2	0.09310	N	1	B	0.26445	0.149	B	0.19666	0.026	D	0.86303	0.1681	9	0.72032	D	0.01	.	2.306	0.04174	0.4188:0.2859:0.0:0.2954	.	262	Q7RTY7	OVCH1_HUMAN	F	262	ENSP00000326708:C262F	ENSP00000326708:C262F	C	-	2	0	OVCH1	29532000	0.008000	0.16893	0.000000	0.03702	0.039000	0.13416	0.337000	0.19841	-0.697000	0.05092	-0.181000	0.13052	TGT		0.458	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		5	11	1	0	0.000602214	0.000602	0.000663582	5	11				
DENND5B	160518	broad.mit.edu	37	12	31566471	31566471	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:31566471C>T	ENST00000389082.5	-	13	2844	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	DENND5B_ENST00000536562.1_Silent_p.K895K|DENND5B_ENST00000306833.6_Silent_p.K895K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	860	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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.K860K(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						CAACATCAGTCTTGATCTCAC	0.413																																							uc001rki.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2578-2580)AAG>AAA		DENN/MADD domain containing 5B							105.0	97.0	100.0					12																	31566471		1897	4124	6021	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31566471C>T	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.2580G>A	12.37:g.31566471C>T						DENND5B_uc001rkh.1_Silent_p.K895K|DENND5B_uc009zjq.1_Intron	p.K860K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			13	2766	-			860			RUN 1.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2580G>A	CCDS44857.1																																																																																				0.413	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	67	0	0	0	0.004482	0	7	67				
PKP2	5318	broad.mit.edu	37	12	33030954	33030954	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:33030954C>A	ENST00000070846.6	-	3	884	c.860G>T	c.(859-861)aGg>aTg	p.R287M	PKP2_ENST00000340811.4_Missense_Mutation_p.R287M	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	287					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.R287M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAGGAGGACCTGGAAGCCCT	0.642																																							uc001rlj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(859-861)AGG>ATG		plakophilin 2 isoform 2b							54.0	50.0	52.0					12																	33030954		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33030954C>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.860G>T	12.37:g.33030954C>A	ENSP00000070846:p.Arg287Met					PKP2_uc001rlk.3_Missense_Mutation_p.R287M|PKP2_uc010skj.1_Missense_Mutation_p.R287M	p.R287M	NM_004572	NP_004563	Q99959	PKP2_HUMAN			3	975	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		287					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.860G>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083415	0.36758	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.82803	-1.65;-1.56	5.46	3.62	0.41486	.	658.250000	0.00797	U	0.001388	D	0.86556	0.5961	L	0.50333	1.59	0.09310	N	1	P;P;P	0.52842	0.956;0.927;0.621	P;P;B	0.52267	0.694;0.498;0.299	T	0.70927	-0.4739	10	0.72032	D	0.01	0.3927	10.5087	0.44849	0.0:0.8438:0.0:0.1562	.	287;287;287	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	M	287	ENSP00000342800:R287M;ENSP00000070846:R287M	ENSP00000070846:R287M	R	-	2	0	PKP2	32922221	0.010000	0.17322	0.002000	0.10522	0.241000	0.25554	1.186000	0.32078	1.318000	0.45170	0.650000	0.86243	AGG		0.642	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		8	85	1	0	4.68919e-08	0.008291	6.21436e-08	8	85				
KIF21A	55605	broad.mit.edu	37	12	39751055	39751055	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:39751055C>A	ENST00000361418.5	-	9	1415	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	KIF21A_ENST00000361961.3_Missense_Mutation_p.R467I|KIF21A_ENST00000395670.3_Missense_Mutation_p.R467I|KIF21A_ENST00000544797.2_Missense_Mutation_p.R467I|KIF21A_ENST00000541463.2_Missense_Mutation_p.R467I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	467					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R467I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACCTGCTCTGGCAAGAAC	0.443																																							uc001rly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1399-1401)AGA>ATA		kinesin family member 21A							132.0	129.0	130.0					12																	39751055		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751055C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1400G>T	12.37:g.39751055C>A	ENSP00000354878:p.Arg467Ile					KIF21A_uc001rlx.2_Missense_Mutation_p.R467I|KIF21A_uc001rlz.2_Missense_Mutation_p.R467I|KIF21A_uc010skl.1_Missense_Mutation_p.R467I|KIF21A_uc001rma.1_Missense_Mutation_p.R475I	p.R467I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			9	1546	-		Lung NSC(34;0.179)|all_lung(34;0.213)	467			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1400G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386217	0.61956	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.82803	-0.56;-0.5;-0.56;-0.45;-0.54;-1.65	4.55	3.66	0.41972	.	0.110368	0.40064	N	0.001188	D	0.82508	0.5052	L	0.54323	1.7	0.45464	D	0.99843	B;P;B;P;B	0.44659	0.001;0.612;0.168;0.84;0.067	B;B;B;P;B	0.47015	0.01;0.203;0.043;0.534;0.113	T	0.82971	-0.0192	10	0.56958	D	0.05	.	12.8903	0.58068	0.0:0.9202:0.0:0.0798	.	467;467;467;467;467	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	I	467;467;467;467;467;467;290	ENSP00000354851:R467I;ENSP00000379029:R467I;ENSP00000445606:R467I;ENSP00000354878:R467I;ENSP00000438075:R467I;ENSP00000449700:R290I	ENSP00000344501:R467I	R	-	2	0	KIF21A	38037322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.986000	0.49370	1.037000	0.40024	0.655000	0.94253	AGA		0.443	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		33	123	1	0	8.69298e-16	0.006999	1.47227e-15	33	123				
CNTN1	1272	broad.mit.edu	37	12	41316138	41316138	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:41316138C>A	ENST00000551295.2	+	5	425	c.308C>A	c.(307-309)cCt>cAt	p.P103H	CNTN1_ENST00000347616.1_Missense_Mutation_p.P103H|CNTN1_ENST00000360099.3_Missense_Mutation_p.P103H|CNTN1_ENST00000348761.2_Missense_Mutation_p.P92H|CNTN1_ENST00000547702.1_Missense_Mutation_p.P103H|CNTN1_ENST00000547849.1_Missense_Mutation_p.P103H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	103	Ig-like C2-type 1.				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.P103H(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)				ATCAACAACCCTGACAAACAG	0.398																																							uc001rmm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(307-309)CCT>CAT		contactin 1 isoform 1 precursor							142.0	126.0	131.0					12																	41316138		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316138C>A	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.308C>A	12.37:g.41316138C>A	ENSP00000447006:p.Pro103His					CNTN1_uc009zjy.1_Missense_Mutation_p.P103H|CNTN1_uc001rmn.1_Missense_Mutation_p.P92H|CNTN1_uc001rmo.2_Missense_Mutation_p.P103H	p.P103H	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			5	421	+	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)	103			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.308C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906713	0.92107	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.65	5.65	0.86999	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64630	-0.6362	10	0.72032	D	0.01	.	20.1002	0.97872	0.0:1.0:0.0:0.0	.	103;92;103	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	H	103;103;103;103;103;92	ENSP00000448004:P103H;ENSP00000447006:P103H;ENSP00000448653:P103H;ENSP00000325660:P103H;ENSP00000353213:P103H;ENSP00000261160:P92H	ENSP00000325660:P103H	P	+	2	0	CNTN1	39602405	1.000000	0.71417	0.992000	0.48379	0.885000	0.51271	7.294000	0.78760	2.833000	0.97629	0.585000	0.79938	CCT		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		25	98	1	0	2.44723e-14	0.004656	3.99681e-14	25	98				
PRICKLE1	144165	broad.mit.edu	37	12	42860072	42860072	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:42860072C>A	ENST00000455697.1	-	6	984	c.699G>T	c.(697-699)aaG>aaT	p.K233N	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K233N|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K233N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K233N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K233N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	233	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K233N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGCGGCCGTCCTTCATGATAT	0.537																																							uc010skv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(697-699)AAG>AAT		prickle homolog 1							96.0	82.0	87.0					12																	42860072		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860072C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.699G>T	12.37:g.42860072C>A	ENSP00000401060:p.Lys233Asn					PRICKLE1_uc001rnl.2_Missense_Mutation_p.K233N|PRICKLE1_uc010skw.1_Missense_Mutation_p.K233N|PRICKLE1_uc001rnm.2_Missense_Mutation_p.K233N	p.K233N	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	986	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		233			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.699G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464583	0.84425	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.18	5.18	0.71444	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.70108	2.13	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.92514	0.6019	10	0.87932	D	0	-8.8504	12.426	0.55546	0.0:0.9229:0.0:0.0771	.	233	Q96MT3	PRIC1_HUMAN	N	233	ENSP00000401060:K233N;ENSP00000398947:K233N;ENSP00000448359:K233N;ENSP00000345064:K233N;ENSP00000449819:K233N	ENSP00000345064:K233N	K	-	3	2	PRICKLE1	41146339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.793000	0.47845	2.590000	0.87494	0.561000	0.74099	AAG		0.537	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			11	71	1	0	2.61681e-11	0.00245	3.92822e-11	11	71				
ANO6	196527	broad.mit.edu	37	12	45771878	45771878	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:45771878G>T	ENST00000320560.8	+	10	1349	c.1147G>T	c.(1147-1149)Gta>Tta	p.V383L	ANO6_ENST00000425752.2_Missense_Mutation_p.V383L|ANO6_ENST00000441606.2_Missense_Mutation_p.V365L|ANO6_ENST00000423947.3_Missense_Mutation_p.V404L|ANO6_ENST00000435642.1_Missense_Mutation_p.V383L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	383					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.V383L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTCTTTGCAGTATTTATGGG	0.323																																							uc001roo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1147-1149)GTA>TTA		anoctamin 6 isoform a							168.0	170.0	169.0					12																	45771878		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45771878G>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1147G>T	12.37:g.45771878G>T	ENSP00000320087:p.Val383Leu					ANO6_uc010sld.1_Missense_Mutation_p.V383L|ANO6_uc010sle.1_Missense_Mutation_p.V383L|ANO6_uc010slf.1_Missense_Mutation_p.V404L|ANO6_uc010slg.1_Missense_Mutation_p.V365L	p.V383L	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			10	1482	+			383			Helical; (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1147G>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547082	0.86022	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.38953	1.18	0.58432	D	0.999998	B;B;P;B	0.41131	0.333;0.043;0.739;0.364	B;B;P;B	0.47376	0.147;0.147;0.545;0.255	T	0.50541	-0.8816	10	0.27785	T	0.31	.	17.8702	0.88808	0.0:0.0:1.0:0.0	.	365;404;383;383	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	L	383;404;383;383;365	ENSP00000391417:V383L;ENSP00000409126:V404L;ENSP00000413840:V383L;ENSP00000320087:V383L;ENSP00000413137:V365L	ENSP00000320087:V383L	V	+	1	0	ANO6	44058145	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	4.642000	0.61383	2.826000	0.97356	0.655000	0.94253	GTA		0.323	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		26	127	1	0	1.16021e-09	0.007291	1.63442e-09	26	127				
ANO6	196527	broad.mit.edu	37	12	45771893	45771893	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:45771893T>A	ENST00000320560.8	+	10	1364	c.1162T>A	c.(1162-1164)Tgg>Agg	p.W388R	ANO6_ENST00000425752.2_Missense_Mutation_p.W388R|ANO6_ENST00000441606.2_Missense_Mutation_p.W370R|ANO6_ENST00000423947.3_Missense_Mutation_p.W409R|ANO6_ENST00000435642.1_Missense_Mutation_p.W388R|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	388					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.W388R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TATGGGAGTATGGGGTAAGTT	0.333																																							uc001roo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1162-1164)TGG>AGG		anoctamin 6 isoform a							135.0	140.0	138.0					12																	45771893		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45771893T>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1162T>A	12.37:g.45771893T>A	ENSP00000320087:p.Trp388Arg					ANO6_uc010sld.1_Missense_Mutation_p.W388R|ANO6_uc010sle.1_Missense_Mutation_p.W388R|ANO6_uc010slf.1_Missense_Mutation_p.W409R|ANO6_uc010slg.1_Missense_Mutation_p.W370R	p.W388R	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			10	1497	+			388			Helical; (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1162T>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006887	0.74932	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;1.0	D	0.92550	0.6049	10	0.87932	D	0	.	14.3961	0.67013	0.0:0.0:0.0:1.0	.	370;409;388;388	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	R	388;409;388;388;370	ENSP00000391417:W388R;ENSP00000409126:W409R;ENSP00000413840:W388R;ENSP00000320087:W388R;ENSP00000413137:W370R	ENSP00000320087:W388R	W	+	1	0	ANO6	44058160	1.000000	0.71417	0.934000	0.37439	0.983000	0.72400	5.103000	0.64578	2.279000	0.76181	0.533000	0.62120	TGG		0.333	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		21	112	0	0	0	0.002299	0	21	112				
RAPGEF3	10411	broad.mit.edu	37	12	48134466	48134466	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:48134466G>C	ENST00000449771.2	-	21	2278	c.2190C>G	c.(2188-2190)ccC>ccG	p.P730P	RAPGEF3_ENST00000548919.1_Silent_p.P639P|RAPGEF3_ENST00000171000.4_Silent_p.P688P|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000405493.2_Silent_p.P688P|RAPGEF3_ENST00000389212.3_Silent_p.P730P|RAPGEF3_ENST00000549151.1_Silent_p.P688P			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	730	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.P688P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTGGGCCCGGGGGCCGGGCA	0.652																																							uc009zkp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)|pancreas(1)	4						c.(2062-2064)CCC>CCG		Rap guanine nucleotide exchange factor 3 isoform							26.0	35.0	32.0					12																	48134466		2201	4299	6500	SO:0001819	synonymous_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134466G>C	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2190C>G	12.37:g.48134466G>C						uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_Silent_p.P23P|RAPGEF3_uc001rpx.2_Silent_p.P145P|RAPGEF3_uc010sln.1_Silent_p.P203P|RAPGEF3_uc001rpy.2_Intron|RAPGEF3_uc009zkq.2_Silent_p.P688P|RAPGEF3_uc001rpz.3_Silent_p.P730P	p.P688P	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	20	2504	-	Lung SC(27;0.192)		688					A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	c.2064C>G	CCDS41775.1																																																																																				0.652	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		9	59	0	0	0	0.001368	0	9	59				
DDX23	9416	broad.mit.edu	37	12	49239371	49239371	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49239371G>A	ENST00000308025.3	-	2	274	c.195C>T	c.(193-195)tcC>tcT	p.S65S	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	65	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S65S(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTGCAGATTTGGAACGGGAAC	0.478																																							uc001rsm.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(193-195)TCC>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							134.0	132.0	132.0					12																	49239371		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49239371G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.195C>T	12.37:g.49239371G>A							p.S65S	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			2	286	-			65			Arg-rich.		B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.195C>T	CCDS8770.1																																																																																				0.478	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		36	178	0	0	0	0.002852	0	36	178				
LMBR1L	55716	broad.mit.edu	37	12	49491726	49491726	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49491726C>A	ENST00000267102.8	-	16	1745		c.e16+1		LMBR1L_ENST00000395141.4_Splice_Site|LMBR1L_ENST00000547382.1_Splice_Site	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like						endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCCCTCTCACCAAAGGCCCG	0.577											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rth.3		NA																	2	Unknown(2)		lung(2)	pancreas(1)	1						c.e16+1		lipocalin-interacting membrane receptor							87.0	92.0	90.0					12																	49491726		2203	4300	6503	SO:0001630	splice_region_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49491726C>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1402+1G>T	12.37:g.49491726C>A			OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	LMBR1L_uc001rtg.3_Splice_Site_p.G463_splice|LMBR1L_uc001rti.3_Splice_Site_p.G448_splice	p.G468_splice	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			16	1744	-								Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Splice_Site	SNP	ENST00000267102.8	37	c.1402_splice	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575813	0.45902	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5478	0.91053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1L	47777993	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	7.778000	0.85637	2.687000	0.91594	0.563000	0.77884	.		0.577	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113	Intron	31	195	1	0	1.80694e-10	0.009535	2.64391e-10	31	195				
TUBA1B	10376	broad.mit.edu	37	12	49521755	49521755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49521755C>A	ENST00000336023.5	-	4	1436	c.1342G>T	c.(1342-1344)Gga>Tga	p.G448*	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	448					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G448*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TATTCCTCTCCTTCTTCCTCA	0.473																																							uc001rtm.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1342-1344)GGA>TGA		tubulin, alpha, ubiquitous							137.0	141.0	139.0					12																	49521755		2203	4300	6503	SO:0001587	stop_gained	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49521755C>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1342G>T	12.37:g.49521755C>A	ENSP00000336799:p.Gly448*					TUBA1B_uc001rto.2_Nonsense_Mutation_p.G413*|TUBA1B_uc001rtk.2_Nonsense_Mutation_p.G413*|TUBA1B_uc001rtl.2_Nonsense_Mutation_p.G413*|TUBA1B_uc001rtn.2_Nonsense_Mutation_p.G295*|uc010smg.1_5'UTR	p.G448*	NM_006082	NP_006073	P68363	TBA1B_HUMAN			4	1563	-			448					P04687|P05209|Q27I68|Q8WU19	Nonsense_Mutation	SNP	ENST00000336023.5	37	c.1342G>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517568	0.96416	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	.	.	.	5.45	4.56	0.56223	.	0.000000	0.44688	U	0.000427	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5821	0.68298	0.1473:0.8527:0.0:0.0	.	.	.	.	X	448;179	.	ENSP00000336799:G448X	G	-	1	0	TUBA1B	47808022	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.794000	0.69067	1.299000	0.44798	0.650000	0.86243	GGA		0.473	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		45	229	1	0	6.3237e-29	0.00361	1.20943e-28	45	229				
KCNH3	23416	broad.mit.edu	37	12	49951180	49951180	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49951180T>G	ENST00000257981.6	+	15	2956	c.2696T>G	c.(2695-2697)cTg>cGg	p.L899R	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	899					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L899R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGGAAGGACTGCAGTCACTT	0.667																																							uc001ruh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2695-2697)CTG>CGG		potassium voltage-gated channel, subfamily H							30.0	33.0	32.0					12																	49951180		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951180T>G	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2696T>G	12.37:g.49951180T>G	ENSP00000257981:p.Leu899Arg					KCNH3_uc010smj.1_Missense_Mutation_p.L839R	p.L899R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			15	2956	+			899			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2696T>G	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177165	0.57692	.	.	ENSG00000135519	ENST00000257981	D	0.99532	-6.1	4.94	4.94	0.65067	.	0.000000	0.35585	N	0.003105	D	0.98741	0.9577	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.99201	1.0873	10	0.87932	D	0	.	12.5825	0.56397	0.0:0.0:0.0:1.0	.	899	Q9ULD8	KCNH3_HUMAN	R	899	ENSP00000257981:L899R	ENSP00000257981:L899R	L	+	2	0	KCNH3	48237447	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	4.576000	0.60915	2.080000	0.62538	0.459000	0.35465	CTG		0.667	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		11	50	0	0	0	0.001368	0	11	50				
KCNH3	23416	broad.mit.edu	37	12	49951281	49951281	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49951281G>A	ENST00000257981.6	+	15	3057	c.2797G>A	c.(2797-2799)Ggg>Agg	p.G933R	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	933					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.G933R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCACCTCCGGGCTTCTGCA	0.687																																							uc001ruh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2797-2799)GGG>AGG		potassium voltage-gated channel, subfamily H							34.0	34.0	34.0					12																	49951281		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951281G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2797G>A	12.37:g.49951281G>A	ENSP00000257981:p.Gly933Arg					KCNH3_uc010smj.1_Missense_Mutation_p.G873R	p.G933R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			15	3057	+			933			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2797G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226421	0.39300	.	.	ENSG00000135519	ENST00000257981	D	0.98747	-5.11	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000551	D	0.97346	0.9132	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96886	0.9649	10	0.40728	T	0.16	.	13.2349	0.59965	0.0:0.0:1.0:0.0	.	933	Q9ULD8	KCNH3_HUMAN	R	933	ENSP00000257981:G933R	ENSP00000257981:G933R	G	+	1	0	KCNH3	48237548	0.991000	0.36638	0.989000	0.46669	0.742000	0.42306	2.269000	0.43346	2.505000	0.84491	0.462000	0.41574	GGG		0.687	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		7	36	0	0	0	0.00308	0	7	36				
CERS5	91012	broad.mit.edu	37	12	50529760	50529760	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:50529760G>A	ENST00000317551.6	-	7	853	c.729C>T	c.(727-729)atC>atT	p.I243I	CERS5_ENST00000422340.2_Silent_p.I185I	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	243	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.I243I(1)									GTAGACACATGATCAGAGTTC	0.428																																							uc001rwd.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)ATC>ATT		LAG1 homolog, ceramide synthase 5							134.0	124.0	127.0					12																	50529760		2203	4300	6503	SO:0001819	synonymous_variant	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50529760G>A		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.729C>T	12.37:g.50529760G>A						LASS5_uc001rwc.2_Silent_p.I162I|LASS5_uc001rwe.3_Silent_p.I184I|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_Silent_p.I99I	p.I243I	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN			7	746	-			243			Lumenal (Potential).|TLC.		B4DV54	Silent	SNP	ENST00000317551.6	37	c.729C>T	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.588|9.588	1.125405|1.125405	0.20959|0.20959	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550919|ENST00000550547;ENST00000547800	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.69214|0.69214	0.3086|0.3086	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67995|0.67995	-0.5526|-0.5526	4|4	.|.	.|.	.|.	-4.6975|-4.6975	14.3193|14.3193	0.66473|0.66473	0.0:0.1603:0.8397:0.0|0.0:0.1603:0.8397:0.0	.|.	.|.	.|.	.|.	Y|L	13|45;147	.|.	.|.	H|S	-|-	1|2	0|0	CERS5|CERS5	48816027|48816027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	1.312000|1.312000	0.33574|0.33574	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.428	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		22	217	0	0	0	0.00333	0	22	217				
SLC11A2	4891	broad.mit.edu	37	12	51385987	51385987	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:51385987G>A	ENST00000262051.7	-	13	1420	c.1333C>T	c.(1333-1335)Cta>Tta	p.L445L	SLC11A2_ENST00000541174.2_Silent_p.L445L|SLC11A2_ENST00000394904.3_Silent_p.L474L|SLC11A2_ENST00000546743.1_Silent_p.L366L|SLC11A2_ENST00000547198.1_Silent_p.L445L|SLC11A2_ENST00000545993.2_Silent_p.L441L|SLC11A2_ENST00000262052.5_Silent_p.L445L|SLC11A2_ENST00000547688.1_Silent_p.L474L	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	445					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.L445L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AAGCTCTGTAGAACATTCAGA	0.473																																							uc001rxe.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1333-1335)CTA>TTA		solute carrier family 11 (proton-coupled							139.0	117.0	124.0					12																	51385987		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51385987G>A	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1333C>T	12.37:g.51385987G>A						SLC11A2_uc001rxd.3_Silent_p.L294L|SLC11A2_uc001rxc.3_Silent_p.L445L|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Silent_p.L58L|SLC11A2_uc010smx.1_Silent_p.L441L|SLC11A2_uc001rxh.1_Silent_p.L445L|SLC11A2_uc001rxj.1_Silent_p.L445L|SLC11A2_uc001rxi.2_Silent_p.L445L|SLC11A2_uc001rxk.1_Silent_p.L474L|SLC11A2_uc010smy.1_Silent_p.L408L	p.L445L	NM_000617	NP_000608	P49281	NRAM2_HUMAN			13	1430	-			445			Helical; (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.1333C>T	CCDS53792.1																																																																																				0.473	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			7	120	0	0	0	0.004482	0	7	120				
SLC11A2	4891	broad.mit.edu	37	12	51390650	51390650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:51390650C>A	ENST00000262051.7	-	9	868	c.781G>T	c.(781-783)Gga>Tga	p.G261*	SLC11A2_ENST00000541174.2_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000394904.3_Nonsense_Mutation_p.G290*|SLC11A2_ENST00000546743.1_Nonsense_Mutation_p.G182*|SLC11A2_ENST00000547198.1_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000545993.2_Nonsense_Mutation_p.G257*|SLC11A2_ENST00000262052.5_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000547688.1_Nonsense_Mutation_p.G290*	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	261					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.G261*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGACAGCTCCCACGATGCCC	0.522																																							uc001rxe.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(781-783)GGA>TGA		solute carrier family 11 (proton-coupled							225.0	146.0	173.0					12																	51390650		2203	4300	6503	SO:0001587	stop_gained	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390650C>A	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.781G>T	12.37:g.51390650C>A	ENSP00000262051:p.Gly261*					SLC11A2_uc001rxd.3_Nonsense_Mutation_p.G110*|SLC11A2_uc001rxc.3_Nonsense_Mutation_p.G261*|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Nonsense_Mutation_p.G257*|SLC11A2_uc001rxh.1_Nonsense_Mutation_p.G261*|SLC11A2_uc001rxj.1_Nonsense_Mutation_p.G261*|SLC11A2_uc001rxi.2_Nonsense_Mutation_p.G261*|SLC11A2_uc001rxk.1_Nonsense_Mutation_p.G290*|SLC11A2_uc010smy.1_Nonsense_Mutation_p.G224*	p.G261*	NM_000617	NP_000608	P49281	NRAM2_HUMAN			9	878	-			261			Helical; (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Nonsense_Mutation	SNP	ENST00000262051.7	37	c.781G>T	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219940	0.98143	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	.	.	.	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3751	13.9515	0.64121	0.0:0.9259:0.0:0.0741	.	.	.	.	X	261;261;261;290;290;261;257;182	.	ENSP00000262051:G261X	G	-	1	0	SLC11A2	49676917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	1.449000	0.47699	0.655000	0.94253	GGA		0.522	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			12	91	1	0	5.50884e-06	0.001368	6.62272e-06	12	91				
SCN8A	6334	broad.mit.edu	37	12	52168053	52168053	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52168053C>G	ENST00000354534.6	+	20	3904	c.3726C>G	c.(3724-3726)atC>atG	p.I1242M	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1242M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1242					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.I1242M(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCACCTATATCTTCATCCTGG	0.493																																							uc001ryw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(3724-3726)ATC>ATG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						165.0	166.0	165.0					12																	52168053		2196	4300	6496	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52168053C>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3726C>G	12.37:g.52168053C>G	ENSP00000346534:p.Ile1242Met					SCN8A_uc010snl.1_Missense_Mutation_p.I1107M|SCN8A_uc001rza.1_RNA	p.I1242M	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	20	3904	+			1242			Helical; Name=S2 of repeat III; (Potential).|III.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3726C>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594946	0.66219	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.98947	-5.26;-4.6;-4.6	4.77	4.77	0.60923	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.98962	1.0798	10	0.87932	D	0	.	10.1795	0.42959	0.0:0.8453:0.0:0.1547	.	1242;1242	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	M	1242;1242;1242;1155	ENSP00000346534:I1242M;ENSP00000440360:I1242M;ENSP00000347255:I1242M	ENSP00000346534:I1242M	I	+	3	3	SCN8A	50454320	0.885000	0.30320	1.000000	0.80357	0.996000	0.88848	0.030000	0.13688	2.637000	0.89404	0.491000	0.48974	ATC		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		12	176	0	0	0	0.001855	0	12	176				
KRT6B	3854	broad.mit.edu	37	12	52845379	52845379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52845379C>A	ENST00000252252.3	-	1	531	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	162	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E162*(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCACGCTCCTCGGCCCGCACC	0.602																																							uc001sak.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(484-486)GAG>TAG		keratin 6B							53.0	71.0	65.0					12																	52845379		2203	4296	6499	SO:0001587	stop_gained	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845379C>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.484G>T	12.37:g.52845379C>A	ENSP00000252252:p.Glu162*						p.E162*	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	532	-			162			Head.		P48669	Nonsense_Mutation	SNP	ENST00000252252.3	37	c.484G>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141569	0.57044	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	.	.	.	3.28	2.39	0.29439	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1408	0.48402	0.0:0.9063:0.0:0.0937	.	.	.	.	X	162	.	ENSP00000252252:E162X	E	-	1	0	KRT6B	51131646	0.923000	0.31300	0.754000	0.31244	0.220000	0.24768	1.572000	0.36461	0.973000	0.38340	0.298000	0.19748	GAG		0.602	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		12	179	1	0	1.96292e-10	0.010504	2.86363e-10	12	179				
KRT5	3852	broad.mit.edu	37	12	52911461	52911461	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52911461C>A	ENST00000252242.4	-	5	1395	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	335	Linker 12.|Rod.				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.L335L(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGCTATCCAGGTCCAGGT	0.572																																							uc001san.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1003-1005)CTG>CTT		keratin 5							156.0	143.0	147.0					12																	52911461		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52911461C>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.1005G>T	12.37:g.52911461C>A						KRT5_uc009zmh.2_Silent_p.L335L	p.L335L	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1168	-			335			Linker 12.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1005G>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329557	0.24167	.	.	ENSG00000186081	ENST00000548409;ENST00000551188	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.697	0.51548	0.0:0.8071:0.1256:0.0674	.	.	.	.	X	43;150	.	.	G	-	1	0	KRT5	51197728	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.998000	0.29744	2.854000	0.98071	0.655000	0.94253	GGA		0.572	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			25	117	1	0	2.12542e-12	0.00632	3.30658e-12	25	117				
KRT71	112802	broad.mit.edu	37	12	52943891	52943891	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52943891T>C	ENST00000267119.5	-	2	647	c.578A>G	c.(577-579)gAg>gGg	p.E193G		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	193	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E193G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGACAGCGTCTCCAGCTGCTT	0.602																																							uc001sao.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(577-579)GAG>GGG		keratin 71							194.0	175.0	181.0					12																	52943891		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52943891T>C	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.578A>G	12.37:g.52943891T>C	ENSP00000267119:p.Glu193Gly						p.E193G	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	2	648	-			193			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.578A>G	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454988	0.63290	.	.	ENSG00000139648	ENST00000267119	D	0.89270	-2.49	5.49	5.49	0.81192	Filament (1);	0.000000	0.45606	D	0.000344	D	0.94394	0.8197	M	0.83384	2.64	0.58432	D	0.999991	D	0.67145	0.996	D	0.68039	0.955	D	0.95139	0.8262	10	0.87932	D	0	.	15.8956	0.79333	0.0:0.0:0.0:1.0	.	193	Q3SY84	K2C71_HUMAN	G	193	ENSP00000267119:E193G	ENSP00000267119:E193G	E	-	2	0	KRT71	51230158	1.000000	0.71417	0.998000	0.56505	0.079000	0.17450	6.251000	0.72441	2.224000	0.72417	0.459000	0.35465	GAG		0.602	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		24	223	0	0	0	0.009535	0	24	223				
KRT72	140807	broad.mit.edu	37	12	52992867	52992867	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52992867C>A	ENST00000537672.2	-	2	466	c.456G>T	c.(454-456)gtG>gtT	p.V152V	KRT72_ENST00000354310.4_Silent_p.V152V|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000293745.2_Silent_p.V152V|KRT72_ENST00000398066.3_5'UTR	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	152	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V152V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTCTCTAGCACCTGATTCT	0.557																																							uc001sar.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(454-456)GTG>GTT		keratin 72 isoform 1							98.0	89.0	92.0					12																	52992867		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52992867C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.456G>T	12.37:g.52992867C>A						KRT72_uc001saq.2_Silent_p.V152V|KRT72_uc010sns.1_Silent_p.V152V|KRT72_uc010snt.1_5'UTR	p.V152V	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	2	542	-			152			Coil 1A.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.456G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109076	0.20714	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	3.39	0.38822	.	.	.	.	.	T	0.56529	0.1991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	.	7.6616	0.28407	0.2091:0.6468:0.0:0.1441	.	.	.	.	S	149	.	.	A	-	1	0	KRT72	51279134	0.737000	0.28175	1.000000	0.80357	0.992000	0.81027	-0.008000	0.12788	0.844000	0.35094	0.561000	0.74099	GCT		0.557	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		20	118	1	0	1.2644e-06	0.010504	1.57408e-06	20	118				
HOXC12	3228	broad.mit.edu	37	12	54350313	54350313	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:54350313G>C	ENST00000243103.3	+	2	908	c.812G>C	c.(811-813)aGa>aCa	p.R271T	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	271					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R271T(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAAAAGAAAAGACTTCTGTTG	0.542																																							uc010soq.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(811-813)AGA>ACA		homeobox C12							86.0	94.0	91.0					12																	54350313		2203	4300	6503	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54350313G>C	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.812G>C	12.37:g.54350313G>C	ENSP00000243103:p.Arg271Thr						p.R271T	NM_173860	NP_776272	P31275	HXC12_HUMAN			2	812	+			271			Homeobox.		Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.812G>C	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995955	0.74703	.	.	ENSG00000123407	ENST00000243103	D	0.96522	-4.04	4.2	4.2	0.49525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000001	D	0.98520	0.9506	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99771	1.1024	10	0.87932	D	0	.	15.6972	0.77509	0.0:0.0:1.0:0.0	.	271	P31275	HXC12_HUMAN	T	271	ENSP00000243103:R271T	ENSP00000243103:R271T	R	+	2	0	HOXC12	52636580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.430000	0.97488	2.052000	0.61016	0.462000	0.41574	AGA		0.542	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		18	234	0	0	0	0.007413	0	18	234				
PDE1B	5153	broad.mit.edu	37	12	54963069	54963070	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:54963069_54963070GG>TT	ENST00000243052.3	+	4	765_766	c.329_330GG>TT	c.(328-330)cGG>cTT	p.R110L	PDE1B_ENST00000550620.1_Missense_Mutation_p.R90L|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R110L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CAGCAGGCCCGGGCCAAAGGCC	0.644																																							uc001sgd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(328-330)CGG>CTT		phosphodiesterase 1B isoform 1																																				SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963069_54963070GG>TT	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	Exception_encountered	12.37:g.54963069_54963070delinsTT	ENSP00000243052:p.Arg110Leu					PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Missense_Mutation_p.R69L|PDE1B_uc001sgf.2_5'UTR|PDE1B_uc001sge.2_Missense_Mutation_p.R90L|PDE1B_uc009znq.2_Intron	p.R110L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			4	495_496	+			110					Q92825|Q96KP3	Missense_Mutation	DNP	ENST00000243052.3	37	c.329_330GG>TT	CCDS8882.1																																																																																				0.644	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			9	86	0	0	0	0.004672	0	9	86				
NACA	4666	broad.mit.edu	37	12	57106635	57106635	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57106635C>G	ENST00000454682.1	-	8	6438	c.6157G>C	c.(6157-6159)Gtg>Ctg	p.V2053L	NACA_ENST00000551793.1_5'Flank|NACA_ENST00000356769.3_Missense_Mutation_p.V190L|NACA_ENST00000552540.1_Missense_Mutation_p.V190L|NACA_ENST00000550952.1_Missense_Mutation_p.V900L|NACA_ENST00000546392.1_Missense_Mutation_p.V190L|NACA_ENST00000548563.1_Missense_Mutation_p.V111L|NACA_ENST00000393891.4_Missense_Mutation_p.V190L	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2053	UBA.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V2053L(1)|p.V900L(1)|p.V190L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTCTCGACACATTTGCTTGT	0.418			T	BCL6	NHL																																		uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(568-570)GTG>CTG		nascent polypeptide-associated complex alpha							205.0	182.0	190.0					12																	57106635		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106635C>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6157G>C	12.37:g.57106635C>G	ENSP00000403817:p.Val2053Leu					NACA_uc001sly.2_Missense_Mutation_p.V190L|NACA_uc009zoy.1_Missense_Mutation_p.V2053L|NACA_uc001smc.2_Missense_Mutation_p.V190L|NACA_uc001sma.2_Missense_Mutation_p.V900L|NACA_uc001smb.2_Missense_Mutation_p.V190L|NACA_uc010squ.1_RNA	p.V190L	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			7	917	-			190			UBA.			Missense_Mutation	SNP	ENST00000454682.1	37	c.568G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640775	0.87859	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259	T;T;T;T;T;T;T;T	0.63096	0.39;0.12;-0.02;0.41;0.41;0.41;0.41;0.4	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.93375	3.41	0.54753	D	0.999988	D;D;P	0.67145	0.978;0.996;0.838	P;D;B	0.72075	0.867;0.976;0.301	D	0.88252	0.2917	10	0.72032	D	0.01	.	18.4096	0.90546	0.0:1.0:0.0:0.0	.	2053;900;190	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	L	188;2053;900;190;190;190;111;190;190	ENSP00000448039:V188L;ENSP00000403817:V2053L;ENSP00000448035:V900L;ENSP00000349212:V190L;ENSP00000447821:V190L;ENSP00000377469:V190L;ENSP00000446801:V190L;ENSP00000447133:V190L	ENSP00000349212:V190L	V	-	1	0	NACA	55392902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.664000	0.83830	2.653000	0.90120	0.557000	0.71058	GTG		0.418	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	186	0	0	0	0.003163	0	13	186				
SDR9C7	121214	broad.mit.edu	37	12	57317743	57317743	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57317743G>T	ENST00000293502.1	-	4	959	c.816C>A	c.(814-816)agC>agA	p.S272R		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	272					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)	p.S272R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGATGCGAGGGCTCCGGGAAA	0.512																																							uc010sqw.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(814-816)AGC>AGA		short chain dehydrogenase/reductase family 9C,							152.0	113.0	127.0					12																	57317743		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57317743G>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.816C>A	12.37:g.57317743G>T	ENSP00000293502:p.Ser272Arg						p.S272R	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			4	816	-			272					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.816C>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995829	0.35226	.	.	ENSG00000170426	ENST00000293502	D	0.84223	-1.82	5.52	-2.82	0.05787	NAD(P)-binding domain (1);	0.382963	0.27214	N	0.020390	T	0.69967	0.3170	L	0.29908	0.895	0.24591	N	0.993829	B	0.02656	0.0	B	0.04013	0.001	T	0.54563	-0.8275	10	0.26408	T	0.33	.	7.1069	0.25368	0.5712:0.0:0.3089:0.1199	.	272	Q8NEX9	DR9C7_HUMAN	R	272	ENSP00000293502:S272R	ENSP00000293502:S272R	S	-	3	2	SDR9C7	55604010	0.021000	0.18746	0.880000	0.34516	0.893000	0.52053	0.260000	0.18424	-0.361000	0.08125	-0.897000	0.02905	AGC		0.512	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		10	99	1	0	5.50884e-06	0.001368	6.62272e-06	10	99				
STAT6	6778	broad.mit.edu	37	12	57496082	57496082	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57496082C>A	ENST00000300134.3	-	13	1828	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H	STAT6_ENST00000537215.2_Missense_Mutation_p.Q391H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q501H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q501H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q391H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q501H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	501					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q501H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTGTTGAACTGCGACCAGG	0.587																																							uc009zpe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1501-1503)CAG>CAT		signal transducer and activator of transcription							167.0	144.0	151.0					12																	57496082		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57496082C>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1503G>T	12.37:g.57496082C>A	ENSP00000300134:p.Gln501His					STAT6_uc009zpf.2_Missense_Mutation_p.Q501H|STAT6_uc001sna.2_Missense_Mutation_p.Q501H|STAT6_uc010srb.1_Missense_Mutation_p.Q391H|STAT6_uc010src.1_Missense_Mutation_p.Q391H|STAT6_uc010srd.1_Missense_Mutation_p.Q391H|STAT6_uc009zpg.2_Missense_Mutation_p.Q550H	p.Q501H	NM_003153	NP_003144	P42226	STAT6_HUMAN			13	1754	-			501					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1503G>T	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478006|4.478006	0.84747|0.84747	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375|ENST00000553533	D;D;D;D;D;D;D|.	0.88431|.	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38|.	4.88|4.88	3.99|3.99	0.46301|0.46301	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74222|0.74222	0.3688|0.3688	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.75747|0.75747	-0.3209|-0.3209	10|5	0.87932|.	D|.	0|.	-18.4979|-18.4979	10.8305|10.8305	0.46656|0.46656	0.0:0.9082:0.0:0.0918|0.0:0.9082:0.0:0.0918	.|.	501;501|.	A8K4S9;P42226|.	.;STAT6_HUMAN|.	H|F	501;391;391;501;501;391;501;391;501;67|202	ENSP00000300134:Q501H;ENSP00000445409:Q391H;ENSP00000438451:Q501H;ENSP00000451742:Q501H;ENSP00000444530:Q391H;ENSP00000401486:Q501H;ENSP00000450921:Q67H|.	ENSP00000300134:Q501H|.	Q|V	-|-	3|1	2|0	STAT6|STAT6	55782349|55782349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.651000|7.651000	0.83577|0.83577	1.297000|1.297000	0.44761|0.44761	0.650000|0.650000	0.86243|0.86243	CAG|GTT		0.587	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		54	274	1	0	7.37877e-41	0.00361	1.45505e-40	54	274				
LRP1	4035	broad.mit.edu	37	12	57559898	57559898	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57559898G>T	ENST00000243077.3	+	17	3169	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	901	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.K901N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGATTCAAGTGCGAGAACA	0.592																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2701-2703)AAG>AAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						105.0	86.0	92.0					12																	57559898		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559898G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2703G>T	12.37:g.57559898G>T	ENSP00000243077:p.Lys901Asn					LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	p.K901N	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	17	3169	+			901			Extracellular (Potential).|LDL-receptor class A 4.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2703G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372757	0.82573	.	.	ENSG00000123384	ENST00000243077	D	0.95622	-3.76	5.22	2.38	0.29361	.	0.000000	0.64402	D	0.000001	D	0.96182	0.8755	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93746	0.7054	10	0.34782	T	0.22	.	8.7552	0.34641	0.3006:0.0:0.6994:0.0	.	901	Q07954	LRP1_HUMAN	N	901	ENSP00000243077:K901N	ENSP00000243077:K901N	K	+	3	2	LRP1	55846165	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	0.827000	0.27421	0.445000	0.26639	0.655000	0.94253	AAG		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		10	68	1	0	5.35267e-07	0.007413	6.77867e-07	10	68				
GLI1	2735	broad.mit.edu	37	12	57861912	57861912	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57861912C>G	ENST00000228682.2	+	10	1304	c.1213C>G	c.(1213-1215)Cgg>Ggg	p.R405G	GLI1_ENST00000543426.1_Missense_Mutation_p.R277G|GLI1_ENST00000546141.1_Missense_Mutation_p.R364G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	405					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R405G(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCCCTGCCTCGGGCACCATC	0.592																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1213-1215)CGG>GGG		GLI family zinc finger 1 isoform 1							59.0	51.0	54.0					12																	57861912		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861912C>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1213C>G	12.37:g.57861912C>G	ENSP00000228682:p.Arg405Gly					GLI1_uc009zpq.2_Missense_Mutation_p.R277G	p.R405G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1291	+			405					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1213C>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953348	0.18431	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14391	2.61;2.51;2.59;2.59	4.42	2.56	0.30785	.	0.341686	0.20992	N	0.082006	T	0.08846	0.0219	N	0.22421	0.69	0.44227	D	0.997061	B	0.28713	0.22	B	0.34385	0.181	T	0.29181	-1.0020	10	0.20519	T	0.43	.	6.428	0.21780	0.3209:0.5919:0.0:0.0872	.	405	P08151	GLI1_HUMAN	G	277;405;364;364;277	ENSP00000437607:R277G;ENSP00000228682:R405G;ENSP00000441006:R364G;ENSP00000434408:R364G	ENSP00000228682:R405G	R	+	1	2	GLI1	56148179	0.725000	0.28048	0.989000	0.46669	0.022000	0.10575	1.735000	0.38176	0.583000	0.29574	-0.140000	0.14226	CGG		0.592	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		5	62	0	0	0	0.00308	0	5	62				
KIF5A	3798	broad.mit.edu	37	12	57965898	57965898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57965898C>A	ENST00000455537.2	+	14	1691	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	KIF5A_ENST00000286452.5_Missense_Mutation_p.L384M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	473					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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.L473M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTGAGCCACCTGCAATCAGA	0.582																																							uc001sor.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1417-1419)CTG>ATG		kinesin family member 5A							82.0	73.0	76.0					12																	57965898		2202	4300	6502	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57965898C>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1417C>A	12.37:g.57965898C>A	ENSP00000408979:p.Leu473Met					KIF5A_uc010srr.1_Missense_Mutation_p.L384M	p.L473M	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			14	1625	+			473					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1417C>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032592	0.75504	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.83755	-1.76;-1.76	4.93	3.1	0.35709	.	0.000000	0.64402	D	0.000002	D	0.89044	0.6603	M	0.78049	2.395	0.54753	D	0.999988	D;D	0.62365	0.991;0.991	D;D	0.68353	0.957;0.957	D	0.88052	0.2788	10	0.51188	T	0.08	.	10.4527	0.44531	0.0:0.8386:0.0:0.1614	.	384;473	B7Z2M7;Q12840	.;KIF5A_HUMAN	M	473;384	ENSP00000408979:L473M;ENSP00000286452:L384M	ENSP00000286452:L384M	L	+	1	2	KIF5A	56252165	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.241000	0.51376	0.802000	0.34089	0.655000	0.94253	CTG		0.582	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		8	56	1	0	4.68919e-08	0.008291	6.21436e-08	8	56				
PIP4K2C	79837	broad.mit.edu	37	12	57987870	57987870	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57987870C>A	ENST00000354947.5	+	2	253	c.237C>A	c.(235-237)agC>agA	p.S79R	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S79R|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S79R|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S79R			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	79	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.S79R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TTAAGGCCAGCTCCAAGATCA	0.448																																							uc001sou.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(235-237)AGC>AGA		phosphatidylinositol-5-phosphate 4-kinase, type							120.0	101.0	107.0					12																	57987870		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57987870C>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.237C>A	12.37:g.57987870C>A	ENSP00000347032:p.Ser79Arg					PIP4K2C_uc001sot.2_Missense_Mutation_p.S79R|PIP4K2C_uc010srs.1_Missense_Mutation_p.S79R|PIP4K2C_uc010srt.1_Missense_Mutation_p.S79R	p.S79R	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			2	368	+	Melanoma(17;0.122)		79			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.237C>A	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346370	0.61073	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.46451	1.56;1.56;0.87;1.56;1.56	4.62	4.62	0.57501	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.100436	0.64402	D	0.000003	T	0.19685	0.0473	N	0.04959	-0.14	0.36975	D	0.894033	P;B;B	0.36789	0.57;0.014;0.389	B;B;B	0.40038	0.317;0.017;0.174	T	0.18366	-1.0339	10	0.08179	T	0.78	-13.22	7.1319	0.25507	0.0:0.8151:0.0:0.1849	.	79;79;79	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	R	79;79;79;58;79;79	ENSP00000412035:S79R;ENSP00000439878:S79R;ENSP00000450197:S58R;ENSP00000447390:S79R;ENSP00000347032:S79R	ENSP00000347032:S79R	S	+	3	2	PIP4K2C	56274137	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.663000	0.37429	2.562000	0.86427	0.563000	0.77884	AGC		0.448	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		9	52	1	0	0.000978159	0.000978	0.00106767	9	52				
DTX3	196403	broad.mit.edu	37	12	58000747	58000747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:58000747C>T	ENST00000548198.1	+	3	1605	c.101C>T	c.(100-102)cCa>cTa	p.P34L	DTX3_ENST00000551632.1_Missense_Mutation_p.P37L|DTX3_ENST00000548804.1_Missense_Mutation_p.P34L|DTX3_ENST00000337737.3_Missense_Mutation_p.P34L			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	34					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P34L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAAGAGACCCCAGCCCGGCTG	0.587																																							uc001sow.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(100-102)CCA>CTA		deltex homolog 3							139.0	154.0	149.0					12																	58000747		1963	4150	6113	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58000747C>T	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.101C>T	12.37:g.58000747C>T	ENSP00000447873:p.Pro34Leu					DTX3_uc001sov.1_Missense_Mutation_p.P27L|DTX3_uc001sox.1_Missense_Mutation_p.P27L|DTX3_uc001soy.1_Missense_Mutation_p.P27L	p.P34L	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	438	+	Melanoma(17;0.122)		34					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.101C>T	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934666	0.73442	.	.	ENSG00000178498	ENST00000548804;ENST00000551835;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.53640	1.3;0.61;1.3;1.3;1.3;0.71	3.87	3.87	0.44632	.	0.193513	0.33938	N	0.004419	T	0.50017	0.1591	N	0.19112	0.55	0.53005	D	0.999968	D	0.64830	0.994	P	0.62885	0.908	T	0.55717	-0.8097	10	0.59425	D	0.04	-0.0076	13.7045	0.62629	0.0:1.0:0.0:0.0	.	34	Q8N9I9	DTX3_HUMAN	L	34;34;37;34;34;37;27	ENSP00000449294:P34L;ENSP00000449688:P37L;ENSP00000338050:P34L;ENSP00000447873:P34L;ENSP00000448696:P37L;ENSP00000448224:P27L	ENSP00000338050:P34L	P	+	2	0	DTX3	56287014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	1.877000	0.54381	0.462000	0.41574	CCA		0.587	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		28	543	0	0	0	0.002096	0	28	543				
AVPR1A	552	broad.mit.edu	37	12	63543865	63543865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:63543865G>T	ENST00000299178.2	-	1	857	c.752C>A	c.(751-753)aCg>aAg	p.T251K		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	251					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.T251M(1)|p.T251K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCGCGACGCCGTCTTCCCGCG	0.617																																							uc001sro.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(751-753)ACG>AAG		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						94.0	95.0	94.0					12																	63543865		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543865G>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.752C>A	12.37:g.63543865G>T	ENSP00000299178:p.Thr251Lys						p.T251K	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2726	-			251			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.752C>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059465	0.76074	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.71103	-0.54;-0.54	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.100994	0.64402	D	0.000003	T	0.75413	0.3846	L	0.48260	1.515	0.50313	D	0.999866	P	0.45240	0.854	P	0.53185	0.72	T	0.73202	-0.4057	9	.	.	.	-20.7442	17.509	0.87755	0.0:0.0:1.0:0.0	.	251	P37288	V1AR_HUMAN	K	32;251	ENSP00000449822:T32K;ENSP00000299178:T251K	.	T	-	2	0	AVPR1A	61830132	0.995000	0.38212	0.779000	0.31741	0.916000	0.54674	2.216000	0.42871	2.464000	0.83262	0.455000	0.32223	ACG		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			26	146	1	0	7.01153e-11	0.007291	1.03672e-10	26	146				
C12orf66	144577	broad.mit.edu	37	12	64609540	64609540	+	Missense_Mutation	SNP	A	A	T	rs545543526		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:64609540A>T	ENST00000398055.3	-	2	492	c.439T>A	c.(439-441)Tac>Aac	p.Y147N	C12orf66_ENST00000311915.8_Missense_Mutation_p.Y147N|C12orf66_ENST00000544871.1_Missense_Mutation_p.Y94N	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	147								p.Y147N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTGAGGGTGTACATCTTCTCA	0.507																																							uc001srw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)TAC>AAC		hypothetical protein LOC144577							76.0	74.0	74.0					12																	64609540		2001	4186	6187	SO:0001583	missense	144577							g.chr12:64609540A>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.439T>A	12.37:g.64609540A>T	ENSP00000381132:p.Tyr147Asn					C12orf66_uc009zql.2_Missense_Mutation_p.Y94N	p.Y147N	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			2	498	-			147					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.439T>A	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834169	0.50951	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.33438	1.41;1.41;1.41	5.95	5.95	0.96441	.	0.050639	0.85682	D	0.000000	T	0.31231	0.0790	L	0.55481	1.735	0.58432	D	0.999999	P;B	0.36535	0.557;0.224	B;B	0.34242	0.178;0.062	T	0.04373	-1.0956	9	.	.	.	-16.8926	16.4052	0.83662	1.0:0.0:0.0:0.0	.	94;147	F5H2Q3;Q96MD2	.;CL066_HUMAN	N	147;94;147	ENSP00000311486:Y147N;ENSP00000445481:Y94N;ENSP00000381132:Y147N	.	Y	-	1	0	C12orf66	62895807	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.965000	0.70387	2.279000	0.76181	0.402000	0.26972	TAC		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		4	41	0	0	0	0.009096	0	4	41				
CPSF6	11052	broad.mit.edu	37	12	69656269	69656269	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:69656269A>G	ENST00000435070.2	+	9	1696	c.1586A>G	c.(1585-1587)gAg>gGg	p.E529G	CPSF6_ENST00000266679.8_Missense_Mutation_p.E566G|CPSF6_ENST00000456847.3_Missense_Mutation_p.E456G|CPSF6_ENST00000551516.1_Missense_Mutation_p.R32G	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	529	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E529G(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAGAACGAGAGAGGCACCGG	0.502																																							uc001sut.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1585-1587)GAG>GGG		cleavage and polyadenylation specific factor 6,							191.0	141.0	158.0					12																	69656269		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69656269A>G	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1586A>G	12.37:g.69656269A>G	ENSP00000391774:p.Glu529Gly					CPSF6_uc001suu.3_Missense_Mutation_p.E566G|CPSF6_uc010stk.1_Missense_Mutation_p.E161G	p.E529G	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		9	1696	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		529			Sufficient for nuclear targeting.|Arg-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1586A>G	CCDS8988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.11|19.11	3.764868|3.764868	0.69878|0.69878	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679|ENST00000551516	T;T;T|.	0.63096|.	-0.02;-0.02;-0.02|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.043398|.	0.85682|.	D|.	0.000000|.	T|T	0.72153|0.72153	0.3425|0.3425	M|M	0.64997|0.64997	1.995|1.995	0.38470|0.38470	D|D	0.94745|0.94745	B;P;P|.	0.40731|.	0.02;0.728;0.455|.	B;B;B|.	0.36186|.	0.005;0.219;0.055|.	T|T	0.73471|0.73471	-0.3972|-0.3972	9|5	.|.	.|.	.|.	-10.3431|-10.3431	16.0234|16.0234	0.80516|0.80516	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	278;566;529|.	B4DSU9;Q16630-2;Q16630|.	.;.;CPSF6_HUMAN|.	G|G	529;456;566|32	ENSP00000391774:E529G;ENSP00000391437:E456G;ENSP00000266679:E566G|.	.|.	E|R	+|+	2|1	0|2	CPSF6|CPSF6	67942536|67942536	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.339000|9.339000	0.96797|0.96797	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.502	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		8	100	0	0	0	0.00308	0	8	100				
CPSF6	11052	broad.mit.edu	37	12	69656271	69656271	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:69656271A>G	ENST00000435070.2	+	9	1698	c.1588A>G	c.(1588-1590)Agg>Ggg	p.R530G	CPSF6_ENST00000266679.8_Missense_Mutation_p.R567G|CPSF6_ENST00000456847.3_Missense_Mutation_p.R457G|CPSF6_ENST00000551516.1_Silent_p.R32R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	530	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R530G(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAACGAGAGAGGCACCGGGA	0.502																																							uc001sut.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1588-1590)AGG>GGG		cleavage and polyadenylation specific factor 6,							193.0	142.0	159.0					12																	69656271		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69656271A>G	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1588A>G	12.37:g.69656271A>G	ENSP00000391774:p.Arg530Gly					CPSF6_uc001suu.3_Missense_Mutation_p.R567G|CPSF6_uc010stk.1_Missense_Mutation_p.R162G	p.R530G	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		9	1698	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		530			Sufficient for nuclear targeting.|Arg-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1588A>G	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654153	0.47362	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.61742	0.08;0.08;0.08	5.74	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	M	0.76574	2.34	0.80722	D	1	P;D;D	0.61080	0.945;0.989;0.967	P;D;P	0.72625	0.765;0.978;0.879	T	0.74717	-0.3571	9	.	.	.	-12.4474	12.993	0.58630	0.8648:0.1352:0.0:0.0	.	279;567;530	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	G	530;457;567	ENSP00000391774:R530G;ENSP00000391437:R457G;ENSP00000266679:R567G	.	R	+	1	2	CPSF6	67942538	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.676000	0.61627	1.093000	0.41377	-0.321000	0.08615	AGG		0.502	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		8	97	0	0	0	0.00308	0	8	97				
CNOT2	4848	broad.mit.edu	37	12	70713103	70713103	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:70713103G>T	ENST00000418359.3	+	5	648	c.197G>T	c.(196-198)gGt>gTt	p.G66V	CNOT2_ENST00000229195.3_Missense_Mutation_p.G66V	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	66					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.G66V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCTACATCAGGTCAGCTGTCT	0.343																																							uc001svv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GGT>GTT		CCR4-NOT transcription complex, subunit 2							116.0	117.0	116.0					12																	70713103		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70713103G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.197G>T	12.37:g.70713103G>T	ENSP00000412091:p.Gly66Val					CNOT2_uc009zro.2_Missense_Mutation_p.G66V|CNOT2_uc009zrp.2_Missense_Mutation_p.G46V|CNOT2_uc009zrq.2_Missense_Mutation_p.G66V	p.G66V	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	776	+	Renal(347;0.236)		66					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.197G>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037291	0.54896	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.53640	0.61;0.61;0.64;0.61	5.29	4.36	0.52297	.	0.229718	0.44285	D	0.000469	T	0.38772	0.1053	L	0.29908	0.895	0.80722	D	1	B	0.34372	0.451	B	0.33750	0.169	T	0.35822	-0.9773	10	0.59425	D	0.04	-1.6195	15.8541	0.78960	0.0:0.1362:0.8638:0.0	.	66	Q9NZN8	CNOT2_HUMAN	V	66;66;66;66;46;66;57;46;57;66;66;57;66	ENSP00000229195:G66V;ENSP00000412091:G66V;ENSP00000449659:G57V;ENSP00000449260:G66V	ENSP00000229195:G66V	G	+	2	0	CNOT2	68999370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	1.294000	0.44707	0.460000	0.39030	GGT		0.343	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			11	90	1	0	0.00244969	0.00245	0.00262725	11	90				
CNOT2	4848	broad.mit.edu	37	12	70713110	70713110	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:70713110G>T	ENST00000418359.3	+	5	655	c.204G>T	c.(202-204)ctG>ctT	p.L68L	CNOT2_ENST00000229195.3_Silent_p.L68L	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.L68L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAGGTCAGCTGTCTCAGTTTG	0.333																																							uc001svv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)CTG>CTT		CCR4-NOT transcription complex, subunit 2							118.0	119.0	119.0					12																	70713110		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70713110G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.204G>T	12.37:g.70713110G>T						CNOT2_uc009zro.2_Silent_p.L68L|CNOT2_uc009zrp.2_Silent_p.L48L|CNOT2_uc009zrq.2_Silent_p.L68L	p.L68L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	783	+	Renal(347;0.236)		68					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.204G>T	CCDS31857.1																																																																																				0.333	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			21	83	1	0	4.7796e-09	0.004656	6.57321e-09	21	83				
TSPAN8	7103	broad.mit.edu	37	12	71531812	71531812	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:71531812T>C	ENST00000393330.2	-	9	917	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TSPAN8_ENST00000247829.3_Missense_Mutation_p.Y122C|TSPAN8_ENST00000546561.1_Missense_Mutation_p.Y122C|TSPAN8_ENST00000552128.1_Missense_Mutation_p.Y39C|TSPAN8_ENST00000552786.1_5'Flank			P19075	TSN8_HUMAN	tetraspanin 8	122					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y122C(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGTGTTTTCATAGAGAGTTTC	0.333																																							uc009zrt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(364-366)TAT>TGT		transmembrane 4 superfamily member 3							157.0	152.0	154.0					12																	71531812		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71531812T>C	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.365A>G	12.37:g.71531812T>C	ENSP00000377003:p.Tyr122Cys					TSPAN8_uc001swk.1_Missense_Mutation_p.Y122C|TSPAN8_uc001swj.1_Missense_Mutation_p.Y122C	p.Y122C	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		5	527	-			122			Extracellular (Potential).		B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.365A>G	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046472	0.36085	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.42513	0.97;0.97;0.97;2.5	5.71	2.08	0.27032	Tetraspanin, EC2 domain (1);	0.671792	0.15826	N	0.242744	T	0.45418	0.1341	M	0.63843	1.955	0.09310	N	1	D	0.61697	0.99	P	0.53185	0.72	T	0.31336	-0.9947	10	0.45353	T	0.12	.	3.7626	0.08610	0.158:0.1699:0.0:0.6721	.	122	P19075	TSN8_HUMAN	C	122;122;122;39	ENSP00000377003:Y122C;ENSP00000247829:Y122C;ENSP00000447160:Y122C;ENSP00000449820:Y39C	ENSP00000247829:Y122C	Y	-	2	0	TSPAN8	69818079	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.025000	0.03600	0.113000	0.18004	0.533000	0.62120	TAT		0.333	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		19	125	0	0	0	0.001882	0	19	125				
TRHDE	29953	broad.mit.edu	37	12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413																																							uc001sxa.2		NA																	3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(952-954)ACG>ATG		thyrotropin-releasing hormone degrading enzyme							157.0	147.0	151.0					12																	72680634		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680634C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.953C>T	12.37:g.72680634C>T	ENSP00000261180:p.Thr318Met						p.T318M	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	983	+			318			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.953C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753464	0.69648	.	.	ENSG00000072657	ENST00000261180	T	0.05025	3.51	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.49256	1.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00002	-1.2612	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	318	Q9UKU6	TRHDE_HUMAN	M	318	ENSP00000261180:T318M	ENSP00000261180:T318M	T	+	2	0	TRHDE	70966901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	ACG		0.413	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		20	153	0	0	0	0.007413	0	20	153				
BBS10	79738	broad.mit.edu	37	12	76742009	76742009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:76742009C>A	ENST00000393262.3	-	1	213	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	44					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.E44*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGAAGCACCTCGCCAGTGGGC	0.647									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001syd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(130-132)GAG>TAG		Bardet-Biedl syndrome 10							31.0	35.0	34.0					12																	76742009		2023	4170	6193	SO:0001587	stop_gained	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76742009C>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.130G>T	12.37:g.76742009C>A	ENSP00000376946:p.Glu44*		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.E44*	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			1	214	-			44					Q96CW2|Q9H5D2	Nonsense_Mutation	SNP	ENST00000393262.3	37	c.130G>T	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	37	6.537760	0.97646	.	.	ENSG00000179941	ENST00000393262	.	.	.	5.33	5.33	0.75918	.	0.250565	0.24463	U	0.038312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.8085	16.5607	0.84565	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000376946:E44X	E	-	1	0	BBS10	75266140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.897000	0.56273	2.771000	0.95319	0.561000	0.74099	GAG		0.647	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		4	41	1	0	2.0095e-06	0.001984	2.47478e-06	4	41				
NAV3	89795	broad.mit.edu	37	12	78400265	78400265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78400265G>T	ENST00000397909.2	+	8	1120	c.947G>T	c.(946-948)gGg>gTg	p.G316V	NAV3_ENST00000536525.2_Missense_Mutation_p.G316V|NAV3_ENST00000228327.6_Missense_Mutation_p.G316V|NAV3_ENST00000266692.7_Missense_Mutation_p.G316V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	316						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G316V(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						AGTACTGCTGGGCAGCCTCCT	0.507										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.(946-948)GGG>GTG		neuron navigator 3							52.0	56.0	55.0					12																	78400265		2063	4204	6267	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400265G>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.947G>T	12.37:g.78400265G>T	ENSP00000381007:p.Gly316Val	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G316V	p.G316V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1120	+			316					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.947G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.793834|2.793834	0.50102|0.50102	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98|.	5.61|5.61	3.71|3.71	0.42584|0.42584	.|.	0.793294|.	0.10062|.	U|.	0.720821|.	T|T	0.54208|0.54208	0.1844|0.1844	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P|.	0.48589|.	0.912;0.661|.	B;B|.	0.43754|.	0.43;0.43|.	T|T	0.46247|0.46247	-0.9205|-0.9205	10|5	0.33940|.	T|.	0.23|.	-6.2026|-6.2026	15.8446|15.8446	0.78876|0.78876	0.0:0.2574:0.7426:0.0|0.0:0.2574:0.7426:0.0	.|.	316;316|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	V|C	316|139	ENSP00000446628:G316V;ENSP00000446132:G316V;ENSP00000381007:G316V;ENSP00000228327:G316V;ENSP00000266692:G316V|.	ENSP00000228327:G316V|.	G|W	+|+	2|3	0|0	NAV3|NAV3	76924396|76924396	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.546000|0.546000	0.35178|0.35178	5.307000|5.307000	0.65762|0.65762	0.673000|0.673000	0.31224|0.31224	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	60	1	0	4.36969e-10	0.001855	6.27247e-10	14	60				
NAV3	89795	broad.mit.edu	37	12	78510671	78510671	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78510671G>T	ENST00000397909.2	+	13	2929	c.2756G>T	c.(2755-2757)aGg>aTg	p.R919M	NAV3_ENST00000536525.2_Missense_Mutation_p.R919M|NAV3_ENST00000228327.6_Missense_Mutation_p.R919M|NAV3_ENST00000266692.7_Missense_Mutation_p.R919M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	919						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R919M(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						GTCCCCTCTAGGAAGAATACT	0.438										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.(2755-2757)AGG>ATG		neuron navigator 3							180.0	171.0	174.0					12																	78510671		1995	4214	6209	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510671G>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.2756G>T	12.37:g.78510671G>T	ENSP00000381007:p.Arg919Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R919M|NAV3_uc010sub.1_Missense_Mutation_p.R419M|NAV3_uc009zsf.2_5'Flank	p.R919M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			13	2929	+			919					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2756G>T		.	.	.	.	.	.	.	.	.	.	G	14.75	2.629743	0.46944	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.43688	1.06;1.09;1.08;0.94	5.71	4.81	0.61882	.	0.161609	0.27866	U	0.017533	T	0.48466	0.1501	L	0.57536	1.79	0.80722	D	1	P;P;P	0.49447	0.845;0.924;0.763	B;P;P	0.49752	0.254;0.514;0.621	T	0.51293	-0.8724	10	0.87932	D	0	-20.3424	12.2187	0.54420	0.1345:0.0:0.8655:0.0	.	919;919;919	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	919	ENSP00000446132:R919M;ENSP00000381007:R919M;ENSP00000228327:R919M;ENSP00000266692:R919M	ENSP00000228327:R919M	R	+	2	0	NAV3	77034802	1.000000	0.71417	0.503000	0.27626	0.056000	0.15407	6.282000	0.72639	2.680000	0.91292	0.557000	0.71058	AGG		0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	106	1	0	2.61681e-11	0.00245	3.92822e-11	12	106				
NAV3	89795	broad.mit.edu	37	12	78513204	78513204	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78513204T>A	ENST00000397909.2	+	15	3401	c.3228T>A	c.(3226-3228)tcT>tcA	p.S1076S	NAV3_ENST00000536525.2_Silent_p.S1076S|NAV3_ENST00000228327.6_Silent_p.S1076S|NAV3_ENST00000266692.7_Silent_p.S1076S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1076	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1076S(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						TAGGGTCATCTGCCATGATCA	0.502										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3226-3228)TCT>TCA		neuron navigator 3							66.0	67.0	67.0					12																	78513204		1953	4162	6115	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513204T>A	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.3228T>A	12.37:g.78513204T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.S1076S|NAV3_uc010sub.1_Silent_p.S576S|NAV3_uc009zsf.2_Silent_p.S84S	p.S1076S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3401	+			1076			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3228T>A		.	.	.	.	.	.	.	.	.	.	T	0.036	-1.304863	0.01353	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.81	-6.15	0.02105	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.47407	D	0.999419	.	.	.	.	.	.	T	0.38286	-0.9668	4	.	.	.	-13.0824	1.8557	0.03178	0.1802:0.3046:0.3036:0.2116	.	.	.	.	S	148	.	.	C	+	1	0	NAV3	77037335	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.755000	0.01814	-1.184000	0.02720	-1.119000	0.02030	TGC		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	74	0	0	0	0.001368	0	12	74				
NAV3	89795	broad.mit.edu	37	12	78542637	78542637	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78542637C>G	ENST00000397909.2	+	22	4896	c.4723C>G	c.(4723-4725)Cgg>Ggg	p.R1575G	NAV3_ENST00000536525.2_Missense_Mutation_p.R1575G|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575G|NAV3_ENST00000266692.7_Missense_Mutation_p.R1398G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1575G(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						CCATAAACTGCGGAGAGAGCT	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.(4723-4725)CGG>GGG		neuron navigator 3							74.0	71.0	72.0					12																	78542637		1841	4094	5935	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78542637C>G	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.4723C>G	12.37:g.78542637C>G	ENSP00000381007:p.Arg1575Gly	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R1575G|NAV3_uc010sub.1_Missense_Mutation_p.R1061G|NAV3_uc009zsf.2_Missense_Mutation_p.R406G	p.R1575G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			22	4896	+			1575			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4723C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.07|16.07	3.019600|3.019600	0.54576|0.54576	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.95377	.|-3.69;-3.69;-3.69;-3.69;-3.69	5.42|5.42	3.54|3.54	0.40534|0.40534	.|.	.|0.000000	.|0.36778	.|U	.|0.002418	D|D	0.96806|0.96806	0.8957|0.8957	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;1.0;0.996	.|D;D;D;D	.|0.91635	.|0.999;0.969;0.998;0.992	D|D	0.96395|0.96395	0.9292|0.9292	5|10	.|0.72032	.|D	.|0.01	-14.3427|-14.3427	13.022|13.022	0.58794|0.58794	0.4239:0.5761:0.0:0.0|0.4239:0.5761:0.0:0.0	.|.	.|1575;1398;1575;1575	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	G|G	469|1575;1575;1575;1398;196;204	.|ENSP00000446132:R1575G;ENSP00000381007:R1575G;ENSP00000228327:R1575G;ENSP00000266692:R1398G;ENSP00000448303:R204G	.|ENSP00000228327:R1575G	A|R	+|+	2|1	0|2	NAV3|NAV3	77066768|77066768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	1.228000|1.228000	0.32588|0.32588	0.626000|0.626000	0.30322|0.30322	-0.188000|-0.188000	0.12872|0.12872	GCG|CGG		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	36	0	0	0	0.000602	0	4	36				
PPFIA2	8499	broad.mit.edu	37	12	81747008	81747008	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:81747008T>A	ENST00000549396.1	-	17	2044	c.1884A>T	c.(1882-1884)agA>agT	p.R628S	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R475S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R628S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R610S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R610S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R529S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R554S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R195S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R628S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R628S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	628					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R628S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAATTGTTTCTCTGTCATCAT	0.433																																							uc001szo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(1882-1884)AGA>AGT		PTPRF interacting protein alpha 2							180.0	171.0	174.0					12																	81747008		1918	4140	6058	SO:0001583	missense	8499							g.chr12:81747008T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1884A>T	12.37:g.81747008T>A	ENSP00000450337:p.Arg628Ser					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.R628S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	2045	-			554					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1884A>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	6.301	0.423666	0.11928	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.44	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.26130	0.795	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.22208	-1.0223	10	0.08599	T	0.76	-17.4219	6.5012	0.22170	0.1378:0.0734:0.0:0.7888	.	628	O75334	LIPA2_HUMAN	S	628;610;195;554;639;610;628;529;628;209	ENSP00000450337:R628S;ENSP00000450298:R610S;ENSP00000438337:R195S;ENSP00000385093:R554S;ENSP00000327416:R610S;ENSP00000449338:R628S;ENSP00000388373:R529S;ENSP00000447868:R628S;ENSP00000448941:R209S	ENSP00000327416:R610S	R	-	3	2	PPFIA2	80271139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.504000	0.35726	0.895000	0.36342	0.477000	0.44152	AGA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			13	58	0	0	0	0.001855	0	13	58				
ALX1	8092	broad.mit.edu	37	12	85677430	85677430	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:85677430C>A	ENST00000316824.3	+	2	462	c.307C>A	c.(307-309)Cga>Aga	p.R103R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	103					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|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)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R103R(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TAACAGTCTCCGAATGTCTCC	0.478																																							uc001tae.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(307-309)CGA>AGA		cartilage paired-class homeoprotein 1							111.0	104.0	106.0					12																	85677430		2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677430C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.307C>A	12.37:g.85677430C>A							p.R103R	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	311	+			103					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.307C>A	CCDS9028.1																																																																																				0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		10	86	1	0	6.40141e-05	0.000978	7.35004e-05	10	86				
PLXNC1	10154	broad.mit.edu	37	12	94618082	94618082	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:94618082C>T	ENST00000258526.4	+	7	2030	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	594					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S594L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTGCTCATCATTAAAAGAG	0.348																																							uc001tdc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1780-1782)TCA>TTA		plexin C1 precursor							141.0	129.0	133.0					12																	94618082		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94618082C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1781C>T	12.37:g.94618082C>T	ENSP00000258526:p.Ser594Leu						p.S594L	NM_005761	NP_005752	O60486	PLXC1_HUMAN			7	2030	+			594			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1781C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626457	0.14257	.	.	ENSG00000136040	ENST00000258526	T	0.06608	3.28	6.02	5.13	0.70059	.	0.488078	0.21295	N	0.076911	T	0.09379	0.0231	M	0.66939	2.045	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.06162	-1.0842	10	0.31617	T	0.26	.	11.2774	0.49174	0.0:0.9167:0.0:0.0833	.	594	O60486	PLXC1_HUMAN	L	594	ENSP00000258526:S594L	ENSP00000258526:S594L	S	+	2	0	PLXNC1	93142213	0.607000	0.26958	0.744000	0.31058	0.026000	0.11368	1.417000	0.34770	1.566000	0.49654	-0.140000	0.14226	TCA		0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			22	146	0	0	0	0.001882	0	22	146				
PLXNC1	10154	broad.mit.edu	37	12	94654449	94654449	+	Missense_Mutation	SNP	C	C	A	rs370132637		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:94654449C>A	ENST00000258526.4	+	20	3532	c.3283C>A	c.(3283-3285)Ctg>Atg	p.L1095M	PLXNC1_ENST00000547057.1_Missense_Mutation_p.L142M|PLXNC1_ENST00000545312.1_5'Flank|PLXNC1_ENST00000551495.1_3'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1095					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.L1095M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACCATTGCACTGCAAACCAA	0.522																																							uc001tdc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3283-3285)CTG>ATG		plexin C1 precursor							99.0	82.0	88.0					12																	94654449		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94654449C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3283C>A	12.37:g.94654449C>A	ENSP00000258526:p.Leu1095Met					PLXNC1_uc010sut.1_Missense_Mutation_p.L142M|PLXNC1_uc009zsv.2_5'Flank	p.L1095M	NM_005761	NP_005752	O60486	PLXC1_HUMAN			20	3532	+			1095			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3283C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850039	0.71603	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.26660	1.72;1.72	6.17	6.17	0.99709	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.058817	0.64402	D	0.000001	T	0.54287	0.1849	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.977;0.996	T	0.58393	-0.7644	10	0.87932	D	0	.	11.9775	0.53100	0.0:0.8675:0.0:0.1325	.	142;1095	B4DHQ7;O60486	.;PLXC1_HUMAN	M	1095;142	ENSP00000258526:L1095M;ENSP00000446720:L142M	ENSP00000258526:L1095M	L	+	1	2	PLXNC1	93178580	0.999000	0.42202	0.974000	0.42286	0.728000	0.41692	4.111000	0.57838	2.941000	0.99782	0.655000	0.94253	CTG		0.522	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			8	61	1	0	2.17888e-05	0.006214	2.56155e-05	8	61				
NDUFA12	55967	broad.mit.edu	37	12	95397411	95397411	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:95397411C>A	ENST00000327772.2	-	1	135	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	NDUFA12_ENST00000547157.1_Missense_Mutation_p.G16C|NDUFA12_ENST00000547986.1_Missense_Mutation_p.G16C	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	16					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G16C(1)		endometrium(1)|large_intestine(2)|lung(3)	6						CCGCCGTGGCCGGTGATCTGC	0.622																																							uc001tdl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GGC>TGC		13kDa differentiation-associated protein	NADH(DB00157)						81.0	89.0	86.0					12																	95397411		2203	4300	6503	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95397411C>A	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.46G>T	12.37:g.95397411C>A	ENSP00000330737:p.Gly16Cys						p.G16C	NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN			1	101	-			16					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.46G>T	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726155	0.48833	.	.	ENSG00000184752	ENST00000547157;ENST00000327772;ENST00000547986	T	0.44482	0.92	5.2	5.2	0.72013	.	0.047102	0.85682	D	0.000000	T	0.60222	0.2252	M	0.65498	2.005	0.58432	D	0.999999	D	0.63880	0.993	P	0.59288	0.855	T	0.63310	-0.6666	10	0.66056	D	0.02	-15.2427	17.8565	0.88765	0.0:1.0:0.0:0.0	.	16	Q9UI09	NDUAC_HUMAN	C	16	ENSP00000330737:G16C	ENSP00000330737:G16C	G	-	1	0	NDUFA12	93921542	0.979000	0.34478	0.959000	0.39883	0.154000	0.21943	5.306000	0.65756	2.588000	0.87417	0.313000	0.20887	GGC		0.622	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		10	166	1	0	4.36969e-10	0.001855	6.27247e-10	10	166				
UHRF1BP1L	23074	broad.mit.edu	37	12	100444090	100444090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:100444090C>T	ENST00000279907.7	-	17	3786	c.3574G>A	c.(3574-3576)Gtt>Att	p.V1192I	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.V842I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1192								p.V1192I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AATACCACAACGGACATCTAT	0.333																																							uc001tgq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3574-3576)GTT>ATT		UHRF1 (ICBP90) binding protein 1-like isoform a							95.0	87.0	90.0					12																	100444090		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100444090C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3574G>A	12.37:g.100444090C>T	ENSP00000279907:p.Val1192Ile					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.V842I	p.V1192I	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			17	3803	-			1192					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3574G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719528	0.48728	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.15372	2.44;2.43	5.33	2.53	0.30540	.	0.114451	0.64402	N	0.000016	T	0.17789	0.0427	L	0.60455	1.87	0.80722	D	1	B	0.21753	0.06	B	0.18561	0.022	T	0.03473	-1.1033	10	0.46703	T	0.11	-6.962	11.4216	0.49985	0.0:0.8219:0.0:0.1781	.	1192	A0JNW5	UH1BL_HUMAN	I	1192;842	ENSP00000279907:V1192I;ENSP00000444824:V842I	ENSP00000279907:V1192I	V	-	1	0	UHRF1BP1L	98968221	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.974000	0.49272	0.240000	0.21263	0.591000	0.81541	GTT		0.333	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		4	31	0	0	0	0.009096	0	4	31				
ANO4	121601	broad.mit.edu	37	12	101336246	101336246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:101336246C>A	ENST00000392977.3	+	5	599	c.389C>A	c.(388-390)cCc>cAc	p.P130H	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.P296H|ANO4_ENST00000392979.3_Missense_Mutation_p.P95H			Q32M45	ANO4_HUMAN	anoctamin 4	130					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P95H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAATCCAACCCCCAGACTGAA	0.368										HNSCC(74;0.22)																													uc010svm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(388-390)CCC>CAC		anoctamin 4							132.0	140.0	137.0					12																	101336246		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101336246C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.389C>A	12.37:g.101336246C>A	ENSP00000376703:p.Pro130His	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.P95H|ANO4_uc001thx.2_Missense_Mutation_p.P130H	p.P130H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			5	961	+			130			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.389C>A		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777599	0.70107	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.65732	-0.17;-0.17;-0.17	5.61	5.61	0.85477	.	0.071157	0.64402	D	0.000019	T	0.60843	0.2300	L	0.46157	1.445	0.80722	D	1	P;P	0.50528	0.899;0.936	B;P	0.47102	0.428;0.537	T	0.61705	-0.7008	10	0.45353	T	0.12	.	12.9057	0.58152	0.0:0.9256:0.0:0.0744	.	130;95	Q32M45;Q32M45-2	ANO4_HUMAN;.	H	296;95;130	ENSP00000443751:P296H;ENSP00000376705:P95H;ENSP00000376703:P130H	ENSP00000376703:P130H	P	+	2	0	ANO4	99860377	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.602000	0.46257	2.644000	0.89710	0.655000	0.94253	CCC		0.368	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		18	213	1	0	3.52763e-06	0.00499	4.28807e-06	18	213				
PAH	5053	broad.mit.edu	37	12	103271254	103271254	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:103271254C>A	ENST00000553106.1	-	4	899	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	PAH_ENST00000307000.2_Missense_Mutation_p.D138Y|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	143			D -> G (in PKU; haplotype 11).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.D143Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGTCAGCATCCAGTTCCGCT	0.517																																							uc001tjq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(427-429)GAT>TAT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						177.0	160.0	166.0					12																	103271254		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103271254C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.427G>T	12.37:g.103271254C>A	ENSP00000448059:p.Asp143Tyr					PAH_uc010swc.1_Missense_Mutation_p.D143Y	p.D143Y	NM_000277	NP_000268	P00439	PH4H_HUMAN			5	899	-			143		D -> G (in PKU; haplotype 11).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.427G>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644399	0.67244	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99801	-6.81;-6.81	5.86	4.97	0.65823	Aromatic amino acid hydroxylase, C-terminal (3);	0.044374	0.85682	D	0.000000	D	0.99851	0.9931	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.962	D	0.96549	0.9406	10	0.87932	D	0	-30.0361	14.717	0.69277	0.0:0.9306:0.0:0.0694	.	143;143	B4DPN2;P00439	.;PH4H_HUMAN	Y	143;138	ENSP00000448059:D143Y;ENSP00000303500:D138Y	ENSP00000303500:D138Y	D	-	1	0	PAH	101795384	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.457000	0.80775	1.469000	0.48083	0.655000	0.94253	GAT		0.517	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			11	109	1	0	3.07112e-06	0.000978	3.73776e-06	11	109				
ALDH1L2	160428	broad.mit.edu	37	12	105467714	105467714	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:105467714G>T	ENST00000258494.9	-	2	258	c.118C>A	c.(118-120)Cac>Aac	p.H40N	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.H40N	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	40	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.H40N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGCGGAGGTGGCTATAGACT	0.478																																							uc001tlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)CAC>AAC		aldehyde dehydrogenase 1 family, member L2							148.0	141.0	143.0					12																	105467714		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105467714G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.118C>A	12.37:g.105467714G>T	ENSP00000258494:p.His40Asn					ALDH1L2_uc009zup.2_RNA	p.H40N	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			2	245	-			40			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.118C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683209	0.29872	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.75704	-0.96;-0.96	5.31	2.27	0.28462	Formyl transferase, N-terminal (3);	0.433398	0.27340	N	0.019814	T	0.50973	0.1647	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29088	-1.0023	10	0.17369	T	0.5	.	8.7896	0.34843	0.0753:0.0:0.5214:0.4033	.	40	Q3SY69	AL1L2_HUMAN	N	40	ENSP00000258494:H40N;ENSP00000389608:H40N	ENSP00000258494:H40N	H	-	1	0	ALDH1L2	103991844	0.084000	0.21492	0.071000	0.20095	0.931000	0.56810	0.827000	0.27421	0.723000	0.32274	-0.136000	0.14681	CAC		0.478	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		23	140	1	0	1.85244e-09	0.00333	2.59474e-09	23	140				
POLR3B	55703	broad.mit.edu	37	12	106763069	106763069	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:106763069G>T	ENST00000228347.4	+	5	466	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	POLR3B_ENST00000539066.1_Missense_Mutation_p.V24F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	82					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.V82F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAATATCTATGTTGGGCTTCC	0.338																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(244-246)GTT>TTT		DNA-directed RNA polymerase III B isoform 1							181.0	188.0	186.0					12																	106763069		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106763069G>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.244G>T	12.37:g.106763069G>T	ENSP00000228347:p.Val82Phe					POLR3B_uc001tlq.2_Missense_Mutation_p.V24F	p.V82F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			5	466	+			82					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.244G>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114176	0.94339	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.66815	-0.23;-0.23	5.6	5.6	0.85130	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.76328	2.33	0.80722	D	1	P	0.43909	0.821	P	0.53861	0.736	T	0.81152	-0.1063	10	0.87932	D	0	-15.7214	19.6107	0.95606	0.0:0.0:1.0:0.0	.	82	Q9NW08	RPC2_HUMAN	F	82;82;24	ENSP00000228347:V82F;ENSP00000445721:V24F	ENSP00000228347:V82F	V	+	1	0	POLR3B	105287199	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.681000	0.98653	2.648000	0.89879	0.655000	0.94253	GTT		0.338	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		19	113	1	0	1.00905e-13	0.008871	1.62372e-13	19	113				
RFX4	5992	broad.mit.edu	37	12	107113822	107113822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:107113822G>T	ENST00000392842.1	+	12	1637	c.1223G>T	c.(1222-1224)tGt>tTt	p.C408F	RFX4_ENST00000229387.5_Missense_Mutation_p.C314F|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.C417F|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	408	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C417F(1)|p.C314F(1)|p.C408F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTGACCGCTGTGTTGTGAAG	0.537																																							uc001tlr.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(1222-1224)TGT>TTT		regulatory factor X4 isoform c							156.0	142.0	147.0					12																	107113822		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107113822G>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1223G>T	12.37:g.107113822G>T	ENSP00000376585:p.Cys408Phe					RFX4_uc001tls.2_Missense_Mutation_p.C417F|RFX4_uc001tlt.2_Missense_Mutation_p.C417F|RFX4_uc001tlv.2_Missense_Mutation_p.C314F	p.C408F	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			12	1289	+			408			Necessary for dimerization.		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1223G>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472373	0.84533	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.39406	1.08;1.08;1.08	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.988;0.98	D;D;D;D	0.83275	0.996;0.992;0.989;0.974	T	0.64495	-0.6394	10	0.52906	T	0.07	-17.0128	19.773	0.96379	0.0:0.0:1.0:0.0	.	314;417;417;408	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	F	408;417;417;314	ENSP00000376585:C408F;ENSP00000350552:C417F;ENSP00000229387:C314F	ENSP00000229387:C314F	C	+	2	0	RFX4	105637952	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.636000	0.83301	2.677000	0.91161	0.655000	0.94253	TGT		0.537	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	86	1	0	0.00198382	0.001984	0.00212876	7	86				
WSCD2	9671	broad.mit.edu	37	12	108589794	108589794	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:108589794C>T	ENST00000332082.4	+	3	1003	c.185C>T	c.(184-186)gCt>gTt	p.A62V	WSCD2_ENST00000549903.1_Missense_Mutation_p.A62V|WSCD2_ENST00000261400.3_Missense_Mutation_p.A62V|WSCD2_ENST00000547525.1_Missense_Mutation_p.A62V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	62						integral component of membrane (GO:0016021)		p.A62V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTGAGGGTGCTGAGCTGTCC	0.627																																							uc001tms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(184-186)GCT>GTT		WSC domain containing 2							128.0	132.0	131.0					12																	108589794		2070	4207	6277	SO:0001583	missense	9671					integral to membrane		g.chr12:108589794C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.185C>T	12.37:g.108589794C>T	ENSP00000331933:p.Ala62Val					WSCD2_uc001tmt.2_Missense_Mutation_p.A62V	p.A62V	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	929	+			62					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.185C>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	7.140	0.581692	0.13749	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.74	4.79	0.61399	.	0.607412	0.17024	N	0.190007	T	0.26991	0.0661	L	0.50333	1.59	0.09310	N	1	B	0.19331	0.035	B	0.19946	0.027	T	0.08806	-1.0704	10	0.20519	T	0.43	-12.2351	10.6327	0.45547	0.0:0.7913:0.1346:0.0741	.	62	Q2TBF2	WSCD2_HUMAN	V	62	ENSP00000448047:A62V;ENSP00000261400:A62V;ENSP00000331933:A62V;ENSP00000447272:A62V	ENSP00000261400:A62V	A	+	2	0	WSCD2	107113924	0.030000	0.19436	0.070000	0.20053	0.003000	0.03518	2.764000	0.47613	2.704000	0.92352	0.655000	0.94253	GCT		0.627	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		37	313	0	0	0	0.004878	0	37	313				
WSCD2	9671	broad.mit.edu	37	12	108641840	108641840	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:108641840A>C	ENST00000332082.4	+	10	2236	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	WSCD2_ENST00000549903.1_Missense_Mutation_p.K493T|WSCD2_ENST00000261400.3_Missense_Mutation_p.K493T|WSCD2_ENST00000547525.1_Missense_Mutation_p.K473T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	473						integral component of membrane (GO:0016021)		p.K473T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAGTTTGGCAAGAAGGTGCTG	0.602																																							uc001tms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1417-1419)AAG>ACG		WSC domain containing 2							71.0	77.0	75.0					12																	108641840		2090	4233	6323	SO:0001583	missense	9671					integral to membrane		g.chr12:108641840A>C		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1418A>C	12.37:g.108641840A>C	ENSP00000331933:p.Lys473Thr					WSCD2_uc001tmt.2_Missense_Mutation_p.K473T|WSCD2_uc001tmu.2_Missense_Mutation_p.K241T	p.K473T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			9	2162	+			473					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1418A>C	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163401	0.57476	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.35421	1.31;4.62;1.31;4.62	4.46	2.06	0.26882	.	0.053432	0.64402	D	0.000001	T	0.44180	0.1281	M	0.74647	2.275	0.50171	D	0.99985	P;D	0.56035	0.796;0.974	P;P	0.50352	0.517;0.638	T	0.36138	-0.9760	10	0.66056	D	0.02	-23.4976	8.0637	0.30648	0.743:0.0:0.257:0.0	.	493;473	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	T	473;493;473;493	ENSP00000448047:K473T;ENSP00000261400:K493T;ENSP00000331933:K473T;ENSP00000447272:K493T	ENSP00000261400:K493T	K	+	2	0	WSCD2	107165970	1.000000	0.71417	0.990000	0.47175	0.837000	0.47467	2.360000	0.44151	0.133000	0.18654	0.533000	0.62120	AAG		0.602	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		18	91	0	0	0	0.006122	0	18	91				
PPTC7	160760	broad.mit.edu	37	12	110976020	110976020	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:110976020T>C	ENST00000354300.3	-	5	1073	c.785A>G	c.(784-786)gAg>gGg	p.E262G		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	262	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E262G(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						ATAGGCCAGCTCATGAGCTTG	0.393																																							uc001trh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(784-786)GAG>GGG		T-cell activation protein phosphatase 2C							135.0	111.0	119.0					12																	110976020		2203	4300	6503	SO:0001583	missense	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:110976020T>C	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.785A>G	12.37:g.110976020T>C	ENSP00000346255:p.Glu262Gly						p.E262G	NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN			5	1013	-			262			PP2C-like.		B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	ENST00000354300.3	37	c.785A>G	CCDS9149.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.167362	0.38315	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.148517	0.64402	D	0.000016	T	0.54822	0.1882	L	0.38953	1.18	0.51767	D	0.999934	B	0.20164	0.042	B	0.25759	0.063	T	0.49707	-0.8911	9	0.30078	T	0.28	-21.4126	15.9527	0.79855	0.0:0.0:0.0:1.0	.	262	Q8NI37	PPTC7_HUMAN	G	262	.	ENSP00000346255:E262G	E	-	2	0	PPTC7	109460403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.045000	0.64220	2.173000	0.68751	0.533000	0.62120	GAG		0.393	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		12	57	0	0	0	0.001368	0	12	57				
OAS3	4940	broad.mit.edu	37	12	113384680	113384680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:113384680G>T	ENST00000228928.7	+	4	948	c.769G>T	c.(769-771)Ggc>Tgc	p.G257C	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	257	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.G257C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AACTGTCCTGGGCCTGATCCA	0.572																																							uc001tug.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(769-771)GGC>TGC		2'-5'oligoadenylate synthetase 3							82.0	86.0	85.0					12																	113384680		2077	4224	6301	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113384680G>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.769G>T	12.37:g.113384680G>T	ENSP00000228928:p.Gly257Cys						p.G257C	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			4	856	+			257			OAS domain 1.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.769G>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788583	0.31685	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.23	2.38	0.29361	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.40932	0.1137	L	0.45137	1.4	0.23076	N	0.998337	P	0.47762	0.9	P	0.49361	0.608	T	0.21586	-1.0241	9	0.72032	D	0.01	.	6.0175	0.19611	0.106:0.1921:0.7019:0.0	.	257	Q9Y6K5	OAS3_HUMAN	C	257	ENSP00000228928:G257C	ENSP00000228928:G257C	G	+	1	0	OAS3	111869063	0.727000	0.28069	0.331000	0.25455	0.366000	0.29705	0.798000	0.27014	0.522000	0.28464	-0.818000	0.03119	GGC		0.572	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			8	49	1	0	2.74318e-10	0.006214	3.99599e-10	8	49				
PLBD2	196463	broad.mit.edu	37	12	113822701	113822701	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:113822701G>T	ENST00000280800.3	+	8	1195	c.1164G>T	c.(1162-1164)ccG>ccT	p.P388P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	388					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.P388P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGTTCATCCCGGGTGGGCCCA	0.667																																							uc001tve.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1162-1164)CCG>CCT		phospholipase B domain containing 2 isoform 1							31.0	29.0	29.0					12																	113822701		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113822701G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1164G>T	12.37:g.113822701G>T						PLBD2_uc001tvf.2_Intron	p.P388P	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			8	1199	+			388					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1164G>T	CCDS9168.1																																																																																				0.667	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		8	57	1	0	0.00448238	0.004482	0.00475543	8	57				
MED13L	23389	broad.mit.edu	37	12	116428865	116428865	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:116428865C>A	ENST00000281928.3	-	17	4100	c.3894G>T	c.(3892-3894)ctG>ctT	p.L1298L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1298						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L1298L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CACTTCTCACCAGAGCTTCGT	0.458																																							uc001tvw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3892-3894)CTG>CTT		mediator complex subunit 13-like							99.0	94.0	96.0					12																	116428865		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116428865C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3894G>T	12.37:g.116428865C>A							p.L1298L	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3949	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1298					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.3894G>T	CCDS9177.1																																																																																				0.458	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			19	90	1	0	1.10513e-12	0.002299	1.73992e-12	19	90				
FBXO21	23014	broad.mit.edu	37	12	117593705	117593705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:117593705C>A	ENST00000330622.5	-	11	1586	c.1587G>T	c.(1585-1587)atG>atT	p.M529I	FBXO21_ENST00000427718.2_Missense_Mutation_p.M522I			O94952	FBX21_HUMAN	F-box protein 21	529					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.M529I(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACTCGTGTCCCATCATGCAGG	0.587											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(168;452 2038 13535 17701 43680)	GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1585-1587)ATG>ATT		F-box only protein 21 isoform 1							116.0	88.0	97.0					12																	117593705		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117593705C>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1587G>T	12.37:g.117593705C>A	ENSP00000328187:p.Met529Ile		OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1482	FBXO21_uc001twj.2_Missense_Mutation_p.M522I|FBXO21_uc009zwq.2_Missense_Mutation_p.M462I|FBXO21_uc001twl.1_Missense_Mutation_p.M142I	p.M529I	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	11	1626	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		529					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1587G>T	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.569874|5.569874	0.96540|0.96540	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.46063	.|0.88;0.88	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Hemimethylated DNA-binding domain (2);F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.999;0.81;0.969;0.991	.|D;B;D;P	.|0.76575	.|0.988;0.421;0.968;0.801	T|T	0.57740|0.57740	-0.7759|-0.7759	5|10	.|0.44086	.|T	.|0.13	-15.05|-15.05	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|378;272;529;522	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	W|I	406|522;438;378;529;181	.|ENSP00000414468:M522I;ENSP00000328187:M529I	.|ENSP00000257563:M438I	G|M	-|-	1|3	0|0	FBXO21|FBXO21	116078088|116078088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.587	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		6	55	1	0	8.12818e-05	0.001984	9.2732e-05	6	55				
CIT	11113	broad.mit.edu	37	12	120146113	120146113	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:120146113C>A	ENST00000261833.7	-	39	5008	c.4956G>T	c.(4954-4956)cgG>cgT	p.R1652R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.R1694R	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1652	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R1694R(1)|p.R1680R(1)|p.R1652R(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GACACAGTGCCCGCTCTTCTC	0.507																																							uc001txi.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(4954-4956)CGG>CGT		citron							101.0	89.0	93.0					12																	120146113		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120146113C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4956G>T	12.37:g.120146113C>A						CIT_uc001txh.1_Silent_p.R1171R|CIT_uc001txj.1_Silent_p.R1694R	p.R1652R	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	39	5009	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1652			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4956G>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	2.208	-0.381425	0.05000	.	.	ENSG00000122966	ENST00000392520	.	.	.	4.75	3.85	0.44370	.	.	.	.	.	T	0.67850	0.2937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66392	-0.5935	4	.	.	.	.	13.3546	0.60621	0.0:0.9229:0.0:0.0771	.	.	.	.	V	1265	.	.	G	-	2	0	CIT	118630496	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	0.746000	0.26275	1.116000	0.41820	0.561000	0.74099	GGG		0.507	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		14	62	1	0	1.5842e-08	0.001855	2.15163e-08	14	62				
CIT	11113	broad.mit.edu	37	12	120221783	120221783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:120221783C>A	ENST00000261833.7	-	12	1526	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Nonsense_Mutation_p.E492*	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	492					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E492*(2)|p.E493*(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTCAGCTCCACCTCCTTC	0.522																																							uc001txi.1		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(1474-1476)GAG>TAG		citron							232.0	206.0	215.0					12																	120221783		2203	4300	6503	SO:0001587	stop_gained	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120221783C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1474G>T	12.37:g.120221783C>A	ENSP00000261833:p.Glu492*					CIT_uc001txh.1_Nonsense_Mutation_p.E26*|CIT_uc001txj.1_Nonsense_Mutation_p.E492*	p.E492*	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	12	1527	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	492			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Nonsense_Mutation	SNP	ENST00000261833.7	37	c.1474G>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.208144|5.208144	0.95033|0.95033	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80325	.|0.4602	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77848	.|-0.2435	.|3	0.31617|.	T|.	0.26|.	.|.	20.2405|20.2405	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	492|119	.|.	ENSP00000261833:E492X|.	E|W	-|-	1|3	0|0	CIT|CIT	118706166|118706166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.797000|2.797000	0.96272|0.96272	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.522	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		43	340	1	0	2.47872e-24	0.002522	4.60636e-24	43	340				
RNF10	9921	broad.mit.edu	37	12	121004691	121004691	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:121004691G>C	ENST00000325954.4	+	13	2410	c.1949G>C	c.(1948-1950)tGc>tCc	p.C650S	RNF10_ENST00000413266.2_Missense_Mutation_p.C655S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	650					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C650S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTATACCTGCTCCTCTGAT	0.507																																							uc001typ.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1948-1950)TGC>TCC		ring finger protein 10							99.0	94.0	95.0					12																	121004691		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121004691G>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1949G>C	12.37:g.121004691G>C	ENSP00000322242:p.Cys650Ser					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.C561S	p.C650S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			13	2432	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		650					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1949G>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310946	0.60414	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	D;D	0.88586	-2.4;-2.4	5.87	5.87	0.94306	.	0.319052	0.39985	N	0.001217	D	0.86087	0.5849	L	0.44542	1.39	0.44736	D	0.997737	B;B	0.18166	0.026;0.012	B;B	0.21360	0.034;0.01	T	0.80207	-0.1478	10	0.18710	T	0.47	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	655;650	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	S	650;650;655;98;194	ENSP00000322242:C650S;ENSP00000415682:C655S	ENSP00000322242:C650S	C	+	2	0	RNF10	119489074	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.368000	0.52357	2.774000	0.95407	0.643000	0.83706	TGC		0.507	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			32	177	0	0	0	0.009535	0	32	177				
RHOF	54509	broad.mit.edu	37	12	122217461	122217461	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:122217461G>C	ENST00000267205.2	-	5	1207	c.579C>G	c.(577-579)ctC>ctG	p.L193L	RHOF_ENST00000537265.1_Silent_p.L93L|TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	193					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L193L(1)		large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAGAGCGCTGAGAGCCACCT	0.637																																							uc001ubb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(577-579)CTC>CTG		ras homolog gene family, member F precursor							57.0	58.0	58.0					12																	122217461		2203	4300	6503	SO:0001819	synonymous_variant	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122217461G>C	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.579C>G	12.37:g.122217461G>C						TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	p.L193L	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	5	634	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		193					Q8WVB1|Q9NXH6	Silent	SNP	ENST00000267205.2	37	c.579C>G	CCDS9222.1																																																																																				0.637	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			17	96	0	0	0	0.006122	0	17	96				
KNTC1	9735	broad.mit.edu	37	12	123105090	123105090	+	Missense_Mutation	SNP	C	C	T	rs377336279		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:123105090C>T	ENST00000333479.7	+	60	6391	c.6214C>T	c.(6214-6216)Ccg>Tcg	p.P2072S	KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P997S|KNTC1_ENST00000534995.1_5'UTR|HCAR1_ENST00000356987.2_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2072					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.P2072S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTTAGAACTTCCGGCTTTTGC	0.463																																							uc001ucv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(6214-6216)CCG>TCG		Rough Deal homolog, centromere/kinetochore		C	SER/PRO	0,3966		0,0,1983	87.0	83.0	84.0		6214	5.6	1.0	12		84	1,8363		0,1,4181	no	missense	KNTC1	NM_014708.4	74	0,1,6164	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	2072/2210	123105090	1,12329	1983	4182	6165	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123105090C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6214C>T	12.37:g.123105090C>T	ENSP00000328236:p.Pro2072Ser					KNTC1_uc010taf.1_Missense_Mutation_p.P997S|GPR81_uc001ucw.1_RNA	p.P2072S	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	60	6377	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		2072					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.6214C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890866	0.72524	0.0	1.2E-4	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.34667	1.35;1.35	5.62	5.62	0.85841	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.048083	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	T	0.58255	-0.7668	10	0.46703	T	0.11	-18.0077	19.2653	0.93983	0.0:1.0:0.0:0.0	.	997;2072	E7ES84;P50748	.;KNTC1_HUMAN	S	997;2072	ENSP00000397992:P997S;ENSP00000328236:P2072S	ENSP00000328236:P2072S	P	+	1	0	KNTC1	121671043	1.000000	0.71417	0.985000	0.45067	0.217000	0.24651	4.695000	0.61767	2.665000	0.90641	0.650000	0.86243	CCG		0.463	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			6	44	0	0	0	0.001168	0	6	44				
SBNO1	55206	broad.mit.edu	37	12	123815810	123815810	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:123815810A>C	ENST00000602398.1	-	8	1149	c.1022T>G	c.(1021-1023)tTg>tGg	p.L341W	SBNO1_ENST00000267176.4_Missense_Mutation_p.L340W|SBNO1_ENST00000420886.2_Missense_Mutation_p.L341W|SBNO1_ENST00000602750.1_Missense_Mutation_p.L340W			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	341					regulation of transcription, DNA-templated (GO:0006355)			p.L340W(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTTCTACTCAACAAATAATT	0.463																																							uc010tap.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1021-1023)TTG>TGG		sno, strawberry notch homolog 1							139.0	122.0	128.0					12																	123815810		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123815810A>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1022T>G	12.37:g.123815810A>C	ENSP00000473665:p.Leu341Trp					SBNO1_uc010tao.1_Missense_Mutation_p.L340W|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L341W|SBNO1_uc001ueu.2_Missense_Mutation_p.L340W|SBNO1_uc001uev.2_Missense_Mutation_p.L339W|SBNO1_uc009zxy.1_Missense_Mutation_p.L306W	p.L341W	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	7	1022	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		341					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1022T>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768506	0.90020	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93859	-3.3;-3.3	5.83	5.83	0.93111	Helicase/UvrB domain (1);	0.000000	0.64402	D	0.000003	D	0.95878	0.8658	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.87578	0.982;0.97;0.998	D	0.96247	0.9180	10	0.72032	D	0.01	-12.4521	16.2025	0.82095	1.0:0.0:0.0:0.0	.	341;340;339	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	W	341;340;340	ENSP00000387361:L341W;ENSP00000267176:L340W	ENSP00000267176:L340W	L	-	2	0	SBNO1	122381763	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	7.438000	0.80431	2.231000	0.72958	0.459000	0.35465	TTG		0.463	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		10	155	0	0	0	0.000978	0	10	155				
ZNF664	144348	broad.mit.edu	37	12	124497156	124497156	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:124497156C>T	ENST00000539644.1	+	6	2295	c.465C>T	c.(463-465)acC>acT	p.T155T	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Silent_p.T155T|ZNF664_ENST00000337815.4_Silent_p.T155T|ZNF664_ENST00000538932.2_Silent_p.T155T			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	155					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.T155T(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCAGGCACACCTCCAGCCTCT	0.498																																							uc001ufz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)ACC>ACT		zinc finger protein 664							78.0	84.0	82.0					12																	124497156		2203	4300	6503	SO:0001819	synonymous_variant	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497156C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.465C>T	12.37:g.124497156C>T						ZNF664_uc001uga.2_Silent_p.T155T|ZNF664_uc001ugb.2_Silent_p.T155T	p.T155T	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2295	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		155			C2H2-type 6.		B3KP97|Q15914|Q3ZCQ7	Silent	SNP	ENST00000539644.1	37	c.465C>T	CCDS9257.1																																																																																				0.498	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		26	168	0	0	0	0.005443	0	26	168				
TMEM132B	114795	broad.mit.edu	37	12	125834246	125834246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:125834246C>A	ENST00000299308.3	+	2	309	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	101						integral component of membrane (GO:0016021)		p.L101I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCCCAGGAGCTCCTGTTGAC	0.498																																							uc001uhe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(301-303)CTC>ATC		transmembrane protein 132B							112.0	110.0	110.0					12																	125834246		1887	4112	5999	SO:0001583	missense	114795					integral to membrane		g.chr12:125834246C>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.301C>A	12.37:g.125834246C>A	ENSP00000299308:p.Leu101Ile						p.L101I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	309	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		101			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.301C>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900681	0.33535	.	.	ENSG00000139364	ENST00000299308	T	0.15834	2.39	5.41	1.45	0.22620	.	.	.	.	.	T	0.19604	0.0471	L	0.51422	1.61	0.80722	D	1	P	0.44521	0.837	P	0.46320	0.512	T	0.01925	-1.1246	9	0.56958	D	0.05	.	9.0121	0.36148	0.0:0.6375:0.0:0.3625	.	101	Q14DG7	T132B_HUMAN	I	101	ENSP00000299308:L101I	ENSP00000299308:L101I	L	+	1	0	TMEM132B	124400199	1.000000	0.71417	0.947000	0.38551	0.389000	0.30415	2.010000	0.40913	0.243000	0.21327	0.591000	0.81541	CTC		0.498	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		31	168	1	0	2.75727e-19	0.004878	4.92853e-19	31	168				
TMEM132B	114795	broad.mit.edu	37	12	126139132	126139132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:126139132G>T	ENST00000299308.3	+	9	3121	c.3113G>T	c.(3112-3114)gGc>gTc	p.G1038V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G550V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1038						integral component of membrane (GO:0016021)		p.G1038V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGACGGCGGCCCATACACC	0.468																																							uc001uhe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(3112-3114)GGC>GTC		transmembrane protein 132B							66.0	63.0	64.0					12																	126139132		1877	4105	5982	SO:0001583	missense	114795					integral to membrane		g.chr12:126139132G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3113G>T	12.37:g.126139132G>T	ENSP00000299308:p.Gly1038Val					TMEM132B_uc001uhf.1_Missense_Mutation_p.G550V	p.G1038V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3121	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1038			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.3113G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216268	0.39201	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.08896	3.83;3.04	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.17789	0.0427	N	0.21194	0.64	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.12116	-1.0560	10	0.21540	T	0.41	.	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1038	Q14DG7	T132B_HUMAN	V	1038;550	ENSP00000299308:G1038V;ENSP00000440436:G550V	ENSP00000299308:G1038V	G	+	2	0	TMEM132B	124705085	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.214000	0.58527	2.741000	0.93983	0.655000	0.94253	GGC		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		13	95	1	0	6.72482e-11	0.003163	9.9582e-11	13	95				
TUBA3C	7278	broad.mit.edu	37	13	19753702	19753702	+	Splice_Site	SNP	C	C	A	rs371896594		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:19753702C>A	ENST00000400113.3	-	2	109	c.5G>T	c.(4-6)cGt>cTt	p.R2L	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	2					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R2L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GATACACTCACGCTGTGAACC	0.433																																							uc009zzj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(4-6)CGT>CTT		tubulin, alpha 3c							105.0	93.0	97.0					13																	19753702		2203	4300	6503	SO:0001630	splice_region_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753702C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.4-1G>T	13.37:g.19753702C>A							p.R2L	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	54	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	2					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.5G>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.271936	0.23221	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70516	-0.49	1.37	1.37	0.22104	.	0.000000	0.49305	U	0.000159	T	0.74329	0.3702	.	.	.	0.42929	D	0.994316	.	.	.	.	.	.	T	0.76085	-0.3088	7	0.87932	D	0	.	8.7074	0.34363	0.0:1.0:0.0:0.0	.	.	.	.	L	2	ENSP00000382982:R2L	ENSP00000354037:R2L	R	-	2	0	TUBA3C	18651702	1.000000	0.71417	0.554000	0.28268	0.293000	0.27360	6.436000	0.73417	1.070000	0.40811	0.194000	0.17425	CGT		0.433	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	Missense_Mutation	16	92	1	0	4.14922e-12	0.004007	6.38441e-12	16	92				
TPTE2	93492	broad.mit.edu	37	13	20039416	20039416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:20039416G>T	ENST00000400230.2	-	9	699	c.655C>A	c.(655-657)Cta>Ata	p.L219I	TPTE2_ENST00000457266.2_Missense_Mutation_p.L108I|TPTE2_ENST00000382977.4_Missense_Mutation_p.L219I|TPTE2_ENST00000382978.1_Missense_Mutation_p.L179I|TPTE2_ENST00000382975.4_Missense_Mutation_p.L179I|TPTE2_ENST00000390680.2_Missense_Mutation_p.L142I|TPTE2_ENST00000400103.2_Missense_Mutation_p.L108I|TPTE2_ENST00000255310.6_Missense_Mutation_p.L142I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	219	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L219I(1)|p.L142I(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGAGGTCTAGGTCAAATCCA	0.313																																							uc001umd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(655-657)CTA>ATA		TPTE and PTEN homologous inositol lipid							198.0	181.0	187.0					13																	20039416		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039416G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.655C>A	13.37:g.20039416G>T	ENSP00000383089:p.Leu219Ile					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.L108I|TPTE2_uc001ume.2_Missense_Mutation_p.L142I|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.L219I	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	10	866	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	219			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.655C>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	10.63	1.403356	0.25291	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	3.2	1.19	0.21007	Phosphatase tensin type (1);	0.000000	0.64402	D	0.000001	D	0.98943	0.9641	M	0.92122	3.275	0.42742	D	0.993744	D;D;D	0.76494	0.998;0.981;0.999	D;D;D	0.91635	0.999;0.967;0.999	D	0.97626	1.0139	9	.	.	.	-10.6316	3.8181	0.08824	0.1756:0.2496:0.5748:0.0	.	108;142;219	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	I	179;108;219;142;142;219;179;108;219;88	ENSP00000372438:L179I;ENSP00000382974:L108I;ENSP00000383089:L219I;ENSP00000255310:L142I;ENSP00000375098:L142I;ENSP00000372437:L219I;ENSP00000372435:L179I;ENSP00000442218:L108I	.	L	-	1	2	TPTE2	18937416	1.000000	0.71417	0.816000	0.32577	0.015000	0.08874	4.112000	0.57845	0.082000	0.17018	-0.499000	0.04595	CTA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		21	213	1	0	2.37509e-13	0.010504	3.79398e-13	21	213				
SACS	26278	broad.mit.edu	37	13	23915735	23915735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:23915735C>A	ENST00000382292.3	-	9	2553	c.2280G>T	c.(2278-2280)ttG>ttT	p.L760F	SACS_ENST00000402364.1_Missense_Mutation_p.L10F|SACS_ENST00000382298.3_Missense_Mutation_p.L760F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	760					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L760F(1)|p.L613F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTGAACAATCAATTCTCTGC	0.368																																							uc001uon.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2278-2280)TTG>TTT		sacsin							51.0	52.0	51.0					13																	23915735		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915735C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2280G>T	13.37:g.23915735C>A	ENSP00000371729:p.Leu760Phe					SACS_uc001uoo.2_Missense_Mutation_p.L613F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Missense_Mutation_p.L613F	p.L760F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	2869	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	760					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2280G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.07|12.07	1.829038|1.829038	0.32329|0.32329	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000402364;ENST00000382298	.|T;D;T	.|0.87650	.|2.05;-2.28;2.05	6.05|6.05	5.2|5.2	0.72013|0.72013	.|.	.|0.131843	.|0.53938	.|D	.|0.000059	T|T	0.75095|0.75095	0.3803|0.3803	N|N	0.20685|0.20685	0.6|0.6	0.35337|0.35337	D|D	0.786177|0.786177	.|B;B	.|0.15141	.|0.012;0.0	.|B;B	.|0.13407	.|0.009;0.001	T|T	0.70092|0.70092	-0.4967|-0.4967	5|10	.|0.09084	.|T	.|0.74	.|.	11.1032|11.1032	0.48188|0.48188	0.0:0.8011:0.1301:0.0688|0.0:0.8011:0.1301:0.0688	.|.	.|659;760	.|B2REB1;Q9NZJ4	.|.;SACS_HUMAN	Y|F	660|760;10;760	.|ENSP00000371729:L760F;ENSP00000385844:L10F;ENSP00000371735:L760F	.|ENSP00000371729:L760F	D|L	-|-	1|3	0|2	SACS|SACS	22813735|22813735	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.943000|0.943000	0.58893|0.58893	0.818000|0.818000	0.27295|0.27295	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAT|TTG		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		13	124	1	0	1.5842e-08	0.001855	2.15163e-08	13	124				
MIPEP	4285	broad.mit.edu	37	13	24380111	24380112	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:24380111_24380112CC>AA	ENST00000382172.3	-	16	1923_1924	c.1825_1826GG>TT	c.(1825-1827)GGc>TTc	p.G609F		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	609					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G609F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATATGGTAGGCCATAGAATTTC	0.421																																							uc001uox.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1825-1827)GGC>TTC		mitochondrial intermediate peptidase precursor																																				SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24380111_24380112CC>AA		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1825_1826delinsAA	13.37:g.24380111_24380112delinsAA	ENSP00000371607:p.Gly609Phe						p.G609F	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	16	1925_1926	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	609					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	DNP	ENST00000382172.3	37	c.1825_1826GG>TT	CCDS9303.1																																																																																				0.421	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			35	177	0	0	0	0.004672	0	35	177				
ATP12A	479	broad.mit.edu	37	13	25266991	25266991	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:25266991G>T	ENST00000381946.3	+	10	1501	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L	ATP12A_ENST00000218548.6_Missense_Mutation_p.R451L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	445					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R445L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTGTGTAACCGAGCAGAGTTC	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)	Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1333-1335)CGA>CTA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						196.0	187.0	190.0					13																	25266991		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266991G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1334G>T	13.37:g.25266991G>T	ENSP00000371372:p.Arg445Leu					ATP12A_uc010aaa.2_Missense_Mutation_p.R451L	p.R445L	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1521	+		Lung SC(185;0.0225)|Breast(139;0.077)	445			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1334G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787429	0.90367	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96011	-3.88;-3.88	5.65	5.65	0.86999	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000008	D	0.96340	0.8806	L	0.45352	1.415	0.80722	D	1	D;D	0.71674	0.998;0.957	D;P	0.65323	0.934;0.552	D	0.96778	0.9573	10	0.87932	D	0	.	17.2166	0.86946	0.0:0.0:1.0:0.0	.	451;445	P54707-2;P54707	.;AT12A_HUMAN	L	451;445	ENSP00000218548:R451L;ENSP00000371372:R445L	ENSP00000218548:R451L	R	+	2	0	ATP12A	24164991	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.378000	0.79679	2.667000	0.90743	0.655000	0.94253	CGA		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		60	329	1	0	4.09106e-26	0.00361	7.72669e-26	60	329				
RASL11A	387496	broad.mit.edu	37	13	27847369	27847369	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:27847369A>T	ENST00000241463.4	+	4	1085	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A									p.Q156L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CATGCCCGGCAGGTGCAGACA	0.527																																							uc001urd.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(466-468)CAG>CTG		RAS-like, family 11, member A							62.0	54.0	57.0					13																	27847369		2203	4300	6503	SO:0001583	missense	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847369A>T	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.467A>T	13.37:g.27847369A>T	ENSP00000241463:p.Gln156Leu						p.Q156L	NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1085	+		Lung SC(185;0.0161)	156			Small GTPase-like.			Missense_Mutation	SNP	ENST00000241463.4	37	c.467A>T	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794770	0.90453	.	.	ENSG00000122035	ENST00000241463	T	0.80214	-1.35	5.67	5.67	0.87782	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	M	0.72576	2.205	0.58432	D	0.999999	D	0.57899	0.981	D	0.64321	0.924	D	0.88854	0.3321	10	0.56958	D	0.05	.	15.9087	0.79450	1.0:0.0:0.0:0.0	.	156	Q6T310	RSLBA_HUMAN	L	156	ENSP00000241463:Q156L	ENSP00000241463:Q156L	Q	+	2	0	RASL11A	26745369	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.828000	0.69307	2.165000	0.68154	0.533000	0.62120	CAG		0.527	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		13	32	0	0	0	0.00499	0	13	32				
FLT1	2321	broad.mit.edu	37	13	28959104	28959104	+	Silent	SNP	G	G	T	rs146170931		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:28959104G>T	ENST00000282397.4	-	14	2285	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	FLT1_ENST00000541932.1_Silent_p.T678T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	678	Ig-like C2-type 7.				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.T678T(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)	AGTCTAAAGTGGTGGAACTGC	0.453																																							uc001usb.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2032-2034)ACC>ACA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						218.0	195.0	203.0					13																	28959104		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:28959104G>T	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.2034C>A	13.37:g.28959104G>T						FLT1_uc010aar.1_Silent_p.T678T	p.T678T	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)	14	2319	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	678			Ig-like C2-type 7.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2034C>A	CCDS9330.1																																																																																				0.453	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			41	131	1	0	7.53189e-24	0.007835	1.39312e-23	41	131				
SLC7A1	6541	broad.mit.edu	37	13	30110070	30110070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:30110070C>A	ENST00000380752.5	-	3	642	c.256G>T	c.(256-258)Gag>Tag	p.E86*		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	86					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.E86*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCACCAAACTCGCCATAGCAC	0.602																																							uc001uso.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(256-258)GAG>TAG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						66.0	55.0	59.0					13																	30110070		2203	4300	6503	SO:0001587	stop_gained	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110070C>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.256G>T	13.37:g.30110070C>A	ENSP00000370128:p.Glu86*						p.E86*	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	3	643	-		Lung SC(185;0.0257)|Breast(139;0.238)	86			Cytoplasmic (Potential).		Q5JR50	Nonsense_Mutation	SNP	ENST00000380752.5	37	c.256G>T	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239387	0.95240	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0366	0.86478	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000370128:E86X	E	-	1	0	SLC7A1	29008070	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.510000	0.81708	2.490000	0.84030	0.655000	0.94253	GAG		0.602	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		12	45	1	0	5.35267e-07	0.007413	6.77867e-07	12	45				
B3GALTL	145173	broad.mit.edu	37	13	31903674	31903674	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:31903674C>T	ENST00000343307.4	+	15	1515	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	456					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.H456Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTACCTTTCTCATCAAGTTCC	0.463																																							uc010aaz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1366-1368)CAT>TAT		beta 1,3-galactosyltransferase-like							132.0	124.0	127.0					13																	31903674		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31903674C>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1366C>T	13.37:g.31903674C>T	ENSP00000343002:p.His456Tyr					B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.H61Y	p.H456Y	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	15	1476	+		Lung SC(185;0.0257)	456			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.1366C>T	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608025	0.66558	.	.	ENSG00000187676	ENST00000343307	T	0.63744	-0.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.71570	-0.4553	10	0.33141	T	0.24	-24.612	19.8276	0.96624	0.0:1.0:0.0:0.0	.	456	Q6Y288	B3GLT_HUMAN	Y	456	ENSP00000343002:H456Y	ENSP00000343002:H456Y	H	+	1	0	B3GALTL	30801674	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	5.625000	0.67770	2.697000	0.92050	0.585000	0.79938	CAT		0.463	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		36	91	0	0	0	0.00623	0	36	91				
RXFP2	122042	broad.mit.edu	37	13	32360555	32360555	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32360555C>T	ENST00000298386.2	+	12	1036	c.965C>T	c.(964-966)cCt>cTt	p.P322L	RXFP2_ENST00000380314.1_Missense_Mutation_p.P298L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	322					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.P322L(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAACTATCACCTCACCTTTTT	0.348																																							uc001utt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(964-966)CCT>CTT		relaxin/insulin-like family peptide receptor 2							110.0	101.0	104.0					13																	32360555		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32360555C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.965C>T	13.37:g.32360555C>T	ENSP00000298386:p.Pro322Leu					RXFP2_uc010aba.2_Missense_Mutation_p.P281L	p.P322L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	12	1036	+		Lung SC(185;0.0262)	322			Extracellular (Potential).|LRR 8.		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.965C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802169	0.31869	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.60424	0.19;0.19	5.72	1.47	0.22746	.	0.915413	0.09580	N	0.783037	T	0.49779	0.1577	L	0.58510	1.815	0.09310	N	1	B;B	0.22604	0.033;0.072	B;B	0.28553	0.068;0.091	T	0.49854	-0.8895	10	0.51188	T	0.08	.	1.9028	0.03271	0.2605:0.4214:0.0994:0.2188	.	298;322	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	L	298;322	ENSP00000369670:P298L;ENSP00000298386:P322L	ENSP00000298386:P322L	P	+	2	0	RXFP2	31258555	0.000000	0.05858	0.772000	0.31596	0.822000	0.46500	-1.017000	0.03630	0.313000	0.23062	0.655000	0.94253	CCT		0.348	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		18	75	0	0	0	0.00278	0	18	75				
FRY	10129	broad.mit.edu	37	13	32783213	32783213	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32783213G>T	ENST00000380250.3	+	32	4738	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1414						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L1414L(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)		CCACGTCACTGGTCCTGAACA	0.532																																							uc001utx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(4240-4242)CTG>CTT		furry homolog							63.0	66.0	65.0					13																	32783213		1963	4154	6117	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783213G>T	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.4242G>T	13.37:g.32783213G>T						FRY_uc010tdw.1_RNA	p.L1414L	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)	32	4738	+		Lung SC(185;0.0271)	1414					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.4242G>T	CCDS41875.1																																																																																				0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		15	126	1	0	1.45105e-14	0.006122	2.38171e-14	15	126				
FRY	10129	broad.mit.edu	37	13	32805373	32805373	+	Missense_Mutation	SNP	G	G	T	rs376464877		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32805373G>T	ENST00000380250.3	+	41	5959	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K1821N(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)		AAAATTCAAAGAGTGCTGAAC	0.353																																							uc001utx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(5461-5463)AAG>AAT		furry homolog							168.0	150.0	156.0					13																	32805373		1878	4099	5977	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32805373G>T	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.5463G>T	13.37:g.32805373G>T	ENSP00000369600:p.Lys1821Asn					FRY_uc010tdw.1_RNA	p.K1821N	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)	41	5959	+		Lung SC(185;0.0271)	1821					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5463G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039803	0.93630	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.27402	1.67	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	M	0.81942	2.565	0.80722	D	1	B	0.33940	0.433	P	0.47915	0.561	T	0.54330	-0.8310	10	0.59425	D	0.04	.	19.9607	0.97248	0.0:0.0:1.0:0.0	.	1821	Q5TBA9	FRY_HUMAN	N	1821;658	ENSP00000369600:K1821N	ENSP00000369600:K1821N	K	+	3	2	FRY	31703373	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.387000	0.66243	2.713000	0.92767	0.585000	0.79938	AAG		0.353	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		32	65	1	0	2.47316e-13	0.003271	3.94742e-13	32	65				
SPG20	23111	broad.mit.edu	37	13	36888510	36888510	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:36888510C>A	ENST00000451493.1	-	6	1554	c.1337G>T	c.(1336-1338)gGt>gTt	p.G446V	SPG20_ENST00000355182.4_Missense_Mutation_p.G446V|SPG20_ENST00000438666.2_Missense_Mutation_p.G446V|SPG20_ENST00000494062.2_Missense_Mutation_p.G446V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	446					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.G446V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GATTGCCTTACCAGTAATCTC	0.403																																							uc001uvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1336-1338)GGT>GTT		spartin							101.0	101.0	101.0					13																	36888510		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36888510C>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1337G>T	13.37:g.36888510C>A	ENSP00000414147:p.Gly446Val					SPG20_uc010ten.1_Missense_Mutation_p.G436V|SPG20_uc001uvm.2_Missense_Mutation_p.G446V|SPG20_uc001uvo.2_Missense_Mutation_p.G446V|SPG20_uc001uvq.2_Missense_Mutation_p.G446V	p.G446V	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	7	1607	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	446					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1337G>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406826	0.83230	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.90133	-2.62;-2.62;-2.62	5.85	5.85	0.93711	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91186	0.4980	10	0.18276	T	0.48	-14.518	13.3636	0.60669	0.0:0.9283:0.0:0.0717	.	446;446	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	446	ENSP00000406061:G446V;ENSP00000347314:G446V;ENSP00000414147:G446V	ENSP00000347314:G446V	G	-	2	0	SPG20	35786510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.498000	0.60373	2.767000	0.95098	0.563000	0.77884	GGT		0.403	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			12	184	1	0	4.3838e-07	0.001855	5.56242e-07	12	184				
FREM2	341640	broad.mit.edu	37	13	39435606	39435606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:39435606G>T	ENST00000280481.7	+	15	7774	c.7558G>T	c.(7558-7560)Gag>Tag	p.E2520*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2520					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2520*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTGGAGCAGAGCCGTTCTC	0.438																																							uc001uwv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7558-7560)GAG>TAG		FRAS1-related extracellular matrix protein 2							140.0	117.0	125.0					13																	39435606		2203	4300	6503	SO:0001587	stop_gained	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39435606G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7558G>T	13.37:g.39435606G>T	ENSP00000280481:p.Glu2520*					FREM2_uc001uww.2_Nonsense_Mutation_p.E606*	p.E2520*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	15	7867	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2520			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	37	c.7558G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	48	14.887845	0.99814	.	.	ENSG00000150893	ENST00000280481	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.261	0.90035	0.0:0.0:1.0:0.0	.	.	.	.	X	2520	.	ENSP00000280481:E2520X	E	+	1	0	FREM2	38333606	1.000000	0.71417	0.997000	0.53966	0.207000	0.24258	9.664000	0.98607	2.368000	0.80403	0.655000	0.94253	GAG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		24	80	1	0	1.12875e-08	0.00632	1.54049e-08	24	80				
AKAP11	11215	broad.mit.edu	37	13	42876961	42876961	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:42876961G>A	ENST00000025301.2	+	8	4254	c.4079G>A	c.(4078-4080)aGt>aAt	p.S1360N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1360					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.S1360N(2)		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)		GGTGGTAATAGTGAGTTGATA	0.413																																							uc001uys.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(4078-4080)AGT>AAT		A-kinase anchor protein 11							108.0	99.0	102.0					13																	42876961		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876961G>A	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.4079G>A	13.37:g.42876961G>A	ENSP00000025301:p.Ser1360Asn						p.S1360N	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)	8	4254	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1360					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4079G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666368	0.03428	.	.	ENSG00000023516	ENST00000025301	T	0.46819	0.86	6.16	5.32	0.75619	.	0.355441	0.31415	N	0.007692	T	0.31575	0.0801	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24297	-1.0164	10	0.17832	T	0.49	.	5.7936	0.18373	0.123:0.1247:0.6351:0.1172	.	1360	Q9UKA4	AKA11_HUMAN	N	1360	ENSP00000025301:S1360N	ENSP00000025301:S1360N	S	+	2	0	AKAP11	41774961	0.010000	0.17322	0.498000	0.27564	0.597000	0.36814	0.758000	0.26447	0.945000	0.37605	-0.824000	0.03097	AGT		0.413	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		28	110	0	0	0	0.00632	0	28	110				
EPSTI1	94240	broad.mit.edu	37	13	43462494	43462494	+	IGR	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:43462494G>T	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313640.7_Silent_p.V375V|EPSTI1_ENST00000313624.7_3'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418																																							uc001uyw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1123-1125)GTC>GTA		epithelial stromal interaction 1 isoform 1							77.0	73.0	75.0					13																	43462494		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462494G>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462494G>T						EPSTI1_uc001uyx.1_3'UTR	p.V375V	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	13	1201	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Error:Variant_position_missing_in_Q96J88_after_alignment					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1125C>A	CCDS9387.1																																																																																				0.418	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		13	68	1	0	4.35082e-09	0.010504	6.01715e-09	13	68				
ENOX1	55068	broad.mit.edu	37	13	43930241	43930241	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:43930241G>T	ENST00000261488.6	-	8	1214	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	ENOX1_ENST00000412891.1_Missense_Mutation_p.R213S|ENOX1_ENST00000540032.1_Missense_Mutation_p.R26S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	213	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.R213S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ACATGAAGGCGGCCTGAATCC	0.532																																							uc001uza.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(637-639)CGC>AGC		ecto-NOX disulfide-thiol exchanger 1							68.0	64.0	65.0					13																	43930241		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43930241G>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.637C>A	13.37:g.43930241G>T	ENSP00000261488:p.Arg213Ser					ENOX1_uc001uzb.3_Missense_Mutation_p.R213S|ENOX1_uc001uzc.3_Missense_Mutation_p.R213S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R26S	p.R213S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	8	937	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	213			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.637C>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505137	0.85282	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.75050	-0.9;-0.9	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.056069	0.64402	D	0.000002	T	0.78773	0.4336	L	0.58969	1.84	0.49051	D	0.999749	P;D	0.57257	0.873;0.979	P;P	0.49276	0.464;0.605	T	0.81649	-0.0837	10	0.87932	D	0	-15.9667	19.2593	0.93961	0.0:0.0:1.0:0.0	.	26;213	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	S	213;213;26	ENSP00000261488:R213S;ENSP00000415054:R213S	ENSP00000261488:R213S	R	-	1	0	ENOX1	42828241	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.067000	0.64357	2.557000	0.86248	0.655000	0.94253	CGC		0.532	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		29	78	1	0	2.85442e-18	0.002096	5.03359e-18	29	78				
RCBTB2	1102	broad.mit.edu	37	13	49086998	49086998	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:49086998T>C	ENST00000344532.3	-	7	806	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y133C|RCBTB2_ENST00000544904.1_Missense_Mutation_p.Y104C|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000481144.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	128					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Y128C(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAGCTGGCTATAAGCATTATG	0.368																																							uc001vch.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(382-384)TAT>TGT		regulator of chromosome condensation and BTB							115.0	110.0	112.0					13																	49086998		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49086998T>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.383A>G	13.37:g.49086998T>C	ENSP00000345144:p.Tyr128Cys					RCBTB2_uc010tgg.1_Missense_Mutation_p.Y133C|RCBTB2_uc001vci.2_Missense_Mutation_p.Y104C|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Missense_Mutation_p.Y132C|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.Y104C	p.Y128C	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	7	754	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	128			RCC1 2.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.383A>G	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.151174	0.78001	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	D;D;D	0.86230	-2.09;-2.09;-2.09	5.63	5.63	0.86233	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.99	D	0.92126	0.5708	10	0.40728	T	0.16	.	16.1324	0.81449	0.0:0.0:0.0:1.0	.	104;133;132;128	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	C	128;132;133;133;104	ENSP00000345144:Y128C;ENSP00000389910:Y133C;ENSP00000443904:Y104C	ENSP00000345144:Y128C	Y	-	2	0	RCBTB2	47984999	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	7.612000	0.82975	2.261000	0.74972	0.477000	0.44152	TAT		0.368	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		40	82	0	0	0	0.009718	0	40	82				
CKAP2	26586	broad.mit.edu	37	13	53030734	53030734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:53030734G>T	ENST00000378037.5	+	2	237	c.147G>T	c.(145-147)atG>atT	p.M49I	CKAP2_ENST00000258607.5_Missense_Mutation_p.M49I|CKAP2_ENST00000378034.3_Missense_Mutation_p.M49I|CKAP2_ENST00000490903.1_Start_Codon_SNP_p.M1I	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.M49I(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAATGAGATGTTATCCAGGT	0.323																																							uc001vgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(145-147)ATG>ATT		cytoskeleton associated protein 2 isoform 2							111.0	111.0	111.0					13																	53030734		2203	4300	6503	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53030734G>T	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.147G>T	13.37:g.53030734G>T	ENSP00000367276:p.Met49Ile					CKAP2_uc001vgt.2_Missense_Mutation_p.M49I|CKAP2_uc001vgu.2_Missense_Mutation_p.M49I|CKAP2_uc010tha.1_Missense_Mutation_p.M1I	p.M49I	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	2	344	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	49						Missense_Mutation	SNP	ENST00000378037.5	37	c.147G>T	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.563571	0.00903	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903;ENST00000480747	T;T;T;T;T	0.30448	1.53;1.53;1.53;2.46;1.53	3.74	-0.344	0.12628	.	1.564340	0.03498	N	0.217590	T	0.11750	0.0286	N	0.05383	-0.06	0.32338	N	0.560169	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39800	-0.9596	10	0.02654	T	1	-1.4804	0.6256	0.00785	0.4426:0.1715:0.2185:0.1674	.	1;49;49;49	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	I	49;49;49;49;1;1	ENSP00000258607:M49I;ENSP00000367273:M49I;ENSP00000367276:M49I;ENSP00000417830:M1I;ENSP00000418224:M1I	ENSP00000258607:M49I	M	+	3	0	CKAP2	51928735	0.008000	0.16893	0.002000	0.10522	0.040000	0.13550	0.164000	0.16542	-0.154000	0.11118	-0.484000	0.04775	ATG		0.323	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			21	73	1	0	4.26978e-12	0.00333	6.56478e-12	21	73				
PCDH20	64881	broad.mit.edu	37	13	61985498	61985498	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:61985498A>T	ENST00000409186.1	-	5	4839	c.2734T>A	c.(2734-2736)Tgt>Agt	p.C912S	PCDH20_ENST00000409204.4_Missense_Mutation_p.C912S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	912					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C912S(1)|p.C885S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCCTTAAACAGATGTATATG	0.433																																							uc001vid.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2734-2736)TGT>AGT		protocadherin 20							90.0	79.0	83.0					13																	61985498		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985498A>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2734T>A	13.37:g.61985498A>T	ENSP00000386653:p.Cys912Ser					PCDH20_uc010thj.1_Missense_Mutation_p.C912S	p.C912S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	3098	-		Breast(118;0.195)|Prostate(109;0.229)	885			Cytoplasmic (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2734T>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273221	0.80580	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.58652	0.32;0.32	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.66406	0.2786	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62548	-0.6831	10	0.27082	T	0.32	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	912	A8K1K9	.	S	912;912;658	ENSP00000387250:C912S;ENSP00000386653:C912S	ENSP00000351500:C658S	C	-	1	0	PCDH20	60883499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.326000	0.78906	0.533000	0.62120	TGT		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		14	50	0	0	0	0.004007	0	14	50				
PCDH20	64881	broad.mit.edu	37	13	61985943	61985943	+	Silent	SNP	C	C	A	rs370959201		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:61985943C>A	ENST00000409186.1	-	5	4394	c.2289G>T	c.(2287-2289)ccG>ccT	p.P763P	PCDH20_ENST00000409204.4_Silent_p.P763P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	763	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P763P(1)|p.P736P(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTCTGTAACCGGGGAGCCTG	0.458																																							uc001vid.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2287-2289)CCG>CCT		protocadherin 20							75.0	80.0	78.0					13																	61985943		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985943C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2289G>T	13.37:g.61985943C>A						PCDH20_uc010thj.1_Silent_p.P763P	p.P763P	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2653	-		Breast(118;0.195)|Prostate(109;0.229)	736			Cadherin 6.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2289G>T	CCDS9442.2																																																																																				0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		24	98	1	0	1.10923e-09	0.00278	1.56485e-09	24	98				
PCDH9	5101	broad.mit.edu	37	13	67801880	67801880	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:67801880C>A	ENST00000377865.2	-	1	827	c.693G>T	c.(691-693)caG>caT	p.Q231H	PCDH9_ENST00000456367.1_Missense_Mutation_p.Q231H|PCDH9_ENST00000544246.1_Missense_Mutation_p.Q231H|PCDH9_ENST00000377861.3_Missense_Mutation_p.Q231H|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q231H			Q9HC56	PCDH9_HUMAN	protocadherin 9	231	Cadherin 2. {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.Q231H(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)		TACTGGATTTCTGTGGAGTGC	0.438																																							uc001vik.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(691-693)CAG>CAT		protocadherin 9 isoform 1 precursor							142.0	130.0	134.0					13																	67801880		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801880C>A	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.693G>T	13.37:g.67801880C>A	ENSP00000367096:p.Gln231His					PCDH9_uc001vil.2_Missense_Mutation_p.Q231H|PCDH9_uc010thl.1_Missense_Mutation_p.Q231H|PCDH9_uc001vin.3_Missense_Mutation_p.Q231H	p.Q231H	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1385	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	231			Extracellular (Potential).|Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.693G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103476	0.37145	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	6.17	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.55990	1.75	0.54753	D	0.999986	D;D;D;D	0.64830	0.994;0.994;0.993;0.994	D;D;D;D	0.68943	0.942;0.961;0.935;0.942	T	0.62728	-0.6793	10	0.59425	D	0.04	.	12.8736	0.57978	0.0:0.8696:0.0:0.1304	.	231;231;231;231	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	H	231	ENSP00000442186:Q231H;ENSP00000367096:Q231H;ENSP00000401699:Q231H;ENSP00000332060:Q231H;ENSP00000367092:Q231H	ENSP00000332060:Q231H	Q	-	3	2	PCDH9	66699881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.667000	0.46808	0.944000	0.37579	0.655000	0.94253	CAG		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		25	144	1	0	5.45024e-15	0.00333	9.04391e-15	25	144				
DACH1	1602	broad.mit.edu	37	13	72049909	72049909	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:72049909G>A	ENST00000359684.2	-	10	2104	c.2105C>T	c.(2104-2106)aCg>aTg	p.T702M	DACH1_ENST00000313174.7_Missense_Mutation_p.T502M|DACH1_ENST00000305425.4_Missense_Mutation_p.T650M|DACH1_ENST00000354591.4_Missense_Mutation_p.T448M			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	702	Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.T650M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ACGCCGTTTCGTCTCAAACTC	0.388																																							uc010thn.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1942-1944)ACG>ATG		dachshund homolog 1 isoform a							309.0	289.0	295.0					13																	72049909		1899	4116	6015	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049909G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2105C>T	13.37:g.72049909G>A	ENSP00000352712:p.Thr702Met					DACH1_uc010tho.1_Missense_Mutation_p.T500M|DACH1_uc010thp.1_Missense_Mutation_p.T446M	p.T648M	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	10	2366	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	700			Potential.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1943C>T		.	.	.	.	.	.	.	.	.	.	G	26.8	4.767675	0.90020	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.32023	1.49;1.49;1.49;1.47	5.16	5.16	0.70880	.	0.055892	0.64402	D	0.000001	T	0.49012	0.1532	L	0.40543	1.245	0.35293	D	0.782332	D;D;D	0.89917	0.994;1.0;0.994	P;D;P	0.75484	0.855;0.986;0.703	T	0.58025	-0.7709	10	0.59425	D	0.04	-11.3015	19.0141	0.92886	0.0:0.0:1.0:0.0	.	446;500;648	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	M	650;502;448;702;702	ENSP00000304994:T650M;ENSP00000318506:T502M;ENSP00000346604:T448M;ENSP00000352712:T702M	ENSP00000304994:T650M	T	-	2	0	DACH1	70947910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.171000	0.64996	2.559000	0.86315	0.655000	0.94253	ACG		0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		65	179	0	0	0	0.00361	0	65	179				
MYCBP2	23077	broad.mit.edu	37	13	77632489	77632489	+	Missense_Mutation	SNP	C	C	A	rs147594639		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:77632489C>A	ENST00000544440.2	-	78	13096	c.13079G>T	c.(13078-13080)gGg>gTg	p.G4360V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G4360V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G4398V					MYC binding protein 2, E3 ubiquitin protein ligase									p.G4398V(1)|p.C4360F(1)|p.G4360V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTAACACCCCCGCATGGATG	0.453																																							uc001vkf.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(13078-13080)GGG>GTG		MYC binding protein 2							154.0	125.0	135.0					13																	77632489		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77632489C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13079G>T	13.37:g.77632489C>A	ENSP00000444596:p.Gly4360Val					MYCBP2_uc010aev.2_Missense_Mutation_p.G3764V|MYCBP2_uc001vke.2_Missense_Mutation_p.G977V	p.G4360V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	79	13170	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4360						Missense_Mutation	SNP	ENST00000544440.2	37	c.13079G>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.997416	0.93227	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31510	1.49;1.49;1.49	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65331	-0.6194	10	0.87932	D	0	.	19.214	0.93768	0.0:1.0:0.0:0.0	.	4360	O75592	MYCB2_HUMAN	V	4360;4398;4360	ENSP00000349892:G4360V;ENSP00000384288:G4398V;ENSP00000444596:G4360V	ENSP00000349892:G4360V	G	-	2	0	MYCBP2	76530490	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.487000	0.81328	2.537000	0.85549	0.585000	0.79938	GGG		0.453	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		13	123	1	0	5.50884e-06	0.001368	6.62272e-06	13	123				
MYCBP2	23077	broad.mit.edu	37	13	77669711	77669711	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:77669711C>A	ENST00000544440.2	-	58	9884	c.9867G>T	c.(9865-9867)atG>atT	p.M3289I	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3289I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M3327I					MYC binding protein 2, E3 ubiquitin protein ligase									p.M3289I(1)|p.M3327I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGACTTGCATTGGTTTTC	0.428																																							uc001vkf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9865-9867)ATG>ATT		MYC binding protein 2							102.0	105.0	104.0					13																	77669711		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77669711C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9867G>T	13.37:g.77669711C>A	ENSP00000444596:p.Met3289Ile					MYCBP2_uc010aev.2_Missense_Mutation_p.M2693I|MYCBP2_uc001vke.2_5'Flank	p.M3289I	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	9958	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3289						Missense_Mutation	SNP	ENST00000544440.2	37	c.9867G>T		.	.	.	.	.	.	.	.	.	.	C	11.62	1.691694	0.30052	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.26810	1.71;1.71;1.71	6.08	6.08	0.98989	.	0.051827	0.85682	D	0.000000	T	0.10809	0.0264	N	0.01352	-0.895	0.45822	D	0.998695	B	0.14012	0.009	B	0.12156	0.007	T	0.32161	-0.9917	10	0.11182	T	0.66	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	3289	O75592	MYCB2_HUMAN	I	3289;3327;3289	ENSP00000349892:M3289I;ENSP00000384288:M3327I;ENSP00000444596:M3289I	ENSP00000349892:M3289I	M	-	3	0	MYCBP2	76567712	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.999000	0.57031	2.894000	0.99253	0.655000	0.94253	ATG		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		16	94	1	0	1.56452e-12	0.007413	2.4359e-12	16	94				
DCT	1638	broad.mit.edu	37	13	95121216	95121216	+	Missense_Mutation	SNP	G	G	A	rs556448735		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:95121216G>A	ENST00000377028.5	-	2	792	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	DCT_ENST00000446125.1_Missense_Mutation_p.R127W|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	127					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R127W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATGTTCTGCCGAATCACTGGT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18073	0.001		0.0	False		,,,				2504	0.0						uc001vlv.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(379-381)CGG>TGG		dopachrome tautomerase isoform 1							189.0	192.0	191.0					13																	95121216		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121216G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.379C>T	13.37:g.95121216G>A	ENSP00000366227:p.Arg127Trp					DCT_uc010afh.2_Missense_Mutation_p.R127W	p.R127W	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	806	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	127			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.379C>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011676	0.54468	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99868	-7.32;-7.32	5.65	4.78	0.61160	Uncharacterised domain, di-copper centre (2);	0.058485	0.64402	D	0.000002	D	0.99896	0.9950	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96231	0.9168	9	.	.	.	-27.0169	14.2194	0.65815	0.0:0.0:0.7059:0.2941	.	127;127	Q09GT4;P40126	.;TYRP2_HUMAN	W	127	ENSP00000366227:R127W;ENSP00000392762:R127W	.	R	-	1	2	DCT	93919217	1.000000	0.71417	0.036000	0.18154	0.187000	0.23431	4.327000	0.59247	1.312000	0.45043	0.655000	0.94253	CGG		0.512	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			21	424	0	0	0	0.002299	0	21	424				
SOX21	11166	broad.mit.edu	37	13	95364147	95364147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:95364147C>A	ENST00000376945.2	-	1	242	c.157G>T	c.(157-159)Gag>Tag	p.E53*	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	53					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E53*(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGCCGCTTCTCCGACTCTGTG	0.637																																							uc001vma.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(157-159)GAG>TAG		SRY-box 21							95.0	92.0	93.0					13																	95364147		2203	4300	6503	SO:0001587	stop_gained	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95364147C>A	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.157G>T	13.37:g.95364147C>A	ENSP00000366144:p.Glu53*					uc001vmb.1_5'Flank	p.E53*	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN			1	243	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		53			HMG box.		P35715|Q15504|Q5TBS1	Nonsense_Mutation	SNP	ENST00000376945.2	37	c.157G>T	CCDS9473.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941138	0.53079	.	.	ENSG00000125285	ENST00000376945	.	.	.	3.17	2.31	0.28768	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.909	0.41394	0.0:0.8931:0.0:0.1069	.	.	.	.	X	53	.	ENSP00000366144:E53X	E	-	1	0	SOX21	94162148	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.540000	0.67205	0.426000	0.26116	-0.339000	0.08088	GAG		0.637	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		11	85	1	0	1.05317e-09	0.00245	1.48897e-09	11	85				
CLYBL	171425	broad.mit.edu	37	13	100543590	100543590	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:100543590G>A	ENST00000376360.1	+	8	973	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	CLYBL_ENST00000376354.1_Missense_Mutation_p.G282R|CLYBL_ENST00000339105.4_Missense_Mutation_p.G316R|CLYBL_ENST00000376355.3_Missense_Mutation_p.G282R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	316						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.G316W(1)|p.G316R(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACTTTCCAAGGGAGTATGAT	0.423																																							uc001vok.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(946-948)GGG>AGG		citrate lyase beta like precursor							115.0	109.0	111.0					13																	100543590		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100543590G>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.946G>A	13.37:g.100543590G>A	ENSP00000365538:p.Gly316Arg						p.G316R	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			8	960	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		316					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.946G>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133350	0.77662	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000376354;ENST00000339105;ENST00000419700;ENST00000425186	T;T;T;T;T	0.61627	0.78;0.74;0.78;0.74;0.09	5.03	5.03	0.67393	.	0.047314	0.85682	D	0.000000	D	0.85191	0.5640	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90737	0.4647	10	0.87932	D	0	-19.1892	18.7527	0.91821	0.0:0.0:1.0:0.0	.	316	Q8N0X4	CLYBL_HUMAN	R	282;316;282;316;79;65	ENSP00000365533:G282R;ENSP00000365538:G316R;ENSP00000365532:G282R;ENSP00000342991:G316R;ENSP00000396574:G79R	ENSP00000342991:G316R	G	+	1	0	CLYBL	99341591	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.248000	0.95456	2.490000	0.84030	0.655000	0.94253	GGG		0.423	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			29	96	0	0	0	0.003271	0	29	96				
NALCN	259232	broad.mit.edu	37	13	101717915	101717915	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101717915T>C	ENST00000251127.6	-	40	4528		c.e40-2			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCACCCCCTGCGGGGCAGA	0.512																																							uc001vox.1		NA																	1	Unknown(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.e40-1		voltage gated channel like 1							63.0	57.0	59.0					13																	101717915		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101717915T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4447-2A>G	13.37:g.101717915T>C							p.G1483_splice	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			40	4636	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	37	c.4447_splice	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684801	0.47991	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9883	0.80179	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NALCN	100515916	1.000000	0.71417	0.999000	0.59377	0.184000	0.23303	7.685000	0.84117	2.172000	0.68678	0.533000	0.62120	.		0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Intron	7	114	0	0	0	0.004482	0	7	114				
NALCN	259232	broad.mit.edu	37	13	101763040	101763040	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101763040C>A	ENST00000251127.6	-	20	2376		c.e20-1			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTAGTGACCTAAAACAACC	0.378																																							uc001vox.1		NA																	1	Unknown(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.e20-1		voltage gated channel like 1							130.0	119.0	123.0					13																	101763040		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763040C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2295-1G>T	13.37:g.101763040C>A							p.R765_splice	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			20	2484	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	37	c.2295_splice	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521599	0.85600	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1566	0.93514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NALCN	100561041	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	7.330000	0.79181	2.604000	0.88044	0.555000	0.69702	.		0.378	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Intron	20	77	1	0	3.62473e-10	0.001882	5.22599e-10	20	77				
NALCN	259232	broad.mit.edu	37	13	101944674	101944674	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101944674G>C	ENST00000251127.6	-	8	924	c.843C>G	c.(841-843)ggC>ggG	p.G281G	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.G281G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	281					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G281G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACACCCAGCCTTCCTGTG	0.478																																							uc001vox.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(841-843)GGC>GGG		voltage gated channel like 1							76.0	63.0	68.0					13																	101944674		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944674G>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.843C>G	13.37:g.101944674G>C						NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Silent_p.G281G|NALCN_uc001vpa.2_Silent_p.G281G	p.G281G	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			8	1032	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		281			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.843C>G	CCDS9498.1																																																																																				0.478	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	52	0	0	0	0.000602	0	5	52				
NALCN	259232	broad.mit.edu	37	13	102029341	102029341	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102029341G>T	ENST00000251127.6	-	5	523	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	NALCN_ENST00000376200.5_Missense_Mutation_p.L148M|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L148M	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	148					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L148M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCATAATCAGTGGCCGTGGA	0.393																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(442-444)CTG>ATG		voltage gated channel like 1							75.0	74.0	75.0					13																	102029341		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029341G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.442C>A	13.37:g.102029341G>T	ENSP00000251127:p.Leu148Met					NALCN_uc001voy.2_Translation_Start_Site|NALCN_uc001voz.2_Missense_Mutation_p.L148M|NALCN_uc001vpa.2_Missense_Mutation_p.L148M	p.L148M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			5	631	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		148			Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.442C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413310	0.62511	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.99089	-5.41;-5.41;-5.41	4.92	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98971	1.0801	10	0.66056	D	0.02	.	13.0425	0.58908	0.0777:0.0:0.9223:0.0	.	148;148	F2Z323;Q8IZF0	.;NALCN_HUMAN	M	148	ENSP00000251127:L148M;ENSP00000365367:L148M;ENSP00000365373:L148M	ENSP00000251127:L148M	L	-	1	2	NALCN	100827342	1.000000	0.71417	0.999000	0.59377	0.660000	0.38997	5.344000	0.65981	1.069000	0.40788	0.650000	0.86243	CTG		0.393	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		7	53	1	0	1.06961e-07	0.00308	1.40521e-07	7	53				
ITGBL1	9358	broad.mit.edu	37	13	102344976	102344976	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102344976G>T	ENST00000376180.3	+	8	1276	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	ITGBL1_ENST00000376162.3_Missense_Mutation_p.D260Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D212Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	353	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.D353Y(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCCAGGAGATCGCCGGGT	0.478																																							uc001vpb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1057-1059)GAT>TAT		integrin, beta-like 1 (with EGF-like repeat							233.0	190.0	205.0					13																	102344976		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102344976G>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1057G>T	13.37:g.102344976G>T	ENSP00000365351:p.Asp353Tyr					ITGBL1_uc010agb.2_Missense_Mutation_p.D304Y|ITGBL1_uc001vpc.3_Missense_Mutation_p.D212Y	p.D353Y	NM_004791	NP_004782	O95965	ITGBL_HUMAN			8	1276	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		353			VII.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1057G>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037479	0.75617	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92048	-2.96;-2.96;-2.96	5.51	5.51	0.81932	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	M	0.63843	1.955	0.80722	D	1	D;D	0.61080	0.989;0.987	P;D	0.64595	0.817;0.927	D	0.94987	0.8131	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	212;353	B3KTP1;O95965	.;ITGBL_HUMAN	Y	353;261;212;212;260	ENSP00000365351:D353Y;ENSP00000439903:D212Y;ENSP00000365332:D260Y	ENSP00000365332:D260Y	D	+	1	0	ITGBL1	101142977	1.000000	0.71417	0.740000	0.30986	0.901000	0.52897	8.439000	0.90308	2.765000	0.95021	0.655000	0.94253	GAT		0.478	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		50	134	1	0	2.43468e-25	0.00361	4.572e-25	50	134				
FGF14	2259	broad.mit.edu	37	13	102375185	102375185	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102375185G>C	ENST00000376143.4	-	5	739	c.740C>G	c.(739-741)aCa>aGa	p.T247R	ITGBL1_ENST00000415285.1_Intron|FGF14_ENST00000376131.4_Missense_Mutation_p.T252R	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	247					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T252R(1)|p.T247R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTATGTTGTCTTACT	0.502																																							uc001vpe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(739-741)ACA>AGA		fibroblast growth factor 14 isoform 1A							284.0	205.0	232.0					13																	102375185		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375185G>C		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.740C>G	13.37:g.102375185G>C	ENSP00000365313:p.Thr247Arg					FGF14_uc001vpf.2_Missense_Mutation_p.T252R|FGF14_uc001vpd.1_5'Flank	p.T247R	NM_004115	NP_004106	Q92915	FGF14_HUMAN			5	740	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		247					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.740C>G	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766759	0.49574	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79554	-1.28;-1.15	5.92	5.92	0.95590	.	0.189192	0.45606	D	0.000360	D	0.83972	0.5370	N	0.19112	0.55	0.58432	D	0.99999	D;D	0.71674	0.998;0.993	D;P	0.70487	0.969;0.738	D	0.85824	0.1387	10	0.87932	D	0	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	252;247	Q92915-2;Q92915	.;FGF14_HUMAN	R	252;247	ENSP00000365301:T252R;ENSP00000365313:T247R	ENSP00000365301:T252R	T	-	2	0	FGF14	101173186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.812000	0.96745	0.563000	0.77884	ACA		0.502	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			8	58	0	0	0	0.00308	0	8	58				
METTL21C	196541	broad.mit.edu	37	13	103338686	103338686	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:103338686G>A	ENST00000267273.6	-	4	495	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	164					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)	p.L164L(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ACTTCAGGCAGATGTGCTGTA	0.418																																							uc001vpj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)CTG>TTG		hypothetical protein LOC196541							87.0	88.0	87.0					13																	103338686		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103338686G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.490C>T	13.37:g.103338686G>A						C13orf39_uc001vpk.2_Silent_p.L164L	p.L164L	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			4	496	-			164						Silent	SNP	ENST00000267273.6	37	c.490C>T	CCDS32003.1																																																																																				0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		49	70	0	0	0	0.00361	0	49	70				
ERCC5	2073	broad.mit.edu	37	13	103514736	103514736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:103514736G>T	ENST00000355739.4	+	8	2660	c.1237G>T	c.(1237-1239)Ggg>Tgg	p.G413W	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R838M	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	413					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G413W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGACGGGAGGGCCAGGAGC	0.483			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1237-1239)GGG>TGG	Direct_reversal_of_damage|NER	XPG-complementing protein							101.0	99.0	100.0					13																	103514736		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514736G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1237G>T	13.37:g.103514736G>T	ENSP00000347978:p.Gly413Trp					ERCC5_uc001vpu.1_Missense_Mutation_p.G867W|ERCC5_uc010tjb.1_Missense_Mutation_p.G413W|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.G245W	p.G413W	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1680	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		413					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1237G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963136	0.53507	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20881	2.04	5.0	1.01	0.19927	.	1.212230	0.05715	N	0.596739	T	0.37237	0.0996	L	0.57536	1.79	0.09310	N	1	D;D;D	0.71674	0.998;0.985;0.995	P;P;P	0.62885	0.908;0.787;0.866	T	0.13953	-1.0490	10	0.66056	D	0.02	0.0342	5.3251	0.15903	0.2969:0.4383:0.2648:0.0	.	413;413;838	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	W	838;413;245	ENSP00000347978:G413W	ENSP00000347978:G413W	G	+	1	0	ERCC5	102312737	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.168000	0.16622	0.140000	0.18849	0.655000	0.94253	GGG		0.483	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			40	56	1	0	1.22674e-20	0.00874	2.21896e-20	40	56				
LIG4	3981	broad.mit.edu	37	13	108863343	108863343	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:108863343G>C	ENST00000356922.4	-	2	546	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	LIG4_ENST00000405925.1_Missense_Mutation_p.L92V|LIG4_ENST00000442234.1_Missense_Mutation_p.L92V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	92					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L92V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCAATATAAAGCTTAGCAAGC	0.383								Non-homologous end-joining																															uc001vqn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CTT>GTT	NHEJ	DNA ligase IV							123.0	128.0	126.0					13																	108863343		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863343G>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.274C>G	13.37:g.108863343G>C	ENSP00000349393:p.Leu92Val					LIG4_uc001vqo.2_Missense_Mutation_p.L92V|LIG4_uc010agg.1_Missense_Mutation_p.L25V|LIG4_uc010agf.2_Missense_Mutation_p.L92V|LIG4_uc001vqp.2_Missense_Mutation_p.L92V	p.L92V	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	547	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		92					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.274C>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390654	0.42410	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	6.05	5.21	0.72293	DNA ligase, ATP-dependent, N-terminal (3);	0.060914	0.64402	D	0.000004	T	0.23210	0.0561	L	0.58428	1.81	0.58432	D	0.999999	B	0.25521	0.128	B	0.38056	0.264	T	0.04178	-1.0971	10	0.36615	T	0.2	.	10.3816	0.44115	0.1467:0.0:0.8533:0.0	.	92	P49917	DNLI4_HUMAN	V	92	ENSP00000385955:L92V;ENSP00000402030:L92V;ENSP00000349393:L92V	ENSP00000349393:L92V	L	-	1	0	LIG4	107661344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.828000	0.55753	1.574000	0.49760	0.643000	0.83706	CTT		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		31	148	0	0	0	0.009535	0	31	148				
COL4A2	1284	broad.mit.edu	37	13	111121563	111121563	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:111121563G>T	ENST00000360467.5	+	28	2401		c.e28-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGTTATTTAGGTGCCAAAGG	0.552																																							uc001vqx.2		NA																	1	Unknown(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.e28-1		alpha 2 type IV collagen preproprotein							99.0	92.0	94.0					13																	111121563		1933	4123	6056	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111121563G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2096-1G>T	13.37:g.111121563G>T							p.G699_splice	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		28	2385	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)						Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.2096_splice	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375296	0.24857	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.462	0.90741	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A2	109919564	1.000000	0.71417	0.994000	0.49952	0.230000	0.25150	4.530000	0.60595	2.445000	0.82738	0.563000	0.77884	.		0.552	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Intron	8	16	1	0	0.000274275	0.004482	0.000306341	8	16				
OR4Q3	441669	broad.mit.edu	37	14	20216346	20216346	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20216346C>T	ENST00000331723.1	+	1	760	c.760C>T	c.(760-762)Cca>Tca	p.P254S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P254S(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATCTTCGTGCCATGCGTATT	0.468																																							uc010tkt.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(760-762)CCA>TCA		olfactory receptor, family 4, subfamily Q,							177.0	175.0	176.0					14																	20216346		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216346C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.760C>T	14.37:g.20216346C>T	ENSP00000330049:p.Pro254Ser						p.P254S	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	760	+	all_cancers(95;0.00108)		254			Helical; Name=6; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.760C>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	9.931	1.214734	0.22289	.	.	ENSG00000182652	ENST00000331723	T	0.00137	8.68	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001232	T	0.00271	0.0008	L	0.33093	0.98	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60084	-0.7332	10	0.87932	D	0	.	9.636	0.39809	0.2083:0.7917:0.0:0.0	.	254	Q8NH05	OR4Q3_HUMAN	S	254	ENSP00000330049:P254S	ENSP00000330049:P254S	P	+	1	0	OR4Q3	19286186	0.000000	0.05858	0.213000	0.23690	0.054000	0.15201	0.137000	0.15995	2.258000	0.74832	0.509000	0.49947	CCA		0.468	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			16	169	0	0	0	0.007413	0	16	169				
OR4M1	441670	broad.mit.edu	37	14	20248994	20248994	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20248994C>A	ENST00000315957.4	+	1	594	c.513C>A	c.(511-513)ccC>ccA	p.P171P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P171P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGGGCCCAATGAGTTAG	0.498																																							uc010tku.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)CCC>CCA		olfactory receptor, family 4, subfamily M,							233.0	236.0	235.0					14																	20248994		2203	4298	6501	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248994C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.513C>A	14.37:g.20248994C>A							p.P171P	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	513	+	all_cancers(95;0.00108)		171			Extracellular (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.513C>A	CCDS32021.1																																																																																				0.498	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			29	305	1	0	3.33393e-15	0.004878	5.56504e-15	29	305				
OR4K2	390431	broad.mit.edu	37	14	20344996	20344996	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20344996G>C	ENST00000298642.2	+	1	606	c.570G>C	c.(568-570)gtG>gtC	p.V190V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V190V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCTTGTGTGGATACTTATG	0.408																																							uc001vwh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(568-570)GTG>GTC		olfactory receptor, family 4, subfamily K,							391.0	387.0	388.0					14																	20344996		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344996G>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.570G>C	14.37:g.20344996G>C							p.V190V	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	570	+	all_cancers(95;0.00108)		190			Extracellular (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.570G>C	CCDS32023.1																																																																																				0.408	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			32	484	0	0	0	0.002096	0	32	484				
OR4K1	79544	broad.mit.edu	37	14	20404275	20404275	+	Silent	SNP	G	G	A	rs375912950		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20404275G>A	ENST00000285600.4	+	1	509	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTCCTGGGCGGTGGGCGTTC	0.463																																							uc001vwj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(448-450)GCG>GCA		olfactory receptor, family 4, subfamily K,							142.0	136.0	138.0					14																	20404275		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404275G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.450G>A	14.37:g.20404275G>A							p.A150A	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	450	+	all_cancers(95;0.00108)		150			Helical; Name=4; (Potential).		B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.450G>A	CCDS32025.1																																																																																				0.463	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			13	129	0	0	0	0.001855	0	13	129				
OR11G2	390439	broad.mit.edu	37	14	20666364	20666364	+	Nonsense_Mutation	SNP	C	C	A	rs376290528		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20666364C>A	ENST00000357366.3	+	1	870	c.870C>A	c.(868-870)taC>taA	p.Y290*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290*(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTGTTCTACGGCTCAGTAC	0.507																																							uc010tlb.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(868-870)TAC>TAA		olfactory receptor, family 11, subfamily G,		C	stop/TYR	0,4406		0,0,2203	163.0	155.0	158.0		870	1.0	1.0	14		158	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR11G2	NM_001005503.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		290/346	20666364	1,13005	2203	4300	6503	SO:0001587	stop_gained	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666364C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.870C>A	14.37:g.20666364C>A	ENSP00000349930:p.Tyr290*						p.Y290*	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	870	+	all_cancers(95;0.00108)		290			Helical; Name=6; (Potential).		Q6IF09|Q96R33	Nonsense_Mutation	SNP	ENST00000357366.3	37	c.870C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	11.21	1.572346	0.28092	0.0	1.16E-4	ENSG00000196832	ENST00000357366	.	.	.	4.94	1.03	0.20045	.	0.000000	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.882	0.29627	0.0:0.4348:0.0:0.5652	.	.	.	.	X	290	.	ENSP00000349930:Y290X	Y	+	3	2	OR11G2	19736204	0.000000	0.05858	0.999000	0.59377	0.004000	0.04260	-0.782000	0.04643	0.380000	0.24823	-0.290000	0.09829	TAC		0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			29	219	1	0	2.81731e-10	0.002096	4.09488e-10	29	219				
NRL	4901	broad.mit.edu	37	14	24551747	24551747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:24551747G>T	ENST00000561028.1	-	2	630	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	NRL_ENST00000396995.1_5'Flank|NRL_ENST00000397002.2_Missense_Mutation_p.P104Q|NRL_ENST00000396997.1_Missense_Mutation_p.P104Q|NRL_ENST00000560550.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	104					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P104Q(1)		lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AACAGGGACTGGGCCCTGACC	0.657																																							uc001wlo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CCA>CAA		neural retina leucine zipper							36.0	40.0	38.0					14																	24551747		2196	4291	6487	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551747G>T		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.311C>A	14.37:g.24551747G>T	ENSP00000454062:p.Pro104Gln					NRL_uc001wlp.2_Missense_Mutation_p.P104Q|NRL_uc001wlq.2_Missense_Mutation_p.P104Q	p.P104Q	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	442	-			104					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.311C>A	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366145	0.41902	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	D;D	0.97378	-4.36;-4.36	4.99	4.1	0.47936	.	0.276961	0.30177	N	0.010239	D	0.90960	0.7158	N	0.21373	0.66	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	D	0.83863	0.0269	10	0.10111	T	0.7	-2.4088	6.0764	0.19917	0.0944:0.0:0.7191:0.1865	.	104	P54845	NRL_HUMAN	Q	104	ENSP00000380197:P104Q;ENSP00000380193:P104Q	ENSP00000337023:P104Q	P	-	2	0	NRL	23621587	1.000000	0.71417	0.479000	0.27329	0.980000	0.70556	2.627000	0.46469	1.319000	0.45190	0.655000	0.94253	CCA		0.657	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			7	72	1	0	2.17888e-05	0.006214	2.56155e-05	7	72				
GZMB	3002	broad.mit.edu	37	14	25101090	25101090	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:25101090G>C	ENST00000216341.4	-	4	680	c.574C>G	c.(574-576)Cca>Gca	p.P192A	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.P226A|GZMB_ENST00000415355.3_Missense_Mutation_p.P180A|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Missense_Mutation_p.P147A			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	192	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P226A(1)|p.P192A(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTAATCTCTGGGTCCCCCACG	0.463																																							uc001wps.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(574-576)CCA>GCA		granzyme B precursor							133.0	125.0	127.0					14																	25101090		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101090G>C	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.574C>G	14.37:g.25101090G>C	ENSP00000216341:p.Pro192Ala					GZMB_uc010ama.2_Missense_Mutation_p.P180A|GZMB_uc010amb.2_RNA	p.P192A	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	640	-			192			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.574C>G	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752645	0.49362	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.3	5.3	0.74995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.246223	0.21433	N	0.074611	D	0.83348	0.5235	L	0.28504	0.86	0.40572	D	0.981313	B;B	0.28233	0.111;0.204	B;B	0.27608	0.068;0.081	T	0.81669	-0.0828	10	0.51188	T	0.08	.	14.3137	0.66434	0.0:0.0:1.0:0.0	.	180;192	Q6XGZ4;P10144	.;GRAB_HUMAN	A	180;192;226;147;97	ENSP00000387385:P180A;ENSP00000216341:P192A;ENSP00000371982:P226A;ENSP00000371980:P147A	ENSP00000216341:P192A	P	-	1	0	GZMB	24170930	0.954000	0.32549	0.954000	0.39281	0.038000	0.13279	1.683000	0.37638	2.760000	0.94817	0.655000	0.94253	CCA		0.463	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		30	208	0	0	0	0.009535	0	30	208				
FAM177A1	283635	broad.mit.edu	37	14	35522515	35522515	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:35522515A>G	ENST00000382406.3	+	3	185	c.128A>G	c.(127-129)gAa>gGa	p.E43G	FAM177A1_ENST00000396472.1_Missense_Mutation_p.E43G|FAM177A1_ENST00000280987.4_Missense_Mutation_p.E66G			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	43								p.E43G(1)		breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GAAAATGTAGAACTGGGAGTC	0.338																																							uc001wsp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAA>GGA		hypothetical protein LOC283635 isoform 2							91.0	91.0	91.0					14																	35522515		2203	4300	6503	SO:0001583	missense	283635							g.chr14:35522515A>G	BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.128A>G	14.37:g.35522515A>G	ENSP00000371843:p.Glu43Gly					FAM177A1_uc001wsq.2_Missense_Mutation_p.E66G	p.E43G	NM_001079519	NP_001072987	Q8N128	F177A_HUMAN			4	587	+			43					Q68CT2	Missense_Mutation	SNP	ENST00000382406.3	37	c.128A>G	CCDS41944.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.793287	0.90453	.	.	ENSG00000151327	ENST00000396472;ENST00000555211;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.62	5.62	0.85841	.	0.053621	0.64402	D	0.000001	T	0.79661	0.4484	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.975	T	0.81801	-0.0766	9	0.59425	D	0.04	.	15.8108	0.78561	1.0:0.0:0.0:0.0	.	66;43	Q8N128-2;Q8N128	.;F177A_HUMAN	G	43;43;43;66;11	.	ENSP00000280987:E66G	E	+	2	0	FAM177A1	34592266	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	2.142000	0.66516	0.533000	0.62120	GAA		0.338	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410816.1	NM_173607		14	96	0	0	0	0.003163	0	14	96				
FSCB	84075	broad.mit.edu	37	14	44975581	44975581	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:44975581T>A	ENST00000340446.4	-	1	901	c.610A>T	c.(610-612)Agc>Tgc	p.S204C	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	204						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S204C(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTCATTGCTGTTTGTTGCT	0.393																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(610-612)AGC>TGC		fibrous sheath CABYR binding protein							131.0	136.0	134.0					14																	44975581		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975581T>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.610A>T	14.37:g.44975581T>A	ENSP00000344579:p.Ser204Cys						p.S204C	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	919	-			204					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.610A>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214910	0.22373	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24151	1.87	3.98	2.81	0.32909	.	.	.	.	.	T	0.38585	0.1046	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.11275	-1.0594	9	0.72032	D	0.01	0.3646	5.84	0.18629	0.0:0.2247:0.0:0.7753	.	204	Q5H9T9	FSCB_HUMAN	C	204	ENSP00000344579:S204C	ENSP00000344579:S204C	S	-	1	0	FSCB	44045331	0.123000	0.22298	0.018000	0.16275	0.009000	0.06853	1.619000	0.36965	0.664000	0.31047	0.533000	0.62120	AGC		0.393	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		11	212	0	0	0	0.001368	0	11	212				
FANCM	57697	broad.mit.edu	37	14	45644869	45644869	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:45644869G>A	ENST00000267430.5	+	14	2997	c.2912G>A	c.(2911-2913)aGa>aAa	p.R971K	FANCM_ENST00000542564.2_Missense_Mutation_p.R945K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	971					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.R971K(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATATTGTTAGAACAGATGAC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(2911-2913)AGA>AAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							52.0	55.0	54.0					14																	45644869		2200	4295	6495	SO:0001583	missense	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45644869G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2912G>A	14.37:g.45644869G>A	ENSP00000267430:p.Arg971Lys					FANCM_uc010anf.2_Missense_Mutation_p.R945K|FANCM_uc001wwe.3_Missense_Mutation_p.R507K|FANCM_uc010ang.2_Missense_Mutation_p.R185K	p.R971K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3011	+			971					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2912G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.618671	0.00828	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.15952	2.96;2.96;2.38	4.81	-0.458	0.12182	.	1.085020	0.06882	N	0.802769	T	0.04998	0.0134	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38112	-0.9676	10	0.05620	T	0.96	.	5.8216	0.18530	0.4222:0.1331:0.4447:0.0	.	945;971	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	971;945;487	ENSP00000267430:R971K;ENSP00000442493:R945K;ENSP00000452033:R487K	ENSP00000267430:R971K	R	+	2	0	FANCM	44714619	0.000000	0.05858	0.001000	0.08648	0.570000	0.35934	-0.926000	0.03988	-0.062000	0.13088	0.591000	0.81541	AGA		0.333	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	72	0	0	0	0.001168	0	5	72				
C14orf183	196913	broad.mit.edu	37	14	50550444	50550444	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:50550444G>A	ENST00000305273.1	-	5	899	c.900C>T	c.(898-900)tcC>tcT	p.S300S	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	300								p.S300S(1)		endometrium(2)|large_intestine(2)|lung(3)	7						GAGGGGTGTGGGAGGAGACTG	0.532																																							uc010tqk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)TCC>TCT		hypothetical protein LOC196913							72.0	81.0	78.0					14																	50550444		2072	4212	6284	SO:0001819	synonymous_variant	196913							g.chr14:50550444G>A	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.900C>T	14.37:g.50550444G>A							p.S300S	NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN			5	900	-			300						Silent	SNP	ENST00000305273.1	37	c.900C>T	CCDS45101.1																																																																																				0.532	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830		25	137	0	0	0	0.00632	0	25	137				
DDHD1	80821	broad.mit.edu	37	14	53529766	53529766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:53529766C>A	ENST00000323669.5	-	7	1660	c.1661G>T	c.(1660-1662)cGg>cTg	p.R554L	DDHD1_ENST00000395606.1_Missense_Mutation_p.R561L|DDHD1_ENST00000357758.3_Missense_Mutation_p.R554L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	554					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R554L(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTCATACAGCCGAACTGGATT	0.388																																							uc001xai.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1660-1662)CGG>CTG		DDHD domain containing 1 isoform c							157.0	149.0	151.0					14																	53529766		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53529766C>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1661G>T	14.37:g.53529766C>A	ENSP00000327104:p.Arg554Leu					DDHD1_uc001xaj.2_Missense_Mutation_p.R561L|DDHD1_uc001xah.2_Missense_Mutation_p.R554L|DDHD1_uc001xag.2_Missense_Mutation_p.R136L|DDHD1_uc001xak.1_5'Flank	p.R554L	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			7	1891	-	Breast(41;0.037)		554					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1661G>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677620	0.47886	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.38722	1.12;1.12;1.12	5.47	5.47	0.80525	.	0.333768	0.31612	N	0.007343	T	0.36386	0.0965	L	0.47716	1.5	0.35739	D	0.818527	B;P;B	0.34780	0.28;0.468;0.03	B;B;B	0.36504	0.225;0.226;0.042	T	0.42155	-0.9468	10	0.21540	T	0.41	-2.1826	11.7357	0.51763	0.0:0.9195:0.0:0.0805	.	561;554;554	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	L	554;561;554;425	ENSP00000327104:R554L;ENSP00000378970:R561L;ENSP00000350401:R554L	ENSP00000327104:R554L	R	-	2	0	DDHD1	52599516	1.000000	0.71417	0.581000	0.28614	0.153000	0.21895	5.778000	0.68940	2.538000	0.85594	0.585000	0.79938	CGG		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			25	132	1	0	1.17739e-12	0.005443	1.84778e-12	25	132				
DDHD1	80821	broad.mit.edu	37	14	53619576	53619576	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:53619576C>A	ENST00000323669.5	-	1	240	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_Missense_Mutation_p.D81Y|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.D81Y	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	81					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D81Y(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGGCAGGGGTCCAGCGCGAGG	0.711																																							uc001xai.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(241-243)GAC>TAC		DDHD domain containing 1 isoform c							29.0	34.0	32.0					14																	53619576		2201	4300	6501	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619576C>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.241G>T	14.37:g.53619576C>A	ENSP00000327104:p.Asp81Tyr					DDHD1_uc001xaj.2_Missense_Mutation_p.D81Y|DDHD1_uc001xah.2_Missense_Mutation_p.D81Y	p.D81Y	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	471	-	Breast(41;0.037)		81					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.241G>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501654	0.85176	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.97	3.97	0.46021	.	0.486113	0.17330	N	0.178164	T	0.67429	0.2892	L	0.36672	1.1	0.39901	D	0.973906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.71735	-0.4503	9	0.66056	D	0.02	-14.4339	14.949	0.71057	0.0:1.0:0.0:0.0	.	81;81;81	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	Y	81	.	ENSP00000327104:D81Y	D	-	1	0	DDHD1	52689326	0.095000	0.21747	0.999000	0.59377	0.962000	0.63368	1.495000	0.35627	2.025000	0.59659	0.455000	0.32223	GAC		0.711	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			6	30	1	0	0.000673444	0.008291	0.000736708	6	30				
BMP4	652	broad.mit.edu	37	14	54418875	54418875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:54418875G>T	ENST00000245451.4	-	3	459	c.66C>A	c.(64-66)agC>agA	p.S22R	BMP4_ENST00000558984.1_Missense_Mutation_p.S22R|BMP4_ENST00000559087.1_Missense_Mutation_p.S22R|BMP4_ENST00000417573.1_Missense_Mutation_p.S22R	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	22					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.S22R(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AACTAGCATGGCTCGCGCCTC	0.582																																							uc001xal.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)AGC>AGA		bone morphogenetic protein 4 preproprotein							55.0	58.0	57.0					14																	54418875		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418875G>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.66C>A	14.37:g.54418875G>T	ENSP00000245451:p.Ser22Arg					BMP4_uc010aoh.2_Missense_Mutation_p.S22R|BMP4_uc001xao.3_Missense_Mutation_p.S22R|BMP4_uc001xan.3_Missense_Mutation_p.S22R	p.S22R	NM_130851	NP_570912	P12644	BMP4_HUMAN			2	253	-			22					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.66C>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625585	0.87560	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72505	-0.66;-0.66	5.2	5.2	0.72013	.	0.000000	0.40728	N	0.001027	T	0.70885	0.3275	L	0.38175	1.15	0.58432	D	0.999998	P	0.49307	0.922	P	0.49528	0.614	T	0.73877	-0.3844	10	0.62326	D	0.03	.	17.9081	0.88926	0.0:0.0:1.0:0.0	.	22	P12644	BMP4_HUMAN	R	22	ENSP00000245451:S22R;ENSP00000394165:S22R	ENSP00000245451:S22R	S	-	3	2	BMP4	53488625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.329000	0.96413	2.717000	0.92951	0.655000	0.94253	AGC		0.582	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		33	88	1	0	6.97489e-18	0.004878	1.21474e-17	33	88				
PCNXL4	64430	broad.mit.edu	37	14	60591258	60591258	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:60591258A>T	ENST00000406854.1	+	9	2923	c.2369A>T	c.(2368-2370)aAa>aTa	p.K790I	PCNXL4_ENST00000404681.2_Missense_Mutation_p.K790I|PCNXL4_ENST00000406949.1_Missense_Mutation_p.K556I|PCNXL4_ENST00000535349.1_De_novo_Start_OutOfFrame|PCNXL4_ENST00000317623.4_Missense_Mutation_p.K556I			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	790						integral component of membrane (GO:0016021)		p.K790I(1)|p.K556I(1)									AATAAAGGGAAAGCACCTCTA	0.398																																							uc001xer.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1666-1668)AAA>ATA		hepatitis C virus F protein-binding protein 2							117.0	127.0	124.0					14																	60591258		2203	4299	6502	SO:0001583	missense	64430					integral to membrane		g.chr14:60591258A>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2369A>T	14.37:g.60591258A>T	ENSP00000384801:p.Lys790Ile					C14orf135_uc001xeq.2_Missense_Mutation_p.K556I|C14orf135_uc010apm.2_RNA	p.K556I	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	8	2189	+		Myeloproliferative disorder(585;0.163)	790					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.1667A>T		.	.	.	.	.	.	.	.	.	.	A	8.339	0.828311	0.16749	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.39	2.87	0.33458	.	1.098940	0.06601	N	0.753724	T	0.19644	0.0472	L	0.44542	1.39	0.09310	N	0.999997	B;B	0.30763	0.143;0.294	B;B	0.21360	0.02;0.034	T	0.23762	-1.0179	10	0.37606	T	0.19	.	4.5359	0.12028	0.688:0.1235:0.0694:0.1192	.	790;556	Q63HM2;B5MC47	CN135_HUMAN;.	I	556;790;556;790	ENSP00000317396:K556I;ENSP00000384801:K790I;ENSP00000385201:K556I;ENSP00000385713:K790I	ENSP00000317396:K556I	K	+	2	0	C14orf135	59661011	0.021000	0.18746	0.002000	0.10522	0.341000	0.28922	2.854000	0.48325	0.977000	0.38444	0.528000	0.53228	AAA		0.398	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		41	106	0	0	0	0.009718	0	41	106				
SNAPC1	6617	broad.mit.edu	37	14	62233743	62233743	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:62233743C>A	ENST00000216294.4	+	2	382	c.278C>A	c.(277-279)cCa>cAa	p.P93Q	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	93	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.P93Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTGTCAACCAAAACAAAAG	0.299																																					NSCLC(27;223 907 37180 39193 46568)	NSCLC(27;223 907 37180 39193 46568)	uc001xft.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(277-279)CCA>CAA		small nuclear RNA activating complex,							86.0	85.0	85.0					14																	62233743		2203	4298	6501	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62233743C>A	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.278C>A	14.37:g.62233743C>A	ENSP00000216294:p.Pro93Gln						p.P93Q	NM_003082	NP_003073	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	2	382	+			93			SNAPC3-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.278C>A	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070658	0.76301	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.82531	0.5057	M	0.72118	2.19	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.81564	-0.0875	9	0.56958	D	0.05	-15.3945	20.6208	0.99490	0.0:1.0:0.0:0.0	.	93	Q16533	SNPC1_HUMAN	Q	93	.	ENSP00000216294:P93Q	P	+	2	0	SNAPC1	61303496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.885000	0.69736	2.882000	0.98803	0.655000	0.94253	CCA		0.299	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		8	42	1	0	0.00621372	0.006214	0.00654636	8	42				
SYNE2	23224	broad.mit.edu	37	14	64408830	64408830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64408830G>T	ENST00000344113.4	+	6	589	c.377G>T	c.(376-378)gGc>gTc	p.G126V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000341472.5_Missense_Mutation_p.G126V|SYNE2_ENST00000356081.3_Missense_Mutation_p.G126V|SYNE2_ENST00000358025.3_Missense_Mutation_p.G126V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G126V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	126	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G126V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTATCCTTGGCCTAATTTGG	0.303																																							uc001xgm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(376-378)GGC>GTC		spectrin repeat containing, nuclear envelope 2							87.0	80.0	82.0					14																	64408830		1815	4079	5894	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64408830G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.377G>T	14.37:g.64408830G>T	ENSP00000341781:p.Gly126Val					SYNE2_uc001xgk.2_Missense_Mutation_p.G126V|SYNE2_uc001xgl.2_Missense_Mutation_p.G126V	p.G126V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	6	607	+			126			CH 1.|Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.377G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548904	0.65311	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26	5.86	5.86	0.93980	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.56097	D	0.000029	D	0.99137	0.9702	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98908	1.0779	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	126;126;126	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	V	126	ENSP00000350719:G126V;ENSP00000341781:G126V;ENSP00000344528:G126V;ENSP00000348382:G126V;ENSP00000452570:G126V	ENSP00000261678:G126V	G	+	2	0	SYNE2	63478583	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.420000	0.97426	2.937000	0.99478	0.650000	0.86243	GGC		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	53	1	0	5.01169e-05	0.00499	5.78137e-05	15	53				
SYNE2	23224	broad.mit.edu	37	14	64635688	64635688	+	Splice_Site	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64635688A>C	ENST00000344113.4	+	93	17211	c.16999A>C	c.(16999-17001)Aga>Cga	p.R5667R	SYNE2_ENST00000555002.1_Splice_Site_p.R2301R|SYNE2_ENST00000357395.3_Splice_Site_p.R2052R|SYNE2_ENST00000394768.2_Splice_Site_p.R2052R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Splice_Site_p.R5667R|SYNE2_ENST00000554584.1_Splice_Site_p.R5542R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5667					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R5667R(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAGAGAACAGGTGAGCTGT	0.468																																							uc001xgm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(16999-17001)AGA>CGA		spectrin repeat containing, nuclear envelope 2							85.0	74.0	77.0					14																	64635688		2203	4300	6503	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64635688A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17000+1A>C	14.37:g.64635688A>C						SYNE2_uc001xgl.2_Silent_p.R5667R|SYNE2_uc010apy.2_Silent_p.R2052R|SYNE2_uc001xgn.2_Silent_p.R629R|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Silent_p.R32R	p.R5667R	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	93	17229	+			5667			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.16999A>C	CCDS41963.1																																																																																				0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Silent	42	55	0	0	0	0.003214	0	42	55				
ESR2	2100	broad.mit.edu	37	14	64746747	64746747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64746747C>T	ENST00000341099.4	-	3	904	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	ESR2_ENST00000358599.5_Missense_Mutation_p.V163I|ESR2_ENST00000353772.3_Missense_Mutation_p.V163I|ESR2_ENST00000267525.6_Missense_Mutation_p.V163I|ESR2_ENST00000555278.1_Missense_Mutation_p.V163I|ESR2_ENST00000553796.1_Missense_Mutation_p.V163I|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000554572.1_Missense_Mutation_p.V163I|ESR2_ENST00000357782.2_Missense_Mutation_p.V163I|ESR2_ENST00000542956.1_Missense_Mutation_p.V163I|ESR2_ENST00000557772.1_Missense_Mutation_p.V163I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	163					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V163I(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACGACCAGACTCCATAGTGA	0.453																																							uc001xha.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(487-489)GTC>ATC		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						236.0	229.0	231.0					14																	64746747		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64746747C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.487G>A	14.37:g.64746747C>T	ENSP00000343925:p.Val163Ile					ESR2_uc001xgu.2_Missense_Mutation_p.V163I|ESR2_uc001xgv.2_Missense_Mutation_p.V163I|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.V163I|ESR2_uc001xgy.1_Missense_Mutation_p.V163I|ESR2_uc001xgz.1_Missense_Mutation_p.V163I|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Missense_Mutation_p.V163I	p.V163I	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	3	955	-			163			NR C4-type.|Nuclear receptor.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.487G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499162	0.96355	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.98;1.0;1.0;0.999	D	0.99232	1.0882	10	0.87932	D	0	.	19.5206	0.95183	0.0:1.0:0.0:0.0	.	163;163;163;163;163	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	I	163	ENSP00000452485:V163I;ENSP00000441792:V163I;ENSP00000450699:V163I;ENSP00000335551:V163I;ENSP00000351412:V163I;ENSP00000450488:V163I;ENSP00000452426:V163I;ENSP00000350427:V163I;ENSP00000451582:V163I;ENSP00000343925:V163I;ENSP00000267525:V163I	ENSP00000267525:V163I	V	-	1	0	ESR2	63816500	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.647000	0.83462	2.623000	0.88846	0.557000	0.71058	GTC		0.453	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			151	276	0	0	0	0.00361	0	151	276				
PLEKHG3	26030	broad.mit.edu	37	14	65209851	65209851	+	Silent	SNP	G	G	T	rs201889024		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:65209851G>T	ENST00000394691.1	+	17	3237	c.3090G>T	c.(3088-3090)ggG>ggT	p.G1030G	PLEKHG3_ENST00000484731.2_Silent_p.G535G|PLEKHG3_ENST00000247226.7_Silent_p.G974G|PLEKHG3_ENST00000471182.2_Silent_p.G563G|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1030							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G974G(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCTCGCCTGGGGGCCGGCCCT	0.672																																							uc001xho.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3088-3090)GGG>GGT		pleckstrin homology domain containing, family G,							62.0	72.0	69.0					14																	65209851		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209851G>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3090G>T	14.37:g.65209851G>T						PLEKHG3_uc001xhn.1_Silent_p.G974G|PLEKHG3_uc001xhp.2_Silent_p.G1151G|PLEKHG3_uc010aqh.1_Silent_p.G572G|PLEKHG3_uc001xhq.1_Silent_p.G535G	p.G1030G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	17	3359	+			1030					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.3090G>T																																																																																					0.672	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		67	190	1	0	1.24833e-42	0.00361	2.46659e-42	67	190				
GALNT16	57452	broad.mit.edu	37	14	69806305	69806305	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:69806305C>T	ENST00000337827.4	+	11	1483	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	GALNT16_ENST00000448469.3_Missense_Mutation_p.R386W|GALNT16_ENST00000553669.1_Missense_Mutation_p.R386W	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	386					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R386W(1)									CTATGAGGCCCGGCCCTCGGC	0.537																																							uc010aqu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1156-1158)CGG>TGG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							81.0	80.0	80.0					14																	69806305		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69806305C>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1156C>T	14.37:g.69806305C>T	ENSP00000336729:p.Arg386Trp					GALNTL1_uc001xla.1_Missense_Mutation_p.R386W|GALNTL1_uc001xlb.1_Missense_Mutation_p.R386W	p.R386W	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	11	1249	+			386			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.1156C>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776473	0.70107	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.68903	-0.36;-0.36;-0.36	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.976;0.987	D	0.83742	0.0204	10	0.62326	D	0.03	.	15.158	0.72759	0.1419:0.8581:0.0:0.0	.	386;386	Q8N428;Q58A55	GLTL1_HUMAN;.	W	386;12;386;386	ENSP00000336729:R386W;ENSP00000402970:R386W;ENSP00000451200:R386W	ENSP00000336729:R386W	R	+	1	2	GALNTL1	68876058	0.992000	0.36948	1.000000	0.80357	0.823000	0.46562	2.642000	0.46596	1.151000	0.42436	0.462000	0.41574	CGG		0.537	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		15	123	0	0	0	0.001882	0	15	123				
DPF3	8110	broad.mit.edu	37	14	73219972	73219972	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:73219972C>A	ENST00000556509.1	-	3	300	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	DPF3_ENST00000546183.1_Splice_Site_p.E111*|DPF3_ENST00000541685.1_Splice_Site_p.E101*	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	101					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.E101*(2)|p.E100*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCACTGACCAGGTTTTATC	0.582																																							uc001xnc.2		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(1)	1						c.(301-303)GAA>TAA		D4, zinc and double PHD fingers, family 3							56.0	59.0	58.0					14																	73219972		1925	4123	6048	SO:0001630	splice_region_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73219972C>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.301+1G>T	14.37:g.73219972C>A						DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Nonsense_Mutation_p.E101*|DPF3_uc010ttq.1_Nonsense_Mutation_p.E111*	p.E101*	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	314	-			101					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Nonsense_Mutation	SNP	ENST00000556509.1	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	C	40	7.996459	0.98602	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2226	0.82267	0.0:1.0:0.0:0.0	.	.	.	.	X	101;101;100;101;111	.	.	E	-	1	0	DPF3	72289725	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.356000	0.66052	2.574000	0.86865	0.561000	0.74099	GAA		0.582	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		Nonsense_Mutation	6	31	1	0	0.00198382	0.001984	0.00212876	6	31				
ACOT6	641372	broad.mit.edu	37	14	74086095	74086096	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:74086095_74086096CT>GA	ENST00000381139.1	+	2	507_508	c.176_177CT>GA	c.(175-177)cCT>cGA	p.P59R	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	59						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.P59R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ATGATTATTCCTAAACTTGTCG	0.401																																							uc001xop.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CCT>CGA		acyl-CoA thioesterase 6																																				SO:0001583	missense	641372					cytosol	carboxylesterase activity	g.chr14:74086095_74086096CT>GA	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		Exception_encountered	14.37:g.74086095_74086096delinsGA	ENSP00000370531:p.Pro59Arg						p.P59R	NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	507_508	+			59						Missense_Mutation	DNP	ENST00000381139.1	37	c.176_177CT>GA	CCDS32118.1																																																																																				0.401	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162		64	102	0	0	0	0.004672	0	64	102				
PROX2	283571	broad.mit.edu	37	14	75330424	75330424	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:75330424G>T	ENST00000445876.1	-	1	113	c.114C>A	c.(112-114)tcC>tcA	p.S38S	PROX2_ENST00000556489.2_Silent_p.S38S|PROX2_ENST00000556084.2_Silent_p.S38S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	38					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S38S(2)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGGAAACGGGGAGTCTCTAT	0.577																																							uc001xqr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(112-114)TCC>TCA		prospero homeobox 2							52.0	53.0	53.0					14																	75330424		2001	4175	6176	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75330424G>T		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.114C>A	14.37:g.75330424G>T						PROX2_uc001xqq.1_5'UTR	p.S38S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	114	-			38					C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.114C>A	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	6.742	0.505634	0.12822	.	.	ENSG00000119608	ENST00000556084	.	.	.	5.59	-2.55	0.06288	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	.	2.669	0.05062	0.1373:0.215:0.414:0.2337	.	.	.	.	H	38	.	.	P	-	2	0	PROX2	74400177	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	0.093000	0.15086	-0.277000	0.09193	0.561000	0.74099	CCC		0.577	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				23	45	1	0	1.96895e-08	0.00278	2.65222e-08	23	45				
NRXN3	9369	broad.mit.edu	37	14	79117635	79117635	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:79117635C>A	ENST00000554719.1	+	3	559	c.68C>A	c.(67-69)cCt>cAt	p.P23H	NRXN3_ENST00000335750.5_Missense_Mutation_p.P23H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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.P23H(2)		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)		CCTGGCTCCCCTGTCAGCAAC	0.468																																							uc001xun.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(67-69)CCT>CAT		neurexin 3 isoform 1 precursor							131.0	119.0	123.0					14																	79117635		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79117635C>A	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.68C>A	14.37:g.79117635C>A	ENSP00000451648:p.Pro23His					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.P157H	p.P23H	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)	3	559	+		Renal(4;0.00876)	396			Laminin G-like 2.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.68C>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228968	0.95173	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.80304	-1.36;-1.36	6.01	6.01	0.97437	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	D	0.90390	0.6992	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.969	D	0.89087	0.3480	8	.	.	.	.	20.5141	0.99211	0.0:1.0:0.0:0.0	.	396;23	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	396;394;23;23	ENSP00000451648:P23H;ENSP00000338349:P23H	.	P	+	2	0	NRXN3	78187388	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	7.818000	0.86416	2.850000	0.98022	0.655000	0.94253	CCT		0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		10	136	1	0	0.000442599	0.006214	0.000490172	10	136				
NRXN3	9369	broad.mit.edu	37	14	79270162	79270162	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:79270162C>T	ENST00000554719.1	+	6	1616	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	NRXN3_ENST00000335750.5_Silent_p.N375N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	153					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.N375N(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)		TCATGGTTAACTTAGGTATCG	0.502																																							uc001xun.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1123-1125)AAC>AAT		neurexin 3 isoform 1 precursor							87.0	74.0	79.0					14																	79270162		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79270162C>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.1125C>T	14.37:g.79270162C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.N509N	p.N375N	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)	6	1616	+		Renal(4;0.00876)	748			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1125C>T	CCDS9870.1																																																																																				0.502	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		22	55	0	0	0	0.00632	0	22	55				
DIO2	1734	broad.mit.edu	37	14	80677676	80677676	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:80677676G>T	ENST00000557010.1	-	3	525	c.140C>A	c.(139-141)aCt>aAt	p.T47N	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.T47N|DIO2_ENST00000555750.1_Missense_Mutation_p.T47N|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000438257.4_Missense_Mutation_p.T47N	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	47					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.T47N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCTCCGCGAGTGGACTTGGA	0.567																																							uc010tvq.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(139-141)ACT>AAT		deiodinase, iodothyronine, type II isoform a							39.0	42.0	41.0					14																	80677676		2033	4179	6212	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677676G>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.140C>A	14.37:g.80677676G>T	ENSP00000451419:p.Thr47Asn					uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.T47N|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.T47N|DIO2_uc010tvr.1_Missense_Mutation_p.T47N|DIO2_uc010asy.2_Missense_Mutation_p.T47N	p.T47N	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	542	-			47					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.140C>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386331	0.42308	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.7	5.7	0.88788	.	0.262348	0.29806	N	0.011159	T	0.38852	0.1056	L	0.34521	1.04	0.32618	N	0.523657	P;P;P;D	0.54772	0.493;0.684;0.773;0.968	B;B;B;P	0.55303	0.107;0.197;0.414;0.773	T	0.48479	-0.9032	10	0.66056	D	0.02	.	15.2514	0.73549	0.0:0.2573:0.7427:0.0	.	47;47;47;47	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	N	47	ENSP00000405854:T47N;ENSP00000451419:T47N;ENSP00000411438:T47N;ENSP00000450980:T47N;ENSP00000451136:T47N	ENSP00000373490:T47N	T	-	2	0	DIO2	79747429	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.456000	0.53000	2.677000	0.91161	0.650000	0.86243	ACT		0.567	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			8	31	1	0	1.52009e-12	0.003163	2.37801e-12	8	31				
TRIP11	9321	broad.mit.edu	37	14	92480596	92480596	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:92480596T>A	ENST00000267622.4	-	7	1522	c.1149A>T	c.(1147-1149)tcA>tcT	p.S383S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	383					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.S383S(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTCTTCCACTGATGCACTCT	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(1147-1149)TCA>TCT		thyroid hormone receptor interactor 11							158.0	141.0	147.0					14																	92480596		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92480596T>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1149A>T	14.37:g.92480596T>A						TRIP11_uc010auf.1_Silent_p.S148S	p.S383S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	7	1937	-			383			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.1149A>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516374	0.27123	.	.	ENSG00000100815	ENST00000554357	T	0.05649	3.41	5.53	-2.9	0.05648	.	0.443552	0.23039	N	0.052639	T	0.03011	0.0089	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.37174	-0.9717	6	.	.	.	.	0.2861	0.00251	0.2695:0.2721:0.2144:0.244	.	.	.	.	C	128	ENSP00000451032:S128C	.	S	-	1	0	TRIP11	91550349	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	-0.692000	0.05127	-0.142000	0.11354	0.459000	0.35465	AGT		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			49	72	0	0	0	0.00361	0	49	72				
SERPINA6	866	broad.mit.edu	37	14	94772489	94772489	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:94772489C>T	ENST00000341584.3	-	4	1097	c.951G>A	c.(949-951)gaG>gaA	p.E317E		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	317					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.E317E(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGCCCATTTCCTCCAGCACAT	0.517																																							uc001ycv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(949-951)GAG>GAA		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						136.0	115.0	122.0					14																	94772489		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94772489C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.951G>A	14.37:g.94772489C>T						SERPINA6_uc010auv.2_RNA	p.E317E	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1055	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	317					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.951G>A	CCDS9924.1																																																																																				0.517	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		7	96	0	0	0	0.00308	0	7	96				
SERPINA11	256394	broad.mit.edu	37	14	94915071	94915071	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:94915071A>T	ENST00000334708.3	-	2	105	c.41T>A	c.(40-42)cTg>cAg	p.L14Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	14					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L196Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACAGAGGCCAGGATCCCTGT	0.532																																							uc001ydd.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(40-42)CTG>CAG		serpin peptidase inhibitor, clade A (alpha-1							61.0	66.0	64.0					14																	94915071		2202	4299	6501	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94915071A>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.41T>A	14.37:g.94915071A>T	ENSP00000335024:p.Leu14Gln						p.L14Q	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	101	-			14					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.41T>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	A	9.884	1.202487	0.22121	.	.	ENSG00000186910	ENST00000334708	D	0.89270	-2.49	4.85	3.71	0.42584	Serpin domain (1);	2.758750	0.02287	N	0.069971	D	0.87525	0.6199	L	0.27053	0.805	0.09310	N	1	P	0.52577	0.954	P	0.50617	0.646	T	0.75277	-0.3374	10	0.23302	T	0.38	.	9.3901	0.38367	0.9146:0.0:0.0853:0.0	.	14	Q86U17	SPA11_HUMAN	Q	14	ENSP00000335024:L14Q	ENSP00000335024:L14Q	L	-	2	0	SERPINA11	93984824	0.861000	0.29849	0.641000	0.29422	0.665000	0.39181	3.192000	0.50989	0.891000	0.36235	0.533000	0.62120	CTG		0.532	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		16	129	0	0	0	0.00499	0	16	129				
ATG2B	55102	broad.mit.edu	37	14	96781496	96781496	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:96781496C>G	ENST00000359933.4	-	23	4530	c.3637G>C	c.(3637-3639)Gag>Cag	p.E1213Q		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1213					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1213Q(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTACCTGCTCATGCCAGCTA	0.363																																							uc001yfi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(3637-3639)GAG>CAG		ATG2 autophagy related 2 homolog B							34.0	33.0	33.0					14																	96781496		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96781496C>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3637G>C	14.37:g.96781496C>G	ENSP00000353010:p.Glu1213Gln						p.E1213Q	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	23	4002	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1213					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3637G>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922723	0.92319	.	.	ENSG00000066739	ENST00000359933	T	0.10382	2.88	5.46	5.46	0.80206	.	0.102753	0.64402	D	0.000004	T	0.21103	0.0508	L	0.50333	1.59	0.58432	D	0.999999	D	0.56521	0.976	P	0.52598	0.703	T	0.00414	-1.1754	10	0.27785	T	0.31	.	19.6732	0.95918	0.0:1.0:0.0:0.0	.	1213	Q96BY7	ATG2B_HUMAN	Q	1213	ENSP00000353010:E1213Q	ENSP00000353010:E1213Q	E	-	1	0	ATG2B	95851249	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	5.486000	0.66856	2.730000	0.93505	0.591000	0.81541	GAG		0.363	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		5	26	0	0	0	0.001168	0	5	26				
C14orf177	283598	broad.mit.edu	37	14	99183589	99183589	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:99183589T>C	ENST00000325812.2	+	4	775	c.356T>C	c.(355-357)gTa>gCa	p.V119A		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	119								p.V119A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAAGGAACTGTAGAACAGATG	0.408																																							uc001yfz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GTA>GCA		hypothetical protein LOC283598							98.0	80.0	86.0					14																	99183589		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99183589T>C	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.356T>C	14.37:g.99183589T>C	ENSP00000321360:p.Val119Ala						p.V119A	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	775	+		Melanoma(154;0.128)	119					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.356T>C	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	T	6.285	0.420693	0.11928	.	.	ENSG00000176605	ENST00000325812	T	0.38722	1.12	3.43	-2.75	0.05914	.	.	.	.	.	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56088	0.791	T	0.20042	-1.0287	9	0.87932	D	0	.	4.2683	0.10775	0.364:0.0:0.3277:0.3083	.	119	Q52M58	CN177_HUMAN	A	119	ENSP00000321360:V119A	ENSP00000321360:V119A	V	+	2	0	C14orf177	98253342	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.258000	0.02863	-0.510000	0.06523	-0.451000	0.05528	GTA		0.408	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		12	63	0	0	0	0.001368	0	12	63				
DYNC1H1	1778	broad.mit.edu	37	14	102446176	102446176	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:102446176C>T	ENST00000360184.4	+	4	803	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	213	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.I213I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCCAATGATCACAAATGTTG	0.393																																							uc001yks.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(637-639)ATC>ATT		cytoplasmic dynein 1 heavy chain 1							135.0	142.0	140.0					14																	102446176		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102446176C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.639C>T	14.37:g.102446176C>T							p.I213I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			4	803	+			213			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.639C>T	CCDS9966.1																																																																																				0.393	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	111	0	0	0	0.00361	0	38	111				
MAGEL2	54551	broad.mit.edu	37	15	23890547	23890547	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:23890547C>A	ENST00000532292.1	-	1	628	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	61					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.E178D(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGCAAAGGTCTCCGGTGTGG	0.587																																							uc001ywj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GAG>GAT		MAGE-like protein 2							58.0	65.0	63.0					15																	23890547		2025	4199	6224	SO:0001583	missense	54551							g.chr15:23890547C>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.534G>T	15.37:g.23890547C>A	ENSP00000433433:p.Glu178Asp						p.E178D	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	629	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.534G>T		.	.	.	.	.	.	.	.	.	.	C	6.382	0.438536	0.12104	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	2.06	0.26882	.	.	.	.	.	T	0.32406	0.0828	N	0.24115	0.695	0.19945	N	0.999947	.	.	.	.	.	.	T	0.23547	-1.0185	5	.	.	.	.	11.8966	0.52659	0.0:0.6614:0.3386:0.0	.	.	.	.	I	210	.	.	R	-	2	0	MAGEL2	21441640	0.000000	0.05858	0.293000	0.24932	0.188000	0.23474	-0.295000	0.08298	0.592000	0.29728	0.655000	0.94253	AGA		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		12	66	1	0	1.3612e-06	0.003163	1.69226e-06	12	66				
UBE3A	7337	broad.mit.edu	37	15	25585362	25585362	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25585362T>A	ENST00000397954.2	-	10	2376	c.2377A>T	c.(2377-2379)Atc>Ttc	p.I793F	SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.I770F|UBE3A_ENST00000566215.1_Missense_Mutation_p.I770F|UBE3A_ENST00000232165.3_Missense_Mutation_p.I790F|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.I770F			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	793	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.I793F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAATGAACGATTTCCCAGAAC	0.363																																							uc001zaq.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2377-2379)ATC>TTC		ubiquitin protein ligase E3A isoform 2							82.0	80.0	81.0					15																	25585362		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25585362T>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2377A>T	15.37:g.25585362T>A	ENSP00000381045:p.Ile793Phe					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.I770F|UBE3A_uc001zas.2_Missense_Mutation_p.I790F|UBE3A_uc001zat.2_Missense_Mutation_p.I770F	p.I793F	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	10	2377	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	793			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2377A>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130732	0.77549	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.51	5.51	0.81932	HECT (4);	0.050844	0.85682	D	0.000000	T	0.64461	0.2600	L	0.60957	1.885	0.80722	D	1	P;B	0.38048	0.616;0.248	B;B	0.42882	0.401;0.248	T	0.64188	-0.6466	10	0.37606	T	0.19	.	15.6208	0.76805	0.0:0.0:0.0:1.0	.	790;793	Q05086-3;Q05086	.;UBE3A_HUMAN	F	790;790;793;770;770	ENSP00000232165:I790F;ENSP00000381045:I793F;ENSP00000411258:I770F;ENSP00000401265:I770F	ENSP00000232165:I790F	I	-	1	0	UBE3A	23136455	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.273000	0.58914	2.076000	0.62316	0.482000	0.46254	ATC		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		10	49	0	0	0	0.008291	0	10	49				
ATP10A	57194	broad.mit.edu	37	15	25940272	25940272	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25940272C>A	ENST00000356865.6	-	14	2893	c.2782G>T	c.(2782-2784)Gac>Tac	p.D928Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	928					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D928Y(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCACTGGTCTAGCAGGGCT	0.597																																							uc010ayu.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2782-2784)GAC>TAC		ATPase, class V, type 10A							87.0	84.0	85.0					15																	25940272		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940272C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2782G>T	15.37:g.25940272C>A	ENSP00000349325:p.Asp928Tyr						p.D928Y	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	2888	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	928			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2782G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341677	0.61073	.	.	ENSG00000206190	ENST00000356865	D	0.82803	-1.65	4.68	3.75	0.43078	HAD-like domain (2);	0.369852	0.32386	N	0.006162	T	0.77452	0.4132	L	0.47190	1.495	0.51012	D	0.999908	B	0.32467	0.372	B	0.32762	0.152	T	0.75651	-0.3244	10	0.42905	T	0.14	-24.15	12.6035	0.56511	0.0:0.9195:0.0:0.0805	.	928	O60312	AT10A_HUMAN	Y	928	ENSP00000349325:D928Y	ENSP00000349325:D928Y	D	-	1	0	ATP10A	23491365	1.000000	0.71417	0.999000	0.59377	0.508000	0.34012	2.928000	0.48908	1.190000	0.43042	0.462000	0.41574	GAC		0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	132	1	0	0.00829132	0.008291	0.00871651	10	132				
GABRB3	2562	broad.mit.edu	37	15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:26806283G>T	ENST00000311550.5	-	8	987	c.876C>A	c.(874-876)caC>caA	p.H292Q	GABRB3_ENST00000400188.3_Missense_Mutation_p.H221Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.H207Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.H348Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.H292Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	292	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.H292Q(2)|p.H348Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCCGAAGGTGGGTGTTGA	0.473																																							uc001zaz.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(874-876)CAC>CAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						182.0	168.0	173.0					15																	26806283		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806283G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.876C>A	15.37:g.26806283G>T	ENSP00000308725:p.His292Gln					GABRB3_uc010uae.1_Missense_Mutation_p.H207Q|GABRB3_uc001zba.2_Missense_Mutation_p.H292Q|GABRB3_uc001zbb.2_Missense_Mutation_p.H348Q	p.H292Q	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1018	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	292			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.876C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064177	0.55432	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.19	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.089468	0.85682	D	0.000000	D	0.87128	0.6100	L	0.47016	1.485	0.58432	D	0.999992	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.70487	0.964;0.947;0.969	D	0.83630	0.0144	10	0.44086	T	0.13	.	8.6422	0.33983	0.3801:0.0:0.6199:0.0	.	348;292;292	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	292;348;292;221;207	ENSP00000308725:H292Q;ENSP00000442408:H348Q;ENSP00000299267:H292Q;ENSP00000383049:H221Q;ENSP00000439169:H207Q	ENSP00000299267:H292Q	H	-	3	2	GABRB3	24357376	0.992000	0.36948	0.971000	0.41717	0.913000	0.54294	0.386000	0.20702	0.221000	0.20879	-0.140000	0.14226	CAC		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			22	121	1	0	2.70639e-06	0.002299	3.3123e-06	22	121				
CHRFAM7A	89832	broad.mit.edu	37	15	30659662	30659662	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:30659662A>G	ENST00000299847.2	-	9	1132	c.679T>C	c.(679-681)Tac>Cac	p.Y227H	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.Y136H|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.Y136H	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	227						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)	p.Y227H(1)		large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGGTGGTGGTACTGCAGCACG	0.632																																							uc001zdt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(679-681)TAC>CAC		CHRNA7-FAM7A fusion isoform 1							129.0	108.0	115.0					15																	30659662		2191	4287	6478	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659662A>G	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.679T>C	15.37:g.30659662A>G	ENSP00000299847:p.Tyr227His					DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.Y136H|CHRFAM7A_uc010azn.2_Missense_Mutation_p.Y136H	p.Y227H	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	9	1245	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	227					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.679T>C	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.212607	0.58452	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.85629	-2.01;-2.01;-2.01	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.056772	0.64402	D	0.000001	D	0.84483	0.5482	M	0.69248	2.105	0.53688	D	0.999979	B	0.24132	0.098	B	0.35688	0.208	T	0.83241	-0.0058	10	0.62326	D	0.03	.	9.8375	0.40977	1.0:0.0:0.0:0.0	.	227	Q494W8	CRFM7_HUMAN	H	227;136;136	ENSP00000299847:Y227H;ENSP00000380927:Y136H;ENSP00000385389:Y136H	ENSP00000299847:Y227H	Y	-	1	0	CHRFAM7A	28446954	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.621000	0.90949	1.258000	0.44101	0.327000	0.21459	TAC		0.632	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		6	116	0	0	0	0.004482	0	6	116				
TRPM1	4308	broad.mit.edu	37	15	31320594	31320594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31320594C>A	ENST00000256552.6	-	25	3381	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.M1095I|TRPM1_ENST00000397795.2_Missense_Mutation_p.M1056I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.M1056I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATAGCACGCCATGAGTGCTG	0.502																																							uc001zfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(3166-3168)ATG>ATT		transient receptor potential cation channel,							66.0	74.0	72.0					15																	31320594		1992	4177	6169	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31320594C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3234G>T	15.37:g.31320594C>A	ENSP00000256552:p.Met1078Ile					TRPM1_uc010azy.2_Missense_Mutation_p.M963I|TRPM1_uc001zfl.2_RNA	p.M1056I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	24	3296	-		all_lung(180;1.92e-11)	1056			Helical; (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.3168G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296190	0.81025	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98400	-4.91;-4.91;-4.91	5.89	5.89	0.94794	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.71036	2.16	0.58432	D	0.999996	D;P	0.56521	0.976;0.89	P;P	0.56751	0.805;0.768	D	0.99457	1.0942	10	0.87932	D	0	-46.9673	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1050;1056	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1056;1095;1078;1056	ENSP00000380897:M1056I;ENSP00000437849:M1095I;ENSP00000256552:M1078I	ENSP00000256552:M1078I	M	-	3	0	TRPM1	29107886	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.089000	0.71384	2.783000	0.95769	0.655000	0.94253	ATG		0.502	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		14	111	1	0	1.52009e-12	0.003163	2.37801e-12	14	111				
TRPM1	4308	broad.mit.edu	37	15	31329943	31329943	+	Missense_Mutation	SNP	C	C	A	rs376766834		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31329943C>A	ENST00000256552.6	-	20	2689	c.2542G>T	c.(2542-2544)Gcg>Tcg	p.A848S	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.A865S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A826S	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.A826T(2)|p.A826S(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACAATGGGCGCGTTATAGAAT	0.408																																							uc001zfm.2		NA																	3	Substitution - Missense(3)		upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2476-2478)GCG>TCG		transient receptor potential cation channel,							162.0	148.0	153.0					15																	31329943		1902	4124	6026	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31329943C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2542G>T	15.37:g.31329943C>A	ENSP00000256552:p.Ala848Ser					TRPM1_uc010azy.2_Missense_Mutation_p.A733S|TRPM1_uc001zfl.2_RNA	p.A826S	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2604	-		all_lung(180;1.92e-11)	826			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.2476G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345247	0.61073	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74737	-0.87;-0.87;-0.87	4.88	4.88	0.63580	.	0.054439	0.64402	D	0.000001	D	0.85754	0.5770	M	0.72479	2.2	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.87543	0.2460	10	0.87932	D	0	-22.2577	18.4281	0.90615	0.0:1.0:0.0:0.0	.	820;826	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	S	826;865;848;826	ENSP00000380897:A826S;ENSP00000437849:A865S;ENSP00000256552:A848S	ENSP00000256552:A848S	A	-	1	0	TRPM1	29117235	1.000000	0.71417	0.520000	0.27837	0.230000	0.25150	6.039000	0.70972	2.420000	0.82092	0.655000	0.94253	GCG		0.408	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		8	88	1	0	7.48243e-07	0.006214	9.3972e-07	8	88				
TRPM1	4308	broad.mit.edu	37	15	31355409	31355409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31355409C>A	ENST00000256552.6	-	8	1024	c.877G>T	c.(877-879)Gag>Tag	p.E293*	TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E310*|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E271*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E271*(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGGGAGGCTCTTCTTGCAGG	0.592																																							uc001zfm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(811-813)GAG>TAG		transient receptor potential cation channel,							78.0	86.0	84.0					15																	31355409		2058	4200	6258	SO:0001587	stop_gained	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355409C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.877G>T	15.37:g.31355409C>A	ENSP00000256552:p.Glu293*					TRPM1_uc010azy.2_Nonsense_Mutation_p.E184*|TRPM1_uc001zfl.2_RNA	p.E271*	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	939	-		all_lung(180;1.92e-11)	271			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000256552.6	37	c.811G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361878	0.98235	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.67	5.67	0.87782	.	0.398987	0.32343	N	0.006226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.4484	19.7848	0.96432	0.0:1.0:0.0:0.0	.	.	.	.	X	271;310;293;271	.	ENSP00000256552:E293X	E	-	1	0	TRPM1	29142701	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	6.046000	0.71029	2.673000	0.90976	0.655000	0.94253	GAG		0.592	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		28	111	1	0	2.61193e-14	0.009535	4.25873e-14	28	111				
OTUD7A	161725	broad.mit.edu	37	15	31779707	31779707	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31779707C>A	ENST00000307050.4	-	9	1305	c.1213G>T	c.(1213-1215)Ggc>Tgc	p.G405C	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G412C	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	405	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G405C(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGTCCTTGCCAGGGTCCACT	0.612																																							uc001zfq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1213-1215)GGC>TGC		OTU domain containing 7A							90.0	77.0	81.0					15																	31779707		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31779707C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1213G>T	15.37:g.31779707C>A	ENSP00000305926:p.Gly405Cys					OTUD7A_uc001zfr.2_Missense_Mutation_p.G412C	p.G405C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	9	1306	-		all_lung(180;1.6e-09)	405			Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1213G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592307	0.86953	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.56103	0.57;0.48	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79783	-0.1658	10	0.87932	D	0	-33.1324	17.7683	0.88484	0.0:1.0:0.0:0.0	.	412;405	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	C	405;412	ENSP00000305926:G405C;ENSP00000372358:G412C	ENSP00000305926:G405C	G	-	1	0	OTUD7A	29566999	1.000000	0.71417	0.906000	0.35671	0.995000	0.86356	7.136000	0.77285	2.229000	0.72834	0.555000	0.69702	GGC		0.612	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		4	47	1	0	0.00024832	0.009096	0.000278935	4	47				
RYR3	6263	broad.mit.edu	37	15	33941313	33941313	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:33941313C>A	ENST00000389232.4	+	31	4089	c.4019C>A	c.(4018-4020)cCa>cAa	p.P1340Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P1340Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1340	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.P1340Q(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)		GGACAGGATCCATCCTGTGTC	0.532																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4018-4020)CCA>CAA		ryanodine receptor 3							123.0	123.0	123.0					15																	33941313		1958	4161	6119	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33941313C>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.4019C>A	15.37:g.33941313C>A	ENSP00000373884:p.Pro1340Gln					RYR3_uc010bar.2_Missense_Mutation_p.P1340Q	p.P1340Q	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)	31	4089	+		all_lung(180;7.18e-09)	1340			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4019C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396896	0.62177	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.59906	0.23;0.23	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72075	0.976;0.939	T	0.80837	-0.1204	10	0.87932	D	0	.	18.8751	0.92331	0.0:1.0:0.0:0.0	.	1340;1340	Q15413-2;Q15413	.;RYR3_HUMAN	Q	1340	ENSP00000373884:P1340Q;ENSP00000399610:P1340Q	ENSP00000354735:P1340Q	P	+	2	0	RYR3	31728605	1.000000	0.71417	0.997000	0.53966	0.347000	0.29111	5.718000	0.68455	2.705000	0.92388	0.650000	0.86243	CCA		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	126	1	0	2.46105e-21	0.002096	4.47629e-21	27	126				
EMC7	56851	broad.mit.edu	37	15	34376541	34376541	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:34376541C>A	ENST00000256545.4	-	5	831	c.723G>T	c.(721-723)agG>agT	p.R241S		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	241						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R241S(1)									CTGACTACCTCCTTTTGCCAG	0.478																																							uc001zhm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(721-723)AGG>AGT		chromosome 15 open reading frame 24 precursor							115.0	96.0	102.0					15																	34376541		2201	4298	6499	SO:0001583	missense	56851					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding	g.chr15:34376541C>A	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.723G>T	15.37:g.34376541C>A	ENSP00000256545:p.Arg241Ser					C15orf24_uc001zhn.2_Missense_Mutation_p.R124S	p.R241S	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	5	736	-		all_lung(180;1.76e-08)	241			Cytoplasmic (Potential).		B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.723G>T	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.332905|3.332905	0.60853|0.60853	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000527822|ENST00000256545	.|.	.|.	.|.	5.05|5.05	2.19|2.19	0.27852|0.27852	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.66538	.|0.2799	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.73708	.|0.981	.|T	.|0.65179	.|-0.6231	.|9	.|0.66056	.|D	.|0.02	-19.0476|-19.0476	10.0151|10.0151	0.42010|0.42010	0.0:0.7863:0.0:0.2137|0.0:0.7863:0.0:0.2137	.|.	.|241	.|Q9NPA0	.|CO024_HUMAN	X|S	191|241	.|.	.|ENSP00000256545:R241S	E|R	-|-	1|3	0|2	C15orf24|C15orf24	32163833|32163833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.967000|3.967000	0.56802|0.56802	0.318000|0.318000	0.23185|0.23185	0.557000|0.557000	0.71058|0.71058	GAG|AGG		0.478	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	79	1	0	5.18039e-06	0.00308	6.26229e-06	7	79				
TMCO5A	145942	broad.mit.edu	37	15	38229100	38229100	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:38229100G>A	ENST00000319669.4	+	3	295	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMCO5A_ENST00000540944.1_Missense_Mutation_p.E65K|TMCO5A_ENST00000558158.1_Missense_Mutation_p.E65K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E65K	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	65						integral component of membrane (GO:0016021)		p.E65K(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGAAGAGTGGGAGAAGGAGAA	0.522																																							uc001zjw.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)GAG>AAG		transmembrane and coiled-coil domains 5A							112.0	112.0	112.0					15																	38229100		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38229100G>A	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.193G>A	15.37:g.38229100G>A	ENSP00000327234:p.Glu65Lys					TMCO5A_uc001zjv.1_Missense_Mutation_p.E65K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E65K	p.E65K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			3	296	+			65			Potential.		Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.193G>A	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929441	0.52759	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	4.42	0.53409	.	0.101645	0.44097	D	0.000497	T	0.67059	0.2853	L	0.48877	1.53	0.36642	D	0.876885	D;D	0.76494	0.999;0.964	D;P	0.83275	0.996;0.71	T	0.66995	-0.5782	9	0.30854	T	0.27	-8.0111	12.8514	0.57860	0.0:0.0:1.0:0.0	.	65;65	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	K	65	.	ENSP00000327234:E65K	E	+	1	0	TMCO5A	36016392	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	2.231000	0.43009	2.746000	0.94184	0.655000	0.94253	GAG		0.522	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		8	35	0	0	0	0.004482	0	8	35				
DISP2	85455	broad.mit.edu	37	15	40659862	40659862	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40659862C>A	ENST00000267889.3	+	8	1636	c.1549C>A	c.(1549-1551)Ctg>Atg	p.L517M	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	517	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.L517M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTCATGGTGCTGCTGGGGGT	0.612																																							uc001zlk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1549-1551)CTG>ATG		dispatched B							101.0	89.0	93.0					15																	40659862		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659862C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1549C>A	15.37:g.40659862C>A	ENSP00000267889:p.Leu517Met						p.L517M	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1638	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	517			Helical; (Potential).|SSD.		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.1549C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	4.696	0.129335	0.08981	.	.	ENSG00000140323	ENST00000267889	D	0.96365	-3.99	5.58	3.36	0.38483	Sterol-sensing domain (1);	0.370718	0.26669	N	0.023109	D	0.90317	0.6971	N	0.17800	0.525	0.39016	D	0.959648	P	0.47191	0.891	P	0.47299	0.543	D	0.87625	0.2512	10	0.06365	T	0.9	-12.0388	4.4783	0.11755	0.1272:0.594:0.1242:0.1546	.	517	A7MBM2	DISP2_HUMAN	M	517	ENSP00000267889:L517M	ENSP00000267889:L517M	L	+	1	2	DISP2	38447154	0.268000	0.24133	1.000000	0.80357	0.939000	0.58152	0.136000	0.15974	1.354000	0.45846	0.561000	0.74099	CTG		0.612	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		23	91	1	0	2.79863e-10	0.004656	4.07375e-10	23	91				
KNSTRN	90417	broad.mit.edu	37	15	40678594	40678594	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40678594C>A	ENST00000249776.8	+	3	451	c.336C>A	c.(334-336)ctC>ctA	p.L112L	KNSTRN_ENST00000448395.2_Silent_p.L112L|KNSTRN_ENST00000608100.1_Silent_p.L34L|KNSTRN_ENST00000416151.2_Silent_p.L112L	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.L112L(1)									CTAAGAGTCTCTTACCTGTTA	0.443																																							uc001zll.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)CTC>CTA		TRAF4 associated factor 1 isoform a							83.0	79.0	80.0					15																	40678594		1886	4120	6006	SO:0001819	synonymous_variant	90417					nucleus	protein binding	g.chr15:40678594C>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.336C>A	15.37:g.40678594C>A						C15orf23_uc010ucp.1_Silent_p.L112L|C15orf23_uc001zlo.2_Silent_p.L112L|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_Intron	p.L112L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	3	451	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	112						Silent	SNP	ENST00000249776.8	37	c.336C>A	CCDS42021.1																																																																																				0.443	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		9	69	1	0	6.40141e-05	0.000978	7.35004e-05	9	69				
BAHD1	22893	broad.mit.edu	37	15	40751731	40751731	+	Silent	SNP	G	G	T	rs537044689		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40751731G>T	ENST00000416165.1	+	2	1139	c.1068G>T	c.(1066-1068)ccG>ccT	p.P356P	BAHD1_ENST00000560846.1_Silent_p.P356P|BAHD1_ENST00000561234.1_Silent_p.P356P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	356	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.P356P(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGCTGCCGATGCCTGGCA	0.637																																							uc001zlu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1066-1068)CCG>CCT		bromo adjacent homology domain containing 1							64.0	64.0	64.0					15																	40751731		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751731G>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1068G>T	15.37:g.40751731G>T						BAHD1_uc001zlt.2_Silent_p.P356P|BAHD1_uc010bbp.1_Silent_p.P356P|BAHD1_uc001zlv.2_Silent_p.P356P	p.P356P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	1139	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	356			Pro-rich.		Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.1068G>T	CCDS10058.1																																																																																				0.637	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		26	68	1	0	6.00712e-18	0.002445	1.05178e-17	26	68				
TMEM87A	25963	broad.mit.edu	37	15	42529730	42529730	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:42529730C>G	ENST00000389834.4	-	9	1032	c.768G>C	c.(766-768)ctG>ctC	p.L256L	TMEM87A_ENST00000448392.1_Silent_p.L195L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	256						integral component of membrane (GO:0016021)		p.L256L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTGAATTCTCAGGAGATCTC	0.428																																							uc010udd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(766-768)CTG>CTC		transmembrane protein 87A isoform 1							88.0	79.0	82.0					15																	42529730		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42529730C>G	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.768G>C	15.37:g.42529730C>G						TMEM87A_uc001zpf.3_Silent_p.L195L|TMEM87A_uc010bcu.1_Silent_p.L195L	p.L256L	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	9	927	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	256					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.768G>C	CCDS32205.1																																																																																				0.428	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		8	41	0	0	0	0.004482	0	8	41				
TP53BP1	7158	broad.mit.edu	37	15	43749322	43749322	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:43749322G>A	ENST00000263801.3	-	12	1721	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S495F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S495F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S495F|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	490					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.S490F(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)		TGAAGTTTTAGAACACTCAAC	0.388								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.(1468-1470)TCT>TTT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							75.0	74.0	74.0					15																	43749322		2201	4298	6499	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.chr15:43749322G>A	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.1469C>T	15.37:g.43749322G>A	ENSP00000263801:p.Ser490Phe					TP53BP1_uc010udp.1_Missense_Mutation_p.S490F|TP53BP1_uc001zrq.3_Missense_Mutation_p.S495F|TP53BP1_uc001zrr.3_Missense_Mutation_p.S495F|TP53BP1_uc010udq.1_Missense_Mutation_p.S495F	p.S490F	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	1617	-		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)	490					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1469C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483322	0.63962	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.16073	3.29;3.29;3.25;3.28;2.37	4.76	4.76	0.60689	.	0.073621	0.56097	D	0.000028	T	0.42607	0.1210	M	0.70595	2.14	0.41571	D	0.988682	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.83275	0.99;0.986;0.996;0.996	T	0.33343	-0.9872	10	0.59425	D	0.04	-12.0958	17.294	0.87164	0.0:0.0:1.0:0.0	.	495;490;495;495	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	F	490;495;495;495;495	ENSP00000263801:S490F;ENSP00000371475:S495F;ENSP00000371470:S495F;ENSP00000393497:S495F;ENSP00000388028:S495F	ENSP00000263801:S490F	S	-	2	0	TP53BP1	41536614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.384000	0.59607	2.627000	0.88993	0.655000	0.94253	TCT		0.388	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			12	50	0	0	0	0.001368	0	12	50				
DUOX2	50506	broad.mit.edu	37	15	45386463	45386463	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45386463T>A	ENST00000603300.1	-	34	4734	c.4532A>T	c.(4531-4533)aAg>aTg	p.K1511M	DUOX2_ENST00000389039.6_Missense_Mutation_p.K1511M	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1511					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.K1511M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCCCGATCTTGCGCACCTG	0.577																																							uc010bea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(4531-4533)AAG>ATG		dual oxidase 2 precursor							80.0	72.0	74.0					15																	45386463		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386463T>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4532A>T	15.37:g.45386463T>A	ENSP00000475084:p.Lys1511Met					DUOX2_uc001zun.2_Missense_Mutation_p.K1511M	p.K1511M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	34	4735	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1511			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4532A>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578771	0.86645	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	5.36	0.76844	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88023	0.2770	9	0.87932	D	0	-27.9446	14.819	0.70055	0.0:0.0:0.0:1.0	.	1511	Q9NRD8	DUOX2_HUMAN	M	1511	.	ENSP00000373691:K1511M	K	-	2	0	DUOX2	43173755	1.000000	0.71417	0.943000	0.38184	0.880000	0.50808	6.111000	0.71541	2.164000	0.68074	0.533000	0.62120	AAG		0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		5	52	0	0	0	0.001984	0	5	52				
DUOX2	50506	broad.mit.edu	37	15	45387703	45387703	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45387703G>A	ENST00000603300.1	-	31	4373	c.4171C>T	c.(4171-4173)Ccc>Tcc	p.P1391S	DUOX2_ENST00000389039.6_Missense_Mutation_p.P1391S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1391					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.P1391S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAGGCAAAGGGGGTGACCCCA	0.537																																							uc010bea.2		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(4171-4173)CCC>TCC		dual oxidase 2 precursor							151.0	129.0	137.0					15																	45387703		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387703G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4171C>T	15.37:g.45387703G>A	ENSP00000475084:p.Pro1391Ser					DUOX2_uc001zun.2_Missense_Mutation_p.P1391S	p.P1391S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	31	4374	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1391			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4171C>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168855	0.94768	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	H	0.97962	4.115	0.80722	D	1	D	0.60575	0.988	D	0.73708	0.981	D	0.93483	0.6829	9	0.87932	D	0	-24.732	19.116	0.93340	0.0:0.0:1.0:0.0	.	1391	Q9NRD8	DUOX2_HUMAN	S	1391	.	ENSP00000373691:P1391S	P	-	1	0	DUOX2	43174995	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.860000	0.99555	2.768000	0.95171	0.561000	0.74099	CCC		0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		21	104	0	0	0	0.00278	0	21	104				
DUOX2	50506	broad.mit.edu	37	15	45400285	45400285	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45400285G>T	ENST00000603300.1	-	13	1736	c.1534C>A	c.(1534-1536)Cgg>Agg	p.R512R	DUOX2_ENST00000389039.6_Silent_p.R512R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	512	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R512R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCACCATCCCGCAGCCGTACA	0.622																																							uc010bea.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1534-1536)CGG>AGG		dual oxidase 2 precursor							84.0	85.0	85.0					15																	45400285		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45400285G>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1534C>A	15.37:g.45400285G>T						DUOX2_uc001zun.2_Silent_p.R512R	p.R512R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	13	1737	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	512			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.1534C>A	CCDS10117.1																																																																																				0.622	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		19	98	1	0	1.28384e-07	0.001882	1.67546e-07	19	98				
SEMA6D	80031	broad.mit.edu	37	15	48056062	48056062	+	Missense_Mutation	SNP	G	G	T	rs369660405		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:48056062G>T	ENST00000316364.5	+	10	1202	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	SEMA6D_ENST00000558816.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V255L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V255L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V255L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V255L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V255L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	255	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V255L(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTATTCCCGCGTGGCCCGCAT	0.498																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(763-765)GTG>TTG		semaphorin 6D isoform 4 precursor							138.0	135.0	136.0					15																	48056062		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056062G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.763G>T	15.37:g.48056062G>T	ENSP00000324857:p.Val255Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.V255L|SEMA6D_uc001zvx.1_Missense_Mutation_p.V255L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V255L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V255L|SEMA6D_uc001zwa.2_Missense_Mutation_p.V255L|SEMA6D_uc001zwb.2_Missense_Mutation_p.V255L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V255L	p.V255L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1123	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	255			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.763G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627528	0.96671	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.998	T	0.76277	-0.3018	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	255;255;255;255;255	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	255	ENSP00000442040:V255L;ENSP00000446152:V255L;ENSP00000324857:V255L;ENSP00000374084:V255L;ENSP00000374083:V255L;ENSP00000346786:V255L;ENSP00000350770:V255L;ENSP00000374079:V255L;ENSP00000348276:V255L;ENSP00000374076:V255L	ENSP00000324857:V255L	V	+	1	0	SEMA6D	45843354	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GTG		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		22	169	1	0	1.64293e-13	0.00333	2.62869e-13	22	169				
HDC	3067	broad.mit.edu	37	15	50546735	50546735	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:50546735A>T	ENST00000267845.3	-	5	970	c.568T>A	c.(568-570)Tct>Act	p.S190T	HDC_ENST00000543581.1_Missense_Mutation_p.S190T	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.S190T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACCTGGTCAGAGGCATAGGCC	0.537																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(568-570)TCT>ACT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						85.0	76.0	79.0					15																	50546735		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50546735A>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.568T>A	15.37:g.50546735A>T	ENSP00000267845:p.Ser190Thr					HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.S190T|HDC_uc010bet.1_Missense_Mutation_p.S111T|HDC_uc010beu.1_Missense_Mutation_p.S190T	p.S190T	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	5	674	-		all_lung(180;0.0138)	190						Missense_Mutation	SNP	ENST00000267845.3	37	c.568T>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069008	0.93950	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.56611	0.45;0.45	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.134082	0.52532	D	0.000062	T	0.74997	0.3790	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.999	T	0.79492	-0.1781	10	0.87932	D	0	-25.0117	15.7075	0.77594	1.0:0.0:0.0:0.0	.	190;190	B7ZM01;P19113	.;DCHS_HUMAN	T	190	ENSP00000267845:S190T;ENSP00000440252:S190T	ENSP00000267845:S190T	S	-	1	0	HDC	48334027	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.796000	0.91877	2.117000	0.64856	0.533000	0.62120	TCT		0.537	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			8	70	0	0	0	0.004482	0	8	70				
UNC13C	440279	broad.mit.edu	37	15	54306042	54306042	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:54306042T>A	ENST00000260323.11	+	1	942	c.942T>A	c.(940-942)caT>caA	p.H314Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.H314Q|UNC13C_ENST00000545554.1_Missense_Mutation_p.H314Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	314					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.H314Q(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)		ACTTAGGTCATATGGGTAGCA	0.393																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(940-942)CAT>CAA		unc-13 homolog C							115.0	113.0	114.0					15																	54306042		1881	4108	5989	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306042T>A	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.942T>A	15.37:g.54306042T>A	ENSP00000260323:p.His314Gln						p.H314Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	942	+			314					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.942T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	8.143	0.785568	0.16189	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77489	-1.1;-1.1;-1.1	5.08	-3.38	0.04883	.	.	.	.	.	T	0.48077	0.1480	N	0.04508	-0.205	0.21553	N	0.999643	B	0.12013	0.005	B	0.10450	0.005	T	0.32348	-0.9910	9	0.17369	T	0.5	.	4.4394	0.11566	0.1138:0.4461:0.1164:0.3237	.	314	Q8NB66	UN13C_HUMAN	Q	314	ENSP00000260323:H314Q;ENSP00000438156:H314Q;ENSP00000442569:H314Q	ENSP00000260323:H314Q	H	+	3	2	UNC13C	52093334	0.013000	0.17824	0.160000	0.22671	0.869000	0.49853	-0.780000	0.04654	-0.574000	0.05990	-0.290000	0.09829	CAT		0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		25	110	0	0	0	0.003954	0	25	110				
UNC13C	440279	broad.mit.edu	37	15	54914548	54914548	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:54914548G>T	ENST00000260323.11	+	30	6130	c.6130G>T	c.(6130-6132)Ggt>Tgt	p.G2044C	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2042C|UNC13C_ENST00000545554.1_Missense_Mutation_p.G2044C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2044					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.G2044C(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)		AGATGCCGTGGGTCAGATATC	0.413																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(6130-6132)GGT>TGT		unc-13 homolog C							116.0	118.0	118.0					15																	54914548		1971	4162	6133	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54914548G>T	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.6130G>T	15.37:g.54914548G>T	ENSP00000260323:p.Gly2044Cys					UNC13C_uc002acm.2_5'UTR	p.G2044C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	6130	+			2044					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6130G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349954	0.82132	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83992	-1.79;-1.79;-1.79	4.85	4.85	0.62838	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92329	0.5872	10	0.87932	D	0	.	17.3009	0.87182	0.0:0.0:1.0:0.0	.	2044	Q8NB66	UN13C_HUMAN	C	2044;2044;2042	ENSP00000260323:G2044C;ENSP00000438156:G2044C;ENSP00000442569:G2042C	ENSP00000260323:G2044C	G	+	1	0	UNC13C	52701840	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.712000	0.98738	2.390000	0.81377	0.585000	0.79938	GGT		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	95	1	0	9.70103e-10	0.008291	1.37746e-09	9	95				
PRTG	283659	broad.mit.edu	37	15	56032678	56032678	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:56032678C>A	ENST00000561292.1	-	2	457	c.299G>T	c.(298-300)gGc>gTc	p.G100V	PRTG_ENST00000389286.4_Missense_Mutation_p.G100V					protogenin									p.G100V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCTCGCCTGCCTTCCACCTC	0.413																																							uc002adg.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(298-300)GGC>GTC		protogenin precursor							207.0	198.0	201.0					15																	56032678		1887	4131	6018	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:56032678C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.299G>T	15.37:g.56032678C>A	ENSP00000453335:p.Gly100Val						p.G100V	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	2	347	-			100			Ig-like 1.			Missense_Mutation	SNP	ENST00000561292.1	37	c.299G>T		.	.	.	.	.	.	.	.	.	.	C	19.35	3.811726	0.70797	.	.	ENSG00000166450	ENST00000389286	T	0.75938	-0.98	5.66	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068709	0.56097	U	0.000022	T	0.55847	0.1946	N	0.01473	-0.845	0.80722	D	1	D	0.53312	0.959	P	0.50109	0.631	T	0.60717	-0.7208	10	0.15952	T	0.53	-6.6583	15.6767	0.77332	0.0:0.8626:0.1374:0.0	.	100	Q2VWP7	PRTG_HUMAN	V	100	ENSP00000373937:G100V	ENSP00000373937:G100V	G	-	2	0	PRTG	53819970	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.456000	0.60081	1.367000	0.46095	0.650000	0.86243	GGC		0.413	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		63	259	1	0	9.5628e-27	0.00361	1.81306e-26	63	259				
ALDH1A2	8854	broad.mit.edu	37	15	58257929	58257929	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:58257929C>A	ENST00000249750.4	-	8	1662	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A203S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A261S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A270S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A278S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	299					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.A299S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TTACAGTCAGCATCAGCAAAA	0.408																																							uc002aex.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(895-897)GCT>TCT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						117.0	117.0	117.0					15																	58257929		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58257929C>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.895G>T	15.37:g.58257929C>A	ENSP00000249750:p.Ala299Ser					ALDH1A2_uc002aey.2_Missense_Mutation_p.A261S|ALDH1A2_uc010ugv.1_Missense_Mutation_p.A278S|ALDH1A2_uc010ugw.1_Missense_Mutation_p.A270S|ALDH1A2_uc002aew.2_Missense_Mutation_p.A203S	p.A299S	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	8	953	-			299					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.895G>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088332	0.76756	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.26373	1.74;1.74;1.74	5.52	5.52	0.82312	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.90977	3.165	0.80722	D	1	B;B;P;B	0.42941	0.282;0.239;0.794;0.286	P;B;B;P	0.48454	0.46;0.33;0.444;0.578	T	0.62459	-0.6850	10	0.72032	D	0.01	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	270;278;261;299	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	299;203;270;261;278	ENSP00000249750:A299S;ENSP00000309623:A261S;ENSP00000438296:A278S	ENSP00000249750:A299S	A	-	1	0	ALDH1A2	56045221	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.666000	0.68059	2.752000	0.94435	0.655000	0.94253	GCT		0.408	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			11	110	1	0	1.08611e-07	0.000978	1.42024e-07	11	110				
MYO1E	4643	broad.mit.edu	37	15	59494607	59494607	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:59494607C>A	ENST00000288235.4	-	16	2016		c.e16-1			NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TATGAAAGGCCTGGAAAAGGA	0.463																																							uc002aga.2		NA																	1	Unknown(1)		lung(1)	central_nervous_system(3)	3						c.e16-1		myosin IE							57.0	61.0	60.0					15																	59494607		2191	4290	6481	SO:0001630	splice_region_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59494607C>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1617-1G>T	15.37:g.59494607C>A							p.L539_splice	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	16	1989	-								Q14778	Splice_Site	SNP	ENST00000288235.4	37	c.1617_splice	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392955	0.83011	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.535	0.91008	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1E	57281899	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.564000	0.82326	2.627000	0.88993	0.655000	0.94253	.		0.463	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	Intron	11	100	1	0	0.000978159	0.000978	0.00106767	11	100				
VPS13C	54832	broad.mit.edu	37	15	62168014	62168014	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:62168014C>A	ENST00000261517.5	-	76	10328	c.10255G>T	c.(10255-10257)Ggg>Tgg	p.G3419W	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3376W|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3376W|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3419W	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G3419W(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						ACATCTAACCCCAATACAAGG	0.313																																							uc002agz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(10255-10257)GGG>TGG		vacuolar protein sorting 13C protein isoform 2A							88.0	84.0	86.0					15																	62168014		2203	4297	6500	SO:0001583	missense	54832				protein localization			g.chr15:62168014C>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.10255G>T	15.37:g.62168014C>A	ENSP00000261517:p.Gly3419Trp					VPS13C_uc002aha.2_Missense_Mutation_p.G3376W|VPS13C_uc002ahb.1_Missense_Mutation_p.G3419W|VPS13C_uc002ahc.1_Missense_Mutation_p.G3376W	p.G3419W	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			76	10329	-			3419						Missense_Mutation	SNP	ENST00000261517.5	37	c.10255G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030269	0.75504	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-0.84	4.98	4.98	0.66077	.	0.053580	0.64402	D	0.000001	D	0.91994	0.7464	M	0.91920	3.255	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	D	0.93866	0.7158	10	0.87932	D	0	.	18.2484	0.89995	0.0:1.0:0.0:0.0	.	3376;3419;3376;3419	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	W	3376;3419;3419;3419	ENSP00000249837:G3376W;ENSP00000261517:G3419W;ENSP00000379233:G3419W;ENSP00000379235:G3419W	ENSP00000249837:G3376W	G	-	1	0	VPS13C	59955306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.741000	0.68638	2.311000	0.77944	0.467000	0.42956	GGG		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	41	1	0	0.00116845	0.001168	0.00126555	6	41				
VPS13C	54832	broad.mit.edu	37	15	62320619	62320620	+	Splice_Site	DNP	CC	CC	AA	rs200758205		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:62320619_62320620CC>AA	ENST00000261517.5	-	6	459	c.386_386GG>TT	c.(385-387)gGGg>gTTgg	p.G129V	VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Splice_Site_p.G129V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.?(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						TGAATGTGTGCCTGCATCCCAC	0.337																																							uc002agz.2		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e6-1		vacuolar protein sorting 13C protein isoform 2A																																				SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62320619_62320620CC>AA	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.386_386delinsAA	15.37:g.62320619_62320620delinsAA						VPS13C_uc002aha.2_Intron|VPS13C_uc002ahb.1_Splice_Site_p.G129_splice|VPS13C_uc002ahc.1_Intron	p.G129_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			6	460	-									Splice_Site	DNP	ENST00000261517.5	37	c.386_splice	CCDS32257.1																																																																																				0.337	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Missense_Mutation	9	59	0	0	0	0.004672	0	9	59				
RBPMS2	348093	broad.mit.edu	37	15	65041694	65041694	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65041694T>A	ENST00000300069.4	-	4	472		c.e4-2		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)	p.?(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						ACCAACAGGCTAGTAGGAAAA	0.448																																							uc002anq.2		NA																	1	Unknown(1)		lung(1)		0						c.e4-1		RNA binding protein with multiple splicing 2							143.0	144.0	144.0					15																	65041694		2202	4299	6501	SO:0001630	splice_region_variant	348093						nucleic acid binding|nucleotide binding	g.chr15:65041694T>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.205-2A>T	15.37:g.65041694T>A							p.P69_splice	NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN			4	457	-								A2RRG0	Splice_Site	SNP	ENST00000300069.4	37	c.205_splice	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.960455	0.74016	.	.	ENSG00000166831	ENST00000300069	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0533	0.64751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBPMS2	62828747	1.000000	0.71417	0.978000	0.43139	0.808000	0.45660	3.367000	0.52350	2.068000	0.61886	0.379000	0.24179	.		0.448	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		Intron	18	121	0	0	0	0.006122	0	18	121				
RASL12	51285	broad.mit.edu	37	15	65351719	65351719	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65351719C>T	ENST00000220062.4	-	3	474	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RASL12_ENST00000434605.2_Silent_p.Q55Q|RASL12_ENST00000421977.3_Silent_p.Q47Q	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	66					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.Q55Q(1)|p.Q66Q(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGTGGACAGGCTGGTGGTCCA	0.537																																							uc002aoi.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(196-198)CAG>CAA		RAS-like, family 12 protein							185.0	141.0	156.0					15																	65351719		2202	4299	6501	SO:0001819	synonymous_variant	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65351719C>T	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.198G>A	15.37:g.65351719C>T						RASL12_uc002aoj.1_Silent_p.Q47Q|RASL12_uc010uir.1_Silent_p.Q55Q	p.Q66Q	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			3	413	-			66					B2RC29|B4DJW2|B4DU82	Silent	SNP	ENST00000220062.4	37	c.198G>A	CCDS10200.1																																																																																				0.537	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		7	66	0	0	0	0.00308	0	7	66				
ITGA11	22801	broad.mit.edu	37	15	68643001	68643001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:68643001C>G	ENST00000315757.7	-	9	1100	c.1014G>C	c.(1012-1014)ttG>ttC	p.L338F	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Missense_Mutation_p.L338F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	338	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.L338F(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						CAATGTCCTTCAAGGCAGCCT	0.483																																							uc002ari.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(1012-1014)TTG>TTC		integrin, alpha 11 precursor	Tirofiban(DB00775)						116.0	116.0	116.0					15																	68643001		1965	4177	6142	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643001C>G	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.1014G>C	15.37:g.68643001C>G	ENSP00000327290:p.Leu338Phe					ITGA11_uc010bib.2_Missense_Mutation_p.L338F	p.L338F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			9	1101	-			338			VWFA.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.1014G>C	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043029	0.75732	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.63255	-0.03;-0.03	5.19	5.19	0.71726	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000002	T	0.77579	0.4151	M	0.70595	2.14	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80115	-0.1517	10	0.87932	D	0	.	14.1481	0.65362	0.0:0.8379:0.1621:0.0	.	338;338	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	338	ENSP00000327290:L338F;ENSP00000403392:L338F	ENSP00000327290:L338F	L	-	3	2	ITGA11	66430055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.211000	0.32382	2.403000	0.81681	0.549000	0.68633	TTG		0.483	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	90	0	0	0	0.001855	0	10	90				
MYO9A	4649	broad.mit.edu	37	15	72186037	72186037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:72186037C>A	ENST00000356056.5	-	26	5597	c.5125G>T	c.(5125-5127)Ggg>Tgg	p.G1709W	MYO9A_ENST00000444904.1_Missense_Mutation_p.G1690W|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1709W|MYO9A_ENST00000564571.1_Missense_Mutation_p.G1709W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1709	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.G1709W(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						TGGCCTGGCCCAGCTAACTTC	0.338																																							uc002atl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5125-5127)GGG>TGG		myosin IXA							112.0	107.0	109.0					15																	72186037		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.chr15:72186037C>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.5125G>T	15.37:g.72186037C>A	ENSP00000348349:p.Gly1709Trp					MYO9A_uc002atn.1_Missense_Mutation_p.G1690W|MYO9A_uc002atk.2_Missense_Mutation_p.G433W|MYO9A_uc002atm.1_Missense_Mutation_p.G433W	p.G1709W	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			26	5598	-			1709			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5125G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543837	0.65198	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.86497	-1.98;-2.13;-1.98	5.62	5.62	0.85841	.	.	.	.	.	D	0.90075	0.6900	L	0.34521	1.04	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	D;D	0.97110	0.935;1.0	D	0.89078	0.3474	9	0.37606	T	0.19	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	1709;1709	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	W	1709;1709;1690	ENSP00000348349:G1709W;ENSP00000399162:G1709W;ENSP00000398250:G1690W	ENSP00000348349:G1709W	G	-	1	0	MYO9A	69973091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.616000	0.61197	2.631000	0.89168	0.650000	0.86243	GGG		0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		5	53	1	0	8.12818e-05	0.001984	9.2732e-05	5	53				
LMAN1L	79748	broad.mit.edu	37	15	75116016	75116016	+	Missense_Mutation	SNP	G	G	A	rs567781867		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:75116016G>A	ENST00000309664.5	+	12	1455	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G427D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	439						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G439D(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCTTCGGGGCCCGGCGGTG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17845	0.0		0.0	False		,,,				2504	0.0						uc002ayt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)GGC>GAC		lectin, mannose-binding, 1 like precursor							42.0	44.0	43.0					15																	75116016		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116016G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1316G>A	15.37:g.75116016G>A	ENSP00000310431:p.Gly439Asp					LMAN1L_uc010bke.1_Missense_Mutation_p.G427D|CPLX3_uc002ayu.1_5'Flank	p.G439D	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			12	1318	+			439			Lumenal (Potential).		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1316G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	8.772	0.926259	0.18056	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.38722	1.2;1.12	4.29	-6.65	0.01795	.	1.665480	0.03313	N	0.190774	T	0.25865	0.0630	L	0.35854	1.095	0.09310	N	1	B;B	0.28552	0.215;0.053	B;B	0.29663	0.105;0.028	T	0.12993	-1.0526	10	0.12766	T	0.61	.	3.883	0.09086	0.5696:0.118:0.1929:0.1196	.	427;439	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	D	439;427	ENSP00000310431:G439D;ENSP00000369031:G427D	ENSP00000310431:G439D	G	+	2	0	LMAN1L	72903069	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.257000	0.08745	-1.496000	0.01828	-0.226000	0.12346	GGC		0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			15	112	0	0	0	0.004007	0	15	112				
NRG4	145957	broad.mit.edu	37	15	76254245	76254245	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:76254245T>C	ENST00000394907.3	-	4	356	c.175A>G	c.(175-177)Agt>Ggt	p.S59G	NRG4_ENST00000535975.1_Missense_Mutation_p.S59G	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	59					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S59G(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AACAGGTTACTTTTAGTTTGG	0.388																																							uc002bbo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)AGT>GGT		neuregulin 4							105.0	110.0	108.0					15																	76254245		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76254245T>C	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.175A>G	15.37:g.76254245T>C	ENSP00000378367:p.Ser59Gly					NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	p.S59G	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			4	359	-			59			Extracellular (Potential).		A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.175A>G	CCDS10288.1	.	.	.	.	.	.	.	.	.	.	T	8.829	0.939441	0.18281	.	.	ENSG00000169752	ENST00000394907;ENST00000535975	T;T	0.19105	2.17;2.21	5.02	3.91	0.45181	.	0.204155	0.23116	U	0.051741	T	0.12347	0.0300	N	0.25245	0.725	0.32614	N	0.524307	B	0.06786	0.001	B	0.08055	0.003	T	0.13548	-1.0505	10	0.27785	T	0.31	-7.9444	6.5474	0.22414	0.0:0.1912:0.0:0.8088	.	59	Q8WWG1	NRG4_HUMAN	G	59	ENSP00000378367:S59G;ENSP00000441129:S59G	ENSP00000378367:S59G	S	-	1	0	NRG4	74041300	0.984000	0.35163	0.395000	0.26283	0.790000	0.44656	1.795000	0.38784	0.758000	0.33059	0.455000	0.32223	AGT		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573		14	90	0	0	0	0.00499	0	14	90				
LINGO1	84894	broad.mit.edu	37	15	77907381	77907381	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:77907381G>T	ENST00000355300.6	-	2	1042	c.868C>A	c.(868-870)Cgc>Agc	p.R290S	LINGO1_ENST00000561030.1_Missense_Mutation_p.R284S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	290					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R284C(1)|p.R284S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGAGGAAGCGGAGATAGACT	0.607																																							uc002bct.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(868-870)CGC>AGC		leucine-rich repeat neuronal 6A							97.0	96.0	96.0					15																	77907381		2183	4278	6461	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907381G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.868C>A	15.37:g.77907381G>T	ENSP00000347451:p.Arg290Ser					LINGO1_uc002bcu.1_Missense_Mutation_p.R284S	p.R290S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	920	-			290			Extracellular (Potential).|LRR 9.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.868C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420411	0.42918	.	.	ENSG00000169783	ENST00000355300	T	0.80480	-1.38	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	M	0.79475	2.455	0.80722	D	1	P	0.50943	0.94	P	0.44623	0.455	T	0.82090	-0.0629	10	0.33141	T	0.24	.	14.7397	0.69445	0.0:0.0:0.8547:0.1453	.	290	Q96FE5	LIGO1_HUMAN	S	290	ENSP00000347451:R290S	ENSP00000347451:R290S	R	-	1	0	LINGO1	75694436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.357000	0.59436	2.513000	0.84729	0.462000	0.41574	CGC		0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		8	63	1	0	0.000274275	0.004482	0.000306341	8	63				
WDR61	80349	broad.mit.edu	37	15	78584957	78584957	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:78584957C>A	ENST00000267973.2	-	5	591		c.e5+1		WDR61_ENST00000558459.1_Intron|RP11-762H8.1_ENST00000560057.1_RNA|WDR61_ENST00000558311.1_Splice_Site			Q9GZS3	WDR61_HUMAN	WD repeat domain 61						histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AAAACTCTTACCAGGTCCTGC	0.398																																							uc002bdn.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5+1		WD repeat domain 61							80.0	75.0	76.0					15																	78584957		2196	4293	6489	SO:0001630	splice_region_variant	80349						protein binding	g.chr15:78584957C>A		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.319+1G>T	15.37:g.78584957C>A						WDR61_uc002bdo.2_Splice_Site_p.V107_splice|WDR61_uc010umz.1_RNA|WDR61_uc010una.1_Missense_Mutation_p.G107V	p.V107_splice	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN			5	395	-								D3DW84|Q6IA22|Q7Z4X4	Splice_Site	SNP	ENST00000267973.2	37	c.319_splice	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628332	0.87560	.	.	ENSG00000140395	ENST00000267973	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR61	76372012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.614000	0.82996	2.808000	0.96608	0.655000	0.94253	.		0.398	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	Intron	7	50	1	0	2.0095e-06	0.001984	2.47478e-06	7	50				
IREB2	3658	broad.mit.edu	37	15	78764260	78764260	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:78764260G>T	ENST00000258886.8	+	7	1026	c.877G>T	c.(877-879)Ggg>Tgg	p.G293W	IREB2_ENST00000560440.1_Missense_Mutation_p.G293W	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	293					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.G293W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGGGATTCTGGGGTGGGGTAA	0.373																																					NSCLC(200;764 2208 35157 49871 50830)	NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(877-879)GGG>TGG		iron-responsive element binding protein 2							50.0	52.0	52.0					15																	78764260		2196	4292	6488	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78764260G>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.877G>T	15.37:g.78764260G>T	ENSP00000258886:p.Gly293Trp					IREB2_uc010unb.1_Missense_Mutation_p.G43W|IREB2_uc002bdq.2_Missense_Mutation_p.G293W	p.G293W	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	7	1039	+			293					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.877G>T	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955494	0.92726	.	.	ENSG00000136381	ENST00000258886	T	0.24350	1.86	5.59	5.59	0.84812	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82474	-0.0439	10	0.87932	D	0	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	293;293	P48200;Q8WVK6	IREB2_HUMAN;.	W	293	ENSP00000258886:G293W	ENSP00000258886:G293W	G	+	1	0	IREB2	76551315	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.538000	0.82048	2.788000	0.95919	0.585000	0.79938	GGG		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		5	66	1	0	0.00116845	0.001168	0.00126555	5	66				
BNC1	646	broad.mit.edu	37	15	83931751	83931751	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:83931751G>T	ENST00000345382.2	-	4	2337	c.2252C>A	c.(2251-2253)aCa>aAa	p.T751K	BNC1_ENST00000569704.1_Missense_Mutation_p.T744K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	751					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T751K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCCCTCCACTGTGCATGTGTG	0.433																																							uc002bjt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2251-2253)ACA>AAA		basonuclin 1							110.0	97.0	101.0					15																	83931751		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83931751G>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2252C>A	15.37:g.83931751G>T	ENSP00000307041:p.Thr751Lys					BNC1_uc010uos.1_Missense_Mutation_p.T739K	p.T751K	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	2340	-			751			C2H2-type 4.		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2252C>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603457	0.66445	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.59906	0.23	5.55	3.69	0.42338	Zinc finger, C2H2-like (1);	0.110458	0.64402	D	0.000008	T	0.65375	0.2685	L	0.53729	1.69	0.50313	D	0.999865	P;P	0.51147	0.928;0.942	P;P	0.57057	0.603;0.812	T	0.66551	-0.5895	10	0.72032	D	0.01	-9.0971	11.6853	0.51483	0.1417:0.0:0.8583:0.0	.	744;751	F5GY04;Q01954	.;BNC1_HUMAN	K	751;744	ENSP00000307041:T751K	ENSP00000307041:T751K	T	-	2	0	BNC1	81722755	1.000000	0.71417	0.780000	0.31762	0.573000	0.36030	7.946000	0.87746	0.710000	0.31997	0.655000	0.94253	ACA		0.433	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		6	73	1	0	5.9392e-07	0.001168	7.50215e-07	6	73				
AGBL1	123624	broad.mit.edu	37	15	86940755	86940755	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:86940755C>T	ENST00000441037.2	+	17	2490	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	AGBL1_ENST00000389298.3_Missense_Mutation_p.P530S|AGBL1_ENST00000421325.2_Missense_Mutation_p.P799S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	799					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P799S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATGCTCAACCCAGATGGTGT	0.502																																							uc002blz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2395-2397)CCA>TCA		ATP/GTP binding protein-like 1							169.0	163.0	165.0					15																	86940755		2061	4190	6251	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940755C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2395C>T	15.37:g.86940755C>T	ENSP00000413001:p.Pro799Ser						p.P799S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			17	2475	+			799					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2395C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118977	0.77323	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.25912	1.77;1.77	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000001	T	0.67050	0.2852	H	0.96633	3.855	0.45962	D	0.998783	D	0.89917	1.0	D	0.79108	0.992	T	0.78625	-0.2131	10	0.72032	D	0.01	-11.2038	18.7311	0.91735	0.0:1.0:0.0:0.0	.	799	Q96MI9	CBPC4_HUMAN	S	828;799;530	ENSP00000397173:P799S;ENSP00000373949:P530S	ENSP00000373949:P530S	P	+	1	0	AGBL1	84741759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.868000	0.69605	2.733000	0.93635	0.655000	0.94253	CCA		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		5	87	0	0	0	0.001168	0	5	87				
AGBL1	123624	broad.mit.edu	37	15	87531247	87531247	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:87531247A>T	ENST00000441037.2	+	23	3208	c.3113A>T	c.(3112-3114)cAt>cTt	p.H1038L	AGBL1_ENST00000389298.3_Missense_Mutation_p.H769L|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H1038L(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ctgccaaagcatatttggttt	0.343																																							uc002blz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3112-3114)CAT>CTT		ATP/GTP binding protein-like 1							245.0	235.0	238.0					15																	87531247		1850	4082	5932	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531247A>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3113A>T	15.37:g.87531247A>T	ENSP00000413001:p.His1038Leu						p.H1038L	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			23	3193	+			1038					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3113A>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.645058	0.00792	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.09817	2.96;2.94	1.47	-2.94	0.05581	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31724	-0.9933	9	0.46703	T	0.11	.	1.8119	0.03092	0.2114:0.1762:0.4374:0.175	.	1038	Q96MI9	CBPC4_HUMAN	L	1038;769	ENSP00000397173:H1038L;ENSP00000373949:H769L	ENSP00000373949:H769L	H	+	2	0	AGBL1	85332251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.592000	0.02098	-2.965000	0.00288	-2.872000	0.00099	CAT		0.343	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		18	187	0	0	0	0.008871	0	18	187				
ANPEP	290	broad.mit.edu	37	15	90347593	90347593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:90347593C>T	ENST00000300060.6	-	6	1383	c.1070G>A	c.(1069-1071)tGg>tAg	p.W357*	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	357	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.W357*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CACCAGTCCCCAGTTCTCCAT	0.612																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1069-1071)TGG>TAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						56.0	58.0	57.0					15																	90347593		2200	4299	6499	SO:0001587	stop_gained	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347593C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1070G>A	15.37:g.90347593C>T	ENSP00000300060:p.Trp357*						p.W357*	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		6	1362	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		357			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Nonsense_Mutation	SNP	ENST00000300060.6	37	c.1070G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	40	8.158651	0.98683	.	.	ENSG00000166825	ENST00000300060	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9628	0.71169	0.0:1.0:0.0:0.0	.	.	.	.	X	357	.	ENSP00000300060:W357X	W	-	2	0	ANPEP	88148597	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.772000	0.85439	2.126000	0.65437	0.313000	0.20887	TGG		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			10	73	0	0	0	0.006214	0	10	73				
ANPEP	290	broad.mit.edu	37	15	90349243	90349243	+	Missense_Mutation	SNP	G	G	A	rs148796695		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:90349243G>A	ENST00000300060.6	-	2	885	c.572C>T	c.(571-573)gCg>gTg	p.A191V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	191	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.A191V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GTAGAAGCCCGCCAGGTCATC	0.622																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(571-573)GCG>GTG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)	G	VAL/ALA	0,4400		0,0,2200	86.0	81.0	82.0		572	3.9	0.8	15	dbSNP_134	82	1,8597	1.2+/-3.3	0,1,4298	no	missense	ANPEP	NM_001150.2	64	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	191/968	90349243	1,12997	2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349243G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.572C>T	15.37:g.90349243G>A	ENSP00000300060:p.Ala191Val						p.A191V	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	864	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		191			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.572C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309460	0.23821	0.0	1.16E-4	ENSG00000166825	ENST00000300060	T	0.02763	4.17	4.8	3.89	0.44902	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.050320	0.85682	D	0.000000	T	0.02970	0.0088	L	0.37800	1.135	0.27970	N	0.936449	B	0.25312	0.123	B	0.26969	0.075	T	0.38200	-0.9672	10	0.12766	T	0.61	.	12.3298	0.55033	0.0:0.0:0.8294:0.1706	.	191	P15144	AMPN_HUMAN	V	191	ENSP00000300060:A191V	ENSP00000300060:A191V	A	-	2	0	ANPEP	88150247	0.983000	0.35010	0.779000	0.31741	0.178000	0.23041	1.826000	0.39092	1.027000	0.39758	-0.217000	0.12591	GCG		0.622	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			21	108	0	0	0	0.003954	0	21	108				
FURIN	5045	broad.mit.edu	37	15	91423004	91423004	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:91423004G>T	ENST00000268171.3	+	11	1537	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	420	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V420L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGCCGGAAAGGTGAGGGCAG	0.617																																							uc002bpu.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(1258-1260)GTG>TTG		furin preproprotein							59.0	56.0	57.0					15																	91423004		2198	4298	6496	SO:0001630	splice_region_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91423004G>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1258+1G>T	15.37:g.91423004G>T							p.V420L	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		11	1474	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		420					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1258G>T	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853956	0.91355	.	.	ENSG00000140564	ENST00000268171;ENST00000535252	D	0.87029	-2.2	4.74	4.74	0.60224	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.69824	0.966	D	0.95629	0.8688	10	0.87932	D	0	-23.542	17.9776	0.89132	0.0:0.0:1.0:0.0	.	420	P09958	FURIN_HUMAN	L	420;19	ENSP00000268171:V420L	ENSP00000268171:V420L	V	+	1	0	FURIN	89224008	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.961000	0.93122	2.458000	0.83093	0.555000	0.69702	GTG		0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	Missense_Mutation	17	108	1	0	3.83957e-06	0.00278	4.66437e-06	17	108				
ST8SIA2	8128	broad.mit.edu	37	15	92981651	92981651	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:92981651G>C	ENST00000268164.3	+	4	596	c.359G>C	c.(358-360)gGa>gCa	p.G120A	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G99A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	120					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.G120A(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGAAGCCTGGAGATATTATT	0.448																																							uc002bra.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GGA>GCA		ST8 alpha-N-acetyl-neuraminide							154.0	166.0	162.0					15																	92981651		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981651G>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.359G>C	15.37:g.92981651G>C	ENSP00000268164:p.Gly120Ala					ST8SIA2_uc002brb.2_Missense_Mutation_p.G99A	p.G120A	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	514	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		120			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.359G>C	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731040	0.89390	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.29917	1.55;1.55;1.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78671	-0.2113	10	0.87932	D	0	-4.1834	19.2257	0.93817	0.0:0.0:1.0:0.0	.	99;120	C6G488;Q92186	.;SIA8B_HUMAN	A	120;99;77	ENSP00000268164:G120A;ENSP00000437382:G99A;ENSP00000450851:G77A	ENSP00000268164:G120A	G	+	2	0	ST8SIA2	90782655	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.182000	0.94881	2.541000	0.85698	0.655000	0.94253	GGA		0.448	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		48	314	0	0	0	0.00361	0	48	314				
OR4F15	390649	broad.mit.edu	37	15	102358680	102358680	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:102358680T>A	ENST00000332238.4	+	1	315	c.291T>A	c.(289-291)tgT>tgA	p.C97*		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTCGGGGATGTATTACTCAGA	0.443																																							uc010uts.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(289-291)TGT>TGA		olfactory receptor, family 4, subfamily F,							142.0	129.0	133.0					15																	102358680		2203	4300	6503	SO:0001587	stop_gained	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358680T>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.291T>A	15.37:g.102358680T>A	ENSP00000333184:p.Cys97*						p.C97*	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	291	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		97			Extracellular (Potential).		B2RNQ5|Q6IF57|Q96R70	Nonsense_Mutation	SNP	ENST00000332238.4	37	c.291T>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355620	0.82243	.	.	ENSG00000182854	ENST00000332238	.	.	.	5.57	1.64	0.23874	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9699	0.30122	0.0:0.2878:0.0:0.7122	.	.	.	.	X	97	.	.	C	+	3	2	OR4F15	100176203	0.000000	0.05858	0.099000	0.21106	0.851000	0.48451	-0.338000	0.07842	0.113000	0.18004	0.528000	0.53228	TGT		0.443	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		22	103	0	0	0	0.010504	0	22	103				
RAB11FIP3	9727	broad.mit.edu	37	16	511444	511444	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:511444G>T	ENST00000262305.4	+	2	1143	c.755G>T	c.(754-756)gGc>gTc	p.G252V	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G252V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	252	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.G252V(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGTGGGCTCGGCGTGATCAGC	0.532																																					Melanoma(160;2366 2595 4474 8099)	Melanoma(160;2366 2595 4474 8099)	uc002chf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(754-756)GGC>GTC		rab11-family interacting protein 3 isoform 1							157.0	144.0	148.0					16																	511444		2202	4300	6502	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:511444G>T	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.755G>T	16.37:g.511444G>T	ENSP00000262305:p.Gly252Val						p.G252V	NM_014700	NP_055515	O75154	RFIP3_HUMAN			2	1094	+		Hepatocellular(16;0.0218)	252			EF-hand 2.|2 (Potential).		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.755G>T	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593244	0.86953	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	D;D;D	0.84070	-1.8;-1.8;-1.8	5.41	5.41	0.78517	EF-hand-like domain (1);	.	.	.	.	D	0.94827	0.8329	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96533	0.9394	9	0.87932	D	0	-35.403	14.6968	0.69129	0.0:0.0:1.0:0.0	.	252	O75154	RFIP3_HUMAN	V	252;252;128	ENSP00000262305:G252V;ENSP00000398730:G252V;ENSP00000399644:G128V	ENSP00000262305:G252V	G	+	2	0	RAB11FIP3	451445	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	8.162000	0.89657	2.546000	0.85860	0.557000	0.71058	GGC		0.532	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		14	197	1	0	4.14922e-12	0.004007	6.38441e-12	14	197				
HN1L	90861	broad.mit.edu	37	16	1748976	1748976	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:1748976A>T	ENST00000248098.3	+	5	607	c.550A>T	c.(550-552)Aaa>Taa	p.K184*	HN1L_ENST00000562684.1_Nonsense_Mutation_p.K212*|HN1L_ENST00000382710.4_Nonsense_Mutation_p.K172*|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382711.5_Nonsense_Mutation_p.K168*|HN1L_ENST00000569765.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K184*(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ACCGGGAGGCAAATCCAGCAT	0.592																																							uc002cmg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(550-552)AAA>TAA		hematological and neurological expressed 1-like							46.0	57.0	53.0					16																	1748976		2198	4299	6497	SO:0001587	stop_gained	90861					cytoplasm|nucleus		g.chr16:1748976A>T	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.550A>T	16.37:g.1748976A>T	ENSP00000248098:p.Lys184*					HN1L_uc010uvi.1_Nonsense_Mutation_p.K212*|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_3'UTR|HN1L_uc010uvj.1_3'UTR|HN1L_uc010uvk.1_Nonsense_Mutation_p.K171*	p.K184*	NM_144570	NP_653171	Q9H910	HN1L_HUMAN			5	586	+			184					B1AJY2|Q6EIC7	Nonsense_Mutation	SNP	ENST00000248098.3	37	c.550A>T	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282422	0.80692	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	.	.	.	6.17	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8484	10.8961	0.47023	0.9286:0.0:0.0714:0.0	.	.	.	.	X	184;212;172	.	ENSP00000248098:K184X	K	+	1	0	HN1L	1688977	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.976000	0.88070	1.144000	0.42321	0.533000	0.62120	AAA		0.592	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		37	120	0	0	0	0.007835	0	37	120				
PKD1	5310	broad.mit.edu	37	16	2168792	2168792	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2168792T>A	ENST00000262304.4	-	4	622	c.414A>T	c.(412-414)cgA>cgT	p.R138R	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.R138R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	138	LRRCT.			R -> Q (in Ref. 1; AAC50128). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R138R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCCGCCCATCGCGGCAGCC	0.687																																							uc002cos.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(412-414)CGA>CGT		polycystin 1 isoform 1 precursor							7.0	5.0	6.0					16																	2168792		1255	2673	3928	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168792T>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.414A>T	16.37:g.2168792T>A						PKD1_uc002cot.1_Silent_p.R138R	p.R138R	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			4	623	-			138	R -> Q (in Ref. 1; AAC50128).		Extracellular (Potential).|LRRCT.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.414A>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	11	0	0	0	0.001168	0	5	11				
SRRM2	23524	broad.mit.edu	37	16	2812973	2812973	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2812973G>T	ENST00000301740.8	+	11	2993	c.2444G>T	c.(2443-2445)aGt>aTt	p.S815I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	815	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCAGACGCAGTCGCTCCAGT	0.488																																							uc002crk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2443-2445)AGT>ATT		splicing coactivator subunit SRm300							220.0	221.0	220.0					16																	2812973		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812973G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2444G>T	16.37:g.2812973G>T	ENSP00000301740:p.Ser815Ile					SRRM2_uc002crj.1_Missense_Mutation_p.S719I|SRRM2_uc002crl.1_Missense_Mutation_p.S815I|SRRM2_uc010bsu.1_Missense_Mutation_p.S719I	p.S815I	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2993	+			815			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2444G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	8.193	0.796446	0.16327	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.38401	1.14	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.27053	0.805	0.36830	D	0.886867	D	0.71674	0.998	D	0.78314	0.991	T	0.55335	-0.8157	10	0.54805	T	0.06	-10.4303	16.5785	0.84707	0.0:0.0:1.0:0.0	.	815	Q9UQ35	SRRM2_HUMAN	I	815;815;67;780	ENSP00000301740:S815I	ENSP00000301740:S815I	S	+	2	0	SRRM2	2752974	0.991000	0.36638	0.844000	0.33320	0.130000	0.20726	3.912000	0.56386	2.512000	0.84698	0.655000	0.94253	AGT		0.488	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			27	543	1	0	6.32553e-13	0.004656	1.00311e-12	27	543				
PPL	5493	broad.mit.edu	37	16	4933740	4933740	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:4933740C>T	ENST00000345988.2	-	22	5005	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PPL_ENST00000590782.2_Missense_Mutation_p.R1637H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1639					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R1639H(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGAGCCCAGGCGCTTCTGCAG	0.632																																							uc002cyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4915-4917)CGC>CAC		periplakin							52.0	49.0	50.0					16																	4933740		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933740C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4916G>A	16.37:g.4933740C>T	ENSP00000340510:p.Arg1639His						p.R1639H	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	5006	-			1639			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4916G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831743	0.50845	.	.	ENSG00000118898	ENST00000345988	T	0.52754	0.65	5.58	5.58	0.84498	.	0.121434	0.56097	D	0.000029	T	0.65974	0.2743	L	0.50333	1.59	0.47737	D	0.999505	D	0.89917	1.0	D	0.87578	0.998	T	0.66488	-0.5911	10	0.66056	D	0.02	.	19.5597	0.95367	0.0:1.0:0.0:0.0	.	1639	O60437	PEPL_HUMAN	H	1639	ENSP00000340510:R1639H	ENSP00000340510:R1639H	R	-	2	0	PPL	4873741	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	3.823000	0.55715	2.641000	0.89580	0.561000	0.74099	CGC		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		9	62	0	0	0	0.008291	0	9	62				
USP7	7874	broad.mit.edu	37	16	9004656	9004656	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9004656T>A	ENST00000344836.4	-	11	1305	c.1107A>T	c.(1105-1107)gcA>gcT	p.A369A	USP7_ENST00000535863.1_Silent_p.A270A|USP7_ENST00000381886.4_Silent_p.A353A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	369	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A369A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTGTTCTACTGCCACATAAT	0.393																																							uc002czl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1105-1107)GCA>GCT		ubiquitin specific peptidase 7							144.0	120.0	128.0					16																	9004656		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9004656T>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1107A>T	16.37:g.9004656T>A						USP7_uc010uyk.1_Silent_p.A270A|USP7_uc010uyj.1_Silent_p.A270A|USP7_uc002czk.2_Silent_p.A353A|USP7_uc010uyl.1_RNA	p.A369A	NM_003470	NP_003461	Q93009	UBP7_HUMAN			11	1306	-			369					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.1107A>T	CCDS32385.1																																																																																				0.393	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			25	92	0	0	0	0.008361	0	25	92				
GRIN2A	2903	broad.mit.edu	37	16	9857738	9857738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9857738C>A	ENST00000396573.2	-	14	3972	c.3663G>T	c.(3661-3663)atG>atT	p.M1221I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M1221I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M1064I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M1221I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M1221I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M1221I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1221					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.M1221I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AATAGGTGGGCATGTTGGAAA	0.562																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3661-3663)ATG>ATT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						216.0	213.0	214.0					16																	9857738		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857738C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3663G>T	16.37:g.9857738C>A	ENSP00000379818:p.Met1221Ile					GRIN2A_uc010uym.1_Missense_Mutation_p.M1221I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M1064I|GRIN2A_uc002czr.3_Missense_Mutation_p.M1221I	p.M1221I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4211	-			1221			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3663G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320392	0.41096	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10192	2.91;2.9;2.91;2.91;2.91	5.32	5.32	0.75619	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.208186	0.42420	D	0.000712	T	0.09379	0.0231	N	0.22421	0.69	0.23563	N	0.997406	B;B;B	0.16802	0.003;0.01;0.019	B;B;B	0.16722	0.009;0.016;0.015	T	0.25117	-1.0141	9	.	.	.	.	17.9952	0.89181	0.0:1.0:0.0:0.0	.	1064;1221;1221	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	1221;1221;1064;1221;1221	ENSP00000379818:M1221I;ENSP00000385872:M1221I;ENSP00000441572:M1064I;ENSP00000332549:M1221I;ENSP00000379820:M1221I	.	M	-	3	0	GRIN2A	9765239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.079000	0.41577	2.476000	0.83614	0.655000	0.94253	ATG		0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			18	344	1	0	1.67942e-08	0.006122	2.27623e-08	18	344				
GRIN2A	2903	broad.mit.edu	37	16	9857801	9857801	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9857801G>T	ENST00000396573.2	-	14	3909	c.3600C>A	c.(3598-3600)caC>caA	p.H1200Q	GRIN2A_ENST00000330684.3_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H1043Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H1200Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1200					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.H1200Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGTCTCACTGTGCGGGGAAC	0.537																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3598-3600)CAC>CAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						319.0	307.0	311.0					16																	9857801		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857801G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3600C>A	16.37:g.9857801G>T	ENSP00000379818:p.His1200Gln					GRIN2A_uc010uym.1_Missense_Mutation_p.H1200Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.H1043Q|GRIN2A_uc002czr.3_Missense_Mutation_p.H1200Q	p.H1200Q	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4148	-			1200			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3600C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	1.331	-0.596652	0.03771	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10668	2.85;2.85;2.86;2.85;2.85	5.32	3.32	0.38043	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.644679	0.16081	N	0.230508	T	0.10981	0.0268	L	0.46157	1.445	0.32896	D	0.512471	B;B;B	0.32010	0.244;0.288;0.351	B;B;B	0.40602	0.225;0.334;0.139	T	0.15780	-1.0425	9	.	.	.	.	2.2027	0.03928	0.1694:0.1413:0.5238:0.1655	.	1043;1200;1200	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Q	1200;1200;1043;1200;1200	ENSP00000379818:H1200Q;ENSP00000385872:H1200Q;ENSP00000441572:H1043Q;ENSP00000332549:H1200Q;ENSP00000379820:H1200Q	.	H	-	3	2	GRIN2A	9765302	0.933000	0.31639	0.870000	0.34147	0.260000	0.26232	0.028000	0.13644	1.201000	0.43203	0.655000	0.94253	CAC		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			147	607	1	0	1.73566e-47	0.00361	3.44332e-47	147	607				
ATF7IP2	80063	broad.mit.edu	37	16	10574812	10574812	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:10574812T>C	ENST00000396560.2	+	11	1853	c.1626T>C	c.(1624-1626)aaT>aaC	p.N542N	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.M520T|ATF7IP2_ENST00000543967.1_Silent_p.N86N|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.M520T|ATF7IP2_ENST00000356427.2_Silent_p.N542N	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N542N(1)		large_intestine(3)	3						TGGCACAAAATGCAGTCCAGG	0.413																																							uc002czu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1624-1626)AAT>AAC		activating transcription factor 7 interacting							98.0	99.0	98.0					16																	10574812		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10574812T>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1626T>C	16.37:g.10574812T>C						ATF7IP2_uc002czv.2_Missense_Mutation_p.M520T|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Silent_p.N86N|ATF7IP2_uc002czw.2_Silent_p.N542N|ATF7IP2_uc010uyq.1_RNA	p.N542N	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			11	1853	+			542					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.1626T>C	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	T	0.419	-0.909337	0.02434	.	.	ENSG00000166669	ENST00000396559;ENST00000324570	.	.	.	4.7	2.38	0.29361	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.29822	-0.9999	7	0.87932	D	0	-1.634	4.9265	0.13896	0.0:0.0994:0.1872:0.7134	.	520	Q5U623-2	.	T	520	.	ENSP00000322811:M520T	M	+	2	0	ATF7IP2	10482313	0.996000	0.38824	0.074000	0.20217	0.032000	0.12392	2.066000	0.41452	0.248000	0.21435	0.460000	0.39030	ATG		0.413	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		9	94	0	0	0	0.00632	0	9	94				
NDE1	54820	broad.mit.edu	37	16	15790760	15790760	+	Intron	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:15790760G>T	ENST00000396353.2	+	9	1773				NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1						centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGGAGAACCCGCCTGCCCCAG	0.547																																							uc002ddt.1		NA																	0				ovary(1)	1						c.(988-990)CCG>CCT		nuclear distribution gene E homolog 1							21.0	24.0	23.0					16																	15790760		2194	4292	6486	SO:0001627	intron_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15790760G>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.947+43G>T	16.37:g.15790760G>T						NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	p.P330P	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN			7	1033	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.990G>T																																																																																					0.547	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		12	12	1	0	3.07112e-06	0.000978	3.73776e-06	12	12				
GPR139	124274	broad.mit.edu	37	16	20043324	20043324	+	Silent	SNP	G	G	T	rs373440031		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20043324G>T	ENST00000570682.1	-	2	1095	c.795C>A	c.(793-795)atC>atA	p.I265I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	265					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.I265I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTCGGACATGATGTGTACCA	0.547																																							uc002dgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(793-795)ATC>ATA		G protein-coupled receptor 139							74.0	77.0	76.0					16																	20043324		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043324G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.795C>A	16.37:g.20043324G>T						GPR139_uc010vaw.1_Silent_p.I172I	p.I265I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	957	-			265			Extracellular (Potential).		A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.795C>A	CCDS32398.1																																																																																				0.547	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		38	89	1	0	2.35958e-20	0.009718	4.26024e-20	38	89				
UMOD	7369	broad.mit.edu	37	16	20352561	20352561	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20352561C>T	ENST00000570689.1	-	7	1575	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.V510M|UMOD_ENST00000396142.2_Missense_Mutation_p.V477M|UMOD_ENST00000396138.4_Missense_Mutation_p.V526M|UMOD_ENST00000302509.4_Missense_Mutation_p.V477M|UMOD_ENST00000396134.2_Missense_Mutation_p.V510M			P07911	UROM_HUMAN	uromodulin	477	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.V477M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACAGTGTCACGGAGGAGCCT	0.592																																							uc002dgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1429-1431)GTG>ATG		uromodulin precursor							89.0	70.0	76.0					16																	20352561		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352561C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1429G>A	16.37:g.20352561C>T	ENSP00000460548:p.Val477Met					UMOD_uc002dha.2_Missense_Mutation_p.V477M|UMOD_uc002dhb.2_Missense_Mutation_p.V510M	p.V477M	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1558	-			477			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1429G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237807	0.79800	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.34	5.34	0.76211	Zona pellucida sperm-binding protein (3);	0.000000	0.47093	D	0.000249	D	0.92430	0.7597	M	0.89095	3.005	0.35215	D	0.775479	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.95668	0.8721	10	0.72032	D	0.01	-32.2926	16.9011	0.86114	0.0:1.0:0.0:0.0	.	510;477	E9PEA4;P07911	.;UROM_HUMAN	M	477;510;510;477;455;477	ENSP00000379438:V510M;ENSP00000416346:V510M;ENSP00000306279:V477M;ENSP00000379446:V477M	ENSP00000306279:V477M	V	-	1	0	UMOD	20260062	0.159000	0.22864	0.330000	0.25442	0.956000	0.61745	2.854000	0.48325	2.646000	0.89796	0.655000	0.94253	GTG		0.592	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			21	59	0	0	0	0.002299	0	21	59				
UMOD	7369	broad.mit.edu	37	16	20362003	20362003	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20362003G>A	ENST00000570689.1	-	2	203	c.57C>T	c.(55-57)atC>atT	p.I19I	UMOD_ENST00000424589.1_Silent_p.I19I|UMOD_ENST00000396142.2_Silent_p.I19I|UMOD_ENST00000396138.4_Silent_p.I68I|UMOD_ENST00000302509.4_Silent_p.I19I|UMOD_ENST00000396134.2_Silent_p.I19I			P07911	UROM_HUMAN	uromodulin	19					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.I19I(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGCAGTTGTGATGAACCAAG	0.512																																							uc002dgz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(55-57)ATC>ATT		uromodulin precursor							183.0	135.0	151.0					16																	20362003		2203	4299	6502	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20362003G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.57C>T	16.37:g.20362003G>A						UMOD_uc002dha.2_Silent_p.I19I|UMOD_uc002dhb.2_Silent_p.I19I	p.I19I	NM_003361	NP_003352	P07911	UROM_HUMAN			2	186	-			19					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.57C>T	CCDS10583.1																																																																																				0.512	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			7	11	0	0	0	0.004482	0	7	11				
PDILT	204474	broad.mit.edu	37	16	20386220	20386220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20386220G>T	ENST00000302451.4	-	5	853	c.605C>A	c.(604-606)aCg>aAg	p.T202K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	202					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.T202K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GACTCCAAACGTTAGCTCTGG	0.423																																							uc002dhc.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(604-606)ACG>AAG		protein disulfide isomerase-like, testis							191.0	162.0	172.0					16																	20386220		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386220G>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.605C>A	16.37:g.20386220G>T	ENSP00000305465:p.Thr202Lys						p.T202K	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			5	828	-			202					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.605C>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404084	0.62288	.	.	ENSG00000169340	ENST00000302451	T	0.18502	2.21	4.56	4.56	0.56223	Thioredoxin-like fold (2);	0.276722	0.40554	N	0.001078	T	0.23014	0.0556	M	0.68317	2.08	0.09310	N	1	P	0.49862	0.929	P	0.48189	0.57	T	0.30822	-0.9965	10	0.05833	T	0.94	.	15.2184	0.73288	0.0:0.0:1.0:0.0	.	202	Q8N807	PDILT_HUMAN	K	202	ENSP00000305465:T202K	ENSP00000305465:T202K	T	-	2	0	PDILT	20293721	0.918000	0.31147	0.029000	0.17559	0.105000	0.19272	5.569000	0.67391	2.530000	0.85305	0.655000	0.94253	ACG		0.423	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		12	146	1	0	1.08611e-07	0.000978	1.42024e-07	12	146				
ACSM5	54988	broad.mit.edu	37	16	20448431	20448431	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20448431C>A	ENST00000331849.4	+	11	1513	c.1366C>A	c.(1366-1368)Cga>Aga	p.R456R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R456R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CACAGGGGACCGAGCTCGCAT	0.488																																							uc002dhe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1366-1368)CGA>AGA		acyl-CoA synthetase medium-chain family member 5							167.0	155.0	159.0					16																	20448431		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448431C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1366C>A	16.37:g.20448431C>A							p.R456R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			11	1513	+			456					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1366C>A	CCDS10585.1																																																																																				0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		11	205	1	0	2.27111e-07	0.001368	2.92893e-07	11	205				
ACSM2A	123876	broad.mit.edu	37	16	20471598	20471598	+	Missense_Mutation	SNP	G	G	T	rs147663018		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20471598G>T	ENST00000573854.1	+	2	276	c.162G>T	c.(160-162)tgG>tgT	p.W54C	ACSM2A_ENST00000424070.1_Missense_Mutation_p.W54C|ACSM2A_ENST00000219054.6_Missense_Mutation_p.W54C|ACSM2A_ENST00000575690.1_Missense_Mutation_p.W54C|ACSM2A_ENST00000396104.2_Missense_Mutation_p.W54C|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	54					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.W54C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGATCACTGGGCTGACATGG	0.433																																							uc010bwe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(160-162)TGG>TGT		acyl-CoA synthetase medium-chain family member							68.0	62.0	64.0					16																	20471598		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471598G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.162G>T	16.37:g.20471598G>T	ENSP00000459451:p.Trp54Cys					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.W54C|ACSM2A_uc002dhg.3_Missense_Mutation_p.W54C|ACSM2A_uc010vay.1_Intron	p.W54C	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	401	+			54					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.162G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028004	0.54790	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.49720	0.77;0.77;0.77	3.95	3.95	0.45737	.	0.000000	0.41396	D	0.000891	T	0.66197	0.2765	M	0.72894	2.215	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.71111	-0.4687	10	0.87932	D	0	-9.2553	13.3345	0.60509	0.0:0.0:1.0:0.0	.	54	Q08AH3	ACS2A_HUMAN	C	54	ENSP00000219054:W54C;ENSP00000394904:W54C;ENSP00000379411:W54C	ENSP00000219054:W54C	W	+	3	0	ACSM2A	20379099	1.000000	0.71417	0.938000	0.37757	0.972000	0.66771	5.159000	0.64923	1.915000	0.55452	0.454000	0.30748	TGG		0.433	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		9	41	1	0	7.48243e-07	0.006214	9.3972e-07	9	41				
ACSM2B	348158	broad.mit.edu	37	16	20559428	20559428	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20559428G>T	ENST00000329697.6	-	8	1222	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.Q273K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.Q352K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.Q352K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	352					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.Q352K(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTCCTGTCTGGGCCCTCCAG	0.502																																							uc002dhj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1054-1056)CAG>AAG		acyl-CoA synthetase medium-chain family member							138.0	142.0	141.0					16																	20559428		2201	4300	6501	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.chr16:20559428G>T	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.1054C>A	16.37:g.20559428G>T	ENSP00000327453:p.Gln352Lys					ACSM2B_uc002dhk.3_Missense_Mutation_p.Q352K|ACSM2B_uc010bwf.1_Missense_Mutation_p.Q352K	p.Q352K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			9	1264	-			352					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1054C>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.494741	0.01009	.	.	ENSG00000066813	ENST00000329697	T	0.39056	1.1	3.37	-1.81	0.07882	AMP-dependent synthetase/ligase (1);	0.849218	0.10039	N	0.723761	T	0.22399	0.0540	N	0.13168	0.305	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.23762	-1.0179	10	0.22706	T	0.39	-0.0773	9.0956	0.36636	0.0:0.1276:0.3237:0.5487	.	352;352	A8K051;Q68CK6	.;ACS2B_HUMAN	K	352	ENSP00000327453:Q352K	ENSP00000327453:Q352K	Q	-	1	0	ACSM2B	20466929	0.064000	0.20934	0.000000	0.03702	0.007000	0.05969	1.099000	0.31013	-0.434000	0.07275	-1.296000	0.01341	CAG		0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		98	210	1	0	5.84261e-33	0.00361	1.13732e-32	98	210				
LOC81691	81691	broad.mit.edu	37	16	20833145	20833145	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20833145G>T	ENST00000261377.6	+	6	746	c.537G>T	c.(535-537)aaG>aaT	p.K179N	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.K179N|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K179N	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.K179N(1)									TCATTCAAAAGTATGGCTCTA	0.413																																							uc002dhv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(535-537)AAG>AAT		exonuclease NEF-sp isoform 1							121.0	115.0	117.0					16																	20833145		2201	4300	6501	SO:0001583	missense	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20833145G>T																												ENST00000261377.6:c.537G>T	16.37:g.20833145G>T	ENSP00000261377:p.Lys179Asn					ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.K179N|LOC81691_uc002dhw.2_5'UTR|LOC81691_uc002dhy.3_Missense_Mutation_p.K179N	p.K179N	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			6	800	+			179						Missense_Mutation	SNP	ENST00000261377.6	37	c.537G>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930668	0.73327	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.35605	1.3;1.68	5.27	0.607	0.17564	.	0.108145	0.64402	D	0.000009	T	0.49490	0.1560	M	0.65498	2.005	0.38336	D	0.943947	D;B	0.76494	0.999;0.447	D;B	0.79108	0.992;0.165	T	0.47812	-0.9088	10	0.42905	T	0.14	-18.3424	6.5671	0.22519	0.5784:0.0:0.4216:0.0	.	179;179	Q96IC2-2;Q96IC2	.;REXON_HUMAN	N	179	ENSP00000261378:K179N;ENSP00000261377:K179N	ENSP00000261377:K179N	K	+	3	2	AC004381.6	20740646	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	0.824000	0.27379	0.238000	0.21222	0.561000	0.74099	AAG		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			36	91	1	0	6.97489e-18	0.004878	1.21474e-17	36	91				
DNAH3	55567	broad.mit.edu	37	16	21038383	21038383	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21038383C>T	ENST00000261383.3	-	38	5505	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1836N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1836	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D1836N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCTCGAGGTCGGCGGGCTCG	0.567																																							uc010vbe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5506-5508)GAC>AAC		dynein, axonemal, heavy chain 3							57.0	53.0	55.0					16																	21038383		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21038383C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5506G>A	16.37:g.21038383C>T	ENSP00000261383:p.Asp1836Asn						p.D1836N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	38	5506	-			1836			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5506G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081663	0.76528	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	D;D	0.90069	-2.61;-2.61	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.93795	0.8016	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92943	0.6374	10	0.35671	T	0.21	.	18.1477	0.89663	0.0:1.0:0.0:0.0	.	1836	Q8TD57	DYH3_HUMAN	N	1836	ENSP00000261383:D1836N;ENSP00000394245:D1836N	ENSP00000261383:D1836N	D	-	1	0	DNAH3	20945884	1.000000	0.71417	0.765000	0.31456	0.105000	0.19272	7.663000	0.83820	2.273000	0.75805	0.563000	0.77884	GAC		0.567	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	33	0	0	0	0.00308	0	8	33				
ZP2	7783	broad.mit.edu	37	16	21217083	21217083	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21217083C>T	ENST00000574002.1	-	7	979	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	ZP2_ENST00000574091.1_Missense_Mutation_p.R166Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R166Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	166					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.R166Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGAGAAGACCCGTGGCAAGGA	0.368																																							uc002dii.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(496-498)CGG>CAG		zona pellucida glycoprotein 2 preproprotein							97.0	103.0	101.0					16																	21217083		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21217083C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.497G>A	16.37:g.21217083C>T	ENSP00000460971:p.Arg166Gln					ZP2_uc010bwn.1_Missense_Mutation_p.R205Q|ZP2_uc010bwo.2_Missense_Mutation_p.R205Q	p.R166Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	497	-			166			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.497G>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417389	0.42918	.	.	ENSG00000103310	ENST00000219593	T	0.74842	-0.88	4.83	-1.67	0.08238	.	1.902170	0.02423	N	0.082792	T	0.48295	0.1492	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.24963	0.115;0.04;0.04	B;B;B	0.12156	0.006;0.007;0.003	T	0.39522	-0.9610	10	0.11182	T	0.66	5.6719	6.3907	0.21585	0.1395:0.5189:0.0:0.3416	.	166;166;166	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	Q	166	ENSP00000219593:R166Q	ENSP00000219593:R166Q	R	-	2	0	ZP2	21124584	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-0.386000	0.07370	-0.471000	0.06891	0.655000	0.94253	CGG		0.368	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			14	56	0	0	0	0.004007	0	14	56				
OTOA	146183	broad.mit.edu	37	16	21726422	21726422	+	Silent	SNP	C	C	A	rs151328702		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21726422C>A	ENST00000286149.4	+	13	1480	c.1479C>A	c.(1477-1479)tcC>tcA	p.S493S	OTOA_ENST00000388956.4_Silent_p.S400S|OTOA_ENST00000388958.3_Silent_p.S479S|OTOA_ENST00000388957.3_Silent_p.S155S			Q7RTW8	OTOAN_HUMAN	otoancorin	493					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.S479S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTGCCGTCTCCCAGTATGTAT	0.572																																							uc002djh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1435-1437)TCC>TCA		otoancorin isoform 1		C	,,	0,4398		0,0,2199	234.0	212.0	219.0		1200,1437,465	-0.3	0.0	16	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OTOA	NM_001161683.1,NM_144672.3,NM_170664.2	,,	0,1,6498	AA,AC,CC		0.0116,0.0,0.0077	,,	400/1061,479/1140,155/816	21726422	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726422C>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1479C>A	16.37:g.21726422C>A						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.S400S|OTOA_uc002dji.2_Silent_p.S155S|OTOA_uc010vbk.1_Silent_p.S127S	p.S479S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	1438	+			493					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1437C>A																																																																																					0.572	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			17	428	1	0	1.40151e-16	0.010504	2.39841e-16	17	428				
SCNN1G	6340	broad.mit.edu	37	16	23197833	23197833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:23197833G>T	ENST00000300061.2	+	2	384	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	81					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.V81F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTTCTATACTGTCTCAGTTTC	0.572																																							uc002dlm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(241-243)GTC>TTC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						61.0	58.0	59.0					16																	23197833		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23197833G>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.241G>T	16.37:g.23197833G>T	ENSP00000300061:p.Val81Phe						p.V81F	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	380	+			81			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.241G>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870855	0.51695	.	.	ENSG00000166828	ENST00000300061	T	0.66280	-0.2	5.12	4.17	0.49024	.	0.600512	0.16242	N	0.223095	T	0.75087	0.3802	M	0.85945	2.785	0.35250	D	0.778623	D	0.54772	0.968	P	0.53450	0.726	D	0.83648	0.0154	10	0.87932	D	0	-15.3534	12.3237	0.54999	0.0832:0.0:0.9168:0.0	.	81	P51170	SCNNG_HUMAN	F	81	ENSP00000300061:V81F	ENSP00000300061:V81F	V	+	1	0	SCNN1G	23105334	1.000000	0.71417	0.975000	0.42487	0.365000	0.29674	3.615000	0.54167	1.154000	0.42482	-0.253000	0.11424	GTC		0.572	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		9	113	1	0	5.4927e-09	0.004482	7.5381e-09	9	113				
CACNG3	10368	broad.mit.edu	37	16	24373044	24373044	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24373044G>A	ENST00000005284.3	+	4	2010	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	270					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D270N(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCTCTCCCGGGACCCCTCAAA	0.562																																							uc002dmf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GAC>AAC		voltage-dependent calcium channel gamma-3							102.0	110.0	107.0					16																	24373044		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373044G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.808G>A	16.37:g.24373044G>A	ENSP00000005284:p.Asp270Asn						p.D270N	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2008	+			270						Missense_Mutation	SNP	ENST00000005284.3	37	c.808G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.402617	0.83230	.	.	ENSG00000006116	ENST00000005284	T	0.60424	0.19	4.93	4.93	0.64822	.	0.162814	0.52532	D	0.000063	T	0.61198	0.2328	L	0.61218	1.895	0.48571	D	0.999674	P	0.48911	0.917	P	0.44477	0.451	T	0.68700	-0.5339	10	0.72032	D	0.01	-18.0429	17.8078	0.88607	0.0:0.0:1.0:0.0	.	270	O60359	CCG3_HUMAN	N	270	ENSP00000005284:D270N	ENSP00000005284:D270N	D	+	1	0	CACNG3	24280545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.136000	0.94489	2.266000	0.75297	0.645000	0.84053	GAC		0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		30	159	0	0	0	0.002096	0	30	159				
TNRC6A	27327	broad.mit.edu	37	16	24801619	24801619	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24801619G>T	ENST00000395799.3	+	6	1785	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q552H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	552	Interaction with argonaute family proteins.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q552H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTCTAATGCAGCCTGGCGTAA	0.463																																							uc002dmm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1654-1656)CAG>CAT		trinucleotide repeat containing 6A							131.0	124.0	127.0					16																	24801619		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801619G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1656G>T	16.37:g.24801619G>T	ENSP00000379144:p.Gln552His					TNRC6A_uc010bxs.2_Missense_Mutation_p.Q299H|TNRC6A_uc010vcc.1_Missense_Mutation_p.Q299H|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q299H|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q299H	p.Q552H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1770	+			552			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1656G>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632258	0.46944	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13307	2.6;2.61	5.79	5.79	0.91817	.	0.440245	0.25833	N	0.028010	T	0.32496	0.0831	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.995;0.987;0.998	D;P;D	0.65573	0.935;0.875;0.936	T	0.00203	-1.1924	10	0.44086	T	0.13	6.0E-4	19.025	0.92929	0.0:0.0:1.0:0.0	.	299;552;552	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	H	552	ENSP00000326900:Q552H;ENSP00000379144:Q552H	ENSP00000326900:Q552H	Q	+	3	2	TNRC6A	24709120	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.004000	0.76317	2.735000	0.93741	0.563000	0.77884	CAG		0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		14	174	1	0	2.32078e-09	0.003163	3.24613e-09	14	174				
SLC5A11	115584	broad.mit.edu	37	16	24888676	24888676	+	Missense_Mutation	SNP	C	C	A	rs201071374		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24888676C>A	ENST00000347898.3	+	7	1197	c.575C>A	c.(574-576)aCg>aAg	p.T192K	SLC5A11_ENST00000539472.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T122K|SLC5A11_ENST00000569071.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T157K|SLC5A11_ENST00000449109.2_Missense_Mutation_p.T128K|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T157K|SLC5A11_ENST00000565769.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T122K	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.T192K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGTATACACGGTTGCTGGT	0.532																																							uc002dmu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(574-576)ACG>AAG		solute carrier family 5 (sodium/glucose							229.0	181.0	197.0					16																	24888676		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24888676C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.575C>A	16.37:g.24888676C>A	ENSP00000289932:p.Thr192Lys					SLC5A11_uc002dms.2_Missense_Mutation_p.T128K|SLC5A11_uc010vcd.1_Missense_Mutation_p.T157K|SLC5A11_uc002dmt.2_Missense_Mutation_p.T128K|SLC5A11_uc010vce.1_Missense_Mutation_p.T122K|SLC5A11_uc010bxt.2_Missense_Mutation_p.T128K	p.T192K	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	7	807	+			192			Helical; (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.575C>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424959	0.62733	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	H	0.97852	4.09	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	D	0.98623	1.0668	10	0.87932	D	0	.	16.5892	0.84760	0.0:1.0:0.0:0.0	.	122;157;192;128	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	K	192;128;157;122;128	ENSP00000289932:T192K;ENSP00000389606:T128K;ENSP00000416782:T157K;ENSP00000441384:T122K;ENSP00000441018:T128K	ENSP00000289932:T192K	T	+	2	0	SLC5A11	24796177	1.000000	0.71417	0.948000	0.38648	0.015000	0.08874	7.088000	0.76901	2.565000	0.86533	0.655000	0.94253	ACG		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		19	348	1	0	8.34094e-07	0.008871	1.0409e-06	19	348				
IL4R	3566	broad.mit.edu	37	16	27373906	27373906	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27373906C>T	ENST00000395762.2	+	11	1492	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL4R_ENST00000380922.3_Silent_p.F396F|IL4R_ENST00000543915.2_Silent_p.F411F|IL4R_ENST00000170630.2_Silent_p.F411F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	411					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.F411F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAGCCTGTTCCTGGACCTGC	0.582																																							uc002don.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1231-1233)TTC>TTT		interleukin 4 receptor alpha chain isoform a							68.0	71.0	70.0					16																	27373906		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373906C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1233C>T	16.37:g.27373906C>T						IL4R_uc002dop.3_Silent_p.F396F|IL4R_uc010bxy.2_Silent_p.F411F|IL4R_uc002doo.2_Silent_p.F251F	p.F411F	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1475	+			411			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.1233C>T	CCDS10629.1																																																																																				0.582	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			22	96	0	0	0	0.00278	0	22	96				
IL21R	50615	broad.mit.edu	37	16	27460382	27460382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27460382G>T	ENST00000337929.3	+	9	1868	c.1395G>T	c.(1393-1395)tgG>tgT	p.W465C	IL21R_ENST00000395754.4_Missense_Mutation_p.W465C|IL21R_ENST00000395755.1_Missense_Mutation_p.W465C|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.W465C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	465					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.W465C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GACTGCCCTGGGGTGGCCGGT	0.662			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1393-1395)TGG>TGT		interleukin 21 receptor precursor							29.0	33.0	32.0					16																	27460382		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460382G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1395G>T	16.37:g.27460382G>T	ENSP00000338010:p.Trp465Cys					IL21R_uc002dor.1_Missense_Mutation_p.W465C|IL21R_uc002dos.1_Missense_Mutation_p.W465C|uc002dot.2_RNA	p.W465C	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1628	+			465			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1395G>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130617	0.56828	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.35048	1.33;1.33;1.33	4.78	3.75	0.43078	.	1.551490	0.03001	N	0.148176	T	0.56156	0.1966	L	0.57536	1.79	0.47621	D	0.999475	D	0.76494	0.999	D	0.64595	0.927	T	0.47169	-0.9138	10	0.39692	T	0.17	-15.1651	9.4434	0.38681	0.0:0.0:0.7884:0.2116	.	465	Q9HBE5	IL21R_HUMAN	C	465	ENSP00000338010:W465C;ENSP00000379104:W465C;ENSP00000379103:W465C	ENSP00000338010:W465C	W	+	3	0	IL21R	27367883	0.991000	0.36638	0.821000	0.32701	0.393000	0.30537	2.414000	0.44627	2.208000	0.71279	0.561000	0.74099	TGG		0.662	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		22	55	1	0	9.78306e-22	0.009535	1.78932e-21	22	55				
GTF3C1	2975	broad.mit.edu	37	16	27476638	27476638	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27476638G>A	ENST00000356183.4	-	33	5313	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	GTF3C1_ENST00000561623.1_Silent_p.F1766F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1766					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.F1766F(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						CCAAGGCCGAGAACCGTCTGC	0.552																																							uc002dov.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5296-5298)TTC>TTT		general transcription factor IIIC, polypeptide							123.0	101.0	108.0					16																	27476638		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476638G>A	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.5298C>T	16.37:g.27476638G>A						GTF3C1_uc002dou.2_Silent_p.F1766F	p.F1766F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			33	5338	-			1766					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.5298C>T	CCDS32414.1																																																																																				0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		14	116	0	0	0	0.001855	0	14	116				
SULT1A2	6799	broad.mit.edu	37	16	28603402	28603402	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:28603402C>T	ENST00000395630.1	-	8	1185	c.835G>A	c.(835-837)Gac>Aac	p.D279N	SULT1A2_ENST00000335715.4_Missense_Mutation_p.D279N|SULT1A2_ENST00000533150.1_Missense_Mutation_p.D246N	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	279					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.D279N(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCGCATAGTCCGCATCGAAG	0.607																																							uc002dqg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)GAC>AAC		sulfotransferase family, cytosolic, 1A,							46.0	39.0	42.0					16																	28603402		2197	4277	6474	SO:0001583	missense	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603402C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.835G>A	16.37:g.28603402C>T	ENSP00000378992:p.Asp279Asn					uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.D279N	p.D279N	NM_177528	NP_803564	P50226	ST1A2_HUMAN			8	1186	-			279					A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	c.835G>A	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.352950	0.24512	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630	D;D;D	0.82081	-1.57;-1.57;-1.57	4.58	-3.93	0.04143	Sulfotransferase domain (1);	0.711015	0.13410	N	0.389925	D	0.87669	0.6235	M	0.88181	2.935	0.24072	N	0.995972	P	0.47910	0.902	P	0.47941	0.562	T	0.82502	-0.0425	10	0.29301	T	0.29	.	21.9507	0.99964	0.0:0.808:0.192:0.0	.	279	P50226	ST1A2_HUMAN	N	246;279;279	ENSP00000435271:D246N;ENSP00000338742:D279N;ENSP00000378992:D279N	ENSP00000338742:D279N	D	-	1	0	SULT1A2	28510903	0.000000	0.05858	0.551000	0.28230	0.080000	0.17528	-0.528000	0.06193	-0.408000	0.07565	0.556000	0.70494	GAC		0.607	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		4	29	0	0	0	0.000602	0	4	29				
SPN	6693	broad.mit.edu	37	16	29675184	29675184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29675184C>A	ENST00000360121.3	+	2	227	c.135C>A	c.(133-135)taC>taA	p.Y45*	SPN_ENST00000395389.2_Nonsense_Mutation_p.Y45*	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y45*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAAAGATGTACACCACTTCAA	0.562																																							uc002dtm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(133-135)TAC>TAA		sialophorin precursor							148.0	139.0	142.0					16																	29675184		2197	4300	6497	SO:0001587	stop_gained	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675184C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.135C>A	16.37:g.29675184C>A	ENSP00000353238:p.Tyr45*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Nonsense_Mutation_p.Y45*|SPN_uc010bzd.2_RNA	p.Y45*	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	271	+			45			Extracellular (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000360121.3	37	c.135C>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.776067	0.49786	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	.	.	.	3.49	-0.996	0.10218	.	7.296610	0.00633	N	0.000493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	7.9055	0.6164	0.00770	0.1955:0.3728:0.1912:0.2405	.	.	.	.	X	45	.	ENSP00000353238:Y45X	Y	+	3	2	SPN	29582685	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.351000	0.07711	-0.141000	0.11374	0.407000	0.27541	TAC		0.562	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			60	155	1	0	1.08141e-31	0.00361	2.09058e-31	60	155				
SEZ6L2	26470	broad.mit.edu	37	16	29884746	29884746	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29884746T>A	ENST00000308713.5	-	14	2830	c.2303A>T	c.(2302-2304)tAc>tTc	p.Y768F	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.Y698F|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.Y654F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.Y724F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	768					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.Y768F(1)|p.Y698F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACGGCTCGTACTTCACTGC	0.642																																							uc002duq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2302-2304)TAC>TTC		seizure related 6 homolog (mouse)-like 2 isoform							87.0	87.0	87.0					16																	29884746		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884746T>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2303A>T	16.37:g.29884746T>A	ENSP00000312550:p.Tyr768Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.Y698F|SEZ6L2_uc002dur.3_Missense_Mutation_p.Y698F|SEZ6L2_uc002dus.3_Missense_Mutation_p.Y654F|SEZ6L2_uc010vec.1_Missense_Mutation_p.Y768F|SEZ6L2_uc010ved.1_Missense_Mutation_p.Y724F	p.Y768F	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			14	2543	-			768			Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2303A>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590615	0.46214	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.33654	1.62;1.4;1.57;1.58	4.39	4.39	0.52855	.	0.322809	0.22512	N	0.059088	T	0.35970	0.0950	L	0.29908	0.895	0.58432	D	0.999999	B;D;P;P;P;D	0.60160	0.028;0.961;0.92;0.943;0.905;0.987	B;P;B;P;B;P	0.55011	0.03;0.489;0.355;0.597;0.393;0.766	T	0.04229	-1.0967	10	0.10636	T	0.68	.	12.7207	0.57140	0.0:0.0:0.0:1.0	.	724;768;654;698;768;698	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	F	698;768;654;724	ENSP00000310206:Y698F;ENSP00000312550:Y768F;ENSP00000319215:Y654F;ENSP00000439412:Y724F	ENSP00000312550:Y768F	Y	-	2	0	SEZ6L2	29792247	0.999000	0.42202	0.997000	0.53966	0.987000	0.75469	3.072000	0.50049	1.831000	0.53308	0.533000	0.62120	TAC		0.642	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		35	106	0	0	0	0.005524	0	35	106				
TAOK2	9344	broad.mit.edu	37	16	29998855	29998855	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29998855G>T	ENST00000308893.4	+	16	4305	c.3262G>T	c.(3262-3264)Gtt>Ttt	p.V1088F	TAOK2_ENST00000416441.2_Missense_Mutation_p.V915F|TAOK2_ENST00000543033.1_Missense_Mutation_p.V975F|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1088					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.V1088F(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTGGTTGCGGGTTCTGCTGCG	0.672																																							uc002dva.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3262-3264)GTT>TTT		TAO kinase 2 isoform 2							43.0	53.0	49.0					16																	29998855		2196	4299	6495	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998855G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3262G>T	16.37:g.29998855G>T	ENSP00000310094:p.Val1088Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.V1095F|TAOK2_uc002dvd.1_Missense_Mutation_p.V915F	p.V1088F	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	4045	+			1088					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3262G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230850	0.22542	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.74315	-0.83;-0.83	4.8	1.66	0.24008	.	0.697402	0.12377	N	0.474266	T	0.55625	0.1932	N	0.19112	0.55	0.21527	N	0.999652	B;B;B	0.26672	0.077;0.156;0.077	B;B;B	0.29716	0.034;0.106;0.018	T	0.41288	-0.9517	9	.	.	.	.	5.4143	0.16365	0.1781:0.3134:0.5085:0.0	.	1279;915;1088	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	F	1088;975	ENSP00000310094:V1088F;ENSP00000440336:V975F	.	V	+	1	0	TAOK2	29906356	0.998000	0.40836	0.998000	0.56505	0.583000	0.36354	0.661000	0.25023	0.218000	0.20820	-0.253000	0.11424	GTT		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		35	99	1	0	8.73648e-17	0.004289	1.49899e-16	35	99				
DOC2A	8448	broad.mit.edu	37	16	30021412	30021412	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30021412C>T	ENST00000350119.4	-	2	322	c.132G>A	c.(130-132)ggG>ggA	p.G44G	DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Silent_p.G44G|DOC2A_ENST00000564979.1_Silent_p.G44G	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	44	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.G44G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ccccgccgcccccTTCAGGTC	0.721																																							uc002dvm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(130-132)GGG>GGA		double C2-like domains, alpha							16.0	20.0	19.0					16																	30021412		2120	4218	6338	SO:0001819	synonymous_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021412C>T	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.132G>A	16.37:g.30021412C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.G44G|DOC2A_uc002dvn.2_Silent_p.G44G|DOC2A_uc010vef.1_Intron|DOC2A_uc002dvo.2_Silent_p.G44G|DOC2A_uc002dvp.2_Silent_p.G44G|DOC2A_uc002dvq.2_Silent_p.G44G	p.G44G	NM_003586	NP_003577	Q14183	DOC2A_HUMAN			2	232	-			44			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Silent	SNP	ENST00000350119.4	37	c.132G>A	CCDS10666.1																																																																																				0.721	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		14	44	0	0	0	0.00499	0	14	44				
ITGAL	3683	broad.mit.edu	37	16	30507518	30507518	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30507518G>T	ENST00000356798.6	+	14	1784	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V	ITGAL_ENST00000358164.5_Missense_Mutation_p.G452V|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	535					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.G535V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AACGGCGATGGGCTGGTAGAC	0.622																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1603-1605)GGG>GTG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						86.0	96.0	93.0					16																	30507518		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507518G>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1604G>T	16.37:g.30507518G>T	ENSP00000349252:p.Gly535Val					ITGAL_uc002dyj.3_Missense_Mutation_p.G452V|ITGAL_uc010vev.1_Intron	p.G535V	NM_002209	NP_002200	P20701	ITAL_HUMAN			14	1780	+			535			Potential.|FG-GAP 6.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1604G>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532748	0.45073	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.91295	-2.82;-2.82	5.94	-0.171	0.13331	.	1.445970	0.03916	N	0.282696	D	0.96027	0.8706	H	0.96460	3.825	0.09310	N	1	P;P	0.48911	0.917;0.874	P;P	0.58266	0.732;0.836	T	0.82078	-0.0635	10	0.49607	T	0.09	.	7.5414	0.27740	0.2626:0.1146:0.6228:0.0	.	452;535	Q96HB1;P20701	.;ITAL_HUMAN	V	535;452	ENSP00000349252:G535V;ENSP00000350886:G452V	ENSP00000349252:G535V	G	+	2	0	ITGAL	30415019	0.000000	0.05858	0.028000	0.17463	0.259000	0.26198	0.792000	0.26929	0.098000	0.17522	0.563000	0.77884	GGG		0.622	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			52	199	1	0	2.65773e-34	0.00361	5.19406e-34	52	199				
ITGAL	3683	broad.mit.edu	37	16	30510525	30510525	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30510525C>A	ENST00000356798.6	+	16	2143	c.1963C>A	c.(1963-1965)Cag>Aag	p.Q655K	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q572K|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	655					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.Q655K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATCTGTTTCCAGATCAAGTC	0.522																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1963-1965)CAG>AAG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						123.0	116.0	118.0					16																	30510525		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510525C>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1963C>A	16.37:g.30510525C>A	ENSP00000349252:p.Gln655Lys					ITGAL_uc002dyj.3_Missense_Mutation_p.Q572K|ITGAL_uc010vev.1_Intron	p.Q655K	NM_002209	NP_002200	P20701	ITAL_HUMAN			16	2139	+			655			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1963C>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088246	0.36855	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.42513	0.97;0.97	5.99	4.96	0.65561	Integrin alpha-2 (1);	0.382752	0.22724	N	0.056401	T	0.43700	0.1259	M	0.68317	2.08	0.49915	D	0.999839	B;B	0.29270	0.24;0.24	B;B	0.40702	0.338;0.309	T	0.43956	-0.9359	10	0.30854	T	0.27	.	4.5655	0.12184	0.2204:0.6563:0.0:0.1233	.	572;655	Q96HB1;P20701	.;ITAL_HUMAN	K	655;572	ENSP00000349252:Q655K;ENSP00000350886:Q572K	ENSP00000349252:Q655K	Q	+	1	0	ITGAL	30418026	0.997000	0.39634	0.993000	0.49108	0.932000	0.56968	0.748000	0.26305	2.857000	0.98124	0.650000	0.86243	CAG		0.522	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			39	144	1	0	5.44703e-19	0.009718	9.70113e-19	39	144				
SRCAP	10847	broad.mit.edu	37	16	30724540	30724540	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30724540G>A	ENST00000262518.4	+	15	2527	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.K714K|SRCAP_ENST00000344771.4_Silent_p.K714K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	714	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.K714K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTGGACCAAGCCCAATGCCT	0.493																																							uc002dze.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2140-2142)AAG>AAA		Snf2-related CBP activator protein							126.0	116.0	120.0					16																	30724540		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724540G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2142G>A	16.37:g.30724540G>A						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.K571K|SRCAP_uc010bzz.1_Silent_p.K284K	p.K714K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2527	+			714			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.2142G>A	CCDS10689.2																																																																																				0.493	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		55	146	0	0	0	0.00361	0	55	146				
PRSS36	146547	broad.mit.edu	37	16	31157193	31157193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:31157193G>A	ENST00000268281.4	-	6	695	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	PRSS36_ENST00000418068.2_Missense_Mutation_p.P213S|PRSS36_ENST00000569305.1_Missense_Mutation_p.P213S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	213	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.P213S(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AAGGGACCGGGCTGGCTGTAG	0.627																																							uc002ebd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)CCC>TCC		protease, serine, 36 precursor							57.0	54.0	55.0					16																	31157193		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157193G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.637C>T	16.37:g.31157193G>A	ENSP00000268281:p.Pro213Ser					PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.P213S|PRSS36_uc010vfh.1_Missense_Mutation_p.P213S	p.P213S	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			6	696	-			213			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.637C>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392468	0.25118	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88124	-2.34;-2.34	5.45	2.2	0.27929	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77974	0.4211	N	0.11154	0.105	0.09310	N	1	B;D;D	0.54964	0.271;0.969;0.969	B;P;P	0.56127	0.079;0.792;0.776	T	0.67906	-0.5549	9	0.08599	T	0.76	.	3.973	0.09462	0.0826:0.1387:0.494:0.2847	.	213;213;213	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	S	213	ENSP00000268281:P213S;ENSP00000407160:P213S	ENSP00000268281:P213S	P	-	1	0	PRSS36	31064694	0.885000	0.30320	0.452000	0.26994	0.526000	0.34562	2.674000	0.46867	1.269000	0.44280	0.491000	0.48974	CCC		0.627	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		35	68	0	0	0	0.00623	0	35	68				
ITGAX	3687	broad.mit.edu	37	16	31374570	31374570	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:31374570G>T	ENST00000268296.4	+	14	1706	c.1585G>T	c.(1585-1587)Ggg>Tgg	p.G529W	ITGAX_ENST00000562522.1_Missense_Mutation_p.G529W	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	529					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.G529W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACAGTGCTGGGGGATGTGAA	0.607																																							uc002ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1585-1587)GGG>TGG		integrin alpha X precursor							122.0	131.0	128.0					16																	31374570		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374570G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1585G>T	16.37:g.31374570G>T	ENSP00000268296:p.Gly529Trp					ITGAX_uc002ebt.2_Missense_Mutation_p.G529W|ITGAX_uc010vfk.1_Missense_Mutation_p.G179W	p.G529W	NM_000887	NP_000878	P20702	ITAX_HUMAN			14	1652	+			529			Extracellular (Potential).|FG-GAP 6.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1585G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925441	0.52759	.	.	ENSG00000140678	ENST00000268296	T	0.11385	2.78	4.03	4.03	0.46877	.	.	.	.	.	T	0.46718	0.1407	H	0.97023	3.925	0.32127	N	0.587229	D	0.89917	1.0	D	0.97110	1.0	T	0.68700	-0.5339	9	0.87932	D	0	.	13.447	0.61146	0.0:0.0:1.0:0.0	.	529	P20702	ITAX_HUMAN	W	529	ENSP00000268296:G529W	ENSP00000268296:G529W	G	+	1	0	ITGAX	31282071	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.162000	0.50755	1.952000	0.56665	0.460000	0.39030	GGG		0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		64	251	1	0	8.73484e-25	0.00361	1.6294e-24	64	251				
ABCC12	94160	broad.mit.edu	37	16	48130772	48130772	+	Missense_Mutation	SNP	A	A	T	rs544586060	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48130772A>T	ENST00000311303.3	-	22	3425	c.3080T>A	c.(3079-3081)cTg>cAg	p.L1027Q	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1027	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L1027Q(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCCATTCTCAGCGCAAACCA	0.463																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3079-3081)CTG>CAG		ATP-binding cassette protein C12							189.0	160.0	170.0					16																	48130772		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48130772A>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3080T>A	16.37:g.48130772A>T	ENSP00000311030:p.Leu1027Gln					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.L1027Q	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			22	3426	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1027			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3080T>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716430	0.30413	.	.	ENSG00000140798	ENST00000311303	D	0.92249	-3.0	5.79	4.64	0.57946	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.433003	0.24483	N	0.038139	D	0.92381	0.7582	L	0.58101	1.795	0.80722	D	1	B	0.28760	0.221	B	0.42959	0.403	D	0.92097	0.5685	10	0.87932	D	0	.	11.7977	0.52110	0.8534:0.1466:0.0:0.0	.	1027	Q96J65	MRP9_HUMAN	Q	1027	ENSP00000311030:L1027Q	ENSP00000311030:L1027Q	L	-	2	0	ABCC12	46688273	0.526000	0.26298	0.572000	0.28498	0.022000	0.10575	4.967000	0.63722	2.198000	0.70561	0.533000	0.62120	CTG		0.463	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		19	144	0	0	0	0.010504	0	19	144				
ABCC12	94160	broad.mit.edu	37	16	48162380	48162380	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48162380A>T	ENST00000311303.3	-	9	1850	c.1505T>A	c.(1504-1506)gTg>gAg	p.V502E	ABCC12_ENST00000448542.1_Missense_Mutation_p.V502E|ABCC12_ENST00000416054.1_Missense_Mutation_p.V502E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	502	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V502E(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTTTCTCACCACAAAGCTTAT	0.537																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1504-1506)GTG>GAG		ATP-binding cassette protein C12							264.0	211.0	229.0					16																	48162380		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48162380A>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1505T>A	16.37:g.48162380A>T	ENSP00000311030:p.Val502Glu					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V502E	p.V502E	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			9	1851	-		all_cancers(37;0.0474)|all_lung(18;0.047)	502			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1505T>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	1.248	-0.619485	0.03663	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93076	-3.16;-3.16;-3.16	5.58	-2.35	0.06684	ABC transporter-like (1);	0.604547	0.16922	N	0.194026	T	0.71492	0.3346	N	0.00563	-1.375	0.09310	N	1	P;B	0.37824	0.609;0.002	B;B	0.40329	0.326;0.004	T	0.76774	-0.2835	10	0.02654	T	1	.	6.3956	0.21611	0.4034:0.0:0.4612:0.1354	.	502;502	Q96J65-2;Q96J65	.;MRP9_HUMAN	E	502;502;444;502	ENSP00000311030:V502E;ENSP00000401855:V502E;ENSP00000413046:V502E	ENSP00000311030:V502E	V	-	2	0	ABCC12	46719881	0.046000	0.20272	0.713000	0.30519	0.204000	0.24138	0.003000	0.13083	-0.395000	0.07715	-0.336000	0.08194	GTG		0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		26	142	0	0	0	0.00632	0	26	142				
ABCC12	94160	broad.mit.edu	37	16	48162469	48162469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48162469G>T	ENST00000311303.3	-	9	1761	c.1416C>A	c.(1414-1416)taC>taA	p.Y472*	ABCC12_ENST00000448542.1_Nonsense_Mutation_p.Y472*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.Y472*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	472	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y472*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCTCTCACTGTATGCCTCTG	0.507																																							uc002efc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1414-1416)TAC>TAA		ATP-binding cassette protein C12							241.0	190.0	207.0					16																	48162469		2201	4300	6501	SO:0001587	stop_gained	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48162469G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1416C>A	16.37:g.48162469G>T	ENSP00000311030:p.Tyr472*					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Nonsense_Mutation_p.Y472*	p.Y472*	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			9	1762	-		all_cancers(37;0.0474)|all_lung(18;0.047)	472			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1416C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551915	0.65311	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	.	.	.	4.92	1.87	0.25490	.	0.232072	0.30473	N	0.009560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.061	0.30633	0.2656:0.0:0.7344:0.0	.	.	.	.	X	472;472;414;472	.	ENSP00000311030:Y472X	Y	-	3	2	ABCC12	46719970	0.000000	0.05858	0.004000	0.12327	0.020000	0.10135	0.128000	0.15810	0.674000	0.31244	0.561000	0.74099	TAC		0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		17	97	1	0	1.67942e-08	0.006122	2.27623e-08	17	97				
CHD9	80205	broad.mit.edu	37	16	53331002	53331002	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:53331002G>T	ENST00000398510.3	+	29	5732	c.5645G>T	c.(5644-5646)aGt>aTt	p.S1882I	CHD9_ENST00000447540.1_Missense_Mutation_p.S1882I|CHD9_ENST00000564845.1_Missense_Mutation_p.S1882I|CHD9_ENST00000566029.1_Missense_Mutation_p.S1882I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1882					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S1882I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGATGATAGTTTGGAAAAA	0.383																																							uc002ehb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(5644-5646)AGT>ATT		chromodomain helicase DNA binding protein 9							165.0	164.0	164.0					16																	53331002		1835	4097	5932	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53331002G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5645G>T	16.37:g.53331002G>T	ENSP00000381522:p.Ser1882Ile					CHD9_uc002egy.2_Missense_Mutation_p.S1882I|CHD9_uc002ehc.2_Missense_Mutation_p.S1882I|CHD9_uc002ehf.2_Missense_Mutation_p.S996I|CHD9_uc010cbw.2_Missense_Mutation_p.S250I	p.S1882I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			29	5809	+		all_cancers(37;0.0212)	1882					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5645G>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.867952	0.91587	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91521	-2.86;-2.86	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.95847	0.8648	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.995;0.997	D;D;D;D	0.80764	0.991;0.984;0.986;0.994	D	0.96412	0.9305	10	0.87932	D	0	-13.6526	18.6896	0.91578	0.0:0.0:1.0:0.0	.	250;1882;1882;1882	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1882;1882;250	ENSP00000396345:S1882I;ENSP00000381522:S1882I	ENSP00000381522:S1882I	S	+	2	0	CHD9	51888503	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	9.807000	0.99171	2.421000	0.82119	0.484000	0.47621	AGT		0.383	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		12	148	1	0	0.00010058	0.001368	0.000114483	12	148				
MMP2	4313	broad.mit.edu	37	16	55525859	55525859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55525859G>T	ENST00000219070.4	+	8	1836	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	MMP2_ENST00000437642.2_Nonsense_Mutation_p.E393*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.E367*|MMP2_ENST00000570308.1_Nonsense_Mutation_p.E367*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	443	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				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.E443*(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)	GGGCATTCAGGAGCTCTATGG	0.627																																							uc002ehz.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1327-1329)GAG>TAG		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						39.0	40.0	40.0					16																	55525859		2198	4300	6498	SO:0001587	stop_gained	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525859G>T		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.1327G>T	16.37:g.55525859G>T	ENSP00000219070:p.Glu443*					MMP2_uc010vhd.1_Nonsense_Mutation_p.E367*|MMP2_uc010ccc.2_Nonsense_Mutation_p.E393*|MMP2_uc002eia.3_5'Flank	p.E443*	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)	8	1638	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	443			Required for inhibitor TIMP2 binding.|Collagenase-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation	SNP	ENST00000219070.4	37	c.1327G>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	37	6.115944	0.97296	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.3879	0.94565	0.0:0.0:1.0:0.0	.	.	.	.	X	443;367;393	.	ENSP00000219070:E443X	E	+	1	0	MMP2	54083360	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	4.733000	0.62036	2.592000	0.87571	0.467000	0.42956	GAG		0.627	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			8	69	1	0	0.000673444	0.008291	0.000736708	8	69				
MMP2	4313	broad.mit.edu	37	16	55530859	55530859	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55530859G>A	ENST00000219070.4	+	10	2003	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	MMP2_ENST00000437642.2_Silent_p.T448T|MMP2_ENST00000543485.1_Silent_p.T422T|MMP2_ENST00000570308.1_Silent_p.T422T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	498	Required for inhibitor TIMP2 binding.		T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.T498T(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)	GGACTGTGACGCCACGTGACA	0.607																																							uc002ehz.3		NA																	1	Substitution - coding silent(1)	p.T498M(1)	lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1492-1494)ACG>ACA		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						62.0	56.0	58.0					16																	55530859		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55530859G>A		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.1494G>A	16.37:g.55530859G>A						MMP2_uc010vhd.1_Silent_p.T422T|MMP2_uc010ccc.2_Silent_p.T448T|MMP2_uc002eia.3_5'UTR	p.T498T	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)	10	1805	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	498		T -> M (in a colorectal cancer sample; somatic mutation).	Required for inhibitor TIMP2 binding.|Hemopexin-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1494G>A	CCDS10752.1																																																																																				0.607	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			19	89	0	0	0	0.007413	0	19	89				
LPCAT2	54947	broad.mit.edu	37	16	55562356	55562356	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55562356G>T	ENST00000262134.5	+	3	563	c.379G>T	c.(379-381)Gct>Tct	p.A127S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	127					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.A127S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATTTATAGTTGCTGTAAAAGG	0.368																																							uc002eie.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GCT>TCT		lysophosphatidylcholine acyltransferase 2							161.0	149.0	153.0					16																	55562356		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55562356G>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.379G>T	16.37:g.55562356G>T	ENSP00000262134:p.Ala127Ser						p.A127S	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			3	560	+			127			Lumenal (Potential).		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.379G>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505888	0.00992	.	.	ENSG00000087253	ENST00000262134	D	0.92965	-3.14	5.8	-1.69	0.08186	.	0.788706	0.12755	N	0.441815	T	0.75019	0.3793	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.62383	-0.6866	10	0.15066	T	0.55	-12.1148	1.2951	0.02067	0.3169:0.1082:0.1443:0.4306	.	127	Q7L5N7	PCAT2_HUMAN	S	127	ENSP00000262134:A127S	ENSP00000262134:A127S	A	+	1	0	LPCAT2	54119857	0.008000	0.16893	0.055000	0.19348	0.180000	0.23129	0.325000	0.19628	-0.628000	0.05582	-2.594000	0.00164	GCT		0.368	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		8	80	1	0	0.00621372	0.006214	0.00654636	8	80				
GNAO1	2775	broad.mit.edu	37	16	56388845	56388845	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:56388845C>A	ENST00000262493.6	+	8	1791	c.945C>A	c.(943-945)ccC>ccA	p.P315P	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	315					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.P315P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACCGCTCACCCAACAAAGAAA	0.493																																							uc002eiu.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(943-945)CCC>CCA		guanine nucleotide binding protein, alpha							119.0	100.0	107.0					16																	56388845		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56388845C>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.945C>A	16.37:g.56388845C>A							p.P315P	NM_020988	NP_066268	P09471	GNAO_HUMAN			8	1842	+		all_neural(199;0.159)	315					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.945C>A	CCDS10756.1																																																																																				0.493	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		15	79	1	0	1.05317e-09	0.00245	1.48897e-09	15	79				
GPR56	9289	broad.mit.edu	37	16	57695812	57695812	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:57695812C>G	ENST00000388812.4	+	13	2326	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	GPR56_ENST00000568908.1_Missense_Mutation_p.S623C|GPR56_ENST00000562631.1_Missense_Mutation_p.S623C|GPR56_ENST00000456916.1_Missense_Mutation_p.S629C|GPR56_ENST00000538815.1_Missense_Mutation_p.S623C|GPR56_ENST00000562558.1_Missense_Mutation_p.S623C|GPR56_ENST00000567835.1_Missense_Mutation_p.S629C|GPR56_ENST00000379694.4_Missense_Mutation_p.S459C|GPR56_ENST00000544297.1_Missense_Mutation_p.S448C|GPR56_ENST00000388813.5_Missense_Mutation_p.S623C|GPR56_ENST00000568909.1_Missense_Mutation_p.S629C|GPR56_ENST00000540164.2_Missense_Mutation_p.S623C|GPR56_ENST00000379696.3_Missense_Mutation_p.S629C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	629					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.S629C(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCTTCTTCTCCTTTGCTTCT	0.592																																							uc002emb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1885-1887)TCC>TGC		G protein-coupled receptor 56 isoform a							161.0	134.0	143.0					16																	57695812		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695812C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1886C>G	16.37:g.57695812C>G	ENSP00000373464:p.Ser629Cys					GPR56_uc002ema.1_Missense_Mutation_p.S454C|GPR56_uc002emc.2_Missense_Mutation_p.S623C|GPR56_uc002emf.2_Missense_Mutation_p.S623C|GPR56_uc010vhs.1_Missense_Mutation_p.S629C|GPR56_uc002emd.2_Missense_Mutation_p.S623C|GPR56_uc002eme.2_Missense_Mutation_p.S623C|GPR56_uc010vht.1_Missense_Mutation_p.S628C|GPR56_uc002emg.3_Missense_Mutation_p.S623C|GPR56_uc010vhu.1_Missense_Mutation_p.S448C	p.S629C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			14	2178	+			629			Helical; Name=6; (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1886C>G	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950620	0.73787	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.46451	1.19;0.87;1.19;0.87;1.19;0.87;0.87;0.87	5.17	5.17	0.71159	GPCR, family 2-like (1);	0.203527	0.34959	N	0.003557	T	0.67239	0.2872	M	0.81497	2.545	0.46564	D	0.999101	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.74348	0.935;0.973;0.944;0.983	T	0.71951	-0.4437	10	0.66056	D	0.02	.	17.6579	0.88183	0.0:1.0:0.0:0.0	.	448;628;623;629	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	C	623;629;623;629;623;448;459;629	ENSP00000373465:S623C;ENSP00000373464:S629C;ENSP00000444415:S623C;ENSP00000398034:S629C;ENSP00000444911:S623C;ENSP00000438006:S448C;ENSP00000369016:S459C;ENSP00000369018:S629C	ENSP00000369016:S459C	S	+	2	0	GPR56	56253313	0.997000	0.39634	1.000000	0.80357	0.968000	0.65278	4.453000	0.60061	2.409000	0.81822	0.585000	0.79938	TCC		0.592	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			17	141	0	0	0	0.001882	0	17	141				
GPR56	9289	broad.mit.edu	37	16	57697456	57697456	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:57697456C>T	ENST00000388812.4	+	14	2484	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	GPR56_ENST00000568908.1_Missense_Mutation_p.P676S|GPR56_ENST00000562631.1_Missense_Mutation_p.P676S|GPR56_ENST00000456916.1_Missense_Mutation_p.P682S|GPR56_ENST00000538815.1_Missense_Mutation_p.P676S|GPR56_ENST00000562558.1_Missense_Mutation_p.P676S|GPR56_ENST00000567835.1_Missense_Mutation_p.P682S|GPR56_ENST00000379694.4_Missense_Mutation_p.P512S|GPR56_ENST00000544297.1_Missense_Mutation_p.P501S|GPR56_ENST00000388813.5_Missense_Mutation_p.P676S|GPR56_ENST00000568909.1_Missense_Mutation_p.P682S|GPR56_ENST00000540164.2_Missense_Mutation_p.P676S|GPR56_ENST00000379696.3_Missense_Mutation_p.P682S			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	682					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.P682S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGCCAGGCTCCCCATCAGCTC	0.652																																							uc002emb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2044-2046)CCC>TCC		G protein-coupled receptor 56 isoform a							62.0	62.0	62.0					16																	57697456		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57697456C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2044C>T	16.37:g.57697456C>T	ENSP00000373464:p.Pro682Ser					GPR56_uc002ema.1_Missense_Mutation_p.P507S|GPR56_uc002emc.2_Missense_Mutation_p.P676S|GPR56_uc002emf.2_Missense_Mutation_p.P676S|GPR56_uc010vhs.1_Missense_Mutation_p.P682S|GPR56_uc002emd.2_Missense_Mutation_p.P676S|GPR56_uc002eme.2_Missense_Mutation_p.P676S|GPR56_uc010vht.1_Missense_Mutation_p.P681S|GPR56_uc002emg.3_Missense_Mutation_p.P676S|GPR56_uc010vhu.1_Missense_Mutation_p.P501S	p.P682S	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			15	2336	+			682			Cytoplasmic (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.2044C>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924270	0.73213	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.39997	1.06;1.05;1.06;1.05;1.06;1.93;1.34;1.05	4.79	4.79	0.61399	.	0.152801	0.30820	N	0.008805	T	0.46112	0.1376	N	0.19112	0.55	0.35082	D	0.763547	D;D;P;D	0.89917	1.0;1.0;0.797;1.0	D;D;B;D	0.91635	0.999;0.997;0.323;0.997	T	0.50533	-0.8817	10	0.19147	T	0.46	.	13.317	0.60413	0.0:1.0:0.0:0.0	.	501;681;676;682	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	S	676;682;676;682;676;501;512;682	ENSP00000373465:P676S;ENSP00000373464:P682S;ENSP00000444415:P676S;ENSP00000398034:P682S;ENSP00000444911:P676S;ENSP00000438006:P501S;ENSP00000369016:P512S;ENSP00000369018:P682S	ENSP00000369016:P512S	P	+	1	0	GPR56	56254957	0.997000	0.39634	1.000000	0.80357	0.807000	0.45602	4.401000	0.59716	2.216000	0.71823	0.491000	0.48974	CCC		0.652	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			10	79	0	0	0	0.001368	0	10	79				
CFAP20	29105	broad.mit.edu	37	16	58148824	58148824	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58148824T>C	ENST00000262498.3	-	5	800	c.466A>G	c.(466-468)Atc>Gtc	p.I156V	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'Flank	NM_013242.2	NP_037374.1												p.I156V(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTTGCATGGATCTGTCAAGGC	0.488																																					Pancreas(103;1212 1612 18629 30162 52390)	Pancreas(103;1212 1612 18629 30162 52390)	uc002enb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(466-468)ATC>GTC		transcription factor IIB							91.0	88.0	89.0					16																	58148824		2198	4300	6498	SO:0001630	splice_region_variant	29105				multicellular organismal development			g.chr16:58148824T>C																												ENST00000262498.3:c.466-1A>G	16.37:g.58148824T>C							p.I156V	NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN			5	743	-			156						Missense_Mutation	SNP	ENST00000262498.3	37	c.466A>G	CCDS10793.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457478	0.43634	.	.	ENSG00000070761	ENST00000262498	T	0.51071	0.72	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	N	0.11870	0.19	0.80722	D	1	B	0.11235	0.004	B	0.18561	0.022	T	0.15350	-1.0440	10	0.07990	T	0.79	-38.819	14.2018	0.65710	0.0:0.0:0.0:1.0	.	156	Q9Y6A4	CP080_HUMAN	V	156	ENSP00000262498:I156V	ENSP00000262498:I156V	I	-	1	0	C16orf80	56706325	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.717000	0.84732	2.288000	0.76882	0.533000	0.62120	ATC		0.488	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2		Missense_Mutation	9	64	0	0	0	0.008291	0	9	64				
NDRG4	65009	broad.mit.edu	37	16	58541757	58541757	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58541757C>A	ENST00000570248.1	+	9	772	c.666C>A	c.(664-666)gcC>gcA	p.A222A	NDRG4_ENST00000568640.1_Silent_p.A240A|NDRG4_ENST00000394279.2_Silent_p.A254A|NDRG4_ENST00000258187.5_Silent_p.A254A|NDRG4_ENST00000394282.4_Silent_p.A274A|NDRG4_ENST00000569923.1_Silent_p.A167A|NDRG4_ENST00000563799.1_Silent_p.A240A|NDRG4_ENST00000566192.1_Silent_p.A222A|NDRG4_ENST00000562999.1_Silent_p.A222A|NDRG4_ENST00000356752.4_Silent_p.A252A	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	222					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)		p.A254A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGCCCAATGCCAAGACGCTCC	0.667																																							uc002eno.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(664-666)GCC>GCA		NDRG family member 4 isoform 1							78.0	75.0	76.0					16																	58541757		2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58541757C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.666C>A	16.37:g.58541757C>A						NDRG4_uc002enk.2_Silent_p.A254A|NDRG4_uc002enm.2_Silent_p.A274A|NDRG4_uc010vif.1_Silent_p.A254A|NDRG4_uc010cdk.2_Silent_p.A240A|NDRG4_uc010vig.1_Silent_p.A252A|NDRG4_uc010vih.1_Silent_p.A167A|NDRG4_uc010vii.1_Silent_p.A240A|NDRG4_uc002enp.2_Silent_p.A222A|NDRG4_uc002enq.1_Intron	p.A222A	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			9	772	+			222					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.666C>A	CCDS58466.1																																																																																				0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			9	108	1	0	0.000151284	0.001855	0.0001717	9	108				
CNOT1	23019	broad.mit.edu	37	16	58572800	58572800	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58572800C>A	ENST00000317147.5	-	36	5343	c.5011G>T	c.(5011-5013)Gat>Tat	p.D1671Y	CNOT1_ENST00000245138.4_Missense_Mutation_p.D522Y|CNOT1_ENST00000569240.1_Missense_Mutation_p.D1666Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1671					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.D1671Y(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTGTGGCATCTAGTAAGCCC	0.502																																							uc002env.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(5011-5013)GAT>TAT		CCR4-NOT transcription complex, subunit 1							100.0	85.0	90.0					16																	58572800		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58572800C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5011G>T	16.37:g.58572800C>A	ENSP00000320949:p.Asp1671Tyr					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D1666Y|CNOT1_uc010vik.1_Missense_Mutation_p.D628Y	p.D1671Y	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	36	5304	-			1671					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.5011G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385454	0.61956	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T;T	0.17054	2.3;2.3	5.26	5.26	0.73747	.	0.046947	0.85682	D	0.000000	T	0.22513	0.0543	L	0.55481	1.735	0.80722	D	1	B;B;B	0.31209	0.139;0.248;0.313	B;B;B	0.32805	0.045;0.146;0.153	T	0.02232	-1.1191	10	0.48119	T	0.1	.	18.8774	0.92343	0.0:1.0:0.0:0.0	.	522;1671;1666	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Y	1671;522;1666	ENSP00000320949:D1671Y;ENSP00000245138:D522Y	ENSP00000245138:D522Y	D	-	1	0	CNOT1	57130301	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.818000	0.86416	2.455000	0.83008	0.655000	0.94253	GAT		0.502	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		11	46	1	0	3.07112e-06	0.000978	3.73776e-06	11	46				
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:61851501C>G	ENST00000577390.1	-	7	2113	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	CDH8_ENST00000299345.6_Missense_Mutation_p.E387Q|CDH8_ENST00000584337.1_Missense_Mutation_p.E387Q|CDH8_ENST00000577730.1_Missense_Mutation_p.E387Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498																																							uc002eog.1		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(3)|large_intestine(1)	ovary(6)|skin(2)|breast(1)	9						c.(1159-1161)GAG>CAG		cadherin 8, type 2 preproprotein							112.0	93.0	99.0					16																	61851501		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851501C>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1159G>C	16.37:g.61851501C>G	ENSP00000462701:p.Glu387Gln					CDH8_uc002eoh.2_Missense_Mutation_p.E156Q	p.E387Q	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1411	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	387			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1159G>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738946	0.89573	.	.	ENSG00000150394	ENST00000299345	T	0.65549	-0.16	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.971;0.994	D	0.85784	0.1363	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	203;387	Q3LID3;P55286	.;CADH8_HUMAN	Q	387	ENSP00000299345:E387Q	ENSP00000299345:E387Q	E	-	1	0	CDH8	60409002	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	GAG		0.498	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	52	0	0	0	0.000602	0	5	52				
CDH11	1009	broad.mit.edu	37	16	65005524	65005524	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:65005524C>T	ENST00000268603.4	-	11	2215	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	CDH11_ENST00000394156.3_Missense_Mutation_p.E534K|CDH11_ENST00000566827.1_Missense_Mutation_p.E408K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E534K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGAATGATTTCAGGGGGTAGG	0.423			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1600-1602)GAA>AAA		cadherin 11, type 2 preproprotein							127.0	119.0	122.0					16																	65005524		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005524C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1600G>A	16.37:g.65005524C>T	ENSP00000268603:p.Glu534Lys	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.E534K|CDH11_uc010vin.1_Missense_Mutation_p.E408K	p.E534K	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2034	-		Ovarian(137;0.0973)	534			Cadherin 5.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1600G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669837	0.88348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61274	2.08;0.12	5.88	5.88	0.94601	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	L	0.48174	1.505	0.80722	D	1	D;P	0.71674	0.998;0.761	D;B	0.80764	0.994;0.434	T	0.72896	-0.4153	10	0.87932	D	0	.	19.211	0.93755	0.0:1.0:0.0:0.0	.	534;534	P55287-2;P55287	.;CAD11_HUMAN	K	534;534;517	ENSP00000268603:E534K;ENSP00000377711:E534K	ENSP00000268603:E534K	E	-	1	0	CDH11	63563025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.426000	0.59882	2.789000	0.95967	0.655000	0.94253	GAA		0.423	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		11	79	0	0	0	0.000978	0	11	79				
CENPT	80152	broad.mit.edu	37	16	67861260	67861260	+	IGR	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:67861260C>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000415766.3_Nonsense_Mutation_p.Y522*|TSNAXIP1_ENST00000388833.3_Nonsense_Mutation_p.Y537*|TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.Y591*	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y537*(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGCTCAACTACCGCTCACTGT	0.602																																							uc002euj.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1609-1611)TAC>TAA		translin-associated factor X interacting protein							98.0	103.0	101.0					16																	67861260		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67861260C>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67861260C>A						TSNAXIP1_uc010vjz.1_Nonsense_Mutation_p.Y414*|TSNAXIP1_uc002euf.3_Nonsense_Mutation_p.Y270*|TSNAXIP1_uc010vka.1_Nonsense_Mutation_p.Y591*|TSNAXIP1_uc010vkb.1_Nonsense_Mutation_p.Y522*|TSNAXIP1_uc002eug.3_Nonsense_Mutation_p.Y245*|TSNAXIP1_uc002euh.3_Nonsense_Mutation_p.Y245*|TSNAXIP1_uc002eui.3_Nonsense_Mutation_p.Y245*|TSNAXIP1_uc002euk.2_Nonsense_Mutation_p.Y270*	p.Y537*	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	14	2005	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	537					Q96I29|Q96IC6|Q96NK9|Q9H901	Nonsense_Mutation	SNP	ENST00000562787.1	37	c.1611C>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	37	6.080504	0.97267	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	6.06	4.1	0.47936	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9909	9.6465	0.39870	0.0:0.8384:0.0:0.1616	.	.	.	.	X	522;537;327	.	ENSP00000373485:Y537X	Y	+	3	2	TSNAXIP1	66418761	0.922000	0.31269	0.733000	0.30861	0.347000	0.29111	1.522000	0.35921	0.877000	0.35895	0.655000	0.94253	TAC		0.602	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		16	125	1	0	1.45105e-14	0.006122	2.38171e-14	16	125				
PDPR	55066	broad.mit.edu	37	16	70154618	70154618	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:70154618G>T	ENST00000288050.4	+	3	1180	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	PDPR_ENST00000568530.1_Missense_Mutation_p.G75C|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	75					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.G75C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTTGGAGCAGGGCAGGTAAGG	0.512																																							uc002eyf.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(223-225)GGC>TGC		pyruvate dehydrogenase phosphatase regulatory							62.0	59.0	60.0					16																	70154618		1993	4190	6183	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70154618G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.223G>T	16.37:g.70154618G>T	ENSP00000288050:p.Gly75Cys					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	p.G75C	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	3	1180	+			75					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.223G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496247	0.85069	.	.	ENSG00000090857	ENST00000288050	D	0.83163	-1.69	4.37	4.37	0.52481	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93433	0.6787	10	0.66056	D	0.02	.	16.267	0.82593	0.0:0.0:1.0:0.0	.	75	Q8NCN5	PDPR_HUMAN	C	75	ENSP00000288050:G75C	ENSP00000288050:G75C	G	+	1	0	PDPR	68712119	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.111000	0.94308	2.109000	0.64355	0.502000	0.49764	GGC		0.512	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		7	66	1	0	0.00198382	0.001984	0.00212876	7	66				
HYDIN	54768	broad.mit.edu	37	16	70900088	70900088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:70900088G>T	ENST00000393567.2	-	67	11605	c.11455C>A	c.(11455-11457)Cag>Aag	p.Q3819K	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3819					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.Q3818K(1)|p.Q3770K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCGGGTCTGGTAAACCAAG	0.418																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(11452-11454)CAG>AAG		hydrocephalus inducing isoform a							52.0	51.0	52.0					16																	70900088		1848	4089	5937	SO:0001583	missense	54768							g.chr16:70900088G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11455C>A	16.37:g.70900088G>T	ENSP00000377197:p.Gln3819Lys					HYDIN_uc010cfy.2_RNA	p.Q3818K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			67	11580	-		Ovarian(137;0.0654)	3819					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11452C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589074	0.86851	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01252	5.1	5.18	5.18	0.71444	.	0.000000	0.31872	U	0.006930	T	0.07638	0.0192	M	0.80183	2.485	0.80722	D	1	P	0.45474	0.859	P	0.56474	0.799	T	0.01349	-1.1378	10	0.51188	T	0.08	.	16.8458	0.85980	0.0:0.0:1.0:0.0	.	3818	F8WD23	.	K	3819;3818	ENSP00000377197:Q3819K	ENSP00000313052:Q3818K	Q	-	1	0	HYDIN	69457589	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.932000	0.87634	2.594000	0.87642	0.511000	0.50034	CAG		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	42	1	0	3.86212e-05	0.008291	4.46834e-05	9	42				
HYDIN	54768	broad.mit.edu	37	16	71015470	71015470	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:71015470C>A	ENST00000393567.2	-	29	4484	c.4334G>T	c.(4333-4335)gGc>gTc	p.G1445V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1445					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G1444V(1)|p.G1396V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGATAAAGCCCTACGCGGT	0.393																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4330-4332)GGC>GTC		hydrocephalus inducing isoform a							93.0	88.0	89.0					16																	71015470		1834	4085	5919	SO:0001630	splice_region_variant	54768							g.chr16:71015470C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4333-1G>T	16.37:g.71015470C>A							p.G1444V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			29	4459	-		Ovarian(137;0.0654)	1445					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.4331G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434386	0.62955	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01495	4.83	4.49	4.49	0.54785	.	0.000000	0.33610	U	0.004721	T	0.12178	0.0296	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01169	-1.1430	10	0.72032	D	0.01	.	17.1224	0.86705	0.0:1.0:0.0:0.0	.	1444	F8WD23	.	V	1445;1444	ENSP00000377197:G1445V	ENSP00000313052:G1444V	G	-	2	0	HYDIN	69572971	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	4.874000	0.63064	2.204000	0.70986	0.536000	0.68110	GGC		0.393	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation	32	168	1	0	6.53348e-20	0.003755	1.17531e-19	32	168				
PHLPP2	23035	broad.mit.edu	37	16	71697944	71697944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:71697944C>A	ENST00000568954.1	-	13	2221	c.1843G>T	c.(1843-1845)Gga>Tga	p.G615*	RNU6-208P_ENST00000362431.1_RNA|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.G615*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.G615*|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.G650*|PHLPP2_ENST00000393524.2_Intron|PHLPP2_ENST00000540628.1_5'Flank			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	615					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.G615*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCTCCTCTCCAGTGCAGGCG	0.473																																							uc002fax.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1843-1845)GGA>TGA		PH domain and leucine rich repeat protein							125.0	108.0	113.0					16																	71697944		2198	4300	6498	SO:0001587	stop_gained	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71697944C>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1843G>T	16.37:g.71697944C>A	ENSP00000457991:p.Gly615*					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Intron	p.G615*	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			12	1849	-			615			LRR 16.		A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	c.1843G>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	38	6.848852	0.97885	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272	.	.	.	5.83	5.83	0.93111	.	0.178055	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.9324	19.1078	0.93303	0.0:1.0:0.0:0.0	.	.	.	.	X	422;615;615	.	ENSP00000299971:G422X	G	-	1	0	PHLPP2	70255445	0.992000	0.36948	0.984000	0.44739	0.923000	0.55619	4.512000	0.60469	2.747000	0.94245	0.585000	0.79938	GGA		0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		15	79	1	0	1.5739e-10	0.004007	2.31324e-10	15	79				
RFWD3	55159	broad.mit.edu	37	16	74662537	74662537	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:74662537C>T	ENST00000361070.4	-	11	1879	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	RFWD3_ENST00000571750.1_Missense_Mutation_p.M594I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	594					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M594I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAGCTCTGGGCATGTATGACA	0.517																																							uc002fda.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1780-1782)ATG>ATA		ring finger and WD repeat domain 3							132.0	133.0	132.0					16																	74662537		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74662537C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1782G>A	16.37:g.74662537C>T	ENSP00000354361:p.Met594Ile					RFWD3_uc010vmx.1_Missense_Mutation_p.M114I|RFWD3_uc010cgq.2_Missense_Mutation_p.M594I	p.M594I	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			11	1880	-			594			WD 3.		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1782G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	2.970	-0.212731	0.06140	.	.	ENSG00000168411	ENST00000361070	T	0.15603	2.41	5.23	-2.99	0.05497	.	0.547984	0.19746	N	0.107011	T	0.02970	0.0088	N	0.00583	-1.355	0.23030	N	0.998405	B	0.02656	0.0	B	0.01281	0.0	T	0.38001	-0.9681	10	0.09338	T	0.73	0.6825	6.2777	0.20989	0.3394:0.4333:0.0:0.2273	.	594	Q6PCD5	RFWD3_HUMAN	I	594	ENSP00000354361:M594I	ENSP00000354361:M594I	M	-	3	0	RFWD3	73220038	0.868000	0.29978	0.447000	0.26932	0.857000	0.48899	-0.094000	0.11094	-0.993000	0.03467	-0.302000	0.09304	ATG		0.517	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		18	246	0	0	0	0.008871	0	18	246				
WDR59	79726	broad.mit.edu	37	16	74976635	74976635	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:74976635C>T	ENST00000262144.6	-	7	665		c.e7+1			NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59									p.?(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATTACTCACCCTCTTATCC	0.483																																							uc002fdh.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e7+1		WD repeat domain 59							95.0	87.0	90.0					16																	74976635		2198	4300	6498	SO:0001630	splice_region_variant	79726							g.chr16:74976635C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.534+1G>A	16.37:g.74976635C>T						WDR59_uc002fdi.2_Splice_Site_p.R178_splice|WDR59_uc002fdj.2_Splice_Site_p.R178_splice	p.R178_splice	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			7	636	-								B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Splice_Site	SNP	ENST00000262144.6	37	c.534_splice	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988165	0.93106	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR59	73534136	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.264000	0.78432	2.832000	0.97577	0.655000	0.94253	.		0.483	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	Intron	8	70	0	0	0	0.000978	0	8	70				
TMEM231	79583	broad.mit.edu	37	16	75576504	75576504	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:75576504C>A	ENST00000258173.6	-	5	736	c.660G>T	c.(658-660)agG>agT	p.R220S	RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Missense_Mutation_p.R172S|TMEM231_ENST00000569294.1_5'UTR|RP11-77K12.7_ENST00000460606.1_Missense_Mutation_p.G52V|TMEM231_ENST00000568377.1_Missense_Mutation_p.R249S	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	220					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.R249S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACTCACCGTTCCTCTCCTGGT	0.542																																							uc002fem.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(658-660)AGG>AGT		transmembrane protein 231 isoform 2							108.0	101.0	103.0					16																	75576504		1988	4173	6161	SO:0001583	missense	79583					integral to membrane		g.chr16:75576504C>A		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.660G>T	16.37:g.75576504C>A	ENSP00000258173:p.Arg220Ser					CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Missense_Mutation_p.R249S|TMEM231_uc002fel.2_Missense_Mutation_p.R104S|TMEM231_uc010vne.1_Missense_Mutation_p.R73S|TMEM231_uc010cgx.1_Missense_Mutation_p.R184S	p.R220S	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN			5	723	-			220					A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	c.660G>T	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606842	0.66558	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.64260	-0.09;-0.09	4.33	3.35	0.38373	.	0.203476	0.48767	D	0.000167	T	0.74779	0.3761	M	0.79475	2.455	0.53688	D	0.999978	D;D;D	0.89917	0.997;1.0;0.996	D;D;D	0.91635	0.994;0.999;0.99	T	0.72928	-0.4143	10	0.42905	T	0.14	-5.017	7.4587	0.27283	0.0:0.7934:0.0:0.2066	.	249;220;249	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	S	220;249	ENSP00000258173:R220S;ENSP00000381184:R249S	ENSP00000258173:R220S	R	-	3	2	TMEM231	74134005	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.886000	0.48578	0.928000	0.37168	0.467000	0.42956	AGG		0.542	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416		23	77	1	0	8.24728e-16	0.004656	1.39799e-15	23	77				
ADAMTS18	170692	broad.mit.edu	37	16	77359870	77359870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:77359870G>T	ENST00000282849.5	-	13	2343	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	642	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.P642H(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						TTCATTGCAAGGGTTAATATT	0.388																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1924-1926)CCT>CAT		ADAM metallopeptidase with thrombospondin type 1							99.0	90.0	93.0					16																	77359870		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77359870G>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.1925C>A	16.37:g.77359870G>T	ENSP00000282849:p.Pro642His					ADAMTS18_uc010chc.1_Missense_Mutation_p.P230H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P338H	p.P642H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			13	2344	-			642			TSP type-1 1.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1925C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622587	0.87460	.	.	ENSG00000140873	ENST00000282849	T	0.03524	3.9	5.98	5.98	0.97165	.	0.119514	0.64402	D	0.000020	T	0.09730	0.0239	M	0.75264	2.295	0.80722	D	1	P;B	0.41848	0.763;0.447	B;B	0.40329	0.29;0.326	T	0.00577	-1.1662	10	0.72032	D	0.01	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	642;642	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	642	ENSP00000282849:P642H	ENSP00000282849:P642H	P	-	2	0	ADAMTS18	75917371	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	4.819000	0.62664	2.835000	0.97688	0.650000	0.86243	CCT		0.388	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			14	55	1	0	2.23348e-06	0.004007	2.74033e-06	14	55				
VAT1L	57687	broad.mit.edu	37	16	77896678	77896678	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:77896678C>G	ENST00000302536.2	+	4	766	c.613C>G	c.(613-615)Ccc>Gcc	p.P205A	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	205							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.P205A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCCACTGTCCCCAACGTGAC	0.488																																							uc002ffg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(613-615)CCC>GCC		vesicle amine transport protein 1 homolog (T.							180.0	150.0	160.0					16																	77896678		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77896678C>G	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.613C>G	16.37:g.77896678C>G	ENSP00000303129:p.Pro205Ala						p.P205A	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			4	710	+			205					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.613C>G	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701665	0.68501	.	.	ENSG00000171724	ENST00000302536	T	0.28895	1.59	5.93	5.93	0.95920	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.092020	0.85682	D	0.000000	T	0.18964	0.0455	N	0.12663	0.25	0.80722	D	1	P	0.39216	0.664	B	0.33454	0.164	T	0.05321	-1.0892	10	0.19590	T	0.45	-8.6103	19.949	0.97192	0.0:1.0:0.0:0.0	.	205	Q9HCJ6	VAT1L_HUMAN	A	205	ENSP00000303129:P205A	ENSP00000303129:P205A	P	+	1	0	VAT1L	76454179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.572000	0.60886	2.826000	0.97356	0.655000	0.94253	CCC		0.488	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		20	124	0	0	0	0.010504	0	20	124				
CDYL2	124359	broad.mit.edu	37	16	80638384	80638384	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:80638384C>T	ENST00000570137.2	-	7	1577	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CDYL2_ENST00000562812.1_Silent_p.V475V|CDYL2_ENST00000563890.1_Silent_p.V475V|CDYL2_ENST00000566173.1_Silent_p.V475V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	474						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V474V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTCTCGTTCACGTCTTCCA	0.522																																							uc002ffs.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1420-1422)GTG>GTA		chromodomain protein, Y-like 2							140.0	134.0	136.0					16																	80638384		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80638384C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1422G>A	16.37:g.80638384C>T							p.V474V	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			7	1527	-			474					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1422G>A	CCDS32493.1																																																																																				0.522	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		20	232	0	0	0	0.00278	0	20	232				
OSGIN1	29948	broad.mit.edu	37	16	83992864	83992864	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:83992864G>T	ENST00000343939.2	+	4	699		c.e4-1		OSGIN1_ENST00000361711.3_Splice_Site|OSGIN1_ENST00000565123.1_Splice_Site|OSGIN1_ENST00000393306.1_Splice_Site			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.?(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCTCTCCCCAGGTAACGGCCC	0.577																																							uc002fha.2		NA																	1	Unknown(1)		lung(1)		0						c.e4-1		oxidative stress induced growth inhibitor 1							130.0	112.0	118.0					16																	83992864		2200	4300	6500	SO:0001630	splice_region_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83992864G>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.317-1G>T	16.37:g.83992864G>T						OSGIN1_uc002fhb.2_Splice_Site_p.G23_splice|OSGIN1_uc002fhc.2_Splice_Site_p.G23_splice	p.G106_splice	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			4	700	+								Q52M33|Q86UQ1|Q96S88|Q9BZ70	Splice_Site	SNP	ENST00000343939.2	37	c.317_splice		.	.	.	.	.	.	.	.	.	.	G	16.01	3.001542	0.54254	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5258	0.84330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSGIN1	82550365	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	9.803000	0.99136	2.147000	0.66899	0.205000	0.17691	.		0.577	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370	Intron	18	126	1	0	6.33239e-15	0.010504	1.049e-14	18	126				
DNAAF1	123872	broad.mit.edu	37	16	84189346	84189346	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:84189346C>A	ENST00000378553.5	+	5	857	c.733C>A	c.(733-735)Ccc>Acc	p.P245T	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P245T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	245					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.P245T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAAAGCATGCCCGATTTGGT	0.413																																							uc002fhl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CCC>ACC		leucine rich repeat containing 50							87.0	75.0	79.0					16																	84189346		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84189346C>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.733C>A	16.37:g.84189346C>A	ENSP00000367815:p.Pro245Thr					LRRC50_uc010chi.1_RNA	p.P245T	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			5	914	+			245					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.733C>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302880	0.81136	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.23754	1.89;1.89	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.66939	2.045	0.53688	D	0.999976	D	0.54047	0.964	P	0.58454	0.839	T	0.35500	-0.9786	10	0.38643	T	0.18	-8.9744	18.2248	0.89914	0.0:1.0:0.0:0.0	.	245	Q8NEP3	DAAF1_HUMAN	T	245	ENSP00000334593:P245T;ENSP00000367815:P245T	ENSP00000334593:P245T	P	+	1	0	DNAAF1	82746847	1.000000	0.71417	0.984000	0.44739	0.710000	0.40934	5.651000	0.67951	2.288000	0.76882	0.655000	0.94253	CCC		0.413	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		17	79	1	0	2.48551e-13	0.00499	3.96071e-13	17	79				
KIAA0513	9764	broad.mit.edu	37	16	85112585	85112585	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:85112585C>T	ENST00000566428.1	+	8	1509	c.878C>T	c.(877-879)aCg>aTg	p.T293M	KIAA0513_ENST00000258180.3_Missense_Mutation_p.T293M|KIAA0513_ENST00000567328.1_Missense_Mutation_p.T293M|KIAA0513_ENST00000538274.1_Missense_Mutation_p.T293M			O60268	K0513_HUMAN	KIAA0513	293						cytoplasm (GO:0005737)		p.T293M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TACCTGTACACGCACCTGAAG	0.607																																							uc002fiu.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(877-879)ACG>ATG		hypothetical protein LOC9764							121.0	102.0	108.0					16																	85112585		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85112585C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.878C>T	16.37:g.85112585C>T	ENSP00000457408:p.Thr293Met					KIAA0513_uc002fis.3_Missense_Mutation_p.T293M|KIAA0513_uc010voj.1_Missense_Mutation_p.T293M|KIAA0513_uc002fit.2_Missense_Mutation_p.T293M	p.T293M	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	8	1098	+			293					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.878C>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986990	0.53934	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37752	1.18;1.18	5.62	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.53249	1.67	0.52099	D	0.999941	B;B	0.34290	0.392;0.447	B;B	0.28553	0.055;0.091	T	0.13282	-1.0515	10	0.54805	T	0.06	-12.4237	10.3334	0.43835	0.0:0.8415:0.0:0.1585	.	293;293	B4DSS5;O60268	.;K0513_HUMAN	M	293	ENSP00000446439:T293M;ENSP00000258180:T293M	ENSP00000258180:T293M	T	+	2	0	KIAA0513	83670086	1.000000	0.71417	0.972000	0.41901	0.916000	0.54674	4.359000	0.59449	1.376000	0.46267	0.561000	0.74099	ACG		0.607	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		15	101	0	0	0	0.00499	0	15	101				
JPH3	57338	broad.mit.edu	37	16	87677997	87677997	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87677997C>T	ENST00000284262.2	+	2	758	c.516C>T	c.(514-516)acC>acT	p.T172T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	172					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|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)	calcium-release channel activity (GO:0015278)	p.T172T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCGAGCACACCAACGGCACGG	0.721																																							uc002fkd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(514-516)ACC>ACT		junctophilin 3							48.0	49.0	49.0					16																	87677997		2196	4298	6494	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677997C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.516C>T	16.37:g.87677997C>T						JPH3_uc010vou.1_RNA	p.T172T	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	770	+			172			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.516C>T	CCDS10962.1																																																																																				0.721	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			15	112	0	0	0	0.00499	0	15	112				
JPH3	57338	broad.mit.edu	37	16	87678562	87678562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87678562G>T	ENST00000284262.2	+	2	1323	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	361					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|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)	calcium-release channel activity (GO:0015278)	p.E361*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAAGATCCGCGAGAAGGTGGA	0.677																																							uc002fkd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1081-1083)GAG>TAG		junctophilin 3							27.0	33.0	31.0					16																	87678562		2197	4300	6497	SO:0001587	stop_gained	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678562G>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1081G>T	16.37:g.87678562G>T	ENSP00000284262:p.Glu361*					JPH3_uc010vou.1_RNA	p.E361*	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1335	+			361			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Nonsense_Mutation	SNP	ENST00000284262.2	37	c.1081G>T	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	40	8.423692	0.98806	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	.	.	.	4.56	4.56	0.56223	.	0.050726	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9125	0.79482	0.0:0.0:1.0:0.0	.	.	.	.	X	224;361	.	ENSP00000284262:E361X	E	+	1	0	JPH3	86236063	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.521000	0.67086	2.098000	0.63641	0.561000	0.74099	GAG		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			8	38	1	0	5.4927e-09	0.004482	7.5381e-09	8	38				
CA5A	763	broad.mit.edu	37	16	87921828	87921828	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87921828C>T	ENST00000309893.2	-	7	890	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	275					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.K275K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCACCATCATCTTCTCCTCTT	0.527																																							uc002fkn.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)AAG>AAA		carbonic anhydrase VA, mitochondrial precursor							70.0	61.0	64.0					16																	87921828		2198	4300	6498	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921828C>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.825G>A	16.37:g.87921828C>T							p.K275K	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	881	-			275					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.825G>A	CCDS10965.1																																																																																				0.527	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		8	58	0	0	0	0.004482	0	8	58				
CDH15	1013	broad.mit.edu	37	16	89246675	89246675	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:89246675A>T	ENST00000289746.2	+	3	334	c.269A>T	c.(268-270)gAg>gTg	p.E90V	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E90V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GTGGATGAGGAGCCCCGGGGC	0.602																																							uc002fmt.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(268-270)GAG>GTG		cadherin 15 preproprotein							49.0	44.0	46.0					16																	89246675		2196	4299	6495	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89246675A>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.269A>T	16.37:g.89246675A>T	ENSP00000289746:p.Glu90Val					CDH15_uc010cij.1_Missense_Mutation_p.E90V	p.E90V	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	3	346	+			90			Cadherin 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.269A>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774243	0.69992	.	.	ENSG00000129910	ENST00000289746	T	0.61859	0.07	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000049	T	0.74215	0.3687	M	0.78344	2.41	0.45502	D	0.998461	D	0.67145	0.996	D	0.67231	0.95	T	0.78463	-0.2194	10	0.87932	D	0	.	13.2703	0.60157	1.0:0.0:0.0:0.0	.	90	P55291	CAD15_HUMAN	V	90	ENSP00000289746:E90V	ENSP00000289746:E90V	E	+	2	0	CDH15	87774176	1.000000	0.71417	0.999000	0.59377	0.704000	0.40688	3.676000	0.54612	1.792000	0.52537	0.459000	0.35465	GAG		0.602	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		3	22	0	0	0	0.004672	0	3	22				
C17orf97	400566	broad.mit.edu	37	17	263129	263129	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:263129G>A	ENST00000360127.6	+	2	511	c.495G>A	c.(493-495)cgG>cgA	p.R165R	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	165								p.R165R(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCGAATCGGATCAACGAAA	0.512																																							uc002frh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(493-495)CGG>CGA		hypothetical protein LOC400566							106.0	110.0	108.0					17																	263129		2203	4300	6503	SO:0001819	synonymous_variant	400566							g.chr17:263129G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.495G>A	17.37:g.263129G>A						C17orf97_uc010vpz.1_5'Flank	p.R165R	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN			2	511	+			165					A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.495G>A	CCDS32519.2																																																																																				0.512	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		19	118	0	0	0	0.006122	0	19	118				
CLUH	23277	broad.mit.edu	37	17	2604050	2604050	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:2604050C>A	ENST00000570628.2	-	8	1086	c.981G>T	c.(979-981)gcG>gcT	p.A327A	CLUH_ENST00000435359.1_Silent_p.A327A|CLUH_ENST00000538975.1_Silent_p.A327A			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	327					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.A327A(2)									TGGCATGCTCCGCCTGGGGGG	0.667																																							uc002fuy.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(979-981)GCG>GCT		hypothetical protein LOC23277							42.0	48.0	46.0					17																	2604050		2163	4256	6419	SO:0001819	synonymous_variant	23277						binding	g.chr17:2604050C>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.981G>T	17.37:g.2604050C>A						KIAA0664_uc002fux.1_Silent_p.A259A	p.A327A	NM_015229	NP_056044	O75153	K0664_HUMAN			8	1067	-			327					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.981G>T	CCDS45572.1																																																																																				0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		33	50	1	0	2.40579e-17	0.00623	4.1568e-17	33	50				
MYBBP1A	10514	broad.mit.edu	37	17	4443107	4443107	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:4443107G>A	ENST00000254718.4	-	26	3896	c.3590C>T	c.(3589-3591)cCt>cTt	p.P1197L	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1197L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1197	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.P1197L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTGGCTGCAGGTGTGCCATC	0.602																																							uc002fyb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3589-3591)CCT>CTT		MYB binding protein 1a isoform 2							82.0	83.0	83.0					17																	4443107		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443107G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3590C>T	17.37:g.4443107G>A	ENSP00000254718:p.Pro1197Leu					MYBBP1A_uc002fxz.3_Missense_Mutation_p.P1197L|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.P142L|MYBBP1A_uc010vsa.1_Missense_Mutation_p.P239L	p.P1197L	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			26	3652	-			1197			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3590C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147290	0.77888	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.20738	2.05;2.05	5.03	2.96	0.34315	.	0.646951	0.15099	N	0.280606	T	0.31231	0.0790	L	0.32530	0.975	0.49798	D	0.999823	D;D	0.76494	0.999;0.998	D;D	0.66196	0.942;0.923	T	0.02588	-1.1137	10	0.72032	D	0.01	-6.8735	10.0622	0.42282	0.0:0.0:0.6363:0.3637	.	1197;1197	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	L	1197;1197;537	ENSP00000370968:P1197L;ENSP00000254718:P1197L	ENSP00000254718:P1197L	P	-	2	0	MYBBP1A	4389856	0.012000	0.17670	0.054000	0.19295	0.068000	0.16541	0.565000	0.23578	0.653000	0.30826	0.655000	0.94253	CCT		0.602	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		40	95	0	0	0	0.00361	0	40	95				
BCL6B	255877	broad.mit.edu	37	17	6929781	6929781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:6929781G>T	ENST00000293805.5	+	6	987	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	299					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E299*(1)		skin(1)	1						CCCAGGAAGTGAATTTTTCAG	0.507																																							uc002geg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(895-897)GAA>TAA		B-cell CLL/lymphoma 6, member B (zinc finger							112.0	118.0	116.0					17																	6929781		2011	4193	6204	SO:0001587	stop_gained	255877					nucleus	zinc ion binding	g.chr17:6929781G>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.895G>T	17.37:g.6929781G>T	ENSP00000293805:p.Glu299*					BCL6B_uc010clt.1_Nonsense_Mutation_p.E300*	p.E299*	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			6	952	+			299					Q6PCB4	Nonsense_Mutation	SNP	ENST00000293805.5	37	c.895G>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	38	6.797905	0.97845	.	.	ENSG00000161940	ENST00000293805	.	.	.	5.95	4.79	0.61399	.	1.362440	0.04166	N	0.324003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2867	0.60247	0.0887:0.0:0.9113:0.0	.	.	.	.	X	299	.	ENSP00000293805:E299X	E	+	1	0	BCL6B	6870505	0.968000	0.33430	1.000000	0.80357	0.956000	0.61745	2.675000	0.46875	2.826000	0.97356	0.563000	0.77884	GAA		0.507	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		44	163	1	0	4.25531e-23	0.00361	7.85596e-23	44	163				
TP53	7157	broad.mit.edu	37	17	7577123	7577123	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:7577123A>C	ENST00000269305.4	-	8	1004	c.815T>G	c.(814-816)gTg>gGg	p.V272G	TP53_ENST00000445888.2_Missense_Mutation_p.V272G|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V272G|TP53_ENST00000420246.2_Missense_Mutation_p.V272G|TP53_ENST00000455263.2_Missense_Mutation_p.V272G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACAAACACGCACCTCAAAGCT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		39	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Unknown(2)	p.V272M(66)|p.V272L(24)|p.V272E(8)|p.V272A(7)|p.0?(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|lung(4)|bone(4)|stomach(3)|central_nervous_system(3)|breast(3)|skin(3)|endometrium(2)|large_intestine(1)|soft_tissue(1)|liver(1)|urinary_tract(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942122	TP53	M		c.(814-816)GTG>GGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							63.0	55.0	57.0					17																	7577123		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577123A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.815T>G	17.37:g.7577123A>C	ENSP00000269305:p.Val272Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140G|TP53_uc010cng.1_Missense_Mutation_p.V140G|TP53_uc002gii.1_Missense_Mutation_p.V140G|TP53_uc010cnh.1_Missense_Mutation_p.V272G|TP53_uc010cni.1_Missense_Mutation_p.V272G|TP53_uc002gij.2_Missense_Mutation_p.V272G	p.V272G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1009	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.815T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708162	0.48412	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.13	2.87	0.33458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	N	0.000002	D	0.99648	0.9870	M	0.78456	2.415	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	D	0.99087	1.0839	10	0.33141	T	0.24	-27.8222	6.511	0.22222	0.7602:0.1564:0.0833:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	272;272;272;272;272;261;140	ENSP00000352610:V272G;ENSP00000269305:V272G;ENSP00000398846:V272G;ENSP00000391127:V272G;ENSP00000391478:V272G;ENSP00000425104:V140G	ENSP00000269305:V272G	V	-	2	0	TP53	7517848	0.032000	0.19561	0.353000	0.25747	0.798000	0.45092	0.523000	0.22925	0.396000	0.25283	0.379000	0.24179	GTG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	44	0	0	0	0.008291	0	10	44				
DNAH2	146754	broad.mit.edu	37	17	7722377	7722377	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:7722377G>C	ENST00000572933.1	+	71	12271	c.10811G>C	c.(10810-10812)cGg>cCg	p.R3604P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3604P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3604					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.R3604P(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)				GACTTGGCGCGGGAGGTAAGC	0.602																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(10810-10812)CGG>CCG		dynein heavy chain domain 3							45.0	40.0	42.0					17																	7722377		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7722377G>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.10811G>C	17.37:g.7722377G>C	ENSP00000458355:p.Arg3604Pro					DNAH2_uc010cnm.1_Missense_Mutation_p.R542P	p.R3604P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			70	10825	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3604					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10811G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035683	0.75617	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.54279	0.58	4.07	4.07	0.47477	.	0.168746	0.37219	N	0.002199	D	0.83894	0.5353	H	0.99650	4.68	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.975	D	0.90438	0.4429	10	0.87932	D	0	.	13.3004	0.60321	0.0:0.0:1.0:0.0	.	3565;3604	Q9P225-2;Q9P225	.;DYH2_HUMAN	P	3565;3604	ENSP00000373825:R3604P	ENSP00000353818:R3565P	R	+	2	0	DNAH2	7663102	1.000000	0.71417	0.645000	0.29479	0.073000	0.16967	6.631000	0.74277	2.087000	0.62958	0.462000	0.41574	CGG		0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	14	0	0	0	0.001168	0	6	14				
GAS7	8522	broad.mit.edu	37	17	9830018	9830018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:9830018G>T	ENST00000432992.2	-	10	1114	c.954C>A	c.(952-954)tgC>tgA	p.C318*	GAS7_ENST00000580865.1_Nonsense_Mutation_p.C178*|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Nonsense_Mutation_p.C254*|GAS7_ENST00000579158.1_Nonsense_Mutation_p.C254*|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000542249.1_Nonsense_Mutation_p.C254*|GAS7_ENST00000585266.1_Nonsense_Mutation_p.C258*|GAS7_ENST00000323816.4_Nonsense_Mutation_p.C258*	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592			T	MLL	AML*																																		uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Nonsense(2)		lung(2)	lung(1)|pancreas(1)	2						c.(952-954)TGC>TGA		growth arrest-specific 7 isoform c							93.0	87.0	89.0					17																	9830018		2203	4300	6503	SO:0001587	stop_gained	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9830018G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.954C>A	17.37:g.9830018G>T	ENSP00000407552:p.Cys318*					GAS7_uc010vvc.1_Nonsense_Mutation_p.C132*|GAS7_uc002gmh.1_Nonsense_Mutation_p.C178*|GAS7_uc010vvd.1_Nonsense_Mutation_p.C270*|GAS7_uc002gmi.2_Nonsense_Mutation_p.C254*|GAS7_uc002gmj.1_Nonsense_Mutation_p.C258*|GAS7_uc010coh.1_Nonsense_Mutation_p.C258*	p.C318*	NM_201433	NP_958839	O60861	GAS7_HUMAN			10	1115	-			318			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Nonsense_Mutation	SNP	ENST00000432992.2	37	c.954C>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	37	6.166160	0.97338	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	.	.	.	5.96	-6.36	0.01969	.	0.127526	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.8107	17.6671	0.88206	0.3718:0.0:0.6282:0.0	.	.	.	.	X	318;258;257;178;258;132	.	.	C	-	3	2	GAS7	9770743	0.231000	0.23751	0.914000	0.36105	0.940000	0.58332	-0.118000	0.10692	-1.073000	0.03137	-0.781000	0.03364	TGC		0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		24	72	1	0	1.10923e-09	0.00278	1.56485e-09	24	72				
MYH13	8735	broad.mit.edu	37	17	10209868	10209868	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10209868G>T	ENST00000418404.3	-	36	5537	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1792K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1792					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1792K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCACCGTCTGCTCCAGGTTC	0.557																																							uc002gmk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5374-5376)CAG>AAG		myosin, heavy polypeptide 13, skeletal muscle							143.0	142.0	143.0					17																	10209868		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209868G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5374C>A	17.37:g.10209868G>T	ENSP00000404570:p.Gln1792Lys						p.Q1792K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			37	5464	-			1792			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5374C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940951	0.73557	.	.	ENSG00000006788	ENST00000252172	T	0.77750	-1.12	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.85952	0.5817	M	0.92507	3.315	0.30529	N	0.76766	P	0.37015	0.578	B	0.42462	0.388	D	0.86680	0.1916	9	0.56958	D	0.05	.	17.1412	0.86754	0.0:0.0:1.0:0.0	.	1792	Q9UKX3	MYH13_HUMAN	K	1792	ENSP00000252172:Q1792K	ENSP00000252172:Q1792K	Q	-	1	0	MYH13	10150593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.653000	0.46691	2.347000	0.79759	0.491000	0.48974	CAG		0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		49	189	1	0	2.64514e-33	0.00361	5.15409e-33	49	189				
MYH1	4619	broad.mit.edu	37	17	10409387	10409387	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10409387C>A	ENST00000226207.5	-	18	2092	c.1998G>T	c.(1996-1998)ttG>ttT	p.L666F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	666	Actin-binding. {ECO:0000250}.|Myosin motor.				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.L666F(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						GAGTGCTCCTCAAGTTGGTCA	0.388																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1996-1998)TTG>TTT		myosin, heavy chain 1, skeletal muscle, adult							140.0	139.0	139.0					17																	10409387		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409387C>A		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.1998G>T	17.37:g.10409387C>A	ENSP00000226207:p.Leu666Phe					uc002gml.1_Intron	p.L666F	NM_005963	NP_005954	P12882	MYH1_HUMAN			18	2092	-			666			Myosin head-like.|Actin-binding (By similarity).		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1998G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472305	0.63737	.	.	ENSG00000109061	ENST00000226207	D	0.93659	-3.26	5.18	4.22	0.49857	Myosin head, motor domain (2);	0.000000	0.34460	U	0.003960	D	0.97558	0.9200	H	0.98646	4.29	0.49213	D	0.999761	D	0.67145	0.996	D	0.68483	0.958	D	0.96931	0.9681	10	0.87932	D	0	.	8.7435	0.34571	0.0:0.735:0.1388:0.1262	.	666	P12882	MYH1_HUMAN	F	666	ENSP00000226207:L666F	ENSP00000226207:L666F	L	-	3	2	MYH1	10350112	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.571000	0.23669	2.861000	0.98227	0.650000	0.86243	TTG		0.388	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		22	101	1	0	3.6726e-16	0.003954	6.23614e-16	22	101				
MYH1	4619	broad.mit.edu	37	17	10411224	10411224	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10411224C>G	ENST00000226207.5	-	17	2041	c.1947G>C	c.(1945-1947)caG>caC	p.Q649H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	649	Myosin motor.				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.Q649H(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						CAGACACAGTCTGGAAAGAAG	0.413																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1945-1947)CAG>CAC		myosin, heavy chain 1, skeletal muscle, adult							77.0	85.0	82.0					17																	10411224		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411224C>G		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.1947G>C	17.37:g.10411224C>G	ENSP00000226207:p.Gln649His					uc002gml.1_Intron	p.Q649H	NM_005963	NP_005954	P12882	MYH1_HUMAN			17	2041	-			649			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1947G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610996	0.66558	.	.	ENSG00000109061	ENST00000226207	D	0.87966	-2.32	5.56	4.59	0.56863	Myosin head, motor domain (2);	0.000000	0.41194	U	0.000936	D	0.93462	0.7914	M	0.87381	2.88	0.58432	D	0.999995	D	0.61080	0.989	D	0.65010	0.931	D	0.94373	0.7597	10	0.66056	D	0.02	.	14.602	0.68447	0.0:0.9297:0.0:0.0703	.	649	P12882	MYH1_HUMAN	H	649	ENSP00000226207:Q649H	ENSP00000226207:Q649H	Q	-	3	2	MYH1	10351949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.112000	0.31172	1.484000	0.48361	0.650000	0.86243	CAG		0.413	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		12	90	0	0	0	0.000978	0	12	90				
MYH3	4621	broad.mit.edu	37	17	10547773	10547773	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10547773C>T	ENST00000583535.1	-	14	1392	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	MYH3_ENST00000226209.7_Silent_p.K435K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	435	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.K435K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACAAGAACAACTTTTCATAAA	0.443																																							uc002gmq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1303-1305)AAG>AAA		myosin, heavy chain 3, skeletal muscle,							155.0	151.0	152.0					17																	10547773		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10547773C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1305G>A	17.37:g.10547773C>T							p.K435K	NM_002470	NP_002461	P11055	MYH3_HUMAN			13	1382	-			435			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1305G>A	CCDS11157.1																																																																																				0.443	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		38	112	0	0	0	0.002522	0	38	112				
DNAH9	1770	broad.mit.edu	37	17	11593083	11593083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:11593083G>T	ENST00000262442.4	+	20	4012	c.3944G>T	c.(3943-3945)aGc>aTc	p.S1315I	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1315I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1315	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S1315I(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)		GTGACCTCCAGCATCCATGCC	0.537																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3943-3945)AGC>ATC		dynein, axonemal, heavy chain 9 isoform 2							62.0	56.0	58.0					17																	11593083		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593083G>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.3944G>T	17.37:g.11593083G>T	ENSP00000262442:p.Ser1315Ile					DNAH9_uc010coo.2_Missense_Mutation_p.S609I	p.S1315I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4012	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1315			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3944G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809362	0.50421	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.62364	0.03;0.03	5.73	4.77	0.60923	Dynein heavy chain, domain-2 (1);	0.052039	0.85682	D	0.000000	T	0.79021	0.4376	M	0.88181	2.935	0.80722	D	1	D	0.53151	0.958	P	0.62560	0.904	T	0.81765	-0.0783	10	0.59425	D	0.04	.	10.856	0.46800	0.1431:0.0:0.8569:0.0	.	1315	Q9NYC9	DYH9_HUMAN	I	1315	ENSP00000262442:S1315I;ENSP00000414874:S1315I	ENSP00000262442:S1315I	S	+	2	0	DNAH9	11533808	1.000000	0.71417	0.882000	0.34594	0.473000	0.32948	3.460000	0.53028	1.439000	0.47511	0.655000	0.94253	AGC		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	45	1	0	1.56452e-12	0.007413	2.4359e-12	16	45				
ARHGAP44	9912	broad.mit.edu	37	17	12846933	12846933	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:12846933G>T	ENST00000379672.5	+	9	980	c.680G>T	c.(679-681)aGg>aTg	p.R227M	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R227M|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R227M	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	227	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.R227M(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAATACCACAGGAAGTCCCTG	0.537																																							uc002gnr.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(679-681)AGG>ATG		Rho GTPase-activating protein RICH2							154.0	146.0	148.0					17																	12846933		2016	4176	6192	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12846933G>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.680G>T	17.37:g.12846933G>T	ENSP00000368994:p.Arg227Met					RICH2_uc010vvk.1_Missense_Mutation_p.R227M|RICH2_uc010vvl.1_Missense_Mutation_p.R227M|RICH2_uc002gns.3_Missense_Mutation_p.R27M|RICH2_uc010vvm.1_Missense_Mutation_p.R227M|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'Flank	p.R227M	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			9	1007	+			227			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.680G>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953090	0.34471	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.29397	1.57;1.57	5.63	3.66	0.41972	BAR (3);	0.048639	0.85682	D	0.000000	T	0.53433	0.1796	M	0.78049	2.395	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55192	-0.8179	10	0.87932	D	0	.	10.0283	0.42085	0.1637:0.0:0.8362:0.0	.	227;227	A6NCP5;Q17R89	.;RHG44_HUMAN	M	227	ENSP00000368994:R227M;ENSP00000342566:R227M	ENSP00000342566:R227M	R	+	2	0	ARHGAP44	12787658	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.373000	0.73128	0.737000	0.32582	0.557000	0.71058	AGG		0.537	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		28	101	1	0	4.4194e-11	0.002836	6.58394e-11	28	101				
ELAC2	60528	broad.mit.edu	37	17	12915089	12915089	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:12915089C>A	ENST00000338034.4	-	7	809	c.570G>T	c.(568-570)agG>agT	p.R190S	ELAC2_ENST00000395962.2_Missense_Mutation_p.R171S|ELAC2_ENST00000426905.3_Intron|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000578071.1_3'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	190					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R190S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCTTTCCCCTCCTCTGTTCAC	0.532																																							uc002gnz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(568-570)AGG>AGT		elaC homolog 2 isoform 1							134.0	103.0	114.0					17																	12915089		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12915089C>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.570G>T	17.37:g.12915089C>A	ENSP00000337445:p.Arg190Ser					ELAC2_uc010vvo.1_Missense_Mutation_p.R13S|ELAC2_uc010vvp.1_Missense_Mutation_p.R171S|ELAC2_uc010vvq.1_Missense_Mutation_p.R190S|ELAC2_uc010vvr.1_Intron	p.R190S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			7	665	-			190					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.570G>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881464	0.17467	.	.	ENSG00000006744	ENST00000338034;ENST00000395962	T;T	0.47869	0.83;0.83	4.4	-4.07	0.03975	.	1.805460	0.02028	N	0.048359	T	0.34193	0.0889	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.07443	-1.0772	10	0.10377	T	0.69	-0.1597	2.5246	0.04688	0.1999:0.2091:0.4283:0.1626	.	173;171;13;190	E9PGJ0;G5E9D5;E7ES68;Q9BQ52	.;.;.;RNZ2_HUMAN	S	190;171	ENSP00000337445:R190S;ENSP00000379291:R171S	ENSP00000337445:R190S	R	-	3	2	ELAC2	12855814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.430000	0.02434	-0.703000	0.05049	-0.189000	0.12847	AGG		0.532	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			6	72	1	0	8.12818e-05	0.001984	9.2732e-05	6	72				
NCOR1	9611	broad.mit.edu	37	17	15989745	15989745	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:15989745C>A	ENST00000268712.3	-	23	3285	c.3028G>T	c.(3028-3030)Gct>Tct	p.A1010S	NCOR1_ENST00000395851.1_Missense_Mutation_p.A1026S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1010	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A1010S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATGTGGAGCAGGCTGAAGG	0.438																																							uc002gpo.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(3028-3030)GCT>TCT		nuclear receptor co-repressor 1							68.0	69.0	68.0					17																	15989745		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989745C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3028G>T	17.37:g.15989745C>A	ENSP00000268712:p.Ala1010Ser					NCOR1_uc002gpn.2_Missense_Mutation_p.A1026S|NCOR1_uc002gpp.1_Missense_Mutation_p.A917S|NCOR1_uc002gpq.1_Missense_Mutation_p.A102S	p.A1010S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3268	-			1010			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3028G>T	CCDS11175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.067771|3.067771	0.55539|0.55539	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.86230|.	-2.09;-2.09|.	5.81|5.81	4.85|4.85	0.62838|0.62838	.|.	0.091921|.	0.85682|.	D|.	0.000000|.	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.20845|0.20845	0.615|0.615	0.80722|0.80722	D|D	1|1	D;B;B|.	0.60575|.	0.988;0.141;0.419|.	P;B;B|.	0.54759|.	0.76;0.062;0.131|.	T|T	0.44498|0.44498	-0.9324|-0.9324	10|5	0.02654|.	T|.	1|.	-8.9974|-8.9974	14.0472|14.0472	0.64712|0.64712	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	917;1010;1026|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	S|F	1010;1026;917|81	ENSP00000268712:A1010S;ENSP00000379192:A1026S|.	ENSP00000268712:A1010S|.	A|C	-|-	1|2	0|0	NCOR1|NCOR1	15930470|15930470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	4.416000|4.416000	0.59815|0.59815	1.479000|1.479000	0.48272|0.48272	0.580000|0.580000	0.79431|0.79431	GCT|TGC		0.438	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		33	41	1	0	2.20474e-14	0.003755	3.60375e-14	33	41				
TRPV2	51393	broad.mit.edu	37	17	16330853	16330853	+	Missense_Mutation	SNP	G	G	T	rs372298752		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:16330853G>T	ENST00000338560.7	+	8	1741	c.1342G>T	c.(1342-1344)Gtg>Ttg	p.V448L	TRPV2_ENST00000577397.1_Missense_Mutation_p.V18L|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	448					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.V448L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTACCTCCTCGTGGGCCAGGT	0.572																																							uc002gpy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)GTG>TTG		transient receptor potential cation channel,							66.0	53.0	57.0					17																	16330853		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16330853G>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1342G>T	17.37:g.16330853G>T	ENSP00000342222:p.Val448Leu					TRPV2_uc002gpz.2_Missense_Mutation_p.V18L	p.V448L	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	8	1709	+			448			Helical; (Potential).		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1342G>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	4.397	0.073406	0.08485	.	.	ENSG00000187688	ENST00000338560	D	0.88354	-2.37	5.55	-11.1	0.00147	Ion transport (1);	0.686692	0.14296	N	0.328595	T	0.64405	0.2595	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.62158	-0.6913	10	0.07325	T	0.83	-29.0052	1.0495	0.01577	0.2693:0.3711:0.2005:0.1591	.	448	Q9Y5S1	TRPV2_HUMAN	L	448	ENSP00000342222:V448L	ENSP00000342222:V448L	V	+	1	0	TRPV2	16271578	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.877000	0.04197	-3.301000	0.00192	-1.097000	0.02148	GTG		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		54	56	1	0	1.80625e-27	0.00361	3.43782e-27	54	56				
FBXW10	10517	broad.mit.edu	37	17	18675739	18675739	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:18675739C>T	ENST00000395665.4	+	12	2242	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	FBXW10_ENST00000301938.4_Missense_Mutation_p.T621I|FBXW10_ENST00000308799.4_Missense_Mutation_p.T703I|FBXW10_ENST00000395667.1_Missense_Mutation_p.T674I|FBXW10_ENST00000573605.1_3'UTR			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	674								p.T674I(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGGTCAACACAGAGAGCAAT	0.458																																							uc002guk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2020-2022)ACA>ATA		F-box and WD-40 domain protein 10							162.0	146.0	151.0					17																	18675739		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18675739C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2021C>T	17.37:g.18675739C>T	ENSP00000379025:p.Thr674Ile					FBXW10_uc002guj.2_Missense_Mutation_p.T674I|FBXW10_uc002gul.2_Missense_Mutation_p.T703I|FBXW10_uc010cqh.1_Missense_Mutation_p.T621I	p.T674I	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			12	2253	+			674					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2021C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341833	0.81911	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.62639	0.03;0.19;0.01;0.14	5.57	5.57	0.84162	WD40 repeat-like-containing domain (1);	0.000000	0.36591	U	0.002515	T	0.79770	0.4503	M	0.77103	2.36	0.48395	D	0.999649	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.998;0.991;0.989	T	0.80004	-0.1564	10	0.48119	T	0.1	.	17.0355	0.86474	0.0:1.0:0.0:0.0	.	621;703;674;674	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	I	674;703;621;674	ENSP00000379026:T674I;ENSP00000310382:T703I;ENSP00000306937:T621I;ENSP00000379025:T674I	ENSP00000306937:T621I	T	+	2	0	FBXW10	18616464	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	4.040000	0.57333	2.614000	0.88457	0.655000	0.94253	ACA		0.458	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		73	181	0	0	0	0.00361	0	73	181				
KCNJ12	3768	broad.mit.edu	37	17	21319454	21319454	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:21319454C>A	ENST00000583088.1	+	3	1695	c.800C>A	c.(799-801)cCc>cAc	p.P267H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P267H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	267					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.P267H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CTGGTGTCGCCCATCACCATC	0.607										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(799-801)CCC>CAC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						123.0	92.0	103.0					17																	21319454		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319454C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.800C>A	17.37:g.21319454C>A	ENSP00000463778:p.Pro267His	Prostate(3;0.18)					p.P267H	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1505	+			267			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.800C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350883	0.82132	.	.	ENSG00000184185	ENST00000331718	D	0.97772	-4.53	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99253	1.0888	10	0.87932	D	0	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	267	Q14500	IRK12_HUMAN	H	267	ENSP00000328150:P267H	ENSP00000328150:P267H	P	+	2	0	KCNJ12	21260047	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	7.680000	0.84062	2.554000	0.86153	0.655000	0.94253	CCC		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		11	84	1	0	0.00136819	0.001368	0.00148027	11	84				
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:28435016C>G	ENST00000394835.3	+	23	4678	c.4486C>G	c.(4486-4488)Cca>Gca	p.P1496A	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968A|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372A	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding (GO:0005509)	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353																																							uc002het.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4486-4488)CCA>GCA		EF-hand calcium binding domain 5 isoform a							152.0	141.0	145.0					17																	28435016		1862	4103	5965	SO:0001583	missense	374786						calcium ion binding	g.chr17:28435016C>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4486C>G	17.37:g.28435016C>G	ENSP00000378312:p.Pro1496Ala					EFCAB5_uc010cse.2_Missense_Mutation_p.P1251A|EFCAB5_uc010csf.2_Missense_Mutation_p.P847A	p.P1496A	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			23	4678	+			1496					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4486C>G	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584628	0.65992	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.20069	2.94;2.96;2.1;2.97	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.17152	0.0412	L	0.51422	1.61	0.09310	N	1	B;B;B	0.25312	0.047;0.123;0.123	B;B;B	0.27170	0.074;0.023;0.077	T	0.17653	-1.0362	10	0.59425	D	0.04	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	A	1496;1372;968;1178	ENSP00000378312:P1496A;ENSP00000322003:P1372A;ENSP00000378309:P968A;ENSP00000417009:P1178A	ENSP00000322003:P1372A	P	+	1	0	EFCAB5	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA		0.353	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		39	96	0	0	0	0.00361	0	39	96				
PSMD11	5717	broad.mit.edu	37	17	30806346	30806346	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:30806346A>T	ENST00000261712.3	+	10	1253	c.990A>T	c.(988-990)ttA>ttT	p.L330F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L330F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	330	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.L330F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ATGATAACTTACTAGAACAGA	0.502																																					Ovarian(130;1038 1716 9294 11987 19279)	Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)TTA>TTT		proteasome 26S non-ATPase subunit 11							150.0	143.0	145.0					17																	30806346		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30806346A>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.990A>T	17.37:g.30806346A>T	ENSP00000261712:p.Leu330Phe					PSMD11_uc002hhm.2_Missense_Mutation_p.L330F	p.L330F	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1030	+		Breast(31;0.159)|Ovarian(249;0.182)	330			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.990A>T	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.018752|4.018752	0.75275|0.75275	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	T|.	0.34275|.	1.37|.	5.41|5.41	1.98|1.98	0.26296|0.26296	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.80544|0.80544	0.4643|0.4643	H|H	0.95187|0.95187	3.635|3.635	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.71674|.	0.998|.	D|.	0.77557|.	0.99|.	T|T	0.80193|0.80193	-0.1484|-0.1484	10|5	0.87932|.	D|.	0|.	-3.5518|-3.5518	8.4545|8.4545	0.32890|0.32890	0.7678:0.0:0.2322:0.0|0.7678:0.0:0.2322:0.0	.|.	330|.	O00231|.	PSD11_HUMAN|.	F|S	330|68	ENSP00000261712:L330F|.	ENSP00000261712:L330F|.	L|T	+|+	3|1	2|0	PSMD11|PSMD11	27830459|27830459	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	3.587000|3.587000	0.53957|0.53957	0.141000|0.141000	0.18875|0.18875	0.459000|0.459000	0.35465|0.35465	TTA|ACT		0.502	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		20	200	0	0	0	0.001882	0	20	200				
ASIC2	40	broad.mit.edu	37	17	31415952	31415952	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:31415952G>T	ENST00000359872.6	-	3	1524	c.763C>A	c.(763-765)Cct>Act	p.P255T	ASIC2_ENST00000225823.2_Missense_Mutation_p.P306T|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	255					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.P255T(1)|p.P306T(1)								Amiloride(DB00594)	TGGATGAAAGGTGGCTCAGAC	0.527																																							uc002hhu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(763-765)CCT>ACT		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						92.0	85.0	87.0					17																	31415952		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31415952G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.763C>A	17.37:g.31415952G>T	ENSP00000352934:p.Pro255Thr					ACCN1_uc002hht.2_Missense_Mutation_p.P306T	p.P255T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	3	1037	-		Breast(31;0.042)|Ovarian(249;0.202)	255			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.763C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560390	0.86335	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.71461	-0.57;-0.57	5.32	5.32	0.75619	.	0.055638	0.64402	D	0.000001	D	0.88160	0.6362	M	0.92833	3.35	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.85797	0.1371	10	0.87932	D	0	-11.5982	16.4668	0.84081	0.0:0.0:1.0:0.0	.	255;306	Q16515;E9PBX2	ACCN1_HUMAN;.	T	306;255;61	ENSP00000225823:P306T;ENSP00000352934:P255T	ENSP00000225823:P306T	P	-	1	0	ACCN1	28440065	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	6.618000	0.74214	-0.754000	0.04715	0.260000	0.18958	CCT		0.527	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		34	72	1	0	2.66277e-13	0.006999	4.23974e-13	34	72				
TMEM132E	124842	broad.mit.edu	37	17	32964379	32964379	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:32964379G>C	ENST00000321639.5	+	10	2411	c.2083G>C	c.(2083-2085)Gca>Cca	p.A695P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	695						integral component of membrane (GO:0016021)		p.A695P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCTGCTTCGCGCAGAGCTAAC	0.637																																							uc002hif.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2083-2085)GCA>CCA		transmembrane protein 132E precursor							69.0	72.0	71.0					17																	32964379		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964379G>C	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2083G>C	17.37:g.32964379G>C	ENSP00000316532:p.Ala695Pro						p.A695P	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2411	+			695			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2083G>C	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309402	0.60414	.	.	ENSG00000181291	ENST00000321639	T	0.16457	2.34	4.88	4.88	0.63580	.	0.183267	0.47455	D	0.000224	T	0.20659	0.0497	L	0.53249	1.67	0.28134	N	0.930064	P	0.39044	0.656	B	0.41946	0.371	T	0.12167	-1.0558	10	0.87932	D	0	-5.3508	10.7588	0.46253	0.0857:0.0:0.9143:0.0	.	695	Q6IEE7	T132E_HUMAN	P	695	ENSP00000316532:A695P	ENSP00000316532:A695P	A	+	1	0	TMEM132E	29988492	0.998000	0.40836	0.022000	0.16811	0.471000	0.32888	5.570000	0.67398	2.538000	0.85594	0.643000	0.83706	GCA		0.637	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		34	171	0	0	0	0.005524	0	34	171				
RAD51D	5892	broad.mit.edu	37	17	33428230	33428230	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:33428230G>T	ENST00000345365.6	-	9	1148	c.893C>A	c.(892-894)tCt>tAt	p.S298Y	RAD51D_ENST00000460118.2_Missense_Mutation_p.S179Y|RAD51D_ENST00000590016.1_Missense_Mutation_p.S318Y|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.S139Y|RAD51D_ENST00000394589.4_Missense_Mutation_p.S298Y|RAD51D_ENST00000360276.3_Missense_Mutation_p.S253Y|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.S186Y	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	298					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.S186Y(1)|p.S298Y(1)|p.S318Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTCGGGAAGATTTGGCCAG	0.592								Direct reversal of damage																															uc002hir.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(892-894)TCT>TAT	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							71.0	74.0	73.0					17																	33428230		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33428230G>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.893C>A	17.37:g.33428230G>T	ENSP00000338790:p.Ser298Tyr					RFFL_uc002hiq.2_Missense_Mutation_p.S139Y|RAD51L3_uc010ctj.2_Silent_p.I116I|RAD51L3_uc010wcd.1_Missense_Mutation_p.S318Y|RAD51L3_uc002his.2_Missense_Mutation_p.S186Y|RAD51L3_uc010ctk.2_Missense_Mutation_p.S179Y|RAD51L3_uc010wce.1_Missense_Mutation_p.S179Y|RAD51L3_uc002hit.2_Missense_Mutation_p.S179Y|RAD51L3_uc002hiu.2_Missense_Mutation_p.S121Y	p.S298Y	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	9	1149	-		Ovarian(249;0.17)	298					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.893C>A	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752532	0.31046	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.67865	-0.29;-0.29	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.999;1.0	D	0.87707	0.2564	10	0.87932	D	0	-10.2658	15.8662	0.79067	0.0:0.0:1.0:0.0	.	318;186;298;298	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	Y	298;318;298;253;186	ENSP00000338790:S298Y;ENSP00000353417:S253Y	ENSP00000338408:S298Y	S	-	2	0	RAD51D	30452343	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.177000	0.77650	2.683000	0.91414	0.655000	0.94253	TCT		0.592	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		46	149	1	0	3.76525e-18	0.00361	6.60428e-18	46	149				
LYZL6	57151	broad.mit.edu	37	17	34263782	34263782	+	Silent	SNP	G	G	A	rs148658809		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:34263782G>A	ENST00000585556.1	-	4	688	c.354C>T	c.(352-354)tcC>tcT	p.S118S	LYZL6_ENST00000394523.3_Silent_p.S118S|LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Silent_p.S118S			O75951	LYZL6_HUMAN	lysozyme-like 6	118					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.S118S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGTGCTCCGGACACAATCC	0.567																																							uc002hkj.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(352-354)TCC>TCT		lysozyme-like 6 precursor							110.0	99.0	103.0					17																	34263782		2203	4300	6503	SO:0001819	synonymous_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34263782G>A	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.354C>T	17.37:g.34263782G>A						LYZL6_uc002hkk.1_Silent_p.S118S	p.S118S	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	504	-			118					Q6UW30	Silent	SNP	ENST00000585556.1	37	c.354C>T	CCDS11302.1																																																																																				0.567	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		85	157	0	0	0	0.00361	0	85	157				
LYZL6	57151	broad.mit.edu	37	17	34266291	34266291	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:34266291G>T	ENST00000585556.1	-	2	404	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	LYZL6_ENST00000394523.3_Missense_Mutation_p.R24S|LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000293274.4_Missense_Mutation_p.R24S			O75951	LYZL6_HUMAN	lysozyme-like 6	24					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.R24S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTCACAGCGACTGATGAGG	0.567																																							uc002hkj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CGC>AGC		lysozyme-like 6 precursor							112.0	104.0	107.0					17																	34266291		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266291G>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.70C>A	17.37:g.34266291G>T	ENSP00000468094:p.Arg24Ser					LYZL6_uc002hkk.1_Missense_Mutation_p.R24S	p.R24S	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	220	-			24					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.70C>A	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228392	0.58777	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.73363	-0.74;-0.74	5.29	4.31	0.51392	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.88470	0.6445	H	0.94886	3.595	0.25853	N	0.983915	D	0.89917	1.0	D	0.87578	0.998	T	0.81430	-0.0936	10	0.87932	D	0	-2.197	10.4882	0.44735	0.0944:0.0:0.9056:0.0	.	24	O75951	LYZL6_HUMAN	S	24	ENSP00000293274:R24S;ENSP00000378031:R24S	ENSP00000293274:R24S	R	-	1	0	LYZL6	31290404	0.991000	0.36638	0.001000	0.08648	0.331000	0.28603	2.294000	0.43567	2.646000	0.89796	0.655000	0.94253	CGC		0.567	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		45	113	1	0	2.76378e-25	0.00361	5.18012e-25	45	113				
KRT28	162605	broad.mit.edu	37	17	38953456	38953456	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:38953456C>A	ENST00000306658.7	-	4	833	c.768G>T	c.(766-768)gcG>gcT	p.A256A		NM_181535.3	NP_853513.2			keratin 28									p.A256A(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)				TCAACAAAACCGCGAGGTCTA	0.617																																					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.(766-768)GCG>GCT		keratin 25D							70.0	70.0	70.0					17																	38953456		2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953456C>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.768G>T	17.37:g.38953456C>A							p.A256A	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			4	834	-		Breast(137;0.000301)	256			Rod.|Linker 12.			Silent	SNP	ENST00000306658.7	37	c.768G>T	CCDS11376.1																																																																																				0.617	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		40	98	1	0	6.5261e-18	0.00874	1.14062e-17	40	98				
KRTAP4-4	84616	broad.mit.edu	37	17	39316800	39316800	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39316800G>A	ENST00000390661.3	-	1	183	c.144C>T	c.(142-144)ccC>ccT	p.P48P		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	48	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)		p.P48P(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCACTGGGGTCTGCAGC	0.662																																							uc002hwc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CCC>CCT		keratin associated protein 4.4							43.0	51.0	48.0					17																	39316800		2201	4297	6498	SO:0001819	synonymous_variant	84616					keratin filament		g.chr17:39316800G>A	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.144C>T	17.37:g.39316800G>A							p.P48P	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	184	-		Breast(137;0.000496)	48		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	6.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.144C>T	CCDS11383.1																																																																																				0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			43	93	0	0	0	0.00361	0	43	93				
TUBG1	7283	broad.mit.edu	37	17	40766531	40766531	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:40766531G>C	ENST00000251413.3	+	10	1076	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	338					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.Q338H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	AGAGCTTGCAGAGGATCCGGG	0.657																																					Colon(20;114 698 11420 22864)	Colon(20;114 698 11420 22864)	uc002ian.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)CAG>CAC		tubulin, gamma 1							42.0	46.0	45.0					17																	40766531		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766531G>C	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1014G>C	17.37:g.40766531G>C	ENSP00000251413:p.Gln338His						p.Q338H	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	10	1412	+		Breast(137;0.00116)	338					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1014G>C	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122649	0.37436	.	.	ENSG00000131462	ENST00000251413	D	0.82344	-1.6	4.21	2.06	0.26882	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.84433	2.695	0.58432	D	0.999996	D	0.89917	1.0	D	0.70487	0.969	D	0.90276	0.4311	10	0.72032	D	0.01	-13.5627	10.7514	0.46211	0.1841:0.0:0.8159:0.0	.	338	P23258	TBG1_HUMAN	H	338	ENSP00000251413:Q338H	ENSP00000251413:Q338H	Q	+	3	2	TUBG1	38020057	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.483000	0.45233	0.998000	0.38996	-0.251000	0.11542	CAG		0.657	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		13	51	0	0	0	0.006122	0	13	51				
AOC2	314	broad.mit.edu	37	17	40997103	40997103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:40997103G>T	ENST00000253799.3	+	1	487	c.460G>T	c.(460-462)Gag>Tag	p.E154*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.E154*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	154					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.E154*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGACTGTGGAGCGTCACGG	0.617																																							uc002ibu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(460-462)GAG>TAG		amine oxidase, copper containing 2 isoform b							43.0	38.0	40.0					17																	40997103		2203	4300	6503	SO:0001587	stop_gained	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997103G>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.460G>T	17.37:g.40997103G>T	ENSP00000253799:p.Glu154*					AOC2_uc002ibt.2_Nonsense_Mutation_p.E154*	p.E154*	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	495	+		Breast(137;0.000143)	154					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Nonsense_Mutation	SNP	ENST00000253799.3	37	c.460G>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132183	0.37630	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	.	.	.	5.53	4.57	0.56435	.	0.121240	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-34.5394	6.9407	0.24490	0.159:0.1868:0.6543:0.0	.	.	.	.	X	154	.	ENSP00000253799:E154X	E	+	1	0	AOC2	38250629	0.996000	0.38824	0.738000	0.30950	0.022000	0.10575	0.962000	0.29280	1.341000	0.45600	-0.219000	0.12488	GAG		0.617	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		13	45	1	0	1.04594e-18	0.00623	1.85609e-18	13	45				
BRCA1	672	broad.mit.edu	37	17	41246314	41246314	+	Missense_Mutation	SNP	C	C	A	rs397508848		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:41246314C>A	ENST00000357654.3	-	10	1352	c.1234G>T	c.(1234-1236)Gta>Tta	p.V412L	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412L|BRCA1_ENST00000309486.4_Missense_Mutation_p.V116L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365L|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412L|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412L|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	412					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V412L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1234-1236)GTA>TTA	Homologous_recombination	breast cancer 1, early onset isoform 1							93.0	89.0	90.0					17																	41246314		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246314C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1234G>T	17.37:g.41246314C>A	ENSP00000350283:p.Val412Leu	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V341L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.V365L|BRCA1_uc002ict.2_Missense_Mutation_p.V412L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.V412L|BRCA1_uc002ide.1_Missense_Mutation_p.V243L|BRCA1_uc010cyy.1_Missense_Mutation_p.V412L|BRCA1_uc010whs.1_Missense_Mutation_p.V412L|BRCA1_uc010cyz.2_Missense_Mutation_p.V365L|BRCA1_uc010cza.2_Missense_Mutation_p.V386L|BRCA1_uc010wht.1_Missense_Mutation_p.V116L	p.V412L	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1466	-		Breast(137;0.000717)	412					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1234G>T	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.786|4.786	0.146119|0.146119	0.09134|0.09134	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90844	.|-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.69|4.69	1.12|1.12	0.20585|0.20585	.|.	.|0.820011	.|0.10800	.|N	.|0.632832	D|D	0.89619|0.89619	0.6767|0.6767	M|M	0.71871|0.71871	2.18|2.18	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.26445	.|0.101;0.101;0.044;0.036;0.149;0.004	.|B;B;B;B;B;B	.|0.36766	.|0.059;0.059;0.065;0.065;0.232;0.026	T|T	0.82285|0.82285	-0.0533|-0.0533	5|10	.|0.72032	.|D	.|0.01	.|.	5.3564|5.3564	0.16063|0.16063	0.0:0.6344:0.1574:0.2083|0.0:0.6344:0.1574:0.2083	.|.	.|412;371;412;412;412;412	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	I|L	277|412;412;412;412;116;412;365;412;386;116;412	.|ENSP00000350283:V412L;ENSP00000326002:V412L;ENSP00000246907:V412L;ENSP00000310938:V116L;ENSP00000418960:V412L;ENSP00000418775:V365L;ENSP00000419274:V412L;ENSP00000419988:V386L;ENSP00000418986:V116L;ENSP00000419103:V412L	.|ENSP00000310938:V116L	M|V	-|-	3|1	0|0	BRCA1|BRCA1	38499840|38499840	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.239000|0.239000	0.18023|0.18023	0.144000|0.144000	0.18951|0.18951	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		10	164	1	0	0.000673444	0.008291	0.000736708	10	164				
NBR1	4077	broad.mit.edu	37	17	41345412	41345412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:41345412G>T	ENST00000422280.1	+	12	1740	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	NBR1_ENST00000341165.6_Missense_Mutation_p.K427N|NBR1_ENST00000389312.4_Missense_Mutation_p.K427N|NBR1_ENST00000589872.1_Missense_Mutation_p.K427N|NBR1_ENST00000590996.1_Missense_Mutation_p.K427N|NBR1_ENST00000542611.1_Missense_Mutation_p.K406N	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	427					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K427N(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CAGAAAAGAAGGATGTTTTGG	0.502																																							uc010czd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1279-1281)AAG>AAT		neighbor of BRCA1 gene 1							110.0	108.0	108.0					17																	41345412		1929	4126	6055	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41345412G>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1281G>T	17.37:g.41345412G>T	ENSP00000411250:p.Lys427Asn					NBR1_uc010diz.2_Missense_Mutation_p.K427N|NBR1_uc010whu.1_Missense_Mutation_p.K427N|NBR1_uc010whv.1_Missense_Mutation_p.K427N|NBR1_uc010whw.1_Missense_Mutation_p.K406N|NBR1_uc010whx.1_Missense_Mutation_p.K236N	p.K427N	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	12	1421	+		Breast(137;0.00086)	427					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.1281G>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694233	0.68386	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46819	1.45;0.86;1.45;1.45	6.17	0.641	0.17759	.	0.047345	0.85682	D	0.000000	T	0.61825	0.2378	M	0.68952	2.095	0.44155	D	0.996959	D;D;D;D	0.89917	1.0;0.999;0.971;0.999	D;D;P;D	0.83275	0.996;0.995;0.674;0.995	T	0.58289	-0.7662	10	0.44086	T	0.13	-18.4129	11.3388	0.49520	0.3704:0.0:0.6296:0.0	.	427;406;427;427	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	N	427;406;427;427;427	ENSP00000411250:K427N;ENSP00000437545:K406N;ENSP00000343479:K427N;ENSP00000373963:K427N	ENSP00000343479:K427N	K	+	3	2	NBR1	38598938	0.974000	0.33945	0.996000	0.52242	0.982000	0.71751	0.100000	0.15231	-0.055000	0.13244	-0.150000	0.13652	AAG		0.502	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		17	54	1	0	1.36565e-18	0.00278	2.4169e-18	17	54				
HDAC5	10014	broad.mit.edu	37	17	42155769	42155769	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42155769G>C	ENST00000393622.2	-	27	3675	c.3344C>G	c.(3343-3345)cCc>cGc	p.P1115R	HDAC5_ENST00000225983.6_Missense_Mutation_p.P1116R|HDAC5_ENST00000586802.1_Missense_Mutation_p.P1115R|HDAC5_ENST00000336057.5_Missense_Mutation_p.P1030R	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1115					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P1115R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGCTCCATGGGCTCCTCTGC	0.577																																							uc002ifd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3343-3345)CCC>CGC		histone deacetylase 5 isoform 1							20.0	24.0	23.0					17																	42155769		2202	4298	6500	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42155769G>C	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.3344C>G	17.37:g.42155769G>C	ENSP00000377244:p.Pro1115Arg					HDAC5_uc002ife.1_Missense_Mutation_p.P1115R|HDAC5_uc002iff.1_Missense_Mutation_p.P1116R|HDAC5_uc010czp.1_Missense_Mutation_p.P1030R	p.P1115R	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	27	3555	-		Breast(137;0.00637)|Prostate(33;0.0313)	1115			Nuclear export signal.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.3344C>G	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317760	0.81469	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.61510	0.1;0.1;0.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.974;0.998;0.999	T	0.76814	-0.2820	10	0.66056	D	0.02	-16.3111	14.5784	0.68268	0.0:0.0:1.0:0.0	.	1030;1116;1115	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	R	1116;1115;1030	ENSP00000225983:P1116R;ENSP00000377244:P1115R;ENSP00000337290:P1030R	ENSP00000225983:P1116R	P	-	2	0	HDAC5	39511295	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.365000	0.59486	2.504000	0.84457	0.655000	0.94253	CCC		0.577	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		4	48	0	0	0	0.000602	0	4	48				
ADAM11	4185	broad.mit.edu	37	17	42837203	42837203	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42837203G>T	ENST00000200557.6	+	2	344	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	59					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G59W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGAGAGCTCCGGGGGAGAGGT	0.692																																							uc002ihh.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(175-177)GGG>TGG		ADAM metallopeptidase domain 11 preproprotein							23.0	28.0	26.0					17																	42837203		2202	4300	6502	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42837203G>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.175G>T	17.37:g.42837203G>T	ENSP00000200557:p.Gly59Trp					ADAM11_uc010wjd.1_5'UTR	p.G59W	NM_002390	NP_002381	O75078	ADA11_HUMAN			2	175	+		Prostate(33;0.0959)	59					Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.175G>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542446	0.27563	.	.	ENSG00000073670	ENST00000200557	T	0.07114	3.22	4.34	3.36	0.38483	Peptidase M12B, propeptide (1);	0.160109	0.41097	D	0.000943	T	0.14917	0.0360	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.62740	0.906	T	0.01143	-1.1438	10	0.66056	D	0.02	.	8.1726	0.31264	0.1149:0.0:0.8851:0.0	.	59	O75078	ADA11_HUMAN	W	59	ENSP00000200557:G59W	ENSP00000200557:G59W	G	+	1	0	ADAM11	40192729	1.000000	0.71417	0.988000	0.46212	0.910000	0.53928	5.155000	0.64900	0.787000	0.33731	0.455000	0.32223	GGG		0.692	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		20	44	1	0	6.33239e-15	0.010504	1.049e-14	20	44				
GJC1	10052	broad.mit.edu	37	17	42882703	42882703	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42882703C>A	ENST00000426548.1	-	3	752	c.483G>T	c.(481-483)aaG>aaT	p.K161N	GJC1_ENST00000592524.1_Missense_Mutation_p.K161N|GJC1_ENST00000330514.4_Missense_Mutation_p.K161N|GJC1_ENST00000590758.1_Missense_Mutation_p.K161N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	161					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.K161N(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GGCCATCATGCTTAGGTTTGG	0.478																																							uc002ihj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)AAG>AAT		connexin 45							200.0	180.0	187.0					17																	42882703		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882703C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.483G>T	17.37:g.42882703C>A	ENSP00000411528:p.Lys161Asn					GJC1_uc002ihk.2_Missense_Mutation_p.K161N|GJC1_uc002ihl.2_Missense_Mutation_p.K161N|GJC1_uc010czx.2_Missense_Mutation_p.K161N|GJC1_uc010czy.1_Missense_Mutation_p.K22N	p.K161N	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	994	-		Prostate(33;0.0959)	161			Cytoplasmic (Potential).		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.483G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805038	0.50315	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98150	-4.75;-4.75	5.52	5.52	0.82312	.	0.355858	0.32161	N	0.006492	D	0.97983	0.9336	M	0.69358	2.11	0.52501	D	0.999956	D	0.67145	0.996	D	0.64321	0.924	D	0.97752	1.0215	10	0.54805	T	0.06	.	11.838	0.52338	0.0:0.9201:0.0:0.0799	.	161	P36383	CXG1_HUMAN	N	161	ENSP00000411528:K161N;ENSP00000333193:K161N	ENSP00000333193:K161N	K	-	3	2	GJC1	40238229	0.996000	0.38824	1.000000	0.80357	0.719000	0.41307	0.486000	0.22340	2.581000	0.87130	0.514000	0.50259	AAG		0.478	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		14	309	1	0	2.31682e-05	0.003163	2.70915e-05	14	309				
LRRC37A4P	55073	broad.mit.edu	37	17	43625811	43625811	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:43625811G>T	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GTCCTCTTCGGGGCTGTAGAA	0.512																																							uc002ijh.2		NA																	0					NA						c.(193-195)CCG>ACG		Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347.																																						0							g.chr17:43625811G>T																													17.37:g.43625811G>T						uc010wjv.1_Intron	p.P65T							1	314	-									Missense_Mutation	SNP	ENST00000586411.1	37	c.193C>A																																																																																					0.512	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			22	560	1	0	2.98393e-07	0.00278	3.83565e-07	22	560				
CRHR1	1394	broad.mit.edu	37	17	43910880	43910880	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:43910880C>A	ENST00000398285.3	+	11	993	c.993C>A	c.(991-993)acC>acA	p.T331T	CRHR1_ENST00000577353.1_Silent_p.T302T|CRHR1_ENST00000339069.5_Silent_p.T201T|CRHR1_ENST00000314537.5_Silent_p.T302T|CRHR1_ENST00000352855.5_Silent_p.T262T|CRHR1_ENST00000293493.7_Silent_p.T127T	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	331					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.T302T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGCATCCACCACGTCTGAGA	0.562																																					Ovarian(110;57 1568 10207 38216 49865)	Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(991-993)ACC>ACA		corticotropin releasing hormone receptor 1							122.0	130.0	127.0					17																	43910880		2170	4254	6424	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43910880C>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.993C>A	17.37:g.43910880C>A						CRHR1_uc010wjx.1_Silent_p.T127T|CRHR1_uc002ijp.2_Silent_p.T201T|CRHR1_uc002ijm.2_Silent_p.T302T|CRHR1_uc002ijn.2_Silent_p.T262T|CRHR1_uc010dar.2_Silent_p.T302T|CRHR1_uc010dao.2_Silent_p.T201T|CRHR1_uc010daq.2_Silent_p.T127T	p.T331T	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	11	1258	+	Colorectal(2;0.0416)		331			Cytoplasmic (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.993C>A	CCDS45712.1																																																																																				0.562	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			60	130	1	0	5.02462e-34	0.00361	9.80026e-34	60	130				
WNT9B	7484	broad.mit.edu	37	17	44950057	44950057	+	Silent	SNP	C	C	G	rs548992535		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:44950057C>G	ENST00000290015.2	+	2	305	c.252C>G	c.(250-252)ctC>ctG	p.L84L	WNT9B_ENST00000393461.2_Silent_p.L84L	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	84					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L90L(1)|p.L84L(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGCACCTCGGCCTGCTTG	0.652																																							uc002ikw.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(250-252)CTC>CTG		wingless-type MMTV integration site family,							26.0	30.0	28.0					17																	44950057		2201	4300	6501	SO:0001819	synonymous_variant	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950057C>G	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.252C>G	17.37:g.44950057C>G						WNT9B_uc002ikx.1_Silent_p.L84L	p.L84L	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	289	+			84					Q6UXT4|Q96Q09	Silent	SNP	ENST00000290015.2	37	c.252C>G	CCDS11506.1																																																																																				0.652	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		21	44	0	0	0	0.003954	0	21	44				
CDC27	996	broad.mit.edu	37	17	45206824	45206824	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:45206824C>A	ENST00000066544.3	-	16	2188	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	CDC27_ENST00000531206.1_Missense_Mutation_p.D705Y|CDC27_ENST00000527547.1_Missense_Mutation_p.D698Y|CDC27_ENST00000446365.2_Missense_Mutation_p.D638Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	699					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.D699Y(1)|p.D705Y(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCTTGGGATCAATGACAATG	0.348																																							uc002ild.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(2095-2097)GAT>TAT		cell division cycle protein 27 isoform 2							109.0	110.0	110.0					17																	45206824		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45206824C>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2095G>T	17.37:g.45206824C>A	ENSP00000066544:p.Asp699Tyr					CDC27_uc002ile.3_Missense_Mutation_p.D705Y|CDC27_uc002ilf.3_Missense_Mutation_p.D698Y|CDC27_uc010wkp.1_Missense_Mutation_p.D638Y|CDC27_uc010wkq.1_RNA	p.D699Y	NM_001256	NP_001247	P30260	CDC27_HUMAN			16	2222	-			699			TPR 7.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2095G>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584825	0.86748	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.991;0.991;0.995	D	0.85349	0.1100	10	0.72032	D	0.01	-23.1505	17.2896	0.87152	0.0:1.0:0.0:0.0	.	638;698;705;699	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Y	699;705;638;698	ENSP00000066544:D699Y;ENSP00000434614:D705Y;ENSP00000392802:D638Y;ENSP00000437339:D698Y	ENSP00000066544:D699Y	D	-	1	0	CDC27	42561823	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.810000	0.86072	2.669000	0.90835	0.563000	0.77884	GAT		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			35	72	1	0	2.51541e-25	0.004878	4.71909e-25	35	72				
HOXB3	3213	broad.mit.edu	37	17	46628019	46628019	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:46628019G>T	ENST00000470495.1	-	2	2420	c.973C>A	c.(973-975)Ccg>Acg	p.P325T	HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.P191T|HOXB3_ENST00000489475.1_Missense_Mutation_p.P252T|HOXB3_ENST00000472863.1_Missense_Mutation_p.P252T|HOXB3_ENST00000498678.1_Missense_Mutation_p.P325T|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.P325T|HOXB3_ENST00000311626.4_Missense_Mutation_p.P325T|HOXB3_ENST00000485909.2_Missense_Mutation_p.P193T|HOXB3_ENST00000460160.1_Missense_Mutation_p.P193T|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	325					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P325T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCGGGCGCCGGGGTCGGAGGG	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002inn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(973-975)CCG>ACG		homeobox B3							27.0	35.0	32.0					17																	46628019		2199	4298	6497	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628019G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.973C>A	17.37:g.46628019G>T	ENSP00000417207:p.Pro325Thr		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.1_Missense_Mutation_p.P252T|HOXB3_uc010dbf.2_Missense_Mutation_p.P325T|HOXB3_uc010dbg.2_Missense_Mutation_p.P325T|HOXB3_uc002ino.2_Missense_Mutation_p.P325T|HOXB3_uc010wlk.1_Missense_Mutation_p.P193T|HOXB3_uc010wll.1_Missense_Mutation_p.P252T	p.P325T	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1373	-			325					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.973C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707611	0.15239	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.92647	-2.9;-2.98;-2.9;-2.9;-3.08;-3.07;-3.07;-2.98;-2.9	3.8	3.8	0.43715	.	0.203232	0.32852	N	0.005562	D	0.84266	0.5434	N	0.14661	0.345	0.52099	D	0.999945	P	0.52842	0.956	P	0.47528	0.549	T	0.80728	-0.1253	10	0.25106	T	0.35	.	6.7911	0.23699	0.0:0.2471:0.4591:0.2939	.	325	P14651	HXB3_HUMAN	T	325;252;325;325;191;193;193;252;325	ENSP00000417207:P325T;ENSP00000419676:P252T;ENSP00000308252:P325T;ENSP00000420595:P325T;ENSP00000449977:P191T;ENSP00000418035:P193T;ENSP00000438747:P193T;ENSP00000418729:P252T;ENSP00000418892:P325T	ENSP00000308252:P325T	P	-	1	0	HOXB3	43983018	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.336000	0.43938	2.129000	0.65627	0.462000	0.41574	CCG		0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			12	135	1	0	0.00010058	0.001368	0.000114483	12	135				
IGF2BP1	10642	broad.mit.edu	37	17	47118740	47118740	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:47118740G>C	ENST00000290341.3	+	8	1153	c.819G>C	c.(817-819)acG>acC	p.T273T	IGF2BP1_ENST00000431824.2_Splice_Site_p.Q134H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	273	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.T273T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCCCAAGGGCTGACGAGG	0.498																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(817-819)ACG>ACC		insulin-like growth factor 2 mRNA binding							106.0	97.0	100.0					17																	47118740		2203	4300	6503	SO:0001630	splice_region_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47118740G>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.819-1G>C	17.37:g.47118740G>C						IGF2BP1_uc010dbj.2_Missense_Mutation_p.Q134H	p.T273T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			8	1153	+			273			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Silent	SNP	ENST00000290341.3	37	c.819G>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318752	0.23994	.	.	ENSG00000159217	ENST00000431824	T	0.05996	3.36	5.03	3.82	0.43975	.	.	.	.	.	T	0.03053	0.0090	.	.	.	0.22754	N	0.998773	B	0.23735	0.09	B	0.09377	0.004	T	0.42464	-0.9450	7	.	.	.	.	1.3342	0.02141	0.1504:0.2127:0.4167:0.2202	.	134	C9JT33	.	H	134	ENSP00000389135:Q134H	.	Q	+	3	2	IGF2BP1	44473739	0.943000	0.32029	1.000000	0.80357	0.658000	0.38924	0.010000	0.13242	2.517000	0.84864	0.655000	0.94253	CAG		0.498	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	Silent	7	102	0	0	0	0.004482	0	7	102				
MPO	4353	broad.mit.edu	37	17	56357346	56357346	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:56357346G>C	ENST00000225275.3	-	3	454	c.278C>G	c.(277-279)gCc>gGc	p.A93G	MPO_ENST00000340482.3_Missense_Mutation_p.A93G|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	93					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A93G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CATGGGGCTGGCTGAGCCGCT	0.642																																							uc002ivu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(277-279)GCC>GGC		myeloperoxidase	Cefdinir(DB00535)						31.0	34.0	33.0					17																	56357346		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56357346G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.278C>G	17.37:g.56357346G>C	ENSP00000225275:p.Ala93Gly						p.A93G	NM_000250	NP_000241	P05164	PERM_HUMAN			3	455	-			93					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.278C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432911	0.62844	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71103	-0.54;-0.49	5.24	4.26	0.50523	.	0.430383	0.23302	N	0.049671	T	0.68952	0.3057	M	0.78801	2.425	0.37760	D	0.926295	P	0.41313	0.745	B	0.41813	0.367	T	0.69771	-0.5055	10	0.26408	T	0.33	-32.6796	8.4355	0.32784	0.1722:0.0:0.8278:0.0	.	93	P05164	PERM_HUMAN	G	93	ENSP00000344419:A93G;ENSP00000225275:A93G	ENSP00000225275:A93G	A	-	2	0	MPO	53712345	0.439000	0.25610	0.996000	0.52242	0.982000	0.71751	1.052000	0.30429	2.455000	0.83008	0.561000	0.74099	GCC		0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			16	30	0	0	0	0.00333	0	16	30				
TEX14	56155	broad.mit.edu	37	17	56729334	56729334	+	Missense_Mutation	SNP	G	G	T	rs199725150		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:56729334G>T	ENST00000240361.8	-	2	114	c.29C>A	c.(28-30)cCc>cAc	p.P10H	TEX14_ENST00000349033.5_Missense_Mutation_p.P10H|TEX14_ENST00000389934.3_Missense_Mutation_p.P10H			Q8IWB6	TEX14_HUMAN	testis expressed 14	10					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P10H(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398																																							uc010dcz.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(28-30)CCC>CAC		testis expressed sequence 14 isoform a							77.0	69.0	72.0					17																	56729334		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56729334G>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.29C>A	17.37:g.56729334G>T	ENSP00000240361:p.Pro10His					TEX14_uc002iwr.1_Missense_Mutation_p.P10H|TEX14_uc002iws.1_Missense_Mutation_p.P10H|TEX14_uc010dda.1_5'UTR	p.P10H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			2	147	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		10					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.29C>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981994	0.74474	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;T	0.81739	-1.53;-1.53;-1.45	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000010	D	0.82930	0.5144	N	0.24115	0.695	0.38283	D	0.942498	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86234	0.1639	10	0.87932	D	0	-11.1593	14.587	0.68331	0.0:0.0:1.0:0.0	.	10;10;10	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	10	ENSP00000240361:P10H;ENSP00000374584:P10H;ENSP00000268910:P10H	ENSP00000240361:P10H	P	-	2	0	TEX14	54084333	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	5.300000	0.65721	2.583000	0.87209	0.543000	0.68304	CCC		0.398	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			42	51	1	0	4.44401e-20	0.002522	8.00166e-20	42	51				
BRIP1	83990	broad.mit.edu	37	17	59820497	59820497	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:59820497T>A	ENST00000259008.2	-	16	2525		c.e16-2		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						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.?(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						GAGCTCCATCTTAAACAACAG	0.353			"""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	Unknown(2)		lung(2)	ovary(1)	1						c.e16-1	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							74.0	68.0	70.0					17																	59820497		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:59820497T>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.2258-2A>T	17.37:g.59820497T>A						BRIP1_uc002izl.1_Splice_Site_p.D134_splice	p.D753_splice	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			16	2399	-								Q3MJE2|Q8NCI5	Splice_Site	SNP	ENST00000259008.2	37	c.2258_splice	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266283	0.80358	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6049	0.68472	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRIP1	57175279	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	7.395000	0.79876	2.044000	0.60594	0.455000	0.32223	.		0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	Intron	18	48	0	0	0	0.008871	0	18	48				
TBC1D3P2	440452	broad.mit.edu	37	17	60348783	60348783	+	IGR	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:60348783C>T	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CACATCGGGCCCCGGATGTTC	0.552																																							uc002izq.2		NA																	0					0						c.(322-324)GGC>AGC		SubName: Full=Putative uncharacterized protein TBC1D3E;																																				SO:0001628	intergenic_variant	440452							g.chr17:60348783C>T																													17.37:g.60348783C>T						TBC1D3P2_uc010woz.1_RNA|uc010wpa.1_5'Flank	p.G108S							6	434	-									Missense_Mutation	SNP	ENST00000602932.1	37	c.322G>A		.	.	.	.	.	.	.	.	.	.	.	4.252	0.045733	0.08196	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.064020	0.64402	U	0.000008	T	0.63426	0.2510	.	.	.	.	.	.	D	0.89917	1.0	D	0.76071	0.987	T	0.66563	-0.5892	6	0.49607	T	0.09	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	108	F8WD16	.	S	108	.	ENSP00000339793:G108S	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			8	156	0	0	0	0.001855	0	8	156				
ACE	1636	broad.mit.edu	37	17	61558508	61558508	+	Missense_Mutation	SNP	G	G	A	rs139813210		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:61558508G>A	ENST00000290866.4	+	6	928	c.904G>A	c.(904-906)Gac>Aac	p.D302N	ACE_ENST00000538928.1_Missense_Mutation_p.D302N|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D302N	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	302	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	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 membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.D302N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTTTCCCAGACAAGCCCAA	0.592																																							uc002jau.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(904-906)GAC>AAC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						120.0	103.0	109.0					17																	61558508		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61558508G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.904G>A	17.37:g.61558508G>A	ENSP00000290866:p.Asp302Asn					ACE_uc010wpi.1_Missense_Mutation_p.D302N|ACE_uc010ddu.1_Missense_Mutation_p.D119N	p.D302N	NM_000789	NP_000780	P12821	ACE_HUMAN			6	926	+			302			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.904G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538136	0.27475	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.33654	1.4;1.4;1.4	4.21	2.07	0.26955	.	0.356685	0.30076	N	0.010477	T	0.19886	0.0478	N	0.25992	0.78	0.19300	N	0.999977	B;B;B	0.15719	0.006;0.001;0.014	B;B;B	0.20955	0.007;0.002;0.032	T	0.18777	-1.0326	10	0.12766	T	0.61	-17.0501	6.2407	0.20789	0.1636:0.0:0.6872:0.1492	.	302;302;302	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	N	302	ENSP00000439591:D302N;ENSP00000290866:D302N;ENSP00000397593:D302N	ENSP00000290866:D302N	D	+	1	0	ACE	58912240	0.000000	0.05858	0.996000	0.52242	0.931000	0.56810	0.470000	0.22084	0.987000	0.38709	0.561000	0.74099	GAC		0.592	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			11	157	0	0	0	0.001368	0	11	157				
SCN4A	6329	broad.mit.edu	37	17	62025295	62025295	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:62025295C>A	ENST00000435607.1	-	17	3349	c.3273G>T	c.(3271-3273)gtG>gtT	p.V1091V	SCN4A_ENST00000578147.1_Silent_p.V1091V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1091					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1091V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTGAAGTACACCTTAAAGC	0.562																																							uc002jds.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3271-3273)GTG>GTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						84.0	89.0	87.0					17																	62025295		2186	4299	6485	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62025295C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3273G>T	17.37:g.62025295C>A							p.V1091V	NM_000334	NP_000325	P35499	SCN4A_HUMAN			17	3350	-			1091			III.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3273G>T	CCDS45761.1																																																																																				0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		20	53	1	0	2.39556e-15	0.00278	4.0055e-15	20	53				
BPTF	2186	broad.mit.edu	37	17	65940369	65940369	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:65940369A>T	ENST00000321892.4	+	22	7020	c.6959A>T	c.(6958-6960)cAg>cTg	p.Q2320L	BPTF_ENST00000306378.6_Missense_Mutation_p.Q2194L|BPTF_ENST00000424123.3_Missense_Mutation_p.Q2181L|BPTF_ENST00000335221.5_Missense_Mutation_p.Q2320L|BPTF_ENST00000577770.1_3'UTR			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2320					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q2320L(1)|p.Q2194L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCCAGGCCAGCAGCTAATG	0.512																																							uc002jgf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(6580-6582)CAG>CTG		bromodomain PHD finger transcription factor							175.0	149.0	158.0					17																	65940369		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940369A>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6959A>T	17.37:g.65940369A>T	ENSP00000315454:p.Gln2320Leu					BPTF_uc002jge.2_Missense_Mutation_p.Q2320L|BPTF_uc002jgg.2_5'UTR	p.Q2194L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		20	6642	+	all_cancers(12;6e-11)		2320					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.6581A>T		.	.	.	.	.	.	.	.	.	.	A	19.77	3.889817	0.72524	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	D;T;D	0.82344	-1.6;-0.98;-1.54	5.7	5.7	0.88788	.	.	.	.	.	D	0.87390	0.6165	L	0.36672	1.1	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.83275	0.995;0.996	D	0.88823	0.3300	9	0.87932	D	0	-8.2544	15.9745	0.80049	1.0:0.0:0.0:0.0	.	2194;2320	Q12830-2;Q12830-4	.;.	L	2194;2320;2320	ENSP00000307208:Q2194L;ENSP00000334351:Q2320L;ENSP00000315454:Q2320L	ENSP00000307208:Q2194L	Q	+	2	0	BPTF	63370831	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.281000	0.95811	2.168000	0.68352	0.533000	0.62120	CAG		0.512	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		87	153	0	0	0	0.00361	0	87	153				
SLC16A6	9120	broad.mit.edu	37	17	66267479	66267479	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:66267479G>T	ENST00000327268.4	-	6	986	c.822C>A	c.(820-822)ccC>ccA	p.P274P	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.P274P	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	274					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.P274P(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CGCTTGGCCTGGGGCTGGTCT	0.458																																							uc002jgz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)CCC>CCA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						77.0	76.0	76.0					17																	66267479		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267479G>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.822C>A	17.37:g.66267479G>T						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.P274P	p.P274P	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1010	-	all_cancers(12;1.24e-09)		274			Cytoplasmic (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.822C>A	CCDS11675.1																																																																																				0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		8	136	1	0	0.00621372	0.006214	0.00654636	8	136				
ABCA9	10350	broad.mit.edu	37	17	66980199	66980199	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:66980199C>A	ENST00000340001.4	-	35	4708	c.4497G>T	c.(4495-4497)ctG>ctT	p.L1499L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.L1461L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1499	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1499L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACTCACCTCAGCCTTCCTG	0.592																																							uc002jhu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4495-4497)CTG>CTT		ATP-binding cassette, sub-family A, member 9							87.0	76.0	80.0					17																	66980199		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66980199C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4497G>T	17.37:g.66980199C>A						ABCA9_uc010dez.2_Silent_p.L1461L	p.L1499L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			35	4640	-	Breast(10;1.47e-12)		1499			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4497G>T	CCDS11681.1																																																																																				0.592	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		30	78	1	0	8.73648e-17	0.004289	1.49899e-16	30	78				
KCNJ2	3759	broad.mit.edu	37	17	68171958	68171958	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:68171958C>G	ENST00000243457.3	+	2	1161	c.778C>G	c.(778-780)Cgt>Ggt	p.R260G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R260G	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	260					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.R260G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGGAATCGATCGTATATTTCT	0.403																																							uc010dfg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(778-780)CGT>GGT		potassium inwardly-rectifying channel J2							114.0	113.0	114.0					17																	68171958		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171958C>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.778C>G	17.37:g.68171958C>G	ENSP00000243457:p.Arg260Gly					KCNJ2_uc002jir.2_Missense_Mutation_p.R260G	p.R260G	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1179	+	Breast(10;1.64e-08)		260			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.778C>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132326	0.37630	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94497	-3.44;-3.44	6.07	6.07	0.98685	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	M	0.89534	3.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.97873	1.0287	9	.	.	.	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	260	P63252	IRK2_HUMAN	G	260	ENSP00000441848:R260G;ENSP00000243457:R260G	.	R	+	1	0	KCNJ2	65683553	1.000000	0.71417	0.998000	0.56505	0.485000	0.33311	4.765000	0.62271	2.885000	0.99019	0.655000	0.94253	CGT		0.403	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		9	163	0	0	0	0.004482	0	9	163				
TTYH2	94015	broad.mit.edu	37	17	72218757	72218757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:72218757G>T	ENST00000269346.4	+	2	337	c.263G>T	c.(262-264)tGc>tTc	p.C88F	TTYH2_ENST00000529107.1_Missense_Mutation_p.C67F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	88						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.C88F(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CACTCCTGCTGCATCACCTGG	0.642																																							uc002jkc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(262-264)TGC>TTC		tweety 2 isoform 1							78.0	63.0	68.0					17																	72218757		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72218757G>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.263G>T	17.37:g.72218757G>T	ENSP00000269346:p.Cys88Phe					TTYH2_uc010wqw.1_Missense_Mutation_p.C67F	p.C88F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			2	294	+			88			Helical; Name=2; (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.263G>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382521	0.82792	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.18338	2.22;2.22	5.05	5.05	0.67936	.	0.108792	0.64402	D	0.000004	T	0.50154	0.1599	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60063	-0.7336	10	0.87932	D	0	-28.8784	17.5539	0.87885	0.0:0.0:1.0:0.0	.	67;88	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	88;67	ENSP00000269346:C88F;ENSP00000433089:C67F	ENSP00000269346:C88F	C	+	2	0	TTYH2	69730352	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	9.055000	0.93873	2.493000	0.84123	0.655000	0.94253	TGC		0.642	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			8	101	1	0	1.12685e-05	0.004482	1.34403e-05	8	101				
AFMID	125061	broad.mit.edu	37	17	76202119	76202119	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:76202119C>T	ENST00000327898.5	+	10	897	c.888C>T	c.(886-888)aaC>aaT	p.N296N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000409257.5_Silent_p.N291N|AFMID_ENST00000591952.1_Intron					arylformamidase									p.N296N(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGAAGGACAACGTGCTCACCC	0.542																																							uc002jva.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(871-873)AAC>AAT		arylformamidase isoform 1							73.0	63.0	66.0					17																	76202119		2203	4300	6503	SO:0001819	synonymous_variant	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76202119C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.888C>T	17.37:g.76202119C>T						AFMID_uc002jvb.3_3'UTR|AFMID_uc002juz.3_Silent_p.N296N	p.N291N	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		10	888	+			291						Silent	SNP	ENST00000327898.5	37	c.873C>T	CCDS45801.1																																																																																				0.542	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		30	47	0	0	0	0.009535	0	30	47				
CEP131	22994	broad.mit.edu	37	17	79177294	79177294	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:79177294T>C	ENST00000269392.4	-	6	876	c.629A>G	c.(628-630)aAc>aGc	p.N210S	AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000374782.3_Splice_Site_p.N210S|AZI1_ENST00000575907.1_Splice_Site_p.N210S|AZI1_ENST00000450824.2_Splice_Site_p.N210S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		210					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.N210S(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGACCTTACTTGAGGGAGGG	0.667																																							uc002jzp.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(628-630)AAC>AGC		5-azacytidine induced 1 isoform a							36.0	28.0	31.0					17																	79177294		2197	4298	6495	SO:0001630	splice_region_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79177294T>C																												ENST00000269392.4:c.629+1A>G	17.37:g.79177294T>C						AZI1_uc002jzn.1_Missense_Mutation_p.N210S|AZI1_uc002jzo.1_Missense_Mutation_p.N210S|AZI1_uc010wum.1_Missense_Mutation_p.N210S	p.N210S	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		6	829	-	all_neural(118;0.0804)|Melanoma(429;0.242)		210					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.629A>G		.	.	.	.	.	.	.	.	.	.	T	22.8	4.337381	0.81911	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.36699	1.26;1.25;1.24	5.19	5.19	0.71726	.	0.000000	0.85682	U	0.000000	T	0.58075	0.2097	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.996;0.996;0.999;0.994	T	0.58918	-0.7551	9	.	.	.	-35.2348	15.0281	0.71684	0.0:0.0:0.0:1.0	.	210;210;210;210	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	210	ENSP00000393583:N210S;ENSP00000363914:N210S;ENSP00000269392:N210S	.	N	-	2	0	AZI1	76791889	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	7.127000	0.77210	1.959000	0.56917	0.523000	0.50628	AAC		0.667	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		Missense_Mutation	6	14	0	0	0	0.00308	0	6	14				
LAMA1	284217	broad.mit.edu	37	18	6961756	6961756	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:6961756G>T	ENST00000389658.3	-	53	7548	c.7455C>A	c.(7453-7455)ccC>ccA	p.P2485P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2485					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.P2485P(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)				CACTCCGGATGGGCTGGACAC	0.507																																							uc002knm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7453-7455)CCC>CCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						54.0	49.0	51.0					18																	6961756		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:6961756G>T	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.7455C>A	18.37:g.6961756G>T						LAMA1_uc002knl.2_Intron|LAMA1_uc010wzj.1_Silent_p.P1961P	p.P2485P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			53	7549	-		Colorectal(10;0.172)	2485						Silent	SNP	ENST00000389658.3	37	c.7455C>A	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	35	1	0	0.000274275	0.004482	0.000306341	7	35				
LAMA1	284217	broad.mit.edu	37	18	6966160	6966160	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:6966160C>A	ENST00000389658.3	-	49	7129	c.7036G>T	c.(7036-7038)Ggt>Tgt	p.G2346C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2346	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G2346C(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)				CCGTATGAACCCAGGTAGAGA	0.438																																							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.(7036-7038)GGT>TGT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	59.0	63.0					18																	6966160		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.chr18:6966160C>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.7036G>T	18.37:g.6966160C>A	ENSP00000374309:p.Gly2346Cys					LAMA1_uc002knl.2_5'Flank|LAMA1_uc010wzj.1_Missense_Mutation_p.G1822C	p.G2346C	NM_005559	NP_005550	P25391	LAMA1_HUMAN			49	7130	-		Colorectal(10;0.172)	2346			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7036G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541576	0.45280	.	.	ENSG00000101680	ENST00000389658	D	0.83163	-1.69	5.8	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.132700	0.47852	D	0.000205	D	0.88198	0.6372	M	0.83692	2.655	0.34450	D	0.700623	P	0.47545	0.897	P	0.52343	0.696	D	0.93193	0.6585	10	0.87932	D	0	.	12.9316	0.58290	0.0:0.8672:0.0:0.1328	.	2346	P25391	LAMA1_HUMAN	C	2346	ENSP00000374309:G2346C	ENSP00000374309:G2346C	G	-	1	0	LAMA1	6956160	0.978000	0.34361	0.989000	0.46669	0.030000	0.12068	2.142000	0.42177	1.470000	0.48102	0.563000	0.77884	GGT		0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		9	34	1	0	3.86212e-05	0.008291	4.46834e-05	9	34				
LAMA1	284217	broad.mit.edu	37	18	7079972	7079972	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:7079972A>G	ENST00000389658.3	-	3	439		c.e3+1		RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						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.?(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)				GGGCTCACCTACCTGTCTTAA	0.468																																							uc002knm.2		NA																	1	Unknown(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.e3+1		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						168.0	125.0	140.0					18																	7079972		2203	4300	6503	SO:0001630	splice_region_variant	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.chr18:7079972A>G	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.345+1T>C	18.37:g.7079972A>G						LAMA1_uc010wzj.1_Splice_Site	p.Q115_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN			3	439	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37	c.345_splice	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253384	0.80135	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8024	0.78463	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7069972	1.000000	0.71417	0.964000	0.40570	0.878000	0.50629	8.962000	0.93254	2.143000	0.66587	0.533000	0.62120	.		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	13	77	0	0	0	0.004007	0	13	77				
MTCL1	23255	broad.mit.edu	37	18	8824925	8824925	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:8824925G>T	ENST00000306329.11	+	13	4374	c.4374G>T	c.(4372-4374)ggG>ggT	p.G1458G	SOGA2_ENST00000359865.3_Silent_p.G1139G|SOGA2_ENST00000517570.1_Silent_p.G1098G|SOGA2_ENST00000518815.1_Silent_p.G464G|SOGA2_ENST00000306285.7_Silent_p.G464G|SOGA2_ENST00000400050.3_Silent_p.G1098G														p.G1139G(1)									CCGAGGTGGGGCGGGCAGGGC	0.617																																							uc002knr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3415-3417)GGG>GGT		hypothetical protein LOC23255							68.0	60.0	63.0					18																	8824925		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8824925G>T																												ENST00000306329.11:c.4374G>T	18.37:g.8824925G>T						KIAA0802_uc002knq.2_Silent_p.G1098G|KIAA0802_uc002kns.2_Silent_p.G479G	p.G1139G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3559	+			1449						Silent	SNP	ENST00000306329.11	37	c.3417G>T																																																																																					0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			27	106	1	0	3.73988e-18	0.00632	6.56565e-18	27	106				
NAPG	8774	broad.mit.edu	37	18	10548349	10548349	+	Silent	SNP	A	A	G	rs372889692		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:10548349A>G	ENST00000322897.6	+	10	708	c.639A>G	c.(637-639)gcA>gcG	p.A213A	NAPG_ENST00000542979.1_Silent_p.A131A	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	213					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.A213A(1)		large_intestine(2)|lung(2)	4						ATGTAGCTGCAGAAAGATGTG	0.413																																							uc002kon.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)GCA>GCG		N-ethylmaleimide-sensitive factor attachment		A		0,4260		0,0,2130	157.0	167.0	163.0		639	-6.6	0.9	18		163	1,8517		0,1,4258	no	coding-synonymous	NAPG	NM_003826.2		0,1,6388	GG,GA,AA		0.0117,0.0,0.0078		213/313	10548349	1,12777	2130	4259	6389	SO:0001819	synonymous_variant	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10548349A>G	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.639A>G	18.37:g.10548349A>G						NAPG_uc010wzr.1_Silent_p.A131A|NAPG_uc002koo.2_Silent_p.A126A|NAPG_uc002kop.2_Silent_p.A126A	p.A213A	NM_003826	NP_003817	Q99747	SNAG_HUMAN			10	866	+			213					B4DFC9|Q9BUV1	Silent	SNP	ENST00000322897.6	37	c.639A>G	CCDS45827.1																																																																																				0.413	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		18	117	0	0	0	0.010504	0	18	117				
ZNF521	25925	broad.mit.edu	37	18	22806833	22806833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22806833C>A	ENST00000361524.3	-	4	1197	c.1049G>T	c.(1048-1050)gGc>gTc	p.G350V	ZNF521_ENST00000538137.2_Missense_Mutation_p.G350V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.G130V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	350					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.G350V(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)					GGAGGTATAGCCCACCGTGAC	0.562			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.(1048-1050)GGC>GTC		zinc finger protein 521							96.0	89.0	91.0					18																	22806833		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.chr18:22806833C>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.1049G>T	18.37:g.22806833C>A	ENSP00000354794:p.Gly350Val					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G350V|ZNF521_uc002kvl.2_Missense_Mutation_p.G130V	p.G350V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1296	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		350					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1049G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703356	0.30232	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08896	3.04;3.06	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.26155	-1.0111	10	0.56958	D	0.05	-32.1778	20.8794	0.99867	0.0:1.0:0.0:0.0	.	350	Q96K83	ZN521_HUMAN	V	350;384;350	ENSP00000354794:G350V;ENSP00000382352:G350V	ENSP00000354794:G350V	G	-	2	0	ZNF521	21060831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GGC		0.562	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		15	69	1	0	6.72482e-11	0.003163	9.9582e-11	15	69				
ZNF521	25925	broad.mit.edu	37	18	22807008	22807008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22807008C>A	ENST00000361524.3	-	4	1022	c.874G>T	c.(874-876)Gag>Tag	p.E292*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E292*|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E72*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	292					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.E292*(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)					GAGGTCTCCTCTACGAAGAGC	0.537			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(874-876)GAG>TAG		zinc finger protein 521							104.0	99.0	101.0					18																	22807008		2203	4300	6503	SO:0001587	stop_gained	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.chr18:22807008C>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.874G>T	18.37:g.22807008C>A	ENSP00000354794:p.Glu292*					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E292*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E72*	p.E292*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1121	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		292			C2H2-type 7.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.874G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988944	0.93106	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	6.02	6.02	0.97574	.	0.100369	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-36.9568	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	292;326;292	.	ENSP00000354794:E292X	E	-	1	0	ZNF521	21061006	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GAG		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		12	67	1	0	0.000219431	0.00245	0.00024719	12	67				
ZNF521	25925	broad.mit.edu	37	18	22807248	22807248	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22807248G>T	ENST00000361524.3	-	4	782	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ZNF521_ENST00000538137.2_Missense_Mutation_p.L212M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_De_novo_Start_InFrame	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					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.L212M(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)					CTAGAGGACAGAAACCCACGG	0.488			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.(634-636)CTG>ATG		zinc finger protein 521							91.0	84.0	87.0					18																	22807248		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.chr18:22807248G>T	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.634C>A	18.37:g.22807248G>T	ENSP00000354794:p.Leu212Met					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L212M|ZNF521_uc002kvl.2_Translation_Start_Site	p.L212M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	881	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		212			C2H2-type 5.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.634C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515459	0.12944	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08896	3.04;3.04	5.98	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144445	0.47093	D	0.000259	T	0.16727	0.0402	L	0.31926	0.97	0.28680	N	0.905174	D	0.69078	0.997	D	0.68943	0.961	T	0.02654	-1.1128	10	0.45353	T	0.12	-20.2669	11.239	0.48958	0.1392:0.0:0.8608:0.0	.	212	Q96K83	ZN521_HUMAN	M	212;246;212	ENSP00000354794:L212M;ENSP00000382352:L212M	ENSP00000354794:L212M	L	-	1	2	ZNF521	21061246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.379000	0.73154	1.547000	0.49401	-0.136000	0.14681	CTG		0.488	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	55	1	0	0.00198382	0.001984	0.00212876	7	55				
CDH2	1000	broad.mit.edu	37	18	25532249	25532249	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:25532249A>T	ENST00000269141.3	-	16	3012	c.2589T>A	c.(2587-2589)agT>agA	p.S863R	CDH2_ENST00000399380.3_Missense_Mutation_p.S832R|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	863	Ser-rich.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.S863R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGGAGCCACTGCCTTCAT	0.502											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002kwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(2587-2589)AGT>AGA		cadherin 2, type 1 preproprotein							103.0	99.0	100.0					18																	25532249		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25532249A>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2589T>A	18.37:g.25532249A>T	ENSP00000269141:p.Ser863Arg		OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	779	CDH2_uc010xbn.1_Missense_Mutation_p.S832R	p.S863R	NM_001792	NP_001783	P19022	CADH2_HUMAN			16	3048	-			863			Ser-rich.|Cytoplasmic (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.2589T>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897295	0.52121	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.75821	-0.97;-0.97	5.67	-2.14	0.07123	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	L	0.42632	1.34	0.51233	D	0.999915	D;D	0.76494	0.999;0.999	D;D	0.87578	0.987;0.998	T	0.73880	-0.3843	10	0.36615	T	0.2	.	13.6515	0.62314	0.4704:0.0:0.5296:0.0	.	832;863	A8MWK3;P19022	.;CADH2_HUMAN	R	863;832	ENSP00000269141:S863R;ENSP00000382312:S832R	ENSP00000269141:S863R	S	-	3	2	CDH2	23786247	0.603000	0.26924	0.992000	0.48379	0.984000	0.73092	-0.037000	0.12164	-0.360000	0.08138	0.482000	0.46254	AGT		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		18	83	0	0	0	0.008871	0	18	83				
DSC2	1824	broad.mit.edu	37	18	28662236	28662236	+	Nonsense_Mutation	SNP	T	T	A	rs560482778		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28662236T>A	ENST00000280904.6	-	9	1674	c.1231A>T	c.(1231-1233)Aaa>Taa	p.K411*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.K411*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	411	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K411*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATTGGTTTTGGCATCTGTT	0.299																																							uc002kwl.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1231-1233)AAA>TAA		desmocollin 2 isoform Dsc2a preproprotein							83.0	87.0	86.0					18																	28662236		2202	4295	6497	SO:0001587	stop_gained	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662236T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1231A>T	18.37:g.28662236T>A	ENSP00000280904:p.Lys411*					DSC2_uc002kwk.3_Nonsense_Mutation_p.K411*	p.K411*	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1685	-			411			Extracellular (Potential).|Cadherin 3.			Nonsense_Mutation	SNP	ENST00000280904.6	37	c.1231A>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	35	5.479043	0.96307	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	.	.	.	5.69	-3.71	0.04424	.	0.507896	0.14724	N	0.302174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	11.405	0.49892	0.0:0.0637:0.5682:0.3681	.	.	.	.	X	411;411;177;424	.	ENSP00000251081:K411X	K	-	1	0	DSC2	26916234	0.000000	0.05858	0.018000	0.16275	0.961000	0.63080	-1.145000	0.03194	-0.910000	0.03847	-0.323000	0.08544	AAA		0.299	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		10	43	0	0	0	0.008291	0	10	43				
DSG1	1828	broad.mit.edu	37	18	28916564	28916564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28916564C>T	ENST00000257192.4	+	9	1465	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|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)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.S418L(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGTAGACCTTCAACGACTGTT	0.333																																							uc002kwp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1252-1254)TCA>TTA		desmoglein 1 preproprotein							76.0	71.0	73.0					18																	28916564		2203	4299	6502	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916564C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1253C>T	18.37:g.28916564C>T	ENSP00000257192:p.Ser418Leu						p.S418L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1465	+			418			Extracellular (Potential).|Cadherin 4.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1253C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058473	0.55325	.	.	ENSG00000134760	ENST00000257192	T	0.61859	0.07	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.126122	0.36444	N	0.002587	T	0.63965	0.2556	M	0.77820	2.39	0.80722	D	1	B	0.28350	0.208	B	0.32465	0.146	T	0.65088	-0.6253	10	0.56958	D	0.05	.	17.3559	0.87335	0.0:1.0:0.0:0.0	.	418	Q02413	DSG1_HUMAN	L	418	ENSP00000257192:S418L	ENSP00000257192:S418L	S	+	2	0	DSG1	27170562	1.000000	0.71417	0.994000	0.49952	0.336000	0.28762	5.649000	0.67936	2.621000	0.88768	0.563000	0.77884	TCA		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		13	64	0	0	0	0.004007	0	13	64				
DSG1	1828	broad.mit.edu	37	18	28918286	28918286	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28918286T>C	ENST00000257192.4	+	10	1486	c.1274T>C	c.(1273-1275)aTg>aCg	p.M425T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|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)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.M425T(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGTATGTAATGGGAAATAAT	0.303																																							uc002kwp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1273-1275)ATG>ACG		desmoglein 1 preproprotein							55.0	53.0	54.0					18																	28918286		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28918286T>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1274T>C	18.37:g.28918286T>C	ENSP00000257192:p.Met425Thr						p.M425T	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		10	1486	+			425			Extracellular (Potential).|Cadherin 4.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1274T>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592488	0.28357	.	.	ENSG00000134760	ENST00000257192	T	0.56941	0.43	5.87	5.87	0.94306	Cadherin (3);Cadherin-like (1);	0.097992	0.56097	D	0.000036	T	0.56124	0.1964	M	0.81239	2.535	0.80722	D	1	B	0.22211	0.066	B	0.26310	0.068	T	0.56589	-0.7954	10	0.45353	T	0.12	.	11.3683	0.49686	0.1352:0.0:0.0:0.8648	.	425	Q02413	DSG1_HUMAN	T	425	ENSP00000257192:M425T	ENSP00000257192:M425T	M	+	2	0	DSG1	27172284	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.083000	0.50136	2.253000	0.74438	0.533000	0.62120	ATG		0.303	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		9	51	0	0	0	0.008291	0	9	51				
DSG3	1830	broad.mit.edu	37	18	29055792	29055792	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29055792G>T	ENST00000257189.4	+	16	2652	c.2569G>T	c.(2569-2571)Gca>Tca	p.A857S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	857					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A857S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAAAAACTTGCAGAGATAAG	0.473																																							uc002kws.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2569-2571)GCA>TCA		desmoglein 3 preproprotein							106.0	104.0	104.0					18																	29055792		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055792G>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2569G>T	18.37:g.29055792G>T	ENSP00000257189:p.Ala857Ser					DSG3_uc002kwt.2_Missense_Mutation_p.A139S	p.A857S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2678	+			857			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2569G>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532708	0.85812	.	.	ENSG00000134757	ENST00000257189	D	0.87412	-2.25	5.84	5.84	0.93424	Cadherin, cytoplasmic domain (1);	0.125815	0.35291	N	0.003304	D	0.93913	0.8052	M	0.78916	2.43	0.45205	D	0.998214	D	0.89917	1.0	D	0.97110	1.0	D	0.93864	0.7156	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	857	P32926	DSG3_HUMAN	S	857	ENSP00000257189:A857S	ENSP00000257189:A857S	A	+	1	0	DSG3	27309790	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	7.159000	0.77483	2.779000	0.95612	0.655000	0.94253	GCA		0.473	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		13	106	1	0	0.000151284	0.001855	0.0001717	13	106				
DSG2	1829	broad.mit.edu	37	18	29125888	29125888	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29125888A>T	ENST00000261590.8	+	15	2748	c.2539A>T	c.(2539-2541)Ata>Tta	p.I847L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	847					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.I847L(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)			AAAAATAGATATAAATAAGGA	0.373																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2539-2541)ATA>TTA		desmoglein 2 preproprotein							70.0	70.0	70.0					18																	29125888		1815	4081	5896	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125888A>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.2539A>T	18.37:g.29125888A>T	ENSP00000261590:p.Ile847Leu					uc002kwv.3_Intron	p.I847L	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2727	+			847			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2539A>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317946	0.40996	.	.	ENSG00000046604	ENST00000261590	T	0.57752	0.38	5.99	2.09	0.27110	.	1.122620	0.06578	N	0.749711	T	0.26702	0.0653	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25293	-1.0136	10	0.08179	T	0.78	.	3.4355	0.07444	0.6496:0.1403:0.0754:0.1348	.	847	Q14126	DSG2_HUMAN	L	847	ENSP00000261590:I847L	ENSP00000261590:I847L	I	+	1	0	DSG2	27379886	0.001000	0.12720	0.002000	0.10522	0.540000	0.34992	1.084000	0.30828	0.494000	0.27859	0.533000	0.62120	ATA		0.373	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		21	105	0	0	0	0.010504	0	21	105				
DSG2	1829	broad.mit.edu	37	18	29125986	29125986	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29125986G>C	ENST00000261590.8	+	15	2846	c.2637G>C	c.(2635-2637)gaG>gaC	p.E879D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	879					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.E879D(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)			TTAATTCAGAGAATACCTACT	0.393																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2635-2637)GAG>GAC		desmoglein 2 preproprotein							71.0	69.0	70.0					18																	29125986		1863	4101	5964	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125986G>C	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.2637G>C	18.37:g.29125986G>C	ENSP00000261590:p.Glu879Asp					uc002kwv.3_Intron	p.E879D	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2825	+			879			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2637G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252748	0.39797	.	.	ENSG00000046604	ENST00000261590	T	0.60548	0.18	5.9	2.88	0.33553	.	0.414424	0.22929	N	0.053934	T	0.48960	0.1529	L	0.55990	1.75	0.27302	N	0.957554	P	0.46395	0.877	B	0.40741	0.339	T	0.46610	-0.9179	10	0.54805	T	0.06	.	7.733	0.28797	0.3801:0.0:0.6199:0.0	.	879	Q14126	DSG2_HUMAN	D	879	ENSP00000261590:E879D	ENSP00000261590:E879D	E	+	3	2	DSG2	27379984	0.997000	0.39634	0.076000	0.20297	0.042000	0.13812	1.360000	0.34125	0.756000	0.33013	0.591000	0.81541	GAG		0.393	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		16	112	0	0	0	0.006122	0	16	112				
CCDC178	374864	broad.mit.edu	37	18	30926193	30926193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:30926193G>A	ENST00000383096.3	-	9	822	c.640C>T	c.(640-642)Cca>Tca	p.P214S	CCDC178_ENST00000402325.1_Missense_Mutation_p.P214S|CCDC178_ENST00000403303.1_Missense_Mutation_p.P214S|CCDC178_ENST00000406524.2_Missense_Mutation_p.P214S|CCDC178_ENST00000583930.1_Missense_Mutation_p.P214S|CCDC178_ENST00000579947.1_Missense_Mutation_p.P214S|CCDC178_ENST00000300227.8_Missense_Mutation_p.P214S|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	214								p.P214S(2)									ACAGCCAATGGGAGTTCTTGA	0.348																																							uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(640-642)CCA>TCA		hypothetical protein LOC374864 isoform 1							108.0	108.0	108.0					18																	30926193		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926193G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.640C>T	18.37:g.30926193G>A	ENSP00000372576:p.Pro214Ser					C18orf34_uc010xbr.1_Missense_Mutation_p.P214S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.P214S|C18orf34_uc002kxp.2_Missense_Mutation_p.P214S	p.P214S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	782	-			214					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.640C>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177398	0.21787	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.63913	1.21;1.21;1.21;1.23;1.21;-0.07	5.59	5.59	0.84812	.	.	.	.	.	T	0.76256	0.3962	L	0.57536	1.79	0.39336	D	0.965496	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.994	T	0.76961	-0.2765	9	0.49607	T	0.09	-11.9457	16.5129	0.84290	0.0:0.0:1.0:0.0	.	214;214;214;214	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	S	214	ENSP00000385591:P214S;ENSP00000372576:P214S;ENSP00000300227:P214S;ENSP00000385867:P214S;ENSP00000385234:P214S;ENSP00000382130:P214S	ENSP00000300227:P214S	P	-	1	0	C18orf34	29180191	1.000000	0.71417	0.959000	0.39883	0.580000	0.36256	5.859000	0.69539	2.636000	0.89361	0.557000	0.71058	CCA		0.348	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		10	96	0	0	0	0.000978	0	10	96				
CCDC178	374864	broad.mit.edu	37	18	30928890	30928890	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:30928890T>A	ENST00000383096.3	-	8	603	c.421A>T	c.(421-423)Aca>Tca	p.T141S	CCDC178_ENST00000402325.1_Missense_Mutation_p.T141S|CCDC178_ENST00000403303.1_Missense_Mutation_p.T141S|CCDC178_ENST00000406524.2_Missense_Mutation_p.T141S|CCDC178_ENST00000583930.1_Missense_Mutation_p.T141S|CCDC178_ENST00000579947.1_Missense_Mutation_p.T141S|CCDC178_ENST00000300227.8_Missense_Mutation_p.T141S|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	141								p.T141S(2)									TTCACTGGTGTAGTTACACTC	0.338																																							uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(421-423)ACA>TCA		hypothetical protein LOC374864 isoform 1							145.0	124.0	131.0					18																	30928890		2203	4298	6501	SO:0001583	missense	374864							g.chr18:30928890T>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.421A>T	18.37:g.30928890T>A	ENSP00000372576:p.Thr141Ser					C18orf34_uc010xbr.1_Missense_Mutation_p.T141S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.T141S|C18orf34_uc002kxp.2_Missense_Mutation_p.T141S	p.T141S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			7	563	-			141					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.421A>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	7.486	0.649747	0.14516	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.45276	2.48;2.48;2.48;2.48;2.48;0.9	4.24	-0.653	0.11447	.	.	.	.	.	T	0.24275	0.0588	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.26809	0.16;0.01;0.005;0.01	B;B;B;B	0.25291	0.059;0.005;0.003;0.003	T	0.27502	-1.0072	9	0.13853	T	0.58	-0.1398	7.5218	0.27633	0.0:0.541:0.0:0.459	.	141;141;141;141	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	S	141	ENSP00000385591:T141S;ENSP00000372576:T141S;ENSP00000300227:T141S;ENSP00000385867:T141S;ENSP00000385234:T141S;ENSP00000382130:T141S	ENSP00000300227:T141S	T	-	1	0	C18orf34	29182888	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.669000	0.05262	-0.104000	0.12154	0.533000	0.62120	ACA		0.338	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		6	49	0	0	0	0.00308	0	6	49				
ASXL3	80816	broad.mit.edu	37	18	31325263	31325263	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:31325263A>T	ENST00000269197.5	+	12	5451	c.5451A>T	c.(5449-5451)ccA>ccT	p.P1817P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1817					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.P1817P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGGCACCACTCCAAATGA	0.478																																							uc010dmg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5449-5451)CCA>CCT		additional sex combs like 3							126.0	128.0	127.0					18																	31325263		1926	4119	6045	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325263A>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.5451A>T	18.37:g.31325263A>T						ASXL3_uc002kxq.2_Silent_p.P1524P	p.P1817P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5506	+			1817					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5451A>T	CCDS45847.1																																																																																				0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			37	220	0	0	0	0.00874	0	37	220				
DTNA	1837	broad.mit.edu	37	18	32459515	32459515	+	Splice_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:32459515A>T	ENST00000399113.3	+	19	1913	c.1913A>T	c.(1912-1914)gAg>gTg	p.E638V	DTNA_ENST00000590831.2_Splice_Site_p.E64V|DTNA_ENST00000399121.5_Splice_Site_p.E585V|DTNA_ENST00000598334.1_Splice_Site_p.E578V|DTNA_ENST00000601125.1_Splice_Site_p.E260V|DTNA_ENST00000283365.9_Splice_Site_p.E581V|DTNA_ENST00000591182.1_Splice_Site_p.E286V|DTNA_ENST00000399097.3_Splice_Site_p.E286V|DTNA_ENST00000269192.7_Splice_Site_p.E347V|DTNA_ENST00000595022.1_Splice_Site_p.E578V|DTNA_ENST00000444659.1_Splice_Site_p.E638V|DTNA_ENST00000598142.1_Splice_Site_p.E581V|DTNA_ENST00000556414.3_Splice_Site_p.E290V|DTNA_ENST00000269190.7_Splice_Site_p.E639V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	638					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E286V(1)|p.E638V(1)|p.E639V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TATCTGCTAGAGGTTGGGAGT	0.398																																							uc010dmn.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1912-1914)GAG>GTG		dystrobrevin alpha isoform 1							79.0	72.0	75.0					18																	32459515		2203	4300	6503	SO:0001630	splice_region_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459515A>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1913-1A>T	18.37:g.32459515A>T						DTNA_uc002kxw.2_Missense_Mutation_p.E581V|DTNA_uc010dmj.2_Missense_Mutation_p.E578V|DTNA_uc002kxz.2_Missense_Mutation_p.E585V|DTNA_uc002kxy.2_Missense_Mutation_p.E578V|DTNA_uc010xby.1_Missense_Mutation_p.E328V|DTNA_uc010xbz.1_Missense_Mutation_p.E347V|DTNA_uc010xca.1_Missense_Mutation_p.E290V|DTNA_uc002kye.2_Missense_Mutation_p.E286V	p.E638V	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			19	1914	+			638					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1913A>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989898	0.54041	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.26223	1.78;1.75;1.75;1.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.31926	0.97	0.80722	D	1	D;D;P;D;B;D;B;B;B	0.89917	1.0;0.975;0.916;0.96;0.006;0.987;0.001;0.01;0.006	D;P;B;P;B;P;B;B;B	0.87578	0.998;0.804;0.405;0.664;0.011;0.799;0.002;0.005;0.011	T	0.08249	-1.0731	9	.	.	.	.	14.3205	0.66484	1.0:0.0:0.0:0.0	.	290;347;328;638;581;286;585;589;581	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	V	581;581;585;639;286;638;638;638;347;286;290	ENSP00000283365:E581V;ENSP00000269190:E639V;ENSP00000405819:E638V;ENSP00000382064:E638V	.	E	+	2	0	DTNA	30713513	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	7.560000	0.82277	2.188000	0.69820	0.533000	0.62120	GAG		0.398	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	Missense_Mutation	6	54	0	0	0	0.001984	0	6	54				
ELP2	55250	broad.mit.edu	37	18	33724961	33724961	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:33724961G>T	ENST00000358232.6	+	9	919	c.856G>T	c.(856-858)Gta>Tta	p.V286L	ELP2_ENST00000442325.2_Missense_Mutation_p.V351L|ELP2_ENST00000351393.6_Missense_Mutation_p.V260L|ELP2_ENST00000350494.6_Missense_Mutation_p.V325L|ELP2_ENST00000542824.1_Missense_Mutation_p.V260L|ELP2_ENST00000423854.2_Missense_Mutation_p.V216L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	286					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.V286L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGAAAACTGGGTAAATGCAGT	0.398																																							uc002kzk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(856-858)GTA>TTA		elongator protein 2							136.0	130.0	132.0					18																	33724961		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33724961G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.856G>T	18.37:g.33724961G>T	ENSP00000350967:p.Val286Leu					ELP2_uc010xcg.1_Missense_Mutation_p.V351L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.V260L|ELP2_uc010xch.1_Missense_Mutation_p.V325L|ELP2_uc002kzn.1_Missense_Mutation_p.V260L|ELP2_uc002kzo.1_Missense_Mutation_p.V216L	p.V286L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			9	866	+			286			WD 6.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.856G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680518	0.88542	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.055093	0.64402	D	0.000001	D	0.83801	0.5333	M	0.78285	2.405	0.58432	D	0.999999	D;D;D;D;D;D	0.69078	0.981;0.981;0.975;0.995;0.997;0.981	P;P;P;P;D;P	0.64687	0.859;0.859;0.822;0.902;0.928;0.859	D	0.84581	0.0661	10	0.56958	D	0.05	-18.4501	10.9166	0.47139	0.0845:0.0:0.9155:0.0	.	325;351;216;260;260;286	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	286;260;351;216;325;260	ENSP00000350967:V286L;ENSP00000257191:V260L;ENSP00000414851:V351L;ENSP00000391202:V216L;ENSP00000316051:V325L;ENSP00000443800:V260L	ENSP00000316051:V325L	V	+	1	0	ELP2	31978959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.215000	0.77966	2.751000	0.94390	0.555000	0.69702	GTA		0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		21	98	1	0	3.5997e-14	0.002299	5.85472e-14	21	98				
SYT4	6860	broad.mit.edu	37	18	40853820	40853820	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:40853820G>T	ENST00000255224.3	-	2	942	c.574C>A	c.(574-576)Cca>Aca	p.P192T	SYT4_ENST00000590752.1_Missense_Mutation_p.P174T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	192	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P192T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGATATATGGGTCAGAGGTC	0.433																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)	5						c.(574-576)CCA>ACA		synaptotagmin IV							81.0	79.0	80.0					18																	40853820		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853820G>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.574C>A	18.37:g.40853820G>T	ENSP00000255224:p.Pro192Thr					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.P174T|SYT4_uc010dnh.2_Intron	p.P192T	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	943	-			192			Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.574C>A	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378281	0.82682	.	.	ENSG00000132872	ENST00000255224	T	0.76839	-1.05	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90735	0.4645	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	174;192	B4DEU3;Q9H2B2	.;SYT4_HUMAN	T	192	ENSP00000255224:P192T	ENSP00000255224:P192T	P	-	1	0	SYT4	39107818	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.751000	0.98889	2.941000	0.99782	0.655000	0.94253	CCA		0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		7	79	1	0	0.00307968	0.00308	0.00327966	7	79				
SETBP1	26040	broad.mit.edu	37	18	42643085	42643085	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:42643085G>C	ENST00000282030.5	+	6	4509	c.4213G>C	c.(4213-4215)Gaa>Caa	p.E1405Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1405						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E1351Q(1)|p.E1405Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGGGAGATCGAAGCCATCCA	0.547									Schinzel-Giedion syndrome																														uc010dni.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(4213-4215)GAA>CAA		SET binding protein 1 isoform a							49.0	47.0	48.0					18																	42643085		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643085G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4213G>C	18.37:g.42643085G>C	ENSP00000282030:p.Glu1405Gln						p.E1405Q	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4509	+			1405					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4213G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044510	0.93685	.	.	ENSG00000152217	ENST00000282030	D	0.82255	-1.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	L	0.32530	0.975	0.46749	D	0.999185	D	0.89917	1.0	D	0.91635	0.999	D	0.88649	0.3181	10	0.72032	D	0.01	.	18.8667	0.92294	0.0:0.0:1.0:0.0	.	1405	Q9Y6X0	SETBP_HUMAN	Q	1405	ENSP00000282030:E1405Q	ENSP00000282030:E1405Q	E	+	1	0	SETBP1	40897083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.437000	0.97535	2.615000	0.88500	0.563000	0.77884	GAA		0.547	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		13	51	0	0	0	0.001368	0	13	51				
SLC14A2	8170	broad.mit.edu	37	18	43249357	43249357	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:43249357T>C	ENST00000255226.6	+	16	2939	c.2123T>C	c.(2122-2124)tTg>tCg	p.L708S	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.L708S|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L185S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	708					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.L708S(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						ACTGTGACTTTGTACCTGGCA	0.572																																							uc010dnj.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2122-2124)TTG>TCG		solute carrier family 14 (urea transporter),							195.0	177.0	183.0					18																	43249357		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43249357T>C	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.2123T>C	18.37:g.43249357T>C	ENSP00000255226:p.Leu708Ser					SLC14A2_uc002lbe.2_Missense_Mutation_p.L708S	p.L708S	NM_007163	NP_009094	Q15849	UT2_HUMAN			17	2444	+			708			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2123T>C	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286478	0.80803	.	.	ENSG00000132874	ENST00000255226	T	0.62105	0.05	5.76	5.76	0.90799	.	0.000000	0.43747	D	0.000526	T	0.77791	0.4183	M	0.90595	3.13	0.80722	D	1	P	0.45902	0.868	P	0.50270	0.636	T	0.83019	-0.0168	10	0.87932	D	0	-13.6323	16.0916	0.81094	0.0:0.0:0.0:1.0	.	708	Q15849	UT2_HUMAN	S	708	ENSP00000255226:L708S	ENSP00000255226:L708S	L	+	2	0	SLC14A2	41503355	0.998000	0.40836	1.000000	0.80357	0.709000	0.40893	7.375000	0.79646	2.186000	0.69663	0.533000	0.62120	TTG		0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			28	270	0	0	0	0.00632	0	28	270				
HAUS1	115106	broad.mit.edu	37	18	43698210	43698210	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:43698210C>T	ENST00000282058.6	+	3	349	c.269C>T	c.(268-270)aCt>aTt	p.T90I	HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	90					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.T90I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTCTCTAGCACTGGTTCCAGG	0.433																																					NSCLC(79;183 1423 5813 15597 38427)	NSCLC(79;183 1423 5813 15597 38427)	uc002lbu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)ACT>ATT		coiled-coil domain containing 5							118.0	114.0	115.0					18																	43698210		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698210C>T	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.269C>T	18.37:g.43698210C>T	ENSP00000282058:p.Thr90Ile					HAUS1_uc002lbv.2_Missense_Mutation_p.T14I	p.T90I	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN			3	349	+			90					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.269C>T	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025461	0.19512	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.29	0.933	0.19471	.	0.659026	0.16469	N	0.213059	T	0.28300	0.0699	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16335	-1.0406	9	0.39692	T	0.17	0.0114	6.4067	0.21668	0.0:0.4795:0.0:0.5205	.	90	Q96CS2	HAUS1_HUMAN	I	90	.	ENSP00000282058:T90I	T	+	2	0	HAUS1	41952208	0.000000	0.05858	0.183000	0.23137	0.743000	0.42351	-0.024000	0.12435	0.325000	0.23359	-0.781000	0.03364	ACT		0.433	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		9	154	0	0	0	0.008291	0	9	154				
SMAD2	4087	broad.mit.edu	37	18	45368312	45368312	+	Silent	SNP	C	C	A	rs148531026		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:45368312C>A	ENST00000402690.2	-	11	1684	c.1290G>T	c.(1288-1290)acG>acT	p.T430T	SMAD2_ENST00000356825.4_Silent_p.T400T|SMAD2_ENST00000262160.6_Silent_p.T430T|SMAD2_ENST00000586040.1_Silent_p.T400T	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	430	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.T430T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TACTTGTTACCGTCTGCCTTC	0.398																																							uc002lcy.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1288-1290)ACG>ACT		Sma- and Mad-related protein 2 isoform 1							126.0	112.0	117.0					18																	45368312		2203	4300	6503	SO:0001819	synonymous_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368312C>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1290G>T	18.37:g.45368312C>A						SMAD2_uc002lcz.2_Silent_p.T430T|SMAD2_uc010xdc.1_Silent_p.T400T	p.T430T	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			11	1538	-			430			MH2.			Silent	SNP	ENST00000402690.2	37	c.1290G>T	CCDS11934.1																																																																																				0.398	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		6	65	1	0	0.000274275	0.004482	0.000306341	6	65				
MEX3C	51320	broad.mit.edu	37	18	48702765	48702765	+	5'Flank	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:48702765C>A	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V646F(1)|p.V451F(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GTCTGGCAAACTGGACATGAT	0.408																																							uc002lfc.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1936-1938)GTT>TTT		ring finger and KH domain containing 2							125.0	111.0	116.0					18																	48702765		2203	4300	6503	SO:0001631	upstream_gene_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48702765C>A	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48702765C>A	Exception_encountered						p.V646F	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	1936	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	646			RING-type.		A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37	c.1936G>T		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138745	0.56936	.	.	ENSG00000176624	ENST00000406189	T	0.80123	-1.34	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.53671	1.685	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.88360	0.2987	10	0.87932	D	0	-10.2372	19.0305	0.92955	0.0:1.0:0.0:0.0	.	646	Q5U5Q3	MEX3C_HUMAN	F	646	ENSP00000385610:V646F	ENSP00000385610:V646F	V	-	1	0	MEX3C	46956763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.754000	0.85163	2.861000	0.98227	0.655000	0.94253	GTT		0.408	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		14	88	1	0	1.05317e-09	0.00245	1.48897e-09	14	88				
DCC	1630	broad.mit.edu	37	18	50936982	50936982	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:50936982A>C	ENST00000442544.2	+	20	3712	c.3096A>C	c.(3094-3096)ccA>ccC	p.P1032P	DCC_ENST00000581580.1_Silent_p.P667P|DCC_ENST00000412726.1_Silent_p.P860P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1032	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P1032P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGTGGGGCCACTCTCTGATC	0.378																																							uc002lfe.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3094-3096)CCA>CCC		netrin receptor DCC precursor							94.0	92.0	93.0					18																	50936982		2203	4299	6502	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50936982A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3096A>C	18.37:g.50936982A>C						DCC_uc010xdr.1_Silent_p.P860P|DCC_uc010dpf.1_Silent_p.P667P	p.P1032P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	20	3683	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1032			Extracellular (Potential).|Fibronectin type-III 6.			Silent	SNP	ENST00000442544.2	37	c.3096A>C	CCDS11952.1																																																																																				0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	91	0	0	0	0.001168	0	5	91				
WDR7	23335	broad.mit.edu	37	18	54385314	54385314	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:54385314C>G	ENST00000254442.3	+	13	1909	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	WDR7_ENST00000357574.3_Missense_Mutation_p.I566M|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	566					hematopoietic progenitor cell differentiation (GO:0002244)			p.I566M(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCAAGTAATCAAATGGAGGC	0.433																																							uc002lgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1696-1698)ATC>ATG		rabconnectin-3 beta isoform 1							190.0	171.0	177.0					18																	54385314		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385314C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1698C>G	18.37:g.54385314C>G	ENSP00000254442:p.Ile566Met					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.I566M	p.I566M	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1909	+			566			WD 7.		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1698C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270584	0.59540	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.63913	-0.07;-0.07	5.59	2.56	0.30785	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.050019	0.85682	D	0.000000	T	0.73822	0.3636	M	0.77103	2.36	0.46701	D	0.999166	D;D	0.89917	1.0;0.984	D;P	0.79108	0.992;0.813	T	0.73506	-0.3961	10	0.54805	T	0.06	.	6.3755	0.21505	0.2377:0.5959:0.0:0.1664	.	566;566	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	M	566	ENSP00000254442:I566M;ENSP00000350187:I566M	ENSP00000254442:I566M	I	+	3	3	WDR7	52536312	0.995000	0.38212	1.000000	0.80357	0.969000	0.65631	0.404000	0.20999	1.363000	0.46019	0.655000	0.94253	ATC		0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			26	185	0	0	0	0.004656	0	26	185				
CDH20	28316	broad.mit.edu	37	18	59203752	59203752	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:59203752C>A	ENST00000262717.4	+	8	1696	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	CDH20_ENST00000536675.2_Missense_Mutation_p.P433H|CDH20_ENST00000538374.1_Missense_Mutation_p.P433H			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	433	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.P433H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCAGTGACCCTGGAAGATTT	0.418																																							uc010dps.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)	5						c.(1297-1299)CCT>CAT		cadherin 20, type 2 preproprotein							214.0	199.0	204.0					18																	59203752		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59203752C>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.1298C>A	18.37:g.59203752C>A	ENSP00000262717:p.Pro433His					CDH20_uc002lif.2_Missense_Mutation_p.P427H	p.P433H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			7	1310	+		Colorectal(73;0.186)	433			Cadherin 4.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1298C>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395555	0.42512	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.64991	-0.13;-0.13;-0.13	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.115428	0.64402	D	0.000012	T	0.66567	0.2802	M	0.76838	2.35	0.35462	D	0.79657	B	0.09022	0.002	B	0.13407	0.009	T	0.69975	-0.4999	10	0.44086	T	0.13	.	19.1445	0.93459	0.0:1.0:0.0:0.0	.	433	Q9HBT6	CAD20_HUMAN	H	433	ENSP00000444767:P433H;ENSP00000442226:P433H;ENSP00000262717:P433H	ENSP00000262717:P433H	P	+	2	0	CDH20	57354732	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.104000	0.50306	2.604000	0.88044	0.549000	0.68633	CCT		0.418	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		16	224	1	0	0.000958276	0.007413	0.00104771	16	224				
CDH20	28316	broad.mit.edu	37	18	59206354	59206354	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:59206354C>A	ENST00000262717.4	+	9	1904	c.1506C>A	c.(1504-1506)gtC>gtA	p.V502V	CDH20_ENST00000536675.2_Silent_p.V502V|CDH20_ENST00000538374.1_Silent_p.V502V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V502V(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)				AAGCTTTTGTCTGTGAGAACG	0.463																																							uc010dps.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1504-1506)GTC>GTA		cadherin 20, type 2 preproprotein							168.0	159.0	162.0					18																	59206354		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59206354C>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.1506C>A	18.37:g.59206354C>A						CDH20_uc002lif.2_Silent_p.V496V	p.V502V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			8	1518	+		Colorectal(73;0.186)	502			Cadherin 5.|Extracellular (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1506C>A	CCDS11977.1																																																																																				0.463	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		35	245	1	0	6.57855e-14	0.009718	1.06644e-13	35	245				
ZCCHC2	54877	broad.mit.edu	37	18	60241759	60241759	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60241759A>G	ENST00000269499.5	+	13	2863	c.2445A>G	c.(2443-2445)ctA>ctG	p.L815L	ZCCHC2_ENST00000586834.1_Silent_p.L494L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	815						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.L815L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCAGAGGCTAAAGTTGCCAC	0.498																																							uc002lip.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|prostate(1)	2						c.(2443-2445)CTA>CTG		zinc finger, CCHC domain containing 2							110.0	111.0	111.0					18																	60241759		2082	4224	6306	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241759A>G	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2445A>G	18.37:g.60241759A>G						ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.L285L	p.L815L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	2445	+			815					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2445A>G	CCDS45880.1																																																																																				0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		21	98	0	0	0	0.003954	0	21	98				
PHLPP1	23239	broad.mit.edu	37	18	60506077	60506077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60506077C>T	ENST00000262719.5	+	3	2068	c.1834C>T	c.(1834-1836)Cag>Tag	p.Q612*	AC015989.2_ENST00000593319.1_5'Flank|PHLPP1_ENST00000588953.1_3'UTR|PHLPP1_ENST00000400316.4_Nonsense_Mutation_p.Q100*			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	612	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.Q612*(2)|p.Q99*(1)		endometrium(2)|kidney(2)|lung(13)	17						ACCCCAAAGCCAGACTTACTA	0.423																																							uc002lis.2		NA																	3	Substitution - Nonsense(3)		lung(3)		0						c.(298-300)CAG>TAG		PH domain and leucine rich repeat protein							133.0	130.0	131.0					18																	60506077		1887	4113	6000	SO:0001587	stop_gained	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60506077C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1834C>T	18.37:g.60506077C>T	ENSP00000262719:p.Gln612*						p.Q100*	NM_194449	NP_919431	O60346	PHLP1_HUMAN			4	476	+			612			PH.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Nonsense_Mutation	SNP	ENST00000262719.5	37	c.298C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	52	18.739570	0.99909	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-18.5445	18.5489	0.91056	0.0:1.0:0.0:0.0	.	.	.	.	X	100;612	.	ENSP00000262719:Q612X	Q	+	1	0	PHLPP1	58657057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	2.697000	0.92050	0.555000	0.69702	CAG		0.423	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		26	61	0	0	0	0.005443	0	26	61				
SERPINB12	89777	broad.mit.edu	37	18	61234147	61234147	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:61234147C>T	ENST00000269491.1	+	7	1121	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	SERPINB12_ENST00000382768.1_Missense_Mutation_p.S394F	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	374					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S374F(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCACTACGATCTTGGGTGGAG	0.453																																							uc010xen.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)TCT>TTT		serine (or cysteine) proteinase inhibitor, clade							78.0	77.0	78.0					18																	61234147		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61234147C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1121C>T	18.37:g.61234147C>T	ENSP00000269491:p.Ser374Phe					SERPINB12_uc010xeo.1_Missense_Mutation_p.S394F	p.S374F	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			7	1121	+			374					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1121C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	0.383	-0.927437	0.02377	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.85411	-1.98;-1.98	6.01	2.21	0.28008	Serpin domain (3);	0.812302	0.11108	N	0.598868	T	0.73705	0.3621	L	0.31371	0.925	0.09310	N	1	P;P	0.47034	0.889;0.863	B;P	0.44597	0.434;0.454	T	0.61207	-0.7109	10	0.09843	T	0.71	.	3.632	0.08135	0.1261:0.5608:0.1228:0.1903	.	394;374	Q3SYB4;Q96P63	.;SPB12_HUMAN	F	374;394	ENSP00000269491:S374F;ENSP00000372218:S394F	ENSP00000269491:S374F	S	+	2	0	SERPINB12	59385127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.956000	0.03865	0.418000	0.25898	-0.169000	0.13324	TCT		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		9	90	0	0	0	0.008291	0	9	90				
SERPINB7	8710	broad.mit.edu	37	18	61471509	61471509	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:61471509G>C	ENST00000398019.2	+	8	1108	c.783G>C	c.(781-783)tgG>tgC	p.W261C	SERPINB7_ENST00000336429.2_Missense_Mutation_p.W261C|SERPINB7_ENST00000546027.1_Missense_Mutation_p.W261C|SERPINB7_ENST00000540675.1_Missense_Mutation_p.W244C	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	261					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.W261C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATGGAATGGACCAATCCAA	0.323																																							uc002ljl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(781-783)TGG>TGC		serine (or cysteine) proteinase inhibitor, clade							43.0	42.0	42.0					18																	61471509		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471509G>C	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.783G>C	18.37:g.61471509G>C	ENSP00000381101:p.Trp261Cys					SERPINB7_uc002ljm.2_Missense_Mutation_p.W261C|SERPINB7_uc010xet.1_Missense_Mutation_p.W244C|SERPINB7_uc010dqg.2_Missense_Mutation_p.W261C	p.W261C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			8	879	+		Esophageal squamous(42;0.129)	261					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.783G>C	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221482	0.79464	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.92	5.92	0.95590	Serpin domain (3);	0.000000	0.64402	D	0.000012	D	0.95717	0.8607	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96249	0.9182	10	0.87932	D	0	.	19.3207	0.94237	0.0:0.0:1.0:0.0	.	244;261	F5GZC0;O75635	.;SPB7_HUMAN	C	261;261;244;261	ENSP00000337212:W261C;ENSP00000381101:W261C;ENSP00000444572:W244C;ENSP00000444861:W261C	ENSP00000337212:W261C	W	+	3	0	SERPINB7	59622489	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.271000	0.95698	2.805000	0.96524	0.655000	0.94253	TGG		0.323	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		8	43	0	0	0	0.004482	0	8	43				
MBP	4155	broad.mit.edu	37	18	74778254	74778254	+	Splice_Site	SNP	C	C	A	rs535536627		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:74778254C>A	ENST00000397860.3	-	3	353	c.139G>T	c.(139-141)Gga>Tga	p.G47*	MBP_ENST00000355994.2_Splice_Site_p.G47*|MBP_ENST00000397863.1_Splice_Site_p.G47*|MBP_ENST00000580402.1_Splice_Site_p.G47*|MBP_ENST00000579129.1_Splice_Site_p.G47*|MBP_ENST00000487778.1_5'UTR	NM_001025100.1	NP_001020271.1	P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.G47R(1)|p.G47*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CGTCACCTACCGAACACTTCG	0.463																																					NSCLC(17;72 1131 19392)	NSCLC(17;72 1131 19392)	uc010xfd.1		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(139-141)GGA>TGA		Golli-mbp isoform 1							161.0	120.0	134.0					18																	74778254		2203	4300	6503	SO:0001630	splice_region_variant	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74778254C>A		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397860.3:c.139+1G>T	18.37:g.74778254C>A						MBP_uc002lmr.2_Nonsense_Mutation_p.G47*	p.G47*	NM_001025101	NP_001020272	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	3	403	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	47					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Nonsense_Mutation	SNP	ENST00000397860.3	37	c.139G>T	CCDS42450.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526201	0.44969	.	.	ENSG00000197971	ENST00000355994;ENST00000397863;ENST00000397860	.	.	.	3.28	3.28	0.37604	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.0159	10.3741	0.44071	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000348273:G47X	G	-	1	0	MBP	72907242	0.999000	0.42202	0.891000	0.34965	0.088000	0.18126	2.511000	0.45476	2.149000	0.67028	0.655000	0.94253	GGA		0.463	MBP-005	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267945.1	NM_001025081	Nonsense_Mutation	22	91	1	0	5.61819e-17	0.005443	9.68178e-17	22	91				
SALL3	27164	broad.mit.edu	37	18	76753279	76753279	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:76753279G>T	ENST00000537592.2	+	2	1288	c.1288G>T	c.(1288-1290)Ggc>Tgc	p.G430C	SALL3_ENST00000536229.3_Missense_Mutation_p.G297C|SALL3_ENST00000575389.2_Missense_Mutation_p.G430C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	430					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.G430C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGGTCTTCGGCAGCGACAG	0.632																																							uc002lmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1288-1290)GGC>TGC		sal-like 3							28.0	21.0	23.0					18																	76753279		2200	4295	6495	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753279G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1288G>T	18.37:g.76753279G>T	ENSP00000441823:p.Gly430Cys					SALL3_uc010dra.2_Missense_Mutation_p.G37C	p.G430C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1288	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	430			C2H2-type 1.		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1288G>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225691	0.39300	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.07800	3.16	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000032	T	0.34279	0.0892	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.33854	-0.9852	10	0.87932	D	0	-48.5248	17.489	0.87698	0.0:0.0:1.0:0.0	.	162;430	F5GXY4;Q9BXA9	.;SALL3_HUMAN	C	430;430;162	ENSP00000441823:G430C	ENSP00000299466:G430C	G	+	1	0	SALL3	74854267	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.575000	0.98187	2.352000	0.79861	0.460000	0.39030	GGC		0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	33	1	0	0.000157383	0.00308	0.000177598	5	33				
SALL3	27164	broad.mit.edu	37	18	76757283	76757283	+	Silent	SNP	G	G	T	rs372422021		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:76757283G>T	ENST00000537592.2	+	3	3864	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T	SALL3_ENST00000536229.3_Silent_p.T1083T|SALL3_ENST00000575389.2_Silent_p.T1216T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1288					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.T1288T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCATTCACGCGGTTTATCG	0.567																																							uc002lmt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3862-3864)ACG>ACT		sal-like 3							121.0	123.0	122.0					18																	76757283		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757283G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3864G>T	18.37:g.76757283G>T						SALL3_uc010dra.2_Silent_p.T823T	p.T1288T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3864	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1288					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.3864G>T	CCDS12013.1																																																																																				0.567	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		24	254	1	0	7.01153e-11	0.007291	1.03672e-10	24	254				
UQCR11	10975	broad.mit.edu	37	19	1599497	1599497	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:1599497C>A	ENST00000591899.3	-	2	184	c.113G>T	c.(112-114)tGg>tTg	p.W38L	UQCR11_ENST00000585937.1_Missense_Mutation_p.W38L|UQCR11_ENST00000585671.1_Missense_Mutation_p.W38L|UQCR11_ENST00000589880.1_Missense_Mutation_p.W38L|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	38					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.W38L(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						GATCAGCCGCCAATCGGTGGC	0.572																																							uc002ltm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(112-114)TGG>TTG		ubiquinol-cytochrome c reductase, 6.4kDa							73.0	73.0	73.0					19																	1599497		2203	4300	6503	SO:0001583	missense	10975				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity	g.chr19:1599497C>A	D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"""Mitochondrial respiratory chain complex / Complex III"""	30862	protein-coding gene	gene with protein product	"""complex III subunit 10"""	609711	"""ubiquinol-cytochrome c reductase, 6.4kDa subunit"""	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.113G>T	19.37:g.1599497C>A	ENSP00000467262:p.Trp38Leu						p.W38L	NM_006830	NP_006821	O14957	QCR10_HUMAN			2	136	-			38					B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Missense_Mutation	SNP	ENST00000591899.3	37	c.113G>T	CCDS12073.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629475	0.67015	.	.	ENSG00000127540	ENST00000262946	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	T	0.79070	0.4384	.	.	.	0.43977	D	0.996666	D	0.89917	1.0	D	0.91635	0.999	T	0.82343	-0.0504	8	0.87932	D	0	-14.8823	14.9631	0.71171	0.0:1.0:0.0:0.0	.	38	O14957	QCR10_HUMAN	L	38	.	ENSP00000262946:W38L	W	-	2	0	UQCR11	1550497	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	5.798000	0.69095	2.200000	0.70718	0.655000	0.94253	TGG		0.572	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449668.3	NM_006830		28	102	1	0	9.8876e-21	0.004878	1.79014e-20	28	102				
CHAF1A	10036	broad.mit.edu	37	19	4433496	4433496	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:4433496G>T	ENST00000301280.5	+	13	2734	c.2633G>T	c.(2632-2634)tGc>tTc	p.C878F	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	878	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.C878F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCATGTGCATCACCCAA	0.612								Chromatin Structure																															uc002mal.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2632-2634)TGC>TTC	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							35.0	36.0	36.0					19																	4433496		2195	4290	6485	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433496G>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2633G>T	19.37:g.4433496G>T	ENSP00000301280:p.Cys878Phe						p.C878F	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2733	+		Hepatocellular(1079;0.137)	878			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2633G>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202846	0.79127	.	.	ENSG00000167670	ENST00000301280	T	0.33865	1.39	5.62	4.55	0.56014	.	.	.	.	.	T	0.44371	0.1290	L	0.56769	1.78	0.40046	D	0.975719	D	0.61697	0.99	P	0.50537	0.643	T	0.37979	-0.9682	8	.	.	.	-23.8025	14.7195	0.69294	0.0:0.274:0.726:0.0	.	878	Q13111	CAF1A_HUMAN	F	878	ENSP00000301280:C878F	.	C	+	2	0	CHAF1A	4384496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.264000	0.65513	2.653000	0.90120	0.650000	0.86243	TGC		0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		12	89	1	0	4.7546e-09	0.004007	6.5434e-09	12	89				
FBN3	84467	broad.mit.edu	37	19	8196580	8196580	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:8196580C>A	ENST00000600128.1	-	15	2262	c.1848G>T	c.(1846-1848)gtG>gtT	p.V616V	FBN3_ENST00000601739.1_Silent_p.V616V|FBN3_ENST00000270509.2_Silent_p.V616V			Q75N90	FBN3_HUMAN	fibrillin 3	616						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V616V(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTGCTGCGCACGTGGGTGT	0.677																																							uc002mjf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(1846-1848)GTG>GTT		fibrillin 3 precursor							45.0	43.0	44.0					19																	8196580		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196580C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1848G>T	19.37:g.8196580C>A							p.V616V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			14	1869	-			616					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.1848G>T	CCDS12196.1																																																																																				0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	56	1	0	2.17888e-05	0.006214	2.56155e-05	9	56				
ACTL9	284382	broad.mit.edu	37	19	8807930	8807930	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:8807930G>T	ENST00000324436.3	-	1	1242	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P374P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AATTCCTGGTGGGCTGGGCAG	0.682																																							uc002mkl.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(1120-1122)CCC>CCA		actin-like 9							28.0	31.0	30.0					19																	8807930		2203	4300	6503	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8807930G>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1122C>A	19.37:g.8807930G>T							p.P374P	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	1243	-			374					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.1122C>A	CCDS12207.1																																																																																				0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		5	39	1	0	0.000673444	0.008291	0.000736708	5	39				
MUC16	94025	broad.mit.edu	37	19	9018138	9018138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9018138C>G	ENST00000397910.4	-	25	38003	c.37800G>C	c.(37798-37800)ttG>ttC	p.L12600F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12602	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L12600F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACCTGAGCAAGGTCAGTC	0.512																																							uc002mkp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37798-37800)TTG>TTC		mucin 16							141.0	119.0	126.0					19																	9018138		1973	4158	6131	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018138C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37800G>C	19.37:g.9018138C>G	ENSP00000381008:p.Leu12600Phe						p.L12600F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			25	38004	-			12602			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37800G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.218	1.032706	0.19590	.	.	ENSG00000181143	ENST00000397910	T	0.36878	1.23	1.86	-2.62	0.06152	.	.	.	.	.	T	0.44265	0.1285	M	0.71296	2.17	.	.	.	D	0.71674	0.998	P	0.58520	0.84	T	0.47586	-0.9106	8	0.87932	D	0	.	2.2314	0.03997	0.2417:0.4136:0.0:0.3446	.	12600	B5ME49	.	F	12600	ENSP00000381008:L12600F	ENSP00000381008:L12600F	L	-	3	2	MUC16	8879138	0.000000	0.05858	0.131000	0.22000	0.022000	0.10575	-2.352000	0.01091	-0.538000	0.06281	0.195000	0.17529	TTG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	97	0	0	0	0.00499	0	16	97				
MUC16	94025	broad.mit.edu	37	19	9056877	9056877	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9056877G>T	ENST00000397910.4	-	3	30772	c.30569C>A	c.(30568-30570)cCt>cAt	p.P10190H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10192	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5823H(1)|p.P10190H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGACCCAGGAGAAGAAGG	0.453																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30568-30570)CCT>CAT		mucin 16							143.0	142.0	142.0					19																	9056877		1972	4162	6134	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056877G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30569C>A	19.37:g.9056877G>T	ENSP00000381008:p.Pro10190His						p.P10190H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30773	-			10192			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30569C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.261	0.047589	0.08243	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	2.87	0.617	0.17619	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	.	.	.	D	0.89917	1.0	D	0.68353	0.957	T	0.40646	-0.9552	8	0.87932	D	0	.	5.6052	0.17374	0.2559:0.0:0.7441:0.0	.	10190	B5ME49	.	H	10190	ENSP00000381008:P10190H	ENSP00000381008:P10190H	P	-	2	0	MUC16	8917877	0.001000	0.12720	0.003000	0.11579	0.024000	0.10985	0.673000	0.25203	0.234000	0.21139	0.467000	0.42956	CCT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	69	1	0	1.58986e-06	0.008291	1.96659e-06	11	69				
MUC16	94025	broad.mit.edu	37	19	9065903	9065903	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9065903T>A	ENST00000397910.4	-	3	21746	c.21543A>T	c.(21541-21543)acA>acT	p.T7181T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7181T(2)|p.T2814T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGACGCTGCTGTGTTTGTGG	0.488																																							uc002mkp.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21541-21543)ACA>ACT		mucin 16							198.0	185.0	190.0					19																	9065903		2115	4237	6352	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065903T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21543A>T	19.37:g.9065903T>A							p.T7181T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21747	-			7183			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21543A>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	133	0	0	0	0.003954	0	19	133				
ZNF317	57693	broad.mit.edu	37	19	9269576	9269576	+	Missense_Mutation	SNP	G	G	T	rs375544712		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9269576G>T	ENST00000247956.6	+	6	765	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	ZNF317_ENST00000360385.3_Missense_Mutation_p.V122L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	154					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.V154L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCAGTGGTGTGACGATGGT	0.443																																							uc002mku.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GTG>TTG		zinc finger protein 317		G	LEU/VAL,LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	126.0	115.0	119.0		364,460	-0.3	0.0	19		119	0,8600		0,0,4300	no	missense,missense	ZNF317	NM_001190791.1,NM_020933.4	32,32	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	122/564,154/596	9269576	1,13005	2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9269576G>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.460G>T	19.37:g.9269576G>T	ENSP00000247956:p.Val154Leu					ZNF317_uc002mkv.2_Missense_Mutation_p.V13L|ZNF317_uc002mkw.2_Missense_Mutation_p.V122L|ZNF317_uc002mkx.2_Missense_Mutation_p.V69L|ZNF317_uc002mky.2_Missense_Mutation_p.V37L	p.V154L	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			6	735	+			154					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.460G>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420462	0.01136	2.27E-4	0.0	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.06768	3.48;3.26	3.15	-0.29	0.12847	.	0.408075	0.18078	N	0.152397	T	0.05914	0.0154	L	0.49350	1.555	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.10450	0.005;0.005	T	0.40813	-0.9543	10	0.15499	T	0.54	-13.6224	2.6127	0.04895	0.3651:0.0:0.422:0.2129	.	122;154	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	L	154;122	ENSP00000247956:V154L;ENSP00000353554:V122L	ENSP00000247956:V154L	V	+	1	0	ZNF317	9130576	0.043000	0.20138	0.001000	0.08648	0.257000	0.26127	0.084000	0.14891	0.042000	0.15717	-0.500000	0.04577	GTG		0.443	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		13	98	1	0	3.41278e-10	0.00499	4.93125e-10	13	98				
OR7E24	26648	broad.mit.edu	37	19	9362498	9362498	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9362498G>C	ENST00000456448.1	+	1	893	c.779G>C	c.(778-780)gGc>gCc	p.G260A		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G260A(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCACCTGTGGCTCTCACCTG	0.463																																							uc002mlb.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(778-780)GGC>GCC		olfactory receptor, family 7, subfamily E,							40.0	42.0	42.0					19																	9362498		2102	4246	6348	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362498G>C	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.779G>C	19.37:g.9362498G>C	ENSP00000387523:p.Gly260Ala						p.G260A	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	779	+			260			Helical; Name=6; (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.779G>C	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.347711	0.24426	.	.	ENSG00000237521	ENST00000456448	T	0.33654	1.4	2.21	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25754	0.0627	L	0.31804	0.96	0.21553	N	0.999645	P	0.44044	0.825	P	0.46299	0.511	T	0.12344	-1.0551	9	0.10111	T	0.7	.	5.9604	0.19297	0.0:0.2094:0.577:0.2135	.	260	Q6IFN5	O7E24_HUMAN	A	260	ENSP00000387523:G260A	ENSP00000387523:G260A	G	+	2	0	OR7E24	9223498	0.000000	0.05858	0.930000	0.37139	0.211000	0.24417	-1.011000	0.03652	0.238000	0.21222	0.436000	0.28706	GGC		0.463	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			3	20	0	0	0	0.009096	0	3	20				
ZNF491	126069	broad.mit.edu	37	19	11917808	11917808	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:11917808G>C	ENST00000323169.5	+	3	1371	c.1040G>C	c.(1039-1041)aGg>aCg	p.R347T	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	347					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.R347T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATACATGGAAGGACTCACACT	0.438																																							uc002mso.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1039-1041)AGG>ACG		zinc finger protein 491							62.0	63.0	63.0					19																	11917808		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917808G>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1040G>C	19.37:g.11917808G>C	ENSP00000313443:p.Arg347Thr						p.R347T	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	1325	+			347			C2H2-type 10.		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.1040G>C	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	13.03	2.114331	0.37339	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.25414	1.8	0.981	0.981	0.19756	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46870	0.1415	M	0.84511	2.7	0.09310	N	1	D	0.61697	0.99	P	0.59115	0.852	T	0.29397	-1.0013	9	0.66056	D	0.02	.	9.5688	0.39416	0.0:0.0:1.0:0.0	.	347	Q8N8L2	ZN491_HUMAN	T	347;319	ENSP00000313443:R347T	ENSP00000313443:R347T	R	+	2	0	ZNF491	11778808	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.492000	0.06467	0.852000	0.35287	0.505000	0.49811	AGG		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		8	54	0	0	0	0.004482	0	8	54				
ZNF700	90592	broad.mit.edu	37	19	12060814	12060814	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:12060814A>G	ENST00000254321.5	+	4	2118	c.1975A>G	c.(1975-1977)Aaa>Gaa	p.K659E	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.K641E|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	659					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.K659E(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGCATTCTGTAAATTCTCTTC	0.413																																							uc002msu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1975-1977)AAA>GAA		zinc finger protein 700							59.0	58.0	59.0					19																	12060814		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060814A>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1975A>G	19.37:g.12060814A>G	ENSP00000254321:p.Lys659Glu					ZNF700_uc010xme.1_Missense_Mutation_p.K677E|ZNF763_uc010xmf.1_Intron	p.K659E	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	2101	+			659			C2H2-type 16.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1975A>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	0.026	-1.374687	0.01214	.	.	ENSG00000196757	ENST00000254321	T	0.34472	1.36	0.495	-0.989	0.10242	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12178	0.0296	N	0.03967	-0.31	0.09310	N	1	B	0.25105	0.118	B	0.19391	0.025	T	0.15780	-1.0425	9	0.29301	T	0.29	.	0.7215	0.00941	0.2275:0.3638:0.2139:0.1948	.	659	Q9H0M5	ZN700_HUMAN	E	659	ENSP00000254321:K659E	ENSP00000254321:K659E	K	+	1	0	ZNF700	11921814	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.195000	0.00276	-1.521000	0.01771	-0.736000	0.03550	AAA		0.413	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		10	56	0	0	0	0.008291	0	10	56				
ZNF763	284390	broad.mit.edu	37	19	12087964	12087964	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:12087964A>T	ENST00000358987.3	+	2	242	c.115A>T	c.(115-117)Aac>Tac	p.N39Y	ZNF763_ENST00000591944.1_Missense_Mutation_p.N108Y|ZNF763_ENST00000592625.1_Missense_Mutation_p.N39Y|ZNF763_ENST00000590798.1_Missense_Mutation_p.N59Y|ZNF763_ENST00000538752.1_Missense_Mutation_p.N59Y|ZNF763_ENST00000343949.5_Missense_Mutation_p.N42Y|ZNF763_ENST00000545530.1_Intron			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N41Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AACTTTCAGGAACCTGACCTC	0.453																																							uc002msw.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(115-117)AAC>TAC		zinc finger protein 763							167.0	169.0	169.0					19																	12087964		2203	4298	6501	SO:0001583	missense	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12087964A>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.115A>T	19.37:g.12087964A>T	ENSP00000402017:p.Asn39Tyr					ZNF763_uc010xmf.1_Missense_Mutation_p.N59Y|ZNF763_uc002msv.2_Missense_Mutation_p.N42Y|ZNF763_uc010xmg.1_Intron	p.N39Y	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			2	270	+			39			KRAB.		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.115A>T		.	.	.	.	.	.	.	.	.	.	a	13.53	2.265774	0.40095	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.02737	4.18;4.18;4.18	0.864	-0.455	0.12193	Krueppel-associated box (4);	.	.	.	.	T	0.17066	0.0410	H	0.96365	3.81	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.991	D;D;D	0.87578	0.994;0.998;0.955	T	0.00893	-1.1524	9	0.87932	D	0	.	3.5981	0.08014	0.587:0.413:0.0:0.0	.	59;39;42	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	Y	59;42;39	ENSP00000438117:N59Y;ENSP00000369774:N42Y;ENSP00000402017:N39Y	ENSP00000369774:N42Y	N	+	1	0	ZNF763	11948964	0.001000	0.12720	0.219000	0.23793	0.544000	0.35116	0.864000	0.27926	-0.247000	0.09597	0.164000	0.16699	AAC		0.453	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		19	123	0	0	0	0.001882	0	19	123				
CLEC17A	388512	broad.mit.edu	37	19	14694178	14694178	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:14694178A>C	ENST00000417570.1	+	2	91	c.53A>C	c.(52-54)gAg>gCg	p.E18A	RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000547437.1_Missense_Mutation_p.E18A|CLEC17A_ENST00000397439.2_Missense_Mutation_p.E18A	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	18	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E18A(1)									GGGACCATGGAGGAGGAGGAG	0.587																																							uc010dzn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)GAG>GCG		SubName: Full=CLEC17A protein;							24.0	22.0	23.0					19																	14694178		1845	4051	5896	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694178A>C	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.53A>C	19.37:g.14694178A>C	ENSP00000393719:p.Glu18Ala					CLEC17A_uc002mzh.1_Missense_Mutation_p.E18A|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Missense_Mutation_p.E18A|CLEC17A_uc010dzo.1_Missense_Mutation_p.E18A	p.E18A			Q6ZS10	CL17A_HUMAN			2	130	+			18			Cytoplasmic (Potential).|Poly-Glu.		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.53A>C	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	A	6.919	0.539206	0.13250	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.30182	2.21;1.54;4.06	0.536	0.536	0.17138	.	.	.	.	.	T	0.20941	0.0504	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.31655	0.334;0.149;0.092;0.334	B;B;B;B	0.23150	0.044;0.025;0.008;0.044	T	0.15235	-1.0444	8	0.27082	T	0.32	-35.4433	.	.	.	.	18;18;18;18	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	A	18	ENSP00000450065:E18A;ENSP00000380581:E18A;ENSP00000393719:E18A	ENSP00000341620:E18A	E	+	2	0	CLEC17A	14555178	0.109000	0.22037	0.004000	0.12327	0.008000	0.06430	1.210000	0.32370	0.443000	0.26582	0.247000	0.18012	GAG		0.587	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		4	25	0	0	0	0.000602	0	4	25				
EMR3	84658	broad.mit.edu	37	19	14765950	14765950	+	Missense_Mutation	SNP	A	A	T	rs555538254		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:14765950A>T	ENST00000253673.5	-	6	521	c.421T>A	c.(421-423)Tca>Aca	p.S141T	EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.S89T|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	141					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S141T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTGAGAAGTGACTCAAATTTG	0.368																																							uc002mzi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(421-423)TCA>ACA		egf-like module-containing mucin-like receptor							113.0	110.0	111.0					19																	14765950		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14765950A>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.421T>A	19.37:g.14765950A>T	ENSP00000253673:p.Ser141Thr					EMR3_uc010dzp.2_Missense_Mutation_p.S89T|EMR3_uc010xnv.1_Intron	p.S141T	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			6	569	-			141			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.421T>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	9.509	1.105218	0.20632	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.09538	2.97;2.97	3.65	-0.264	0.12950	.	.	.	.	.	T	0.10035	0.0246	L	0.54323	1.7	0.09310	N	1	P;B	0.48694	0.914;0.23	B;B	0.43301	0.415;0.05	T	0.24154	-1.0168	9	0.30078	T	0.28	.	4.147	0.10220	0.3821:0.3911:0.0:0.2268	.	89;141	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	T	141;89	ENSP00000253673:S141T;ENSP00000340758:S89T	ENSP00000253673:S141T	S	-	1	0	EMR3	14626950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.195000	0.09546	0.070000	0.16634	-0.438000	0.05819	TCA		0.368	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		7	115	0	0	0	0.001984	0	7	115				
AKAP8	10270	broad.mit.edu	37	19	15483986	15483986	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:15483986C>T	ENST00000269701.2	-	5	597	c.537G>A	c.(535-537)gaG>gaA	p.E179E		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	179					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E179E(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGAGCCCCGCTCCCGGGCTG	0.677																																					GBM(190;1671 2163 3274 27186 30476)	GBM(190;1671 2163 3274 27186 30476)	uc002nav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(535-537)GAG>GAA		A-kinase anchor protein 8							20.0	25.0	23.0					19																	15483986		2202	4295	6497	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483986C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.537G>A	19.37:g.15483986C>T						AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	p.E179E	NM_005858	NP_005849	O43823	AKAP8_HUMAN			5	598	-			179						Silent	SNP	ENST00000269701.2	37	c.537G>A	CCDS12329.1																																																																																				0.677	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		7	45	0	0	0	0.004482	0	7	45				
CYP4F22	126410	broad.mit.edu	37	19	15651462	15651463	+	Missense_Mutation	DNP	CG	CG	GA	rs139163760		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:15651462_15651463CG>GA	ENST00000269703.3	+	8	1072_1073	c.873_874CG>GA	c.(871-876)gcCGag>gcGAag	p.E292K	CYP4F22_ENST00000601005.2_Missense_Mutation_p.E292K	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	292						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.E292K(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCAGGGGGCCGAGGCCTGGCT	0.653																																							uc002nbh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(871-876)GCCGAG>GCGAAG		cytochrome P450, family 4, subfamily F,																																				SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651462_15651463CG>GA		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	Exception_encountered	19.37:g.15651462_15651463delinsGA	ENSP00000269703:p.Glu292Lys						p.E292K	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			8	1040_1041	+			292					Q8N8H4	Missense_Mutation	DNP	ENST00000269703.3	37	c.873_874CG>GA	CCDS12331.1																																																																																				0.653	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		10	76	0	0	0	0.004672	0	10	76				
AP1M1	8907	broad.mit.edu	37	19	16338502	16338502	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:16338502G>T	ENST00000291439.3	+	7	1265		c.e7+1		AP1M1_ENST00000444449.2_Splice_Site|AP1M1_ENST00000590756.1_Splice_Site|AP1M1_ENST00000541844.1_Splice_Site|AP1M1_ENST00000429941.2_Splice_Site	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACACCCACGTGAGTGCGCC	0.657																																							uc002ndu.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|breast(1)	4						c.e7+1		adaptor-related protein complex 1, mu 1 subunit							202.0	182.0	188.0					19																	16338502		2203	4300	6503	SO:0001630	splice_region_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16338502G>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.816+1G>T	19.37:g.16338502G>T						AP1M1_uc002ndv.2_Splice_Site_p.H284_splice|AP1M1_uc010xpd.1_Splice_Site_p.H272_splice	p.H272_splice	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			7	989	+								Q4TTY5	Splice_Site	SNP	ENST00000291439.3	37	c.816_splice	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832119	0.50845	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.259	0.73606	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AP1M1	16199502	1.000000	0.71417	0.998000	0.56505	0.387000	0.30353	9.356000	0.97091	2.064000	0.61679	0.561000	0.74099	.		0.657	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	Intron	23	272	1	0	4.22769e-11	0.00632	6.30789e-11	23	272				
JAK3	3718	broad.mit.edu	37	19	17937597	17937597	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:17937597G>A	ENST00000527670.1	-	23	3359	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	JAK3_ENST00000458235.1_Silent_p.F1110F			P52333	JAK3_HUMAN	Janus kinase 3	1110	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F1110F(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGTGAGCAGTGAAGGCATGAG	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																		uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(3328-3330)TTC>TTT		Janus kinase 3							173.0	146.0	155.0					19																	17937597		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937597G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3330C>T	19.37:g.17937597G>A						JAK3_uc010ebh.2_Intron	p.F1110F	NM_000215	NP_000206	P52333	JAK3_HUMAN			24	3430	-			1110			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3330C>T	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		25	259	0	0	0	0.003954	0	25	259				
PDE4C	5143	broad.mit.edu	37	19	18329183	18329184	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18329183_18329184GG>TT	ENST00000355502.3	-	14	2061_2062	c.1190_1191CC>AA	c.(1189-1191)gCC>gAA	p.A397E	PDE4C_ENST00000262805.12_Missense_Mutation_p.A365E|PDE4C_ENST00000447275.3_Missense_Mutation_p.A291E|PDE4C_ENST00000539010.1_Missense_Mutation_p.A166E|PDE4C_ENST00000594465.3_Missense_Mutation_p.A397E|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000597297.1_Missense_Mutation_p.A167E|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.A397E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	397					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.A397E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCGTGGACTGGGCCACGTCGGC	0.653																																							uc010xqc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1189-1191)GCC>GAA		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)																																			SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18329183_18329184GG>TT		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1190_1191delinsTT	19.37:g.18329183_18329184delinsTT	ENSP00000347689:p.Ala397Glu					PDE4C_uc002nik.3_Missense_Mutation_p.A397E|PDE4C_uc002nil.3_Missense_Mutation_p.A397E|PDE4C_uc002nif.3_Missense_Mutation_p.A166E|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Missense_Mutation_p.A167E|PDE4C_uc010ebk.2_Missense_Mutation_p.A291E|PDE4C_uc002nii.3_Missense_Mutation_p.A365E|PDE4C_uc010ebl.2_Missense_Mutation_p.A111E|PDE4C_uc010xqd.1_Missense_Mutation_p.A166E	p.A397E	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			10	1670_1671	-			397					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	DNP	ENST00000355502.3	37	c.1190_1191CC>AA	CCDS12373.1																																																																																				0.653	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			49	142	0	0	0	0.004672	0	49	142				
TMEM59L	25789	broad.mit.edu	37	19	18731227	18731227	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18731227C>T	ENST00000600490.1	+	9	1095	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	TMEM59L_ENST00000262817.3_Silent_p.L304L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	304						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L304L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCCTCTGACCCTGGAGCAGCA	0.627																																							uc002njy.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(910-912)CTG>TTG		brain-specific membrane-anchored protein							64.0	60.0	61.0					19																	18731227		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731227C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.910C>T	19.37:g.18731227C>T							p.L304L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			8	997	+			304						Silent	SNP	ENST00000600490.1	37	c.910C>T	CCDS12383.1																																																																																				0.627	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			15	96	0	0	0	0.004007	0	15	96				
CILP2	148113	broad.mit.edu	37	19	19655944	19655944	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:19655944G>T	ENST00000291495.5	+	8	2675	c.2590G>T	c.(2590-2592)Gcc>Tcc	p.A864S	CILP2_ENST00000586018.1_Missense_Mutation_p.A870S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	864						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.A864S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATCAACCTCGCCAAGCCCAG	0.692																																							uc002nmv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2590-2592)GCC>TCC		cartilage intermediate layer protein 2							23.0	24.0	24.0					19																	19655944		2110	4131	6241	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655944G>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2590G>T	19.37:g.19655944G>T	ENSP00000291495:p.Ala864Ser					CILP2_uc002nmw.3_Missense_Mutation_p.A870S	p.A864S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2675	+			864					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2590G>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629557	0.87660	.	.	ENSG00000160161	ENST00000291495	T	0.11712	2.75	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00790	-1.1565	10	0.66056	D	0.02	-29.1893	16.9338	0.86198	0.0:0.0:1.0:0.0	.	864;864	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	864	ENSP00000291495:A864S	ENSP00000291495:A864S	A	+	1	0	CILP2	19516944	1.000000	0.71417	0.483000	0.27378	0.859000	0.49053	5.459000	0.66685	2.597000	0.87782	0.555000	0.69702	GCC		0.692	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		9	32	1	0	4.68919e-08	0.008291	6.21436e-08	9	32				
ZNF486	90649	broad.mit.edu	37	19	20308560	20308560	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:20308560G>A	ENST00000335117.8	+	4	1098	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E341E(1)|p.E347E(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATACGGGAGAGAAACCCTACA	0.403																																							uc002nou.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1039-1041)GAG>GAA		zinc finger protein 486							48.0	53.0	51.0					19																	20308560		2184	4290	6474	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308560G>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1041G>A	19.37:g.20308560G>A							p.E347E	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	1098	+			347					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.1041G>A	CCDS46029.1																																																																																				0.403	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		6	57	0	0	0	0.004482	0	6	57				
ZNF431	170959	broad.mit.edu	37	19	21366002	21366002	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:21366002G>C	ENST00000311048.7	+	5	1040	c.896G>C	c.(895-897)cGg>cCg	p.R299P	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					cell differentiation (GO:0030154)|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)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.R299P(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTTCAACCGGTCCTCACAC	0.408																																							uc002npp.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(895-897)CGG>CCG		zinc finger protein 431							59.0	62.0	61.0					19																	21366002		2201	4299	6500	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366002G>C	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.896G>C	19.37:g.21366002G>C	ENSP00000308578:p.Arg299Pro					ZNF431_uc010ecq.2_Missense_Mutation_p.R208P|ZNF431_uc010ecr.2_Missense_Mutation_p.R300P	p.R299P	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	1043	+			299			C2H2-type 5.		A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.896G>C	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	2.885	-0.230906	0.05983	.	.	ENSG00000196705	ENST00000311048	T	0.07444	3.19	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	M	0.80422	2.495	0.09310	N	1	B	0.26147	0.143	B	0.24974	0.057	T	0.15549	-1.0433	9	0.46703	T	0.11	.	8.8725	0.35325	0.0:0.0:1.0:0.0	.	299	Q8TF32	ZN431_HUMAN	P	299	ENSP00000308578:R299P	ENSP00000308578:R299P	R	+	2	0	ZNF431	21157842	0.000000	0.05858	0.540000	0.28089	0.518000	0.34316	-1.603000	0.02077	0.446000	0.26666	0.449000	0.29647	CGG		0.408	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		6	83	0	0	0	0.001984	0	6	83				
ZNF676	163223	broad.mit.edu	37	19	22363680	22363680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22363680G>C	ENST00000397121.2	-	3	1156	c.839C>G	c.(838-840)cCc>cGc	p.P280R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	280					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.P280R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGCTTCTCTTC	0.413																																							uc002nqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(838-840)CCC>CGC		zinc finger protein 676							86.0	93.0	91.0					19																	22363680		2152	4270	6422	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363680G>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.839C>G	19.37:g.22363680G>C	ENSP00000380310:p.Pro280Arg						p.P280R	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1157	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	280					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.839C>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	7.032	0.560767	0.13498	.	.	ENSG00000196109	ENST00000397121	T	0.17213	2.29	0.85	-1.7	0.08159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	M	0.64080	1.96	0.25374	N	0.988677	D	0.89917	1.0	D	0.79108	0.992	T	0.47995	-0.9073	9	0.87932	D	0	.	5.0918	0.14711	0.0:0.2267:0.5419:0.2314	.	280	Q8N7Q3	ZN676_HUMAN	R	280	ENSP00000380310:P280R	ENSP00000380310:P280R	P	-	2	0	ZNF676	22155520	0.656000	0.27385	0.002000	0.10522	0.002000	0.02628	1.317000	0.33631	-3.322000	0.00187	-3.419000	0.00038	CCC		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	94	0	0	0	0.00308	0	8	94				
ZNF99	7652	broad.mit.edu	37	19	22939970	22939970	+	IGR	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22939970T>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.S787S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.S787S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTAAGGTGTGAGGACTGCT	0.368																																							uc010xrh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2359-2361)TCA>TCT		zinc finger protein 99							64.0	75.0	71.0					19																	22939970		2158	4275	6433	SO:0001628	intergenic_variant	7652							g.chr19:22939970T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939970T>A							p.S787S	NM_001080409	NP_001073878					6	2361	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2361A>T	CCDS59369.1																																																																																				0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		15	37	0	0	0	0.003163	0	15	37				
ZNF99	7652	broad.mit.edu	37	19	22940130	22940130	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22940130C>G	ENST00000596209.1	-	4	2671	c.2581G>C	c.(2581-2583)Gaa>Caa	p.E861Q	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.R734T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	861					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.R734T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATGTTTTCTAAGGGCTGA	0.348																																							uc010xrh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2200-2202)AGA>ACA		zinc finger protein 99							43.0	47.0	46.0					19																	22940130		2012	4201	6213	SO:0001583	missense	7652							g.chr19:22940130C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2581G>C	19.37:g.22940130C>G	ENSP00000472969:p.Glu861Gln						p.R734T	NM_001080409	NP_001073878					6	2201	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2201G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.122170	0.00031	.	.	ENSG00000213973	ENST00000397104	T	0.20598	2.06	0.956	-1.91	0.07641	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.08492	0.0211	N	0.26092	0.79	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.38607	-0.9653	9	0.02654	T	1	.	0.3042	0.00278	0.202:0.2053:0.2008:0.3919	.	734	A8MXY4	ZNF99_HUMAN	T	734	ENSP00000380293:R734T	ENSP00000380293:R734T	R	-	2	0	ZNF99	22731970	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-5.015000	0.00160	-0.454000	0.07066	0.173000	0.16961	AGA		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		7	56	0	0	0	0.004482	0	7	56				
POP4	10775	broad.mit.edu	37	19	30099608	30099608	+	Missense_Mutation	SNP	G	G	T	rs144806266		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:30099608G>T	ENST00000585603.1	+	2	2354	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_5'UTR|POP4_ENST00000392279.3_Silent_p.P11P			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	18					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)	p.D18Y(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GAATGACTCCGATGTCCAGGT	0.488																																					Melanoma(89;1165 1449 14085 34436 43672)	Melanoma(89;1165 1449 14085 34436 43672)	uc002nsf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)GAT>TAT		processing of precursor 4							136.0	135.0	135.0					19																	30099608		2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30099608G>T	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.52G>T	19.37:g.30099608G>T	ENSP00000465213:p.Asp18Tyr					POP4_uc002nsg.2_Silent_p.P11P	p.D18Y	NM_006627	NP_006618	O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	108	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		18					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.52G>T	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284373	0.40394	.	.	ENSG00000105171	ENST00000221770	.	.	.	4.93	4.93	0.64822	.	0.166481	0.51477	D	0.000082	T	0.52191	0.1719	L	0.31207	0.915	0.80722	D	1	D	0.54964	0.969	P	0.52672	0.706	T	0.54029	-0.8354	9	0.59425	D	0.04	-9.6693	13.8237	0.63338	0.0:0.0:1.0:0.0	.	18	O95707	RPP29_HUMAN	Y	18	.	ENSP00000221770:D18Y	D	+	1	0	POP4	34791448	0.984000	0.35163	0.911000	0.35937	0.062000	0.15995	4.055000	0.57441	2.719000	0.93026	0.655000	0.94253	GAT		0.488	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		21	183	1	0	2.89027e-11	0.002299	4.31894e-11	21	183				
ZNF536	9745	broad.mit.edu	37	19	30935448	30935448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:30935448G>T	ENST00000355537.3	+	2	1126	c.979G>T	c.(979-981)Gag>Tag	p.E327*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	327					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.E327*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATCACGGCCGAGTCGGCCCA	0.657																																							uc002nsu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(979-981)GAG>TAG		zinc finger protein 536							87.0	99.0	95.0					19																	30935448		2203	4300	6503	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935448G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.979G>T	19.37:g.30935448G>T	ENSP00000347730:p.Glu327*					ZNF536_uc010edd.1_Nonsense_Mutation_p.E327*	p.E327*	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1117	+	Esophageal squamous(110;0.0834)		327					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.979G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345506	0.82022	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-41.1519	19.5661	0.95393	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000347730:E327X	E	+	1	0	ZNF536	35627288	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	9.829000	0.99411	2.631000	0.89168	0.491000	0.48974	GAG		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		40	203	1	0	8.72198e-27	0.00361	1.65684e-26	40	203				
ZNF536	9745	broad.mit.edu	37	19	31039574	31039574	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31039574G>T	ENST00000355537.3	+	4	3195	c.3048G>T	c.(3046-3048)atG>atT	p.M1016I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1016					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.M1016I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGAGCTCATGGCCCTTCATC	0.577																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3046-3048)ATG>ATT		zinc finger protein 536							78.0	70.0	73.0					19																	31039574		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039574G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3048G>T	19.37:g.31039574G>T	ENSP00000347730:p.Met1016Ile					ZNF536_uc010edd.1_Missense_Mutation_p.M1016I	p.M1016I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3186	+	Esophageal squamous(110;0.0834)		1016					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3048G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425812	0.43020	.	.	ENSG00000198597	ENST00000355537	T	0.31510	1.49	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.32530	0.975	0.80722	D	1	D;D	0.54964	0.969;0.969	D;D	0.63381	0.914;0.914	T	0.33777	-0.9855	10	0.66056	D	0.02	-38.7715	20.2437	0.98389	0.0:0.0:1.0:0.0	.	1016;1016	A7E228;O15090	.;ZN536_HUMAN	I	1016	ENSP00000347730:M1016I	ENSP00000347730:M1016I	M	+	3	0	ZNF536	35731414	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.365000	0.97139	2.778000	0.95560	0.655000	0.94253	ATG		0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		9	104	1	0	3.07112e-06	0.000978	3.73776e-06	9	104				
ZNF536	9745	broad.mit.edu	37	19	31039763	31039763	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31039763G>T	ENST00000355537.3	+	4	3384	c.3237G>T	c.(3235-3237)atG>atT	p.M1079I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1079					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.M1079I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGAGAAGATGGCCCAAGGTC	0.537																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3235-3237)ATG>ATT		zinc finger protein 536							63.0	69.0	67.0					19																	31039763		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039763G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3237G>T	19.37:g.31039763G>T	ENSP00000347730:p.Met1079Ile					ZNF536_uc010edd.1_Missense_Mutation_p.M1079I	p.M1079I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3375	+	Esophageal squamous(110;0.0834)		1079					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3237G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.216984	0.01542	.	.	ENSG00000198597	ENST00000355537	T	0.07216	3.21	5.74	2.31	0.28768	.	0.722516	0.14832	N	0.295838	T	0.05777	0.0151	L	0.27053	0.805	0.20873	N	0.999838	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	10	0.35671	T	0.21	-2.3145	6.1595	0.20356	0.0667:0.2341:0.5637:0.1356	.	1079;1079	A7E228;O15090	.;ZN536_HUMAN	I	1079	ENSP00000347730:M1079I	ENSP00000347730:M1079I	M	+	3	0	ZNF536	35731603	1.000000	0.71417	0.775000	0.31657	0.130000	0.20726	0.883000	0.28200	0.280000	0.22209	0.655000	0.94253	ATG		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	107	1	0	2.31682e-05	0.003163	2.70915e-05	12	107				
TSHZ3	57616	broad.mit.edu	37	19	31769068	31769068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31769068C>T	ENST00000240587.4	-	2	1958	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	544					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W361*(1)|p.W544*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATAGCCCCCCCAGCTAGGAGT	0.552																																							uc002nsy.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1630-1632)TGG>TAG		zinc finger protein 537							120.0	121.0	121.0					19																	31769068		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769068C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1631G>A	19.37:g.31769068C>T	ENSP00000240587:p.Trp544*						p.W544*	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1696	-	Esophageal squamous(110;0.226)		544					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.1631G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	40	8.203559	0.98704	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7372	18.749	0.91806	0.0:1.0:0.0:0.0	.	.	.	.	X	544	.	ENSP00000240587:W544X	W	-	2	0	TSHZ3	36460908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.461000	0.80834	2.412000	0.81896	0.655000	0.94253	TGG		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		30	233	0	0	0	0.009535	0	30	233				
ANKRD27	84079	broad.mit.edu	37	19	33098606	33098606	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:33098606C>T	ENST00000306065.4	-	23	2466	c.2308G>A	c.(2308-2310)Gca>Aca	p.A770T	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	770					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A770T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGCACCTGCGTTGGCCCCG	0.692																																							uc002ntn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(2308-2310)GCA>ACA		ankyrin repeat domain 27 (VPS9 domain)							46.0	39.0	42.0					19																	33098606		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33098606C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2308G>A	19.37:g.33098606C>T	ENSP00000304292:p.Ala770Thr						p.A770T	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			23	2464	-	Esophageal squamous(110;0.137)		770			ANK 8.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2308G>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878608	0.17395	.	.	ENSG00000105186	ENST00000306065	T	0.64085	-0.08	5.7	-4.93	0.03066	Ankyrin repeat-containing domain (4);	1.800290	0.02861	N	0.130357	T	0.41650	0.1168	N	0.16307	0.4	0.09310	N	1	B	0.29270	0.24	B	0.28849	0.095	T	0.28235	-1.0050	10	0.51188	T	0.08	1.5062	3.8772	0.09062	0.0925:0.4976:0.2277:0.1823	.	770	Q96NW4	ANR27_HUMAN	T	770	ENSP00000304292:A770T	ENSP00000304292:A770T	A	-	1	0	ANKRD27	37790446	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.226000	0.02953	-0.973000	0.03555	-0.290000	0.09829	GCA		0.692	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		7	35	0	0	0	0.00308	0	7	35				
GPI	2821	broad.mit.edu	37	19	34884875	34884875	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:34884875G>T	ENST00000356487.5	+	12	1207	c.966G>T	c.(964-966)ctG>ctT	p.L322L	GPI_ENST00000586425.1_Silent_p.L322L|GPI_ENST00000415930.3_Silent_p.L333L	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	322					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.L322L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCTGGCCCTGCTGGGTATCT	0.602																																							uc002nvg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(964-966)CTG>CTT		glucose phosphate isomerase							110.0	102.0	105.0					19																	34884875		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884875G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.966G>T	19.37:g.34884875G>T						GPI_uc002nvf.2_Silent_p.L361L|GPI_uc010xrv.1_Silent_p.L333L|GPI_uc010xrw.1_Silent_p.L294L|GPI_uc010edl.1_Silent_p.L322L|GPI_uc002nvi.1_5'UTR	p.L322L	NM_000175	NP_000166	P06744	G6PI_HUMAN			12	1069	+	Esophageal squamous(110;0.162)		322					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.966G>T	CCDS12437.1																																																																																				0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			66	205	1	0	1.62403e-39	0.00361	3.1993e-39	66	205				
UBA2	10054	broad.mit.edu	37	19	34957912	34957912	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:34957912C>G	ENST00000246548.4	+	16	1804	c.1734C>G	c.(1732-1734)acC>acG	p.T578T	UBA2_ENST00000439527.2_Silent_p.T482T|UBA2_ENST00000592791.1_Silent_p.T104T	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	578					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.T578T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGCCCTCCACCTCCACAGGTG	0.463																																							uc002nvk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1732-1734)ACC>ACG		SUMO-1 activating enzyme subunit 2							55.0	48.0	50.0					19																	34957912		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34957912C>G	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1734C>G	19.37:g.34957912C>G						UBA2_uc002nvl.2_Silent_p.T482T	p.T578T	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		16	1804	+	Esophageal squamous(110;0.162)		578					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.1734C>G	CCDS12439.1																																																																																				0.463	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		10	45	0	0	0	0.001855	0	10	45				
ZNF792	126375	broad.mit.edu	37	19	35451811	35451812	+	Missense_Mutation	DNP	CG	CG	AA	rs201454347	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:35451811_35451812CG>AA	ENST00000404801.1	-	2	506_507	c.120_121CG>TT	c.(118-123)tgCGat>tgTTat	p.D41Y	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	41	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)|metal ion binding (GO:0046872)	p.D41Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCATCACATCGCAGTACAGGA	0.579																																					GBM(1;7 183 21053 22581 22847)	GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-123)TGCGAT>TGTTAT		zinc finger protein 792																																				SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451811_35451812CG>AA	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.120_121delinsAA	19.37:g.35451811_35451812delinsAA	ENSP00000385099:p.Asp41Tyr						p.D41Y	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	507_508	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		41			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	DNP	ENST00000404801.1	37	c.120_121CG>TT	CCDS12440.2																																																																																				0.579	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		33	141	0	0	0	0.004672	0	33	141				
GAPDHS	26330	broad.mit.edu	37	19	36027810	36027811	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36027810_36027811CC>AA	ENST00000222286.4	+	2	279_280	c.163_164CC>AA	c.(163-165)CCg>AAg	p.P55K		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	55	Testis-specific N-terminal extension.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.P55K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAAGCCACCACCGCCACCACTG	0.614																																							uc002oaf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(163-165)CCG>AAG		glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)																																			SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36027810_36027811CC>AA	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		Exception_encountered	19.37:g.36027810_36027811delinsAA	ENSP00000222286:p.Pro55Lys						p.P55K	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	279_280	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		55					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	DNP	ENST00000222286.4	37	c.163_164CC>AA	CCDS12465.1																																																																																				0.614	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		24	144	0	0	0	0.004672	0	24	144				
ATP4A	495	broad.mit.edu	37	19	36050770	36050770	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36050770G>A	ENST00000262623.3	-	7	1021	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A331A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGAAGACCATGGCCCGCAGGA	0.587																																							uc002oal.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(991-993)GCC>GCT		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						81.0	67.0	71.0					19																	36050770		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050770G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.993C>T	19.37:g.36050770G>A						ATP4A_uc010eee.1_5'Flank	p.A331A	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1022	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		331			Lumenal (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.993C>T	CCDS12467.1																																																																																				0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		9	59	0	0	0	0.006214	0	9	59				
KIRREL2	84063	broad.mit.edu	37	19	36350479	36350479	+	Silent	SNP	C	C	A	rs373013011		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36350479C>A	ENST00000360202.5	+	5	817	c.619C>A	c.(619-621)Cgg>Agg	p.R207R	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.R157R|KIRREL2_ENST00000592409.1_Silent_p.R207R|KIRREL2_ENST00000262625.7_Silent_p.R207R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.R207R(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCGGGCCCGGAGCCAGGC	0.627																																							uc002ocb.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(619-621)CGG>AGG		kin of IRRE-like 2 isoform c							63.0	62.0	62.0					19																	36350479		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36350479C>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.619C>A	19.37:g.36350479C>A						KIRREL2_uc002obz.3_Silent_p.R207R|KIRREL2_uc002oca.3_Silent_p.R157R|KIRREL2_uc002occ.3_Silent_p.R154R|KIRREL2_uc002ocd.3_Silent_p.R204R	p.R207R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	831	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		207			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.619C>A	CCDS12481.1																																																																																				0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		27	114	1	0	2.91434e-09	0.004878	4.04472e-09	27	114				
HCST	10870	broad.mit.edu	37	19	36394806	36394806	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36394806G>T	ENST00000246551.4	+	3	355		c.e3+1		HCST_ENST00000437550.2_Splice_Site|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer						positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)	p.?(1)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCCCAAGGTGAGGGCGGA	0.716																																							uc002ocl.1		NA																	1	Unknown(1)		lung(1)		0						c.e3+1		hematopoietic cell signal transducer isoform 1							12.0	13.0	13.0					19																	36394806		2188	4256	6444	SO:0001630	splice_region_variant	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36394806G>T	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.241+1G>T	19.37:g.36394806G>T						HCST_uc002ock.1_Splice_Site_p.D81_splice	p.E81_splice	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	355	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)							Q9UBS1|Q9Y3Y0	Splice_Site	SNP	ENST00000246551.4	37	c.241_splice	CCDS32998.1	.	.	.	.	.	.	.	.	.	.	G	8.411	0.844204	0.16963	.	.	ENSG00000126264	ENST00000246551;ENST00000437550	.	.	.	4.97	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.47476	D	0.999434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7685	0.40576	0.0993:0.0:0.9007:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCST	41086646	1.000000	0.71417	0.996000	0.52242	0.069000	0.16628	2.853000	0.48317	2.279000	0.76181	0.655000	0.94253	.		0.716	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266	Intron	6	40	1	0	0.00307968	0.00308	0.00327966	6	40				
CLIP3	25999	broad.mit.edu	37	19	36517911	36517911	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36517911C>T	ENST00000360535.4	-	4	570	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.G115R	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	115					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G115R(2)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCGGTCAGCCCGTCACGATCG	0.632																																							uc010eeq.1		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(343-345)GGG>AGG		CAP-GLY domain containing linker protein 3							86.0	76.0	79.0					19																	36517911		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517911C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.343G>A	19.37:g.36517911C>T	ENSP00000353732:p.Gly115Arg					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.G115R	p.G115R	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	625	-	Esophageal squamous(110;0.162)		115					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.343G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189050	0.94923	.	.	ENSG00000105270	ENST00000360535;ENST00000534959	T	0.52057	0.68	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.65792	-0.6082	10	0.87932	D	0	-25.4337	16.414	0.83728	0.0:1.0:0.0:0.0	.	115	Q96DZ5	CLIP3_HUMAN	R	115;91	ENSP00000353732:G115R	ENSP00000353732:G115R	G	-	1	0	CLIP3	41209751	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.452000	0.80683	2.465000	0.83290	0.455000	0.32223	GGG		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		8	74	0	0	0	0.001855	0	8	74				
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	T	rs375320861		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:38899416G>T	ENST00000252530.5	+	8	963	c.944G>T	c.(943-945)cGg>cTg	p.R315L	FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L|FAM98C_ENST00000588262.1_Silent_p.P181P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																							uc002oin.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(943-945)CGG>CTG		hypothetical protein LOC147965							57.0	62.0	61.0					19																	38899416		1832	4072	5904	SO:0001583	missense	147965							g.chr19:38899416G>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944G>T	19.37:g.38899416G>T	ENSP00000252530:p.Arg315Leu					FAM98C_uc002oio.1_Missense_Mutation_p.R233L|FAM98C_uc010xtz.1_Silent_p.P181P	p.R315L	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.944G>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924758	0.92319	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.59772	0.24;0.24	5.92	5.92	0.95590	.	3.077830	0.01239	N	0.008560	D	0.84120	0.5402	M	0.86864	2.845	0.37571	D	0.919448	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.68503	-0.5391	10	0.87932	D	0	-15.9732	17.8152	0.88630	0.0:0.0:1.0:0.0	.	233;315	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	L	315;233	ENSP00000252530:R315L;ENSP00000340348:R233L	ENSP00000252530:R315L	R	+	2	0	FAM98C	43591256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.524000	0.53495	2.804000	0.96469	0.655000	0.94253	CGG		0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		36	130	1	0	2.24893e-16	0.009718	3.84193e-16	36	130				
CEACAM5	1048	broad.mit.edu	37	19	42221645	42221645	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:42221645T>G	ENST00000221992.6	+	5	1344	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CEACAM5_ENST00000405816.1_Missense_Mutation_p.N410K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.N409K|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	410	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N410K(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCATCCTGAATGTCCTCTGTG	0.517																																							uc002ork.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1228-1230)AAT>AAG		carcinoembryonic antigen-related cell adhesion							174.0	165.0	168.0					19																	42221645		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221645T>G	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1230T>G	19.37:g.42221645T>G	ENSP00000221992:p.Asn410Lys					CEACAM5_uc002orj.1_Missense_Mutation_p.N409K|CEACAM5_uc002orl.2_Missense_Mutation_p.N410K	p.N410K	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1351	+			410			Ig-like 4.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1230T>G	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.97|11.97	1.798329|1.798329	0.31777|0.31777	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.41065	.|1.01;1.01	2.45|2.45	0.494|0.494	0.16884|0.16884	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.56077|0.56077	0.1961|0.1961	M|M	0.82923|0.82923	2.615|2.615	0.09310|0.09310	N|N	1|1	.|D;B	.|0.71674	.|0.998;0.352	.|D;B	.|0.75484	.|0.986;0.437	T|T	0.50915|0.50915	-0.8771|-0.8771	5|9	.|0.11182	.|T	.|0.66	.|.	4.434|4.434	0.11542|0.11542	0.0:0.3396:0.0:0.6604|0.0:0.3396:0.0:0.6604	.|.	.|410;410	.|P06731;Q53G30	.|CEAM5_HUMAN;.	G|K	406|410;410;128	.|ENSP00000221992:N410K;ENSP00000385072:N410K	.|ENSP00000221992:N410K	C|N	+|+	1|3	0|2	CEACAM5|CEACAM5	46913485|46913485	0.085000|0.085000	0.21516|0.21516	0.040000|0.040000	0.18447|0.18447	0.062000|0.062000	0.15995|0.15995	-0.192000|-0.192000	0.09587|0.09587	-0.096000|-0.096000	0.12329|0.12329	0.473000|0.473000	0.43528|0.43528	TGT|AAT		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		45	245	0	0	0	0.00361	0	45	245				
PSG8	440533	broad.mit.edu	37	19	43268410	43268410	+	Missense_Mutation	SNP	G	G	T	rs370580594	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:43268410G>T	ENST00000306511.4	-	2	185	c.88C>A	c.(88-90)Cca>Aca	p.P30T	PSG8_ENST00000401467.2_Missense_Mutation_p.P30T|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.P30T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	30						extracellular region (GO:0005576)		p.P30T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTCGTGGGTGGGTTCCAGAAG	0.483																																							uc002ouo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CCA>ACA		pregnancy specific beta-1-glycoprotein 8 isoform							148.0	148.0	148.0					19																	43268410		2203	4300	6503	SO:0001583	missense	440533					extracellular region		g.chr19:43268410G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.88C>A	19.37:g.43268410G>T	ENSP00000305005:p.Pro30Thr					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.P30T|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.P30T|PSG8_uc002oum.3_Missense_Mutation_p.P30T|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.P30T	p.P30T	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	186	-		Prostate(69;0.00899)	30					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.88C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	2.869	-0.234448	0.05983	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.18657	2.2;3.31;2.21	1.35	0.255	0.15561	.	.	.	.	.	T	0.24624	0.0597	M	0.72576	2.205	0.09310	N	1	B;B;B;B;B	0.25272	0.122;0.0;0.033;0.001;0.002	B;B;B;B;B	0.35312	0.2;0.006;0.111;0.016;0.028	T	0.38001	-0.9681	9	0.46703	T	0.11	.	4.8185	0.13378	0.0:0.0:0.6379:0.3621	.	30;30;30;30;30	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	T	30	ENSP00000385869:P30T;ENSP00000386090:P30T;ENSP00000305005:P30T	ENSP00000305005:P30T	P	-	1	0	PSG8	47960250	0.008000	0.16893	0.043000	0.18650	0.007000	0.05969	0.096000	0.15147	0.148000	0.19059	-1.277000	0.01392	CCA		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			78	303	1	0	5.88917e-42	0.00361	1.16248e-41	78	303				
PSG5	5673	broad.mit.edu	37	19	43680093	43680093	+	Missense_Mutation	SNP	C	C	A	rs562490007	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:43680093C>A	ENST00000366175.3	-	3	768	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PSG5_ENST00000407356.1_Missense_Mutation_p.G213V|PSG5_ENST00000342951.6_Missense_Mutation_p.G213V|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.G213V|PSG5_ENST00000599812.1_Missense_Mutation_p.G306V			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	213	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G213V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCATAGGGTCCTGTTTCATT	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		21242	0.003		0.0	False		,,,				2504	0.0						uc002ovu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(637-639)GGA>GTA		pregnancy specific beta-1-glycoprotein 5							142.0	140.0	140.0					19																	43680093		2201	4295	6496	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43680093C>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.638G>T	19.37:g.43680093C>A	ENSP00000382334:p.Gly213Val					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.G213V|PSG5_uc002ovv.2_Missense_Mutation_p.G306V|PSG5_uc002ovw.2_Intron	p.G213V	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	769	-		Prostate(69;0.00899)	213			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.638G>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001378	0.35320	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	1.08	1.08	0.20341	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42921	0.1224	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.39702	-0.9601	9	0.87932	D	0	.	5.4258	0.16425	0.0:1.0:0.0:0.0	.	306;213	Q15228;Q15238	.;PSG5_HUMAN	V	213	ENSP00000382334:G213V;ENSP00000386008:G213V;ENSP00000344413:G213V;ENSP00000385250:G213V	ENSP00000344413:G213V	G	-	2	0	PSG5	48371933	0.223000	0.23663	0.384000	0.26145	0.032000	0.12392	2.069000	0.41481	0.504000	0.28082	0.184000	0.17185	GGA		0.517	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		80	221	1	0	1.01947e-62	0.00361	2.03274e-62	80	221				
XRCC1	7515	broad.mit.edu	37	19	44058904	44058904	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44058904G>C	ENST00000262887.5	-	4	855	c.308C>G	c.(307-309)tCa>tGa	p.S103*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.S72*|L34079.2_ENST00000594374.1_Silent_p.L111L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	103					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.S103*(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GTTGGGGTTTGAGCCACTGCG	0.602								Other BER factors																															uc002owt.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(307-309)TCA>TGA	Other_BER_factors	X-ray repair cross complementing protein 1							101.0	108.0	106.0					19																	44058904		2203	4300	6503	SO:0001587	stop_gained	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44058904G>C	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.308C>G	19.37:g.44058904G>C	ENSP00000262887:p.Ser103*					XRCC1_uc010xwp.1_Nonsense_Mutation_p.S72*	p.S103*	NM_006297	NP_006288	P18887	XRCC1_HUMAN			4	428	-		Prostate(69;0.0153)	103					Q6IBS4|Q9HCB1	Nonsense_Mutation	SNP	ENST00000262887.5	37	c.308C>G	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072823	0.76415	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	.	.	.	4.92	3.88	0.44766	.	0.259165	0.36778	N	0.002418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.3577	7.8389	0.29387	0.0892:0.1624:0.7484:0.0	.	.	.	.	X	117;103;72;103	.	ENSP00000262887:S103X	S	-	2	0	XRCC1	48750744	1.000000	0.71417	0.975000	0.42487	0.463000	0.32649	4.611000	0.61162	1.383000	0.46405	-0.219000	0.12488	TCA		0.602	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		30	276	0	0	0	0.002836	0	30	276				
IRGC	56269	broad.mit.edu	37	19	44222873	44222873	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44222873C>G	ENST00000244314.5	+	2	362	c.163C>G	c.(163-165)Ctg>Gtg	p.L55V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	55	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.L55V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AAGCATCCGCCTGGAGGTGGG	0.706																																					Colon(189;350 2037 11447 13433 38914)	Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(163-165)CTG>GTG		immunity-related GTPase family, cinema							38.0	43.0	41.0					19																	44222873		2201	4297	6498	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222873C>G	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.163C>G	19.37:g.44222873C>G	ENSP00000244314:p.Leu55Val						p.L55V	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	310	+		Prostate(69;0.0435)	55					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.163C>G	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316130	0.60524	.	.	ENSG00000124449	ENST00000244314	T	0.24151	1.87	5.45	4.38	0.52667	.	0.000000	0.64402	D	0.000008	T	0.28366	0.0701	L	0.41079	1.255	0.44073	D	0.996821	P	0.49447	0.924	P	0.52909	0.713	T	0.02789	-1.1110	10	0.34782	T	0.22	.	6.8294	0.23900	0.1769:0.7354:0.0:0.0877	.	55	Q6NXR0	IIGP5_HUMAN	V	55	ENSP00000244314:L55V	ENSP00000244314:L55V	L	+	1	2	IRGC	48914713	0.994000	0.37717	0.907000	0.35723	0.654000	0.38779	3.224000	0.51238	1.246000	0.43901	0.555000	0.69702	CTG		0.706	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		17	75	0	0	0	0.00278	0	17	75				
ZNF404	342908	broad.mit.edu	37	19	44377026	44377026	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44377026G>T	ENST00000587539.1	-	3	1339	c.1340C>A	c.(1339-1341)aCc>aAc	p.T447N	ZNF404_ENST00000324394.6_Missense_Mutation_p.T445N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	447					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.T445N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGTCTAAAGGTTTTTCCACA	0.373																																							uc002oxs.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)ACC>AAC		zinc finger protein 404							40.0	44.0	42.0					19																	44377026		2181	4286	6467	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377026G>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1340C>A	19.37:g.44377026G>T	ENSP00000466051:p.Thr447Asn						p.T444N	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	1340	-		Prostate(69;0.0352)	447			C2H2-type 12.		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1331C>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256222	0.39896	.	.	ENSG00000176222	ENST00000324394	T	0.20738	2.05	2.17	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19805	0.0476	L	0.52206	1.635	0.20563	N	0.999887	P	0.43314	0.803	B	0.43251	0.413	T	0.14643	-1.0465	9	0.72032	D	0.01	.	4.382	0.11299	0.1569:0.4121:0.431:0.0	.	447	Q494X3	ZN404_HUMAN	N	445	ENSP00000319479:T445N	ENSP00000319479:T445N	T	-	2	0	ZNF404	49068866	0.000000	0.05858	0.998000	0.56505	0.941000	0.58515	0.137000	0.15995	0.232000	0.21100	0.404000	0.27445	ACC		0.373	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		4	9	1	0	0.00909568	0.009096	0.00951132	4	9				
ZNF155	7711	broad.mit.edu	37	19	44500732	44500732	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44500732C>G	ENST00000270014.2	+	5	851	c.723C>G	c.(721-723)ttC>ttG	p.F241L	ZNF155_ENST00000407951.2_Missense_Mutation_p.F252L|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.F241L	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	241					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.F241L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAAGGTTTCAGTCGTAGAT	0.433																																					NSCLC(61;554 1277 20909 42067 42312)	NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(721-723)TTC>TTG		zinc finger protein 155							135.0	133.0	134.0					19																	44500732		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500732C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.723C>G	19.37:g.44500732C>G	ENSP00000270014:p.Phe241Leu					ZNF155_uc002oxz.1_Missense_Mutation_p.F241L|ZNF155_uc010xwt.1_Missense_Mutation_p.F252L	p.F241L	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	928	+		Prostate(69;0.0352)	241			C2H2-type 3.		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.723C>G	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481359|2.481359	0.44147|0.44147	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.46063|.	0.88;0.88|.	2.59|2.59	1.54|1.54	0.23209|0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.48960|.	0.1529|.	M|M	0.86651|0.86651	2.83|2.83	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|.	0.51980|.	-0.8636|.	9|.	0.87932|0.02654	D|T	0|1	.|.	5.8739|5.8739	0.18819|0.18819	0.0:0.7238:0.0:0.2762|0.0:0.7238:0.0:0.2762	.|.	252;241|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|X	252;241|115	ENSP00000385163:F252L;ENSP00000270014:F241L|.	ENSP00000270014:F241L|ENSP00000401576:S115X	F|S	+|+	3|2	2|0	ZNF155|ZNF155	49192572|49192572	0.005000|0.005000	0.15991|0.15991	0.011000|0.011000	0.14972|0.14972	0.137000|0.137000	0.21094|0.21094	0.073000|0.073000	0.14640|0.14640	1.430000|1.430000	0.47334|0.47334	0.462000|0.462000	0.41574|0.41574	TTC|TCA		0.433	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		42	174	0	0	0	0.00874	0	42	174				
ZNF234	10780	broad.mit.edu	37	19	44661726	44661726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44661726G>T	ENST00000426739.2	+	6	1815	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	ZNF234_ENST00000592437.1_Missense_Mutation_p.K519N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	519					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.K519N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGTGTGGGAAGGTCTTCAGTC	0.458																																							uc002oym.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1555-1557)AAG>AAT		zinc finger protein 234							85.0	92.0	89.0					19																	44661726		2182	4285	6467	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661726G>T	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.1557G>T	19.37:g.44661726G>T	ENSP00000400878:p.Lys519Asn					ZNF234_uc002oyl.3_Missense_Mutation_p.K519N	p.K519N	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1864	+		Prostate(69;0.0435)	519			C2H2-type 14.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1557G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855241	0.51376	.	.	ENSG00000167380	ENST00000426739	T	0.27890	1.64	4.03	-4.94	0.03057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51058	0.1652	M	0.79258	2.445	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.52741	-0.8535	9	0.87932	D	0	.	11.7075	0.51605	0.5937:0.0:0.4063:0.0	.	519	Q14588	ZN234_HUMAN	N	519	ENSP00000400878:K519N	ENSP00000400878:K519N	K	+	3	2	ZNF226	49353566	0.000000	0.05858	0.285000	0.24819	0.986000	0.74619	-1.104000	0.03326	-0.809000	0.04381	-0.218000	0.12543	AAG		0.458	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			39	95	1	0	7.63091e-17	0.007835	1.31273e-16	39	95				
ZNF229	7772	broad.mit.edu	37	19	44936498	44936498	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44936498T>G	ENST00000588931.1	-	5	570	c.137A>C	c.(136-138)gAg>gCg	p.E46A	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.E46A	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	46	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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E46A(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTAGCTCCTCCTCAGTGAA	0.478																																							uc002oze.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(136-138)GAG>GCG		zinc finger protein 229							103.0	110.0	107.0					19																	44936498		2203	4300	6503	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44936498T>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.137A>C	19.37:g.44936498T>G	ENSP00000466519:p.Glu46Ala					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.E46A	p.E46A	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	571	-		Prostate(69;0.0352)	46			KRAB.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.137A>C	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757217	0.69648	.	.	ENSG00000167383	ENST00000291187	T	0.03717	3.83	3.61	2.54	0.30619	Krueppel-associated box (4);	.	.	.	.	T	0.13628	0.0330	M	0.92317	3.295	0.23138	N	0.998235	P	0.47484	0.896	P	0.48400	0.576	T	0.07121	-1.0789	9	0.62326	D	0.03	.	9.025	0.36224	0.0:0.0:0.1871:0.8128	.	46	Q9UJW7	ZN229_HUMAN	A	46	ENSP00000291187:E46A	ENSP00000291187:E46A	E	-	2	0	ZNF229	49628338	0.880000	0.30214	0.997000	0.53966	0.983000	0.72400	1.340000	0.33896	0.351000	0.24027	0.421000	0.28195	GAG		0.478	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		26	171	0	0	0	0.002836	0	26	171				
PPP1R15A	23645	broad.mit.edu	37	19	49376908	49376908	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49376908G>T	ENST00000200453.5	+	2	687	c.418G>T	c.(418-420)Gct>Tct	p.A140S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	140					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.A140S(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)		TGGCCAGCGTGCTCCCCTGTC	0.552																																							uc002pky.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(418-420)GCT>TCT		protein phosphatase 1, regulatory subunit 15A							186.0	168.0	174.0					19																	49376908		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376908G>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.418G>T	19.37:g.49376908G>T	ENSP00000200453:p.Ala140Ser						p.A140S	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	687	+		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)	140			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.418G>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432669	0.43224	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.05447	3.44	4.14	1.96	0.26148	.	1.082790	0.07125	N	0.844488	T	0.06508	0.0167	L	0.48642	1.525	0.09310	N	0.999999	B	0.33266	0.404	B	0.34452	0.183	T	0.44003	-0.9356	10	0.16896	T	0.51	-8.629	4.5055	0.11885	0.1167:0.0:0.6638:0.2195	.	140	O75807	PR15A_HUMAN	S	140;98	ENSP00000200453:A140S	ENSP00000200453:A140S	A	+	1	0	PPP1R15A	54068720	0.002000	0.14202	0.146000	0.22360	0.047000	0.14425	0.509000	0.22707	0.667000	0.31107	-0.314000	0.08810	GCT		0.552	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		23	288	1	0	6.21321e-17	0.00278	1.06978e-16	23	288				
HRC	3270	broad.mit.edu	37	19	49657621	49657621	+	Missense_Mutation	SNP	C	C	T	rs528365011	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49657621C>T	ENST00000252825.4	-	1	1060	c.874G>A	c.(874-876)Gac>Aac	p.D292N	HRC_ENST00000595625.1_Missense_Mutation_p.D292N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	292	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.D292N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCTGGGGTCGCGATGATGG	0.517													T|||	171	0.0341454	0.115	0.013	5008	,	,		21777	0.0		0.007	False		,,,				2504	0.0031				Melanoma(37;75 1097 24567 25669 30645)	Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)GAC>AAC		histidine rich calcium binding protein							160.0	124.0	136.0					19																	49657621		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657621C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.874G>A	19.37:g.49657621C>T	ENSP00000252825:p.Asp292Asn						p.D292N	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1061	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	292			2-5.|6 X approximate tandem repeats.|4 X tandem repeats, acidic.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.874G>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	3.986	-0.005476	0.07773	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.30448	1.53	2.93	-0.496	0.12027	.	.	.	.	.	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.16722	0.016	T	0.29088	-1.0023	9	0.18710	T	0.47	0.6131	6.3715	0.21483	0.0:0.5461:0.0:0.4539	.	292	P23327	SRCH_HUMAN	N	292;262	ENSP00000252825:D292N	ENSP00000252825:D292N	D	-	1	0	HRC	54349433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.166000	0.10890	-1.295000	0.01343	GAC		0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		19	64	0	0	0	0.007413	0	19	64				
ALDH16A1	126133	broad.mit.edu	37	19	49964950	49964950	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49964950G>T	ENST00000293350.4	+	6	815	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G53C|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G55C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G218C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	218						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G218C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGGGAGCTGGGCCCCTTCCC	0.721																																							uc002pnt.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)GGC>TGC		aldehyde dehydrogenase 16 family, member A1							12.0	13.0	13.0					19																	49964950		2191	4287	6478	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49964950G>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.652G>T	19.37:g.49964950G>T	ENSP00000293350:p.Gly218Cys					ALDH16A1_uc010yar.1_Missense_Mutation_p.G218C|ALDH16A1_uc010yas.1_Missense_Mutation_p.G53C|ALDH16A1_uc010yat.1_Missense_Mutation_p.G55C	p.G218C	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	6	768	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	218					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.652G>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568520	0.28003	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.61	3.56	0.40772	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.158290	0.56097	D	0.000032	T	0.75781	0.3896	M	0.90977	3.165	0.09310	N	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68895	-0.5288	10	0.87932	D	0	-6.5146	11.4721	0.50275	0.0:0.1823:0.8177:0.0	.	55;218;218	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	218;218;55;53	ENSP00000293350:G218C;ENSP00000410142:G218C;ENSP00000445088:G55C;ENSP00000398675:G53C	ENSP00000293350:G218C	G	+	1	0	ALDH16A1	54656762	0.213000	0.23551	0.012000	0.15200	0.003000	0.03518	1.942000	0.40243	1.259000	0.44117	0.585000	0.79938	GGC		0.721	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		5	11	1	0	8.12818e-05	0.001984	9.2732e-05	5	11				
NUP62	23636	broad.mit.edu	37	19	50412420	50412420	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:50412420G>T	ENST00000596217.1	-	2	2532	c.645C>A	c.(643-645)acC>acA	p.T215T	NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000422090.2_Silent_p.T215T|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.T215T|NUP62_ENST00000352066.3_Silent_p.T215T|NUP62_ENST00000597723.1_Silent_p.T215T|NUP62_ENST00000413454.1_Silent_p.T215T			P37198	NUP62_HUMAN	nucleoporin 62kDa	215	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.T215T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCCCAGTGCTGGTGATGGTGG	0.652																																							uc002pqx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)ACC>ACA		nucleoporin 62kDa							83.0	78.0	80.0					19																	50412420		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412420G>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.645C>A	19.37:g.50412420G>T						IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.T215T|NUP62_uc002pqz.2_Silent_p.T215T|NUP62_uc002pra.2_Silent_p.T215T|NUP62_uc002prb.2_Silent_p.T215T|NUP62_uc002prc.2_Silent_p.T215T	p.T215T	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	749	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	215			15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.645C>A	CCDS12788.1																																																																																				0.652	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		45	126	1	0	1.45723e-30	0.00361	2.80335e-30	45	126				
GPR32	2854	broad.mit.edu	37	19	51274316	51274316	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:51274316C>T	ENST00000270590.4	+	1	596	c.459C>T	c.(457-459)cgC>cgT	p.R153R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	153					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R153R(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGAACCACCGCACTGTGCAGC	0.587																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(457-459)CGC>CGT		G protein-coupled receptor 32							100.0	102.0	102.0					19																	51274316		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274316C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.459C>T	19.37:g.51274316C>T							p.R153R	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	459	+		all_neural(266;0.131)	153			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.459C>T	CCDS12801.1																																																																																				0.587	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			59	122	0	0	0	0.00361	0	59	122				
GPR32	2854	broad.mit.edu	37	19	51274424	51274424	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:51274424G>T	ENST00000270590.4	+	1	704	c.567G>T	c.(565-567)acG>acT	p.T189T		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	189					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T189T(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGGCTGTACGCACTGCTACT	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(565-567)ACG>ACT		G protein-coupled receptor 32							58.0	54.0	55.0					19																	51274424		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274424G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.567G>T	19.37:g.51274424G>T							p.T189T	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	567	+		all_neural(266;0.131)	189			Extracellular (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.567G>T	CCDS12801.1																																																																																				0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			9	79	1	0	0.00448238	0.004482	0.00475543	9	79				
FPR2	2358	broad.mit.edu	37	19	52272029	52272029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52272029G>T	ENST00000598776.1	+	2	890	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W	FPR2_ENST00000598953.1_Missense_Mutation_p.G40W|FPR2_ENST00000340023.6_Missense_Mutation_p.G40W	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	40					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.G40W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTTGTCCTCGGGGTCCTGGG	0.547																																							uc002pxr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(118-120)GGG>TGG		formyl peptide receptor-like 1							174.0	143.0	154.0					19																	52272029		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272029G>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.118G>T	19.37:g.52272029G>T	ENSP00000468897:p.Gly40Trp					FPR2_uc002pxs.3_Missense_Mutation_p.G40W|FPR2_uc010epf.2_Missense_Mutation_p.G40W	p.G40W	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	163	+			40			Helical; Name=1; (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.118G>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	17.05	3.290398	0.59976	.	.	ENSG00000171049	ENST00000340023	T	0.53857	0.6	3.61	3.61	0.41365	.	0.000000	0.64402	U	0.000001	T	0.51669	0.1688	N	0.08118	0	0.52099	D	0.999942	D	0.89917	1.0	D	0.91635	0.999	T	0.62291	-0.6885	10	0.87932	D	0	.	13.1019	0.59224	0.0:0.0:1.0:0.0	.	40	P25090	FPR2_HUMAN	W	40	ENSP00000340191:G40W	ENSP00000340191:G40W	G	+	1	0	FPR2	56963841	1.000000	0.71417	0.229000	0.23960	0.489000	0.33432	8.817000	0.91985	2.042000	0.60477	0.491000	0.48974	GGG		0.547	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		33	90	1	0	2.20474e-14	0.003755	3.60375e-14	33	90				
FPR2	2358	broad.mit.edu	37	19	52272799	52272799	+	Nonsense_Mutation	SNP	C	C	A	rs200897681		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52272799C>A	ENST00000598776.1	+	2	1660	c.888C>A	c.(886-888)tgC>tgA	p.C296*	FPR2_ENST00000598953.1_Nonsense_Mutation_p.C296*|FPR2_ENST00000340023.6_Nonsense_Mutation_p.C296*	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	296					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.C296*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAACAGCTGCCTCAACCCCA	0.537																																							uc002pxr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)	4						c.(886-888)TGC>TGA		formyl peptide receptor-like 1							122.0	113.0	116.0					19																	52272799		2203	4300	6503	SO:0001587	stop_gained	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272799C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.888C>A	19.37:g.52272799C>A	ENSP00000468897:p.Cys296*					FPR2_uc002pxs.3_Nonsense_Mutation_p.C296*|FPR2_uc010epf.2_Nonsense_Mutation_p.C296*	p.C296*	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	933	+			296			Helical; Name=7; (Potential).		A8K3E2	Nonsense_Mutation	SNP	ENST00000598776.1	37	c.888C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	38	6.923758	0.97936	.	.	ENSG00000171049	ENST00000340023	.	.	.	3.96	2.92	0.33932	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2938	0.37802	0.0:0.8907:0.0:0.1093	.	.	.	.	X	296	.	ENSP00000340191:C296X	C	+	3	2	FPR2	56964611	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.730000	0.47335	1.020000	0.39573	0.484000	0.47621	TGC		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		29	120	1	0	1.26612e-14	0.003271	2.08512e-14	29	120				
ZNF649	65251	broad.mit.edu	37	19	52394293	52394293	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52394293T>A	ENST00000354957.3	-	5	1380	c.1096A>T	c.(1096-1098)Aga>Tga	p.R366*	ZNF649_ENST00000600738.1_Nonsense_Mutation_p.R338*|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R366*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTATGATATCTCTGATGTGCT	0.448																																							uc002pxy.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1096-1098)AGA>TGA		zinc finger protein 649							120.0	109.0	112.0					19																	52394293		2203	4300	6503	SO:0001587	stop_gained	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394293T>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1096A>T	19.37:g.52394293T>A	ENSP00000347043:p.Arg366*					ZNF577_uc010ydf.1_5'Flank	p.R366*	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1364	-		all_neural(266;0.0602)	366			C2H2-type 7.		A8MYJ5|B2RDC4|Q9H9N2	Nonsense_Mutation	SNP	ENST00000354957.3	37	c.1096A>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	35	5.561947	0.96527	.	.	ENSG00000198093	ENST00000354957	.	.	.	2.63	-0.346	0.12620	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9211	0.41464	0.0:0.0:0.2113:0.7887	.	.	.	.	X	366	.	ENSP00000347043:R366X	R	-	1	2	ZNF649	57086105	0.000000	0.05858	0.034000	0.17996	0.065000	0.16274	-0.694000	0.05115	-0.526000	0.06383	0.332000	0.21555	AGA		0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		26	77	0	0	0	0.007291	0	26	77				
ZNF432	9668	broad.mit.edu	37	19	52537917	52537917	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52537917G>C	ENST00000594154.1	-	5	1227	c.1015C>G	c.(1015-1017)Cat>Gat	p.H339D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H339D			O94892	ZN432_HUMAN	zinc finger protein 432	339					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.H339D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.408																																							uc002pyk.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(1)	3						c.(1015-1017)CAT>GAT		zinc finger protein 432							116.0	104.0	108.0					19																	52537917		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537917G>C	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1015C>G	19.37:g.52537917G>C	ENSP00000470488:p.His339Asp						p.H339D	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1333	-		all_neural(266;0.117)	339			C2H2-type 5.			Missense_Mutation	SNP	ENST00000594154.1	37	c.1015C>G	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491556	0.64074	.	.	ENSG00000256087	ENST00000221315	T	0.67698	-0.28	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85754	0.5770	H	0.95816	3.725	0.34392	D	0.694337	D	0.63880	0.993	D	0.77004	0.989	D	0.92002	0.5611	9	0.87932	D	0	.	12.9715	0.58515	0.0:0.0:1.0:0.0	.	339	O94892	ZN432_HUMAN	D	339	ENSP00000221315:H339D	ENSP00000221315:H339D	H	-	1	0	ZNF432	57229729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.310000	0.89971	1.630000	0.50440	0.585000	0.79938	CAT		0.408	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		16	106	0	0	0	0.004007	0	16	106				
ZNF480	147657	broad.mit.edu	37	19	52825630	52825630	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52825630G>T	ENST00000595962.1	+	5	1193	c.1127G>T	c.(1126-1128)tGt>tTt	p.C376F	ZNF480_ENST00000335090.6_Missense_Mutation_p.C299F|ZNF480_ENST00000334564.7_Missense_Mutation_p.C333F|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.C376F(1)|p.C357F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAATGAATGTGGAAAGGTC	0.358																																							uc010ydl.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1126-1128)TGT>TTT		zinc finger protein 480							57.0	62.0	60.0					19																	52825630		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825630G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1127G>T	19.37:g.52825630G>T	ENSP00000471754:p.Cys376Phe					ZNF480_uc002pyv.2_Missense_Mutation_p.C299F|ZNF480_uc010ydm.1_Missense_Mutation_p.C333F|ZNF480_uc010epn.2_Missense_Mutation_p.C207F|uc002pyw.1_Intron	p.C376F	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1197	+			376			C2H2-type 7.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1127G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365776	0.41902	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	D;D;D	0.85861	-2.04;-2.04;-2.04	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94321	0.8175	H	0.98426	4.23	0.32288	N	0.566664	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91857	0.5496	9	0.87932	D	0	.	6.8217	0.23861	0.1533:0.0:0.8467:0.0	.	333;376	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	376;333;299	ENSP00000417424:C376F;ENSP00000334164:C333F;ENSP00000335670:C299F	ENSP00000334164:C333F	C	+	2	0	ZNF480	57517442	1.000000	0.71417	0.106000	0.21319	0.023000	0.10783	5.843000	0.69424	1.225000	0.43566	0.461000	0.40582	TGT		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		19	67	1	0	6.94344e-10	0.006122	9.90913e-10	19	67				
VN1R4	317703	broad.mit.edu	37	19	53770647	53770647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:53770647C>T	ENST00000311170.4	-	1	325	c.272G>A	c.(271-273)aGg>aAg	p.R91K	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	91					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.R91K(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGACACTCCCCTGCCCACTCT	0.507										HNSCC(26;0.072)																													uc010ydu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(271-273)AGG>AAG		vomeronasal 1 receptor 4							23.0	23.0	23.0					19																	53770647		2203	4296	6499	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770647C>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.272G>A	19.37:g.53770647C>T	ENSP00000310856:p.Arg91Lys	HNSCC(26;0.072)					p.R91K	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	272	-			91			Helical; Name=3; (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.272G>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410425	0.25465	.	.	ENSG00000228567	ENST00000311170	T	0.14516	2.5	2.28	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.191887	0.25532	N	0.030039	T	0.40619	0.1124	H	0.94698	3.57	0.09310	N	1	D	0.65815	0.995	D	0.67900	0.954	T	0.18461	-1.0336	10	0.66056	D	0.02	.	7.0279	0.24950	0.0:0.8482:0.0:0.1518	.	91	Q7Z5H5	VN1R4_HUMAN	K	91	ENSP00000310856:R91K	ENSP00000310856:R91K	R	-	2	0	VN1R4	58462459	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	1.038000	0.30254	0.532000	0.28657	0.545000	0.68477	AGG		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		8	18	0	0	0	0.008291	0	8	18				
LILRB4	11006	broad.mit.edu	37	19	55175709	55175709	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:55175709T>A	ENST00000391736.1	+	6	743	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	LILRB4_ENST00000270452.2_Missense_Mutation_p.L143Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.L143Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L143Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L143Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	143	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.L143Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCCTGCTGTGTCAGTCA	0.567																																							uc002qgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(427-429)CTG>CAG		leukocyte immunoglobulin-like receptor,							106.0	98.0	100.0					19																	55175709		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175709T>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.428T>A	19.37:g.55175709T>A	ENSP00000375616:p.Leu143Gln					LILRB4_uc002qgq.2_Missense_Mutation_p.L143Q|LILRB4_uc010ers.1_Missense_Mutation_p.L56Q|LILRB4_uc002qgr.2_Missense_Mutation_p.L184Q|LILRB4_uc010ert.2_Missense_Mutation_p.L184Q|LILRB4_uc010eru.2_Missense_Mutation_p.L172Q	p.L143Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	4	790	+			143			Ig-like C2-type 2.|Extracellular (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.428T>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	T	7.094	0.572829	0.13623	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.02890	4.12;4.12;4.12;4.12;4.12;4.12	2.55	-5.1	0.02911	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	0.20764	N	0.999852	B;B;B;B;B	0.30406	0.278;0.16;0.235;0.052;0.049	B;B;B;B;B	0.31869	0.137;0.019;0.084;0.014;0.057	T	0.44019	-0.9355	9	0.29301	T	0.29	.	3.3538	0.07162	0.3649:0.0:0.1518:0.4833	.	143;143;143;143;143	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	Q	143	ENSP00000375616:L143Q;ENSP00000270452:L143Q;ENSP00000408995:L143Q;ENSP00000375614:L143Q;ENSP00000375613:L143Q;ENSP00000401962:L143Q	ENSP00000270452:L143Q	L	+	2	0	LILRB4	59867521	0.000000	0.05858	0.603000	0.28903	0.009000	0.06853	-2.500000	0.00967	-0.968000	0.03578	-0.903000	0.02851	CTG		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			22	147	0	0	0	0.010504	0	22	147				
PTPRH	5794	broad.mit.edu	37	19	55697269	55697269	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:55697269C>G	ENST00000376350.3	-	17	2884	c.2862G>C	c.(2860-2862)gtG>gtC	p.V954V	PTPRH_ENST00000263434.5_Silent_p.V776V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	954	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V954V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTTCTCCATCACTTCCTCAC	0.632																																							uc002qjq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2860-2862)GTG>GTC		protein tyrosine phosphatase, receptor type, H							109.0	92.0	98.0					19																	55697269		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55697269C>G		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2862G>C	19.37:g.55697269C>G						PTPRH_uc010esv.2_Silent_p.V776V	p.V954V	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	17	2935	-		Renal(1328;0.245)	954			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.2862G>C	CCDS33110.1																																																																																				0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			45	169	0	0	0	0.00361	0	45	169				
NLRP4	147945	broad.mit.edu	37	19	56369120	56369120	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56369120C>T	ENST00000301295.6	+	3	783	c.361C>T	c.(361-363)Cta>Tta	p.L121L	NLRP4_ENST00000346986.5_Silent_p.L121L|NLRP4_ENST00000587891.1_Silent_p.L46L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	121					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L121L(1)|p.L121I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAGATTCACCTATACTTTGA	0.473																																							uc002qmd.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(361-363)CTA>TTA		NLR family, pyrin domain containing 4							133.0	124.0	127.0					19																	56369120		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369120C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.361C>T	19.37:g.56369120C>T						NLRP4_uc002qmf.2_Silent_p.L46L|NLRP4_uc010etf.2_5'UTR	p.L121L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	783	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	121					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.361C>T	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		45	110	0	0	0	0.00361	0	45	110				
NLRP4	147945	broad.mit.edu	37	19	56369305	56369305	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56369305C>A	ENST00000301295.6	+	3	968	c.546C>A	c.(544-546)ttC>ttA	p.F182L	NLRP4_ENST00000346986.5_Missense_Mutation_p.F182L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F107L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	182	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.F182L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGATAGGTTCCTGTACACGT	0.502																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(544-546)TTC>TTA		NLR family, pyrin domain containing 4							114.0	111.0	112.0					19																	56369305		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369305C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.546C>A	19.37:g.56369305C>A	ENSP00000301295:p.Phe182Leu					NLRP4_uc002qmf.2_Missense_Mutation_p.F107L|NLRP4_uc010etf.2_Missense_Mutation_p.F13L	p.F182L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	968	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	182			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.546C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941634	0.53079	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.85088	-1.94;-1.94	4.09	4.09	0.47781	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.90721	0.7088	M	0.78637	2.42	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.976;0.998;0.998	T	0.81167	-0.1056	9	0.49607	T	0.09	.	7.9095	0.29782	0.0:0.8883:0.0:0.1117	.	182;107;182	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	182	ENSP00000301295:F182L;ENSP00000344787:F182L	ENSP00000301295:F182L	F	+	3	2	NLRP4	61061117	0.316000	0.24580	0.071000	0.20095	0.002000	0.02628	0.600000	0.24104	2.277000	0.76020	0.655000	0.94253	TTC		0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		65	153	1	0	2.04494e-18	0.00361	3.61585e-18	65	153				
NLRP13	126204	broad.mit.edu	37	19	56443578	56443578	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56443578G>T	ENST00000342929.3	-	1	99	c.100C>A	c.(100-102)Ctt>Att	p.L34I	NLRP13_ENST00000588751.1_Missense_Mutation_p.L34I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	34	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.L34I(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)		TCCAAGCAAAGCTTGAATTCC	0.562																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(100-102)CTT>ATT		NACHT, leucine rich repeat and PYD containing							71.0	70.0	70.0					19																	56443578		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443578G>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.100C>A	19.37:g.56443578G>T	ENSP00000343891:p.Leu34Ile						p.L34I	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	125	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	34			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.100C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074725	0.36566	.	.	ENSG00000173572	ENST00000342929	T	0.51325	0.71	1.97	1.97	0.26223	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.58075	0.2097	L	0.60455	1.87	0.09310	N	1	D	0.71674	0.998	D	0.81914	0.995	T	0.42361	-0.9456	9	0.26408	T	0.33	.	7.4755	0.27374	0.0:0.0:1.0:0.0	.	34	Q86W25	NAL13_HUMAN	I	34	ENSP00000343891:L34I	ENSP00000343891:L34I	L	-	1	0	NLRP13	61135390	0.528000	0.26314	0.030000	0.17652	0.008000	0.06430	1.718000	0.38001	1.422000	0.47177	0.591000	0.81541	CTT		0.562	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		34	126	1	0	3.62531e-18	0.004289	6.37018e-18	34	126				
NLRP8	126205	broad.mit.edu	37	19	56473435	56473435	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56473435C>T	ENST00000291971.3	+	4	2116	c.2045C>T	c.(2044-2046)gCg>gTg	p.A682V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A682V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	682					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A682V(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)		CCATGTAGAGCGCCAGAGAGC	0.488																																							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.(2044-2046)GCG>GTG		NLR family, pyrin domain containing 8							166.0	146.0	153.0					19																	56473435		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56473435C>T	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.2045C>T	19.37:g.56473435C>T	ENSP00000291971:p.Ala682Val					NLRP8_uc010etg.2_Missense_Mutation_p.A682V	p.A682V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2116	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	682					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2045C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	2.800	-0.249458	0.05867	.	.	ENSG00000179709	ENST00000291971	D	0.88201	-2.35	1.94	-1.7	0.08159	.	.	.	.	.	T	0.68650	0.3024	N	0.19112	0.55	0.09310	N	1	B;P	0.40553	0.181;0.721	B;B	0.26614	0.015;0.071	T	0.63377	-0.6651	9	0.13108	T	0.6	.	2.0191	0.03505	0.2593:0.3943:0.0:0.3464	.	682;682	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	682	ENSP00000291971:A682V	ENSP00000291971:A682V	A	+	2	0	NLRP8	61165247	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.040000	0.12104	-0.352000	0.08237	-0.426000	0.05927	GCG		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		51	157	0	0	0	0.00361	0	51	157				
ZSCAN5B	342933	broad.mit.edu	37	19	56701251	56701251	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56701251T>A	ENST00000586855.2	-	5	1746	c.1433A>T	c.(1432-1434)cAg>cTg	p.Q478L	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q478L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	478					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q478L(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCCCCAGCTGACGGAAGGC	0.547																																							uc010ygh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1432-1434)CAG>CTG		zinc finger and SCAN domain containing 5B							76.0	75.0	75.0					19																	56701251		2069	4241	6310	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701251T>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1433A>T	19.37:g.56701251T>A	ENSP00000466072:p.Gln478Leu						p.Q478L	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1433	-			478			C2H2-type 5.			Missense_Mutation	SNP	ENST00000586855.2	37	c.1433A>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833137	0.32421	.	.	ENSG00000197213	ENST00000358992	T	0.06068	3.35	3.22	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	L	0.28054	0.825	0.18873	N	0.999989	P	0.36616	0.561	B	0.29785	0.107	T	0.40079	-0.9582	9	0.62326	D	0.03	.	4.8883	0.13713	0.0:0.2731:0.0:0.7269	.	478	A6NJL1	ZSA5B_HUMAN	L	478	ENSP00000351883:Q478L	ENSP00000351883:Q478L	Q	-	2	0	ZSCAN5B	61393063	0.011000	0.17503	0.072000	0.20136	0.056000	0.15407	2.031000	0.41117	0.444000	0.26612	0.260000	0.18958	CAG		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		22	55	0	0	0	0.002299	0	22	55				
ZSCAN5B	342933	broad.mit.edu	37	19	56701293	56701293	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56701293T>A	ENST00000586855.2	-	5	1704	c.1391A>T	c.(1390-1392)gAg>gTg	p.E464V	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E464V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	464					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E464V(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTAGGGCTTCTCTCCGGAGTG	0.537																																							uc010ygh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1390-1392)GAG>GTG		zinc finger and SCAN domain containing 5B							82.0	83.0	83.0					19																	56701293		2088	4244	6332	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701293T>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1391A>T	19.37:g.56701293T>A	ENSP00000466072:p.Glu464Val						p.E464V	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1391	-			464						Missense_Mutation	SNP	ENST00000586855.2	37	c.1391A>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	5.394	0.257932	0.10239	.	.	ENSG00000197213	ENST00000358992	T	0.26810	1.71	3.28	-6.57	0.01842	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26919	0.0659	L	0.58925	1.835	0.09310	N	1	P	0.51057	0.941	P	0.54815	0.761	T	0.02391	-1.1166	9	0.24483	T	0.36	.	2.1835	0.03880	0.2101:0.1031:0.1572:0.5296	.	464	A6NJL1	ZSA5B_HUMAN	V	464	ENSP00000351883:E464V	ENSP00000351883:E464V	E	-	2	0	ZSCAN5B	61393105	0.048000	0.20356	0.000000	0.03702	0.004000	0.04260	2.367000	0.44213	-2.221000	0.00728	-0.467000	0.05162	GAG		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		11	66	0	0	0	0.001855	0	11	66				
ZNF667	63934	broad.mit.edu	37	19	56953439	56953439	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56953439G>T	ENST00000504904.3	-	7	1644	c.925C>A	c.(925-927)Cct>Act	p.P309T	ZNF667_ENST00000292069.6_Missense_Mutation_p.P309T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.P437T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					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.P309T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTTTCAGGGATTTTCTCT	0.333																																							uc002qnd.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(925-927)CCT>ACT		zinc finger protein 667							94.0	97.0	96.0					19																	56953439		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953439G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.925C>A	19.37:g.56953439G>T	ENSP00000439402:p.Pro309Thr					ZNF667_uc010etl.2_Missense_Mutation_p.P91T|ZNF667_uc002qne.2_Missense_Mutation_p.P309T|ZNF667_uc010etm.2_Missense_Mutation_p.P252T	p.P309T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1087	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	309					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.925C>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.207892	0.01568	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.05199	3.48;3.53;3.53	4.8	0.0325	0.14176	.	1.489680	0.04194	N	0.328744	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	B;B	0.19935	0.04;0.023	B;B	0.14578	0.011;0.007	T	0.41980	-0.9478	10	0.15066	T	0.55	0.1891	2.8888	0.05670	0.3985:0.0:0.4057:0.1957	.	437;309	E7EPS0;Q5HYK9	.;ZN667_HUMAN	T	437;309;309;91	ENSP00000344699:P437T;ENSP00000439402:P309T;ENSP00000292069:P309T	ENSP00000292069:P309T	P	-	1	0	ZNF667	61645251	0.000000	0.05858	0.001000	0.08648	0.265000	0.26407	0.272000	0.18644	0.235000	0.21160	0.467000	0.42956	CCT		0.333	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		28	84	1	0	1.16021e-09	0.007291	1.63442e-09	28	84				
PEG3	5178	broad.mit.edu	37	19	57328676	57328676	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57328676A>G	ENST00000326441.9	-	10	1497	c.1134T>C	c.(1132-1134)aaT>aaC	p.N378N	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.N252N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.N378N|PEG3_ENST00000598410.1_Silent_p.N254N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	378					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.N378N(2)		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)		CAAGGGTTGAATTAAACCTAA	0.443																																							uc002qnu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1132-1134)AAT>AAC		paternally expressed 3 isoform 1							91.0	94.0	93.0					19																	57328676		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328676A>G	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.1134T>C	19.37:g.57328676A>G						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.N349N|PEG3_uc002qnv.2_Silent_p.N378N|PEG3_uc002qnw.2_Silent_p.N254N|PEG3_uc002qnx.2_Silent_p.N252N|PEG3_uc010etr.2_Silent_p.N378N	p.N378N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1485	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	378					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1134T>C	CCDS12948.1																																																																																				0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			42	143	0	0	0	0.009718	0	42	143				
PEG3	5178	broad.mit.edu	37	19	57333091	57333091	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57333091C>A	ENST00000326441.9	-	7	960	c.597G>T	c.(595-597)gtG>gtT	p.V199V	ZIM2_ENST00000593711.1_Silent_p.V74V|ZIM2_ENST00000601070.1_Silent_p.V74V|ZIM2_ENST00000391708.3_Silent_p.V74V|PEG3_ENST00000593695.1_Silent_p.V73V|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000599935.1_Silent_p.V74V|ZIM2_ENST00000221722.5_Silent_p.V74V|PEG3_ENST00000423103.2_Silent_p.V199V|PEG3_ENST00000598410.1_Silent_p.V74V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	199					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.V199V(2)|p.V74V(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)		TTTTCGCCACCACAGGAAGGG	0.537																																							uc002qnu.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(595-597)GTG>GTT		paternally expressed 3 isoform 1							170.0	152.0	158.0					19																	57333091		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333091C>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.597G>T	19.37:g.57333091C>A						ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Silent_p.V74V|ZIM2_uc002qnq.2_Silent_p.V74V|ZIM2_uc010etp.2_Silent_p.V74V|ZIM2_uc010ygs.1_Silent_p.V74V|PEG3_uc002qnt.2_Silent_p.V200V|PEG3_uc002qnv.2_Silent_p.V199V|PEG3_uc002qnw.2_Silent_p.V74V|PEG3_uc002qnx.2_Silent_p.V73V|PEG3_uc010etr.2_Silent_p.V199V	p.V199V	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	948	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	199					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.597G>T	CCDS12948.1																																																																																				0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			22	265	1	0	1.1804e-14	0.003954	1.94721e-14	22	265				
ZNF460	10794	broad.mit.edu	37	19	57802137	57802137	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57802137C>T	ENST00000360338.3	+	3	550	c.228C>T	c.(226-228)ctC>ctT	p.L76L	ZNF460_ENST00000537645.1_Silent_p.L35L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	76	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)|metal ion binding (GO:0046872)	p.L76L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGTCTCACTCCAGGAACAGC	0.498																																							uc002qog.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)CTC>CTT		zinc finger protein 460							71.0	65.0	67.0					19																	57802137		2203	4300	6503	SO:0001819	synonymous_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802137C>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.228C>T	19.37:g.57802137C>T						ZNF460_uc010ygv.1_Silent_p.L35L	p.L76L	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	550	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	76			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.228C>T	CCDS12949.1																																																																																				0.498	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		15	72	0	0	0	0.006122	0	15	72				
ZNF134	7693	broad.mit.edu	37	19	58132534	58132534	+	Missense_Mutation	SNP	C	C	G	rs34357677	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58132534C>G	ENST00000396161.5	+	3	1357	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	349					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.C349W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCATTGAATGCGGGAAATTCT	0.423																																							uc002qpn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)TGC>TGG		zinc finger protein 134							158.0	158.0	158.0					19																	58132534		2122	4270	6392	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132534C>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1047C>G	19.37:g.58132534C>G	ENSP00000379464:p.Cys349Trp					ZNF134_uc002qpo.2_Missense_Mutation_p.C176W|ZNF211_uc010yhb.1_5'UTR	p.C349W	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1146	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	349			C2H2-type 9.		Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1047C>G	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101265	0.37048	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	D	0.85955	-2.05	4.52	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95089	0.8409	H	0.99391	4.545	0.39715	D	0.971386	D	0.89917	1.0	D	0.91635	0.999	D	0.94043	0.7311	9	0.87932	D	0	.	9.8884	0.41274	0.0:0.1788:0.0:0.8212	.	349	P52741	ZN134_HUMAN	W	416;269;349	ENSP00000379464:C349W	ENSP00000379464:C349W	C	+	3	2	ZNF134	62824346	.	.	0.996000	0.52242	0.506000	0.33950	.	.	0.336000	0.23639	-1.044000	0.02363	TGC		0.423	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		48	207	0	0	0	0.00361	0	48	207				
ZNF135	7694	broad.mit.edu	37	19	58579104	58579104	+	Missense_Mutation	SNP	G	G	T	rs148350290		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58579104G>T	ENST00000313434.5	+	5	1353	c.1252G>T	c.(1252-1254)Gcc>Tcc	p.A418S	ZNF135_ENST00000511556.1_Missense_Mutation_p.A430S|ZNF135_ENST00000401053.4_Missense_Mutation_p.A442S|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Missense_Mutation_p.A376S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.A418S	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	418					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.A418S(1)|p.A442S(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGTGGGAAAGCCTTCAGTCA	0.537																																							uc010yhq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1288-1290)GCC>TCC		zinc finger protein 135 isoform 2							73.0	77.0	76.0					19																	58579104		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579104G>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1252G>T	19.37:g.58579104G>T	ENSP00000321406:p.Ala418Ser					ZNF135_uc002qre.2_Missense_Mutation_p.A418S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.A376S|ZNF135_uc002qrg.2_Missense_Mutation_p.A388S|ZNF135_uc010yhr.1_Missense_Mutation_p.A239S	p.A430S	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1384	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	430					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1288G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.046|7.046	0.563550|0.563550	0.13498|0.13498	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T|.	0.13420|.	2.59;2.59;2.59;2.59;2.59|.	3.1|3.1	2.05|2.05	0.26809|0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.21022|0.21022	0.0506|0.0506	N|N	0.14661|0.14661	0.345|0.345	0.20307|0.20307	N|N	0.999916|0.999916	D;B|.	0.69078|.	0.997;0.437|.	D;B|.	0.63033|.	0.91;0.326|.	T|T	0.21518|0.21518	-1.0243|-1.0243	9|6	0.39692|0.87932	T|D	0.17|0	.|.	2.8734|2.8734	0.05624|0.05624	0.2479:0.0:0.5314:0.2206|0.2479:0.0:0.5314:0.2206	.|.	430;418|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	S|N	442;418;418;430;376|435	ENSP00000441410:A442S;ENSP00000444828:A418S;ENSP00000321406:A418S;ENSP00000422074:A430S;ENSP00000427691:A376S|.	ENSP00000321406:A418S|ENSP00000375580:K435N	A|K	+|+	1|3	0|2	ZNF135|ZNF135	63270916|63270916	0.000000|0.000000	0.05858|0.05858	0.722000|0.722000	0.30670|0.30670	0.001000|0.001000	0.01503|0.01503	-0.188000|-0.188000	0.09642|0.09642	0.638000|0.638000	0.30545|0.30545	-0.259000|-0.259000	0.10710|0.10710	GCC|AAG		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		9	47	1	0	2.17888e-05	0.006214	2.56155e-05	9	47				
ZNF274	10782	broad.mit.edu	37	19	58718367	58718367	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58718367G>T	ENST00000326804.4	+	6	994	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	ZNF274_ENST00000345813.3_Missense_Mutation_p.D147Y|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.D74Y	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	180	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D147Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGGAGCCCTGGACCAGCTCCG	0.622																																							uc002qrq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)GAC>TAC		zinc finger protein 274 isoform c							16.0	19.0	18.0					19																	58718367		2203	4300	6503	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718367G>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.535G>T	19.37:g.58718367G>T	ENSP00000321209:p.Asp179Tyr					ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.D148Y|ZNF274_uc002qrs.1_Missense_Mutation_p.D75Y|ZNF274_uc010eum.1_5'UTR	p.D180Y	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	7	997	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	180			SCAN box.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.538G>T		.	.	.	.	.	.	.	.	.	.	G	11.60	1.688385	0.29962	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.04317	3.65;3.65;3.65	4.46	2.24	0.28232	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.369553	0.19817	N	0.105407	T	0.03783	0.0107	.	.	.	0.24373	N	0.994828	P;P;P	0.47604	0.876;0.876;0.898	B;B;B	0.38264	0.175;0.175;0.269	T	0.40346	-0.9568	9	0.62326	D	0.03	-7.9047	5.6823	0.17782	0.1056:0.0:0.6932:0.2012	.	75;148;180	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	Y	179;147;74	ENSP00000321209:D179Y;ENSP00000321187:D147Y;ENSP00000409872:D74Y	ENSP00000321209:D179Y	D	+	1	0	ZNF274	63410179	0.000000	0.05858	0.675000	0.29917	0.062000	0.15995	0.077000	0.14738	0.538000	0.28769	0.655000	0.94253	GAC		0.622	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		3	12	1	0	0.004672	0.004672	0.00494328	3	12				
MYT1L	23040	broad.mit.edu	37	2	1926489	1926489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:1926489G>T	ENST00000399161.2	-	10	1799	c.1052C>A	c.(1051-1053)cCg>cAg	p.P351Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.P351Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	351					cell differentiation (GO:0030154)|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)|zinc ion binding (GO:0008270)	p.P351Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGCTGCGGATTCCTCTC	0.572																																							uc002qxe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(1051-1053)CCG>CAG		myelin transcription factor 1-like							48.0	53.0	52.0					2																	1926489		2124	4238	6362	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926489G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1052C>A	2.37:g.1926489G>T	ENSP00000382114:p.Pro351Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.P351Q|MYT1L_uc010ewl.1_RNA	p.P351Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1879	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	351					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1052C>A		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011294	0.00422	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.39406	1.08;1.08	5.75	-1.27	0.09347	.	0.625852	0.15885	N	0.239860	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.16512	-1.0400	10	0.10636	T	0.68	-15.6043	17.3406	0.87294	0.0:0.0:0.6207:0.3793	.	351;351	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	351;299;351	ENSP00000382114:P351Q;ENSP00000396103:P351Q	ENSP00000295067:P299Q	P	-	2	0	MYT1L	1905496	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	1.107000	0.31110	-0.459000	0.07013	-0.274000	0.10170	CCG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	54	1	0	2.0095e-06	0.001984	2.47478e-06	6	54				
MYT1L	23040	broad.mit.edu	37	2	1926757	1926757	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:1926757C>G	ENST00000399161.2	-	10	1531	c.784G>C	c.(784-786)Gtg>Ctg	p.V262L	MYT1L_ENST00000428368.2_Missense_Mutation_p.V262L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	262					cell differentiation (GO:0030154)|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)|zinc ion binding (GO:0008270)	p.V262L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGGAGTCCACTGTTTCTCTA	0.428																																							uc002qxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(784-786)GTG>CTG		myelin transcription factor 1-like							188.0	181.0	183.0					2																	1926757		1941	4135	6076	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926757C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.784G>C	2.37:g.1926757C>G	ENSP00000382114:p.Val262Leu					MYT1L_uc002qxd.2_Missense_Mutation_p.V262L|MYT1L_uc010ewl.1_RNA	p.V262L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1611	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	262					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.784G>C		.	.	.	.	.	.	.	.	.	.	C	16.56	3.156927	0.57259	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.55760	0.5;0.5	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.34521	1.04	0.80722	D	1	B;D	0.67145	0.188;0.996	B;D	0.77557	0.057;0.99	T	0.59198	-0.7499	10	0.35671	T	0.21	-45.9005	20.6439	0.99570	0.0:1.0:0.0:0.0	.	262;262	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	262;210;262	ENSP00000382114:V262L;ENSP00000396103:V262L	ENSP00000295067:V210L	V	-	1	0	MYT1L	1905764	1.000000	0.71417	0.972000	0.41901	0.120000	0.20174	5.928000	0.70088	2.884000	0.98904	0.655000	0.94253	GTG		0.428	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		26	237	0	0	0	0.004656	0	26	237				
COLEC11	78989	broad.mit.edu	37	2	3691447	3691447	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:3691447C>T	ENST00000349077.4	+	7	658	c.555C>T	c.(553-555)gcC>gcT	p.A185A	COLEC11_ENST00000402794.1_Silent_p.A135A|COLEC11_ENST00000382062.2_Silent_p.A161A|COLEC11_ENST00000402922.1_Silent_p.A135A|COLEC11_ENST00000236693.7_Silent_p.A182A|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.A199A|COLEC11_ENST00000404205.1_Silent_p.A111A|COLEC11_ENST00000403096.3_Silent_p.A159A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	185	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A182A(1)|p.A199A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACGAGGCTGCCAATGGCCTGA	0.657																																							uc002qya.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(553-555)GCC>GCT		collectin sub-family member 11 isoform a							34.0	37.0	36.0					2																	3691447		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691447C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.555C>T	2.37:g.3691447C>T						COLEC11_uc002qxz.2_Silent_p.A182A|COLEC11_uc002qyb.2_Silent_p.A161A|COLEC11_uc002qyc.2_Silent_p.A161A|COLEC11_uc010ewo.2_Silent_p.A137A|COLEC11_uc010ewp.2_Silent_p.A159A|COLEC11_uc010ewq.2_Silent_p.A135A|COLEC11_uc010ewr.2_Silent_p.A135A|COLEC11_uc010ews.2_Silent_p.A111A	p.A185A	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	703	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		185			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.555C>T	CCDS1649.1																																																																																				0.657	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		5	31	0	0	0	0.001984	0	5	31				
ADAM17	6868	broad.mit.edu	37	2	9676905	9676905	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:9676905T>G	ENST00000310823.3	-	3	465	c.283A>C	c.(283-285)Aag>Cag	p.K95Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K95Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	95					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.K95Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACCACGACCTTGAAATTTTGT	0.373																																							uc002qzu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(283-285)AAG>CAG		a disintegrin and metalloprotease domain 17							158.0	133.0	141.0					2																	9676905		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676905T>G	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.283A>C	2.37:g.9676905T>G	ENSP00000309968:p.Lys95Gln					ADAM17_uc010ewy.2_Missense_Mutation_p.K95Q|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.K95Q|ADAM17_uc002qzv.2_Missense_Mutation_p.K95Q	p.K95Q	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	3	466	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		95					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.283A>C	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317173	0.40996	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06142	3.34;3.34	5.42	4.24	0.50183	Peptidase M12B, propeptide (1);	0.245181	0.47093	D	0.000247	T	0.04770	0.0129	L	0.29908	0.895	0.26825	N	0.968713	B;B;B;B	0.25048	0.117;0.003;0.117;0.003	B;B;B;B	0.23574	0.047;0.013;0.029;0.013	T	0.40098	-0.9581	10	0.21014	T	0.42	.	7.1938	0.25841	0.0:0.0788:0.3686:0.5526	.	95;95;95;95	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	Q	95	ENSP00000309968:K95Q;ENSP00000418728:K95Q	ENSP00000309968:K95Q	K	-	1	0	ADAM17	9594356	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.110000	0.41873	0.851000	0.35264	0.477000	0.44152	AAG		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			4	50	0	0	0	0.001984	0	4	50				
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Missense_Mutation	SNP	C	C	A	rs574141383		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:10912016C>A	ENST00000272238.4	+	7	631	c.522C>A	c.(520-522)ttC>ttA	p.F174L	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.F174L|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532																																					NSCLC(188;1042 2136 10807 16813 47705)	NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(520-522)TTC>TTA		vacuolar H+ ATPase C2 isoform a							192.0	177.0	182.0					2																	10912016		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912016C>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.522C>A	2.37:g.10912016C>A	ENSP00000272238:p.Phe174Leu					ATP6V1C2_uc002rat.2_Missense_Mutation_p.F174L	p.F174L	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	7	631	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		174					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.522C>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291052	0.59976	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.50813	0.73;0.73	5.21	-8.43	0.00953	.	0.053454	0.85682	D	0.000000	T	0.43831	0.1265	L	0.46947	1.48	0.53688	D	0.999977	P;P	0.49961	0.474;0.93	B;P	0.51516	0.423;0.672	T	0.64567	-0.6377	10	0.48119	T	0.1	-1.1181	14.9281	0.70896	0.0:0.4749:0.0:0.5251	.	174;174	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	L	174	ENSP00000272238:F174L;ENSP00000371077:F174L	ENSP00000272238:F174L	F	+	3	2	ATP6V1C2	10829467	0.569000	0.26643	0.815000	0.32552	0.825000	0.46686	-0.280000	0.08468	-1.667000	0.01473	-0.997000	0.02515	TTC		0.532	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		28	270	1	0	1.99505e-19	0.002445	3.56933e-19	28	270				
PDIA6	10130	broad.mit.edu	37	2	10929942	10929942	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:10929942C>T	ENST00000272227.3	-	8	920	c.773G>A	c.(772-774)aGa>aAa	p.R258K	PDIA6_ENST00000381611.4_Missense_Mutation_p.R263K|PDIA6_ENST00000540494.1_Missense_Mutation_p.R255K|PDIA6_ENST00000404824.2_Missense_Mutation_p.R306K|PDIA6_ENST00000404371.2_Missense_Mutation_p.R310K	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	258	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.R258K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GATGTCGGATCTTGTCCGCCC	0.453																																					GBM(73;509 1219 34219 41343 41551)	GBM(73;509 1219 34219 41343 41551)	uc002rau.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)AGA>AAA		protein disulfide isomerase A6 precursor							84.0	83.0	83.0					2																	10929942		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10929942C>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.773G>A	2.37:g.10929942C>T	ENSP00000272227:p.Arg258Lys					PDIA6_uc010yjg.1_Missense_Mutation_p.R255K|PDIA6_uc002rav.2_Missense_Mutation_p.R310K|PDIA6_uc010yjh.1_Missense_Mutation_p.R263K|PDIA6_uc002raw.2_Missense_Mutation_p.R306K	p.R258K	NM_005742	NP_005733	Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	8	911	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		258			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.773G>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149150	0.37923	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	5.63	3.78	0.43462	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.139954	0.64402	N	0.000008	T	0.01156	0.0038	N	0.00864	-1.135	0.41451	D	0.987984	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.002;0.002	T	0.56105	-0.8034	10	0.42905	T	0.14	.	8.2746	0.31864	0.0:0.6907:0.0:0.3093	.	255;306;310;258	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	K	258;310;306;255;263	ENSP00000272227:R258K;ENSP00000385385:R310K;ENSP00000384459:R306K;ENSP00000438778:R255K;ENSP00000371024:R263K	ENSP00000272227:R258K	R	-	2	0	PDIA6	10847393	0.905000	0.30787	0.043000	0.18650	0.985000	0.73830	1.623000	0.37008	0.808000	0.34231	0.655000	0.94253	AGA		0.453	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		13	99	0	0	0	0.001855	0	13	99				
KCNF1	3754	broad.mit.edu	37	2	11053201	11053201	+	Missense_Mutation	SNP	G	G	T	rs147777200		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:11053201G>T	ENST00000295082.1	+	1	1139	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	217					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V217L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCAACCGCGTGGAGCACCC	0.642																																							uc002rax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GTG>TTG		potassium voltage-gated channel, subfamily F,							57.0	59.0	58.0					2																	11053201		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053201G>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.649G>T	2.37:g.11053201G>T	ENSP00000295082:p.Val217Leu						p.V217L	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1139	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		217					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.649G>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	8.632	0.893923	0.17613	.	.	ENSG00000162975	ENST00000295082	D	0.97976	-4.64	5.21	4.32	0.51571	.	0.203341	0.42682	D	0.000680	D	0.94404	0.8200	L	0.42245	1.32	0.41865	D	0.990245	B	0.16396	0.017	B	0.16722	0.016	D	0.90515	0.4484	10	0.17832	T	0.49	.	9.0462	0.36347	0.1187:0.1342:0.7471:0.0	.	217	Q9H3M0	KCNF1_HUMAN	L	217	ENSP00000295082:V217L	ENSP00000295082:V217L	V	+	1	0	KCNF1	10970652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.011000	0.40922	1.280000	0.44463	0.655000	0.94253	GTG		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		8	63	1	0	5.18039e-06	0.00308	6.26229e-06	8	63				
MSGN1	343930	broad.mit.edu	37	2	17998056	17998056	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:17998056G>T	ENST00000281047.3	+	1	294	c.271G>T	c.(271-273)Gta>Tta	p.V91L		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	91					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.V91L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGTGGCCTGGTAGAGGTGGA	0.637																																					Melanoma(127;325 1712 14802 40657 49130)	Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)GTA>TTA		mesogenin 1							36.0	43.0	41.0					2																	17998056		1997	4162	6159	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998056G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.271G>T	2.37:g.17998056G>T	ENSP00000281047:p.Val91Leu						p.V91L	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	271	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		91						Missense_Mutation	SNP	ENST00000281047.3	37	c.271G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793463	0.31685	.	.	ENSG00000151379	ENST00000281047	T	0.17213	2.29	5.47	4.6	0.57074	.	0.316812	0.22708	N	0.056611	T	0.13072	0.0317	L	0.44542	1.39	0.23314	N	0.997927	B	0.15930	0.015	B	0.14023	0.01	T	0.30851	-0.9964	10	0.11485	T	0.65	-25.2819	8.8395	0.35133	0.172:0.0:0.828:0.0	.	91	A6NI15	MSGN1_HUMAN	L	91	ENSP00000281047:V91L	ENSP00000281047:V91L	V	+	1	0	MSGN1	17861537	0.439000	0.25610	0.437000	0.26809	0.864000	0.49448	1.711000	0.37930	1.450000	0.47717	0.655000	0.94253	GTA		0.637	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		17	89	1	0	1.02788e-11	0.00499	1.56086e-11	17	89				
NT5C1B	93034	broad.mit.edu	37	2	18745191	18745191	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:18745191G>A	ENST00000359846.2	-	10	1781	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A	NT5C1B-RDH14_ENST00000532967.1_Silent_p.A568A|NT5C1B_ENST00000600945.1_Silent_p.A568A|NT5C1B_ENST00000304081.4_Silent_p.A508A	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	568					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)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.A568A(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GACTTTTGGGGGCTCCAGCAA	0.542																																							uc002rcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1702-1704)GCC>GCT		5' nucleotidase, cytosolic IB isoform 1							80.0	82.0	81.0					2																	18745191		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18745191G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1704C>T	2.37:g.18745191G>A						NT5C1B_uc002rcy.2_Silent_p.A568A|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Silent_p.A508A|NT5C1B_uc002rda.2_Silent_p.A508A|NT5C1B_uc010yjv.1_Silent_p.A585A|NT5C1B_uc010yjw.1_Silent_p.A551A|NT5C1B_uc010exs.2_Silent_p.A570A	p.A568A	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			10	1808	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	568					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.1704C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263176	0.23051	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.02	-3.66	0.04489	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50849	-0.8779	4	.	.	.	-22.9814	9.4532	0.38739	0.598:0.0:0.2712:0.1309	.	.	.	.	S	223	.	.	P	-	1	0	NT5C1B	18608672	0.315000	0.24571	0.898000	0.35279	0.994000	0.84299	-0.182000	0.09726	-0.879000	0.04002	-0.312000	0.09012	CCC		0.542	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			18	96	0	0	0	0.001882	0	18	96				
APOB	338	broad.mit.edu	37	2	21231857	21231857	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21231857G>A	ENST00000233242.1	-	26	8010	c.7883C>T	c.(7882-7884)tCa>tTa	p.S2628L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2628					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.S2628L(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)					TATCTGAACTGATGGAATCCT	0.408																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7882-7884)TCA>TTA		apolipoprotein B precursor	Atorvastatin(DB01076)						76.0	84.0	81.0					2																	21231857		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231857G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7883C>T	2.37:g.21231857G>A	ENSP00000233242:p.Ser2628Leu						p.S2628L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8011	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2628					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7883C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630594	0.46944	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01119	5.31	5.16	5.16	0.70880	.	0.000000	0.46758	D	0.000278	T	0.06371	0.0164	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.10019	-1.0648	10	0.87932	D	0	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	2628	P04114	APOB_HUMAN	L	2628	ENSP00000233242:S2628L	ENSP00000233242:S2628L	S	-	2	0	APOB	21085362	1.000000	0.71417	0.997000	0.53966	0.559000	0.35586	4.481000	0.60250	2.404000	0.81709	0.561000	0.74099	TCA		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	157	0	0	0	0.004007	0	16	157				
APOB	338	broad.mit.edu	37	2	21234088	21234088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21234088G>T	ENST00000233242.1	-	26	5779	c.5652C>A	c.(5650-5652)aaC>aaA	p.N1884K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1884					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.N1884K(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)					CTGAATTATAGTTTGTGCTCA	0.473																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5650-5652)AAC>AAA		apolipoprotein B precursor	Atorvastatin(DB01076)						109.0	104.0	106.0					2																	21234088		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234088G>T	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.5652C>A	2.37:g.21234088G>T	ENSP00000233242:p.Asn1884Lys						p.N1884K	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5780	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1884					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5652C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666394	0.29604	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00695	5.83	5.67	3.79	0.43588	.	0.187844	0.36444	N	0.002587	T	0.01092	0.0036	M	0.61703	1.905	0.22779	N	0.998746	P	0.43094	0.799	B	0.37508	0.252	T	0.51164	-0.8740	10	0.32370	T	0.25	.	10.1785	0.42952	0.231:0.0:0.769:0.0	.	1884	P04114	APOB_HUMAN	K	1884	ENSP00000233242:N1884K	ENSP00000233242:N1884K	N	-	3	2	APOB	21087593	0.028000	0.19301	0.997000	0.53966	0.975000	0.68041	0.595000	0.24029	0.676000	0.31285	0.555000	0.69702	AAC		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			37	139	1	0	3.33393e-15	0.004878	5.56504e-15	37	139				
APOB	338	broad.mit.edu	37	2	21235298	21235298	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21235298A>T	ENST00000233242.1	-	26	4569	c.4442T>A	c.(4441-4443)gTc>gAc	p.V1481D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1481					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.V1481D(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)					GACTTCTTTGACAAACAAATG	0.443																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4441-4443)GTC>GAC		apolipoprotein B precursor	Atorvastatin(DB01076)						131.0	127.0	128.0					2																	21235298		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235298A>T	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.4442T>A	2.37:g.21235298A>T	ENSP00000233242:p.Val1481Asp						p.V1481D	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4570	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1481					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4442T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705397	0.48412	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.88	5.88	0.94601	.	0.471231	0.19710	N	0.107835	T	0.00936	0.0031	L	0.44542	1.39	0.22468	N	0.999076	B	0.21381	0.055	B	0.15052	0.012	T	0.48456	-0.9034	10	0.72032	D	0.01	.	5.593	0.17311	0.7456:0.0:0.1159:0.1385	.	1481	P04114	APOB_HUMAN	D	1481	ENSP00000233242:V1481D	ENSP00000233242:V1481D	V	-	2	0	APOB	21088803	0.059000	0.20769	0.801000	0.32222	0.643000	0.38383	2.535000	0.45685	2.246000	0.74042	0.533000	0.62120	GTC		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	105	0	0	0	0.00632	0	25	105				
APOB	338	broad.mit.edu	37	2	21238276	21238276	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21238276G>T	ENST00000233242.1	-	22	3601	c.3474C>A	c.(3472-3474)ggC>ggA	p.G1158G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1158					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.G1158G(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)					AAACTGTGGAGCCATAAGCTG	0.517																																							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.(3472-3474)GGC>GGA		apolipoprotein B precursor	Atorvastatin(DB01076)						138.0	120.0	126.0					2																	21238276		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.chr2:21238276G>T	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.3474C>A	2.37:g.21238276G>T							p.G1158G	NM_000384	NP_000375	P04114	APOB_HUMAN			22	3602	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1158					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3474C>A	CCDS1703.1																																																																																				0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	49	1	0	3.41278e-10	0.00499	4.93125e-10	17	49				
FAM228A	653140	broad.mit.edu	37	2	24406434	24406434	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:24406434C>T	ENST00000295150.3	+	5	407	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	107								p.F107F(1)									CGCCCTACTTCACTTTCACTT	0.413																																							uc002rfc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)TTC>TTT		hypothetical protein LOC653140							62.0	58.0	59.0					2																	24406434		1872	4112	5984	SO:0001819	synonymous_variant	653140							g.chr2:24406434C>T		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.321C>T	2.37:g.24406434C>T						C2orf84_uc010eyc.2_RNA	p.F107F	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN			5	407	+			107						Silent	SNP	ENST00000295150.3	37	c.321C>T	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	C	2.267	-0.367923	0.05069	.	.	ENSG00000186453	ENST00000432434	.	.	.	3.81	0.983	0.19767	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-0.0972	2.5994	0.04862	0.1917:0.5178:0.1857:0.1048	.	.	.	.	L	145	.	.	S	+	2	0	C2orf84	24259938	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.037000	0.13840	0.199000	0.20427	-0.319000	0.08680	TCA		0.413	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		7	44	0	0	0	0.004482	0	7	44				
HADHB	3032	broad.mit.edu	37	2	26502894	26502894	+	Missense_Mutation	SNP	C	C	T	rs374979465		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:26502894C>T	ENST00000317799.5	+	10	948	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.R159C|HADHB_ENST00000545822.1_Missense_Mutation_p.R260C|HADHB_ENST00000537713.1_Missense_Mutation_p.R267C	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	282					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.R282C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGGCATCCGTCCTTCCTC	0.383																																							uc002rgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(844-846)CGT>TGT		mitochondrial trifunctional protein, beta		C	CYS/ARG	0,4406		0,0,2203	120.0	105.0	110.0		844	5.4	1.0	2		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	HADHB	NM_000183.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	282/475	26502894	1,13005	2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502894C>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.844C>T	2.37:g.26502894C>T	ENSP00000325136:p.Arg282Cys					HADHB_uc010ykv.1_Missense_Mutation_p.R260C|HADHB_uc010ykw.1_Missense_Mutation_p.R267C|HADHB_uc002rha.2_Missense_Mutation_p.R159C|HADHB_uc010ykx.1_Missense_Mutation_p.R208C	p.R282C	NM_000183	NP_000174	P55084	ECHB_HUMAN			10	1095	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		282					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.844C>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902465	0.72754	0.0	1.16E-4	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.95588	-3.13;-3.75;-3.13;-3.13	5.43	5.43	0.79202	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.98833	4.345	0.80722	D	1	P;P;D;P	0.89917	0.914;0.93;1.0;0.93	B;B;D;B	0.87578	0.3;0.426;0.998;0.426	D	0.99399	1.0927	10	0.87932	D	0	-2.7639	18.1819	0.89781	0.0:1.0:0.0:0.0	.	267;260;159;282	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	C	282;159;267;260	ENSP00000325136:R282C;ENSP00000385411:R159C;ENSP00000444295:R267C;ENSP00000442665:R260C	ENSP00000325136:R282C	R	+	1	0	HADHB	26356398	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.636000	0.67848	2.699000	0.92147	0.650000	0.86243	CGT		0.383	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		19	128	0	0	0	0.00278	0	19	128				
DRC1	92749	broad.mit.edu	37	2	26644177	26644177	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:26644177T>A	ENST00000288710.2	+	3	339	c.265T>A	c.(265-267)Tgt>Agt	p.C89S		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	89					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.C89S(1)									ACTTCTGCTCTGTGGCACCGA	0.363																																							uc002rhg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)TGT>AGT		hypothetical protein LOC92749							75.0	73.0	73.0					2																	26644177		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26644177T>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.265T>A	2.37:g.26644177T>A	ENSP00000288710:p.Cys89Ser					C2orf39_uc010eym.1_RNA	p.C89S	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			3	339	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		89					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.265T>A	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	T	8.948	0.967470	0.18659	.	.	ENSG00000157856	ENST00000288710	T	0.13089	2.62	5.08	5.08	0.68730	.	0.577053	0.17599	N	0.168467	T	0.09024	0.0223	L	0.27053	0.805	0.24601	N	0.993778	B	0.10296	0.003	B	0.12156	0.007	T	0.33624	-0.9861	10	0.09590	T	0.72	-0.1761	9.9522	0.41645	0.0:0.0:0.2889:0.7111	.	89	Q96MC2	CC164_HUMAN	S	89	ENSP00000288710:C89S	ENSP00000288710:C89S	C	+	1	0	CCDC164	26497681	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.191000	0.50981	2.056000	0.61249	0.392000	0.25879	TGT		0.363	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		9	117	0	0	0	0.001855	0	9	117				
SLC35F6	54978	broad.mit.edu	37	2	27001138	27001138	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27001138G>A	ENST00000344420.5	+	6	937	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC35F6_ENST00000416475.2_Missense_Mutation_p.R209H|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	292					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.R292H(1)									GCCACCACCCGCATGGTGTTG	0.597																																							uc002rhp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(874-876)CGC>CAC		ANT2-binding protein precursor							144.0	116.0	125.0					2																	27001138		2203	4300	6503	SO:0001583	missense	54978					integral to membrane|lysosomal membrane		g.chr2:27001138G>A	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.875G>A	2.37:g.27001138G>A	ENSP00000345528:p.Arg292His					C2orf18_uc002rhq.1_Missense_Mutation_p.R209H|C2orf18_uc010eyo.1_Missense_Mutation_p.R239H|C2orf18_uc010ylc.1_Missense_Mutation_p.R145H	p.R292H	NM_017877	NP_060347	Q8N357	CB018_HUMAN			6	951	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		292					D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.875G>A	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317197	0.95682	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	D;D	0.88124	-2.34;-2.34	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93014	0.6434	10	0.46703	T	0.11	.	17.867	0.88797	0.0:0.0:1.0:0.0	.	145;209;292	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	H	292;209	ENSP00000345528:R292H;ENSP00000413413:R209H	ENSP00000345528:R292H	R	+	2	0	C2orf18	26854642	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.896000	0.92521	2.576000	0.86940	0.561000	0.74099	CGC		0.597	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		36	148	0	0	0	0.004878	0	36	148				
CENPA	1058	broad.mit.edu	37	2	27016114	27016114	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27016114G>T	ENST00000335756.4	+	4	590	c.390G>T	c.(388-390)cgG>cgT	p.R130R	CENPA_ENST00000233505.8_Silent_p.R104R|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R130R(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGGCCCGGAGGATCCGGG	0.552																																					Pancreas(28;769 878 30250 30578 41330)	Pancreas(28;769 878 30250 30578 41330)	uc002rhr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)CGG>CGT		centromere protein A isoform a							135.0	145.0	142.0					2																	27016114		2203	4300	6503	SO:0001819	synonymous_variant	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27016114G>T	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.390G>T	2.37:g.27016114G>T						CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.R104R	p.R130R	NM_001809	NP_001800	P49450	CENPA_HUMAN			4	573	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			H3-like.		D6W544|Q53T74|Q9BVW2	Silent	SNP	ENST00000335756.4	37	c.390G>T	CCDS1729.1																																																																																				0.552	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		22	361	1	0	7.38237e-10	0.00632	1.05127e-09	22	361				
TMEM214	54867	broad.mit.edu	37	2	27263287	27263287	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27263287G>A	ENST00000238788.9	+	16	1928	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	TMEM214_ENST00000404032.3_Silent_p.Q577Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	622					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q622Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTTCCACCAGAATGTGCTGC	0.602																																							uc002ria.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1864-1866)CAG>CAA		transmembrane protein 214 isoform 1							74.0	77.0	76.0					2																	27263287		2019	4177	6196	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27263287G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1866G>A	2.37:g.27263287G>A						TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.Q577Q	p.Q622Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			16	1976	+			622			Helical; (Potential).		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.1866G>A	CCDS42664.1																																																																																				0.602	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		7	97	0	0	0	0.00308	0	7	97				
KHK	3795	broad.mit.edu	37	2	27322123	27322123	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27322123G>C	ENST00000260599.6	+	6	1137	c.624G>C	c.(622-624)ttG>ttC	p.L208F	KHK_ENST00000260598.5_Missense_Mutation_p.L208F|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	208					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.L208F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGCCTTGAGGGGCTTGT	0.572																																							uc002ril.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(622-624)TTG>TTC		ketohexokinase isoform a							106.0	107.0	106.0					2																	27322123		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27322123G>C		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.624G>C	2.37:g.27322123G>C	ENSP00000260599:p.Leu208Phe					KHK_uc002rim.2_Missense_Mutation_p.L208F|KHK_uc002rin.2_Missense_Mutation_p.L209F|KHK_uc002rio.2_Missense_Mutation_p.L124F|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR	p.L208F	NM_000221	NP_000212	P50053	KHK_HUMAN			6	1141	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		208					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.624G>C	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768703	0.49680	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.80566	-1.39;-1.39;-0.19	5.34	-0.346	0.12620	Carbohydrate/purine kinase (1);	0.150473	0.46442	D	0.000292	D	0.86218	0.5880	M	0.83953	2.67	0.80722	D	1	P;D;P;D	0.76494	0.881;0.999;0.948;0.999	P;D;P;D	0.71184	0.563;0.972;0.527;0.972	T	0.83208	-0.0075	10	0.66056	D	0.02	.	5.6903	0.17825	0.2563:0.2952:0.4485:0.0	.	208;208;208;208	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	F	208;208;253	ENSP00000260599:L208F;ENSP00000260598:L208F;ENSP00000404741:L253F	ENSP00000260598:L208F	L	+	3	2	KHK	27175627	0.980000	0.34600	0.984000	0.44739	0.270000	0.26580	1.349000	0.33998	0.226000	0.20979	0.462000	0.41574	TTG		0.572	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			27	134	0	0	0	0.008361	0	27	134				
PRR30	339779	broad.mit.edu	37	2	27360383	27360383	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27360383G>T	ENST00000335524.3	-	3	1340	c.815C>A	c.(814-816)cCc>cAc	p.P272H	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_5'Flank|PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		272								p.P272H(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCAGCCGGGGTCCAGTCCT	0.677																																							uc002rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(814-816)CCC>CAC		hypothetical protein LOC339779							20.0	22.0	21.0					2																	27360383		2068	4070	6138	SO:0001583	missense	339779							g.chr2:27360383G>T																												ENST00000335524.3:c.815C>A	2.37:g.27360383G>T	ENSP00000335017:p.Pro272His					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.P272H	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1395	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		272					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.815C>A	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941211	0.53079	.	.	ENSG00000186143	ENST00000335524	T	0.38401	1.14	4.67	3.79	0.43588	.	0.211483	0.24039	N	0.042118	T	0.41119	0.1145	L	0.32530	0.975	0.28801	N	0.898756	D	0.55605	0.972	P	0.58970	0.849	T	0.25606	-1.0127	10	0.87932	D	0	-13.7259	8.8312	0.35085	0.1021:0.0:0.8979:0.0	.	272	Q53SZ7	CB053_HUMAN	H	272	ENSP00000335017:P272H	ENSP00000335017:P272H	P	-	2	0	C2orf53	27213887	0.985000	0.35326	0.973000	0.42090	0.723000	0.41478	2.954000	0.49113	1.186000	0.42985	-0.215000	0.12644	CCC		0.677	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			10	71	1	0	0.00010058	0.001368	0.000114483	10	71				
CAD	790	broad.mit.edu	37	2	27462299	27462299	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27462299G>A	ENST00000403525.1	+	32	5309	c.5165G>A	c.(5164-5166)cGt>cAt	p.R1722H	CAD_ENST00000264705.4_Missense_Mutation_p.R1785H			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.R1785H(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)					ACCGTCCGCCGTGTGGTCCTG	0.572																																							uc002rji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(5353-5355)CGT>CAT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						83.0	71.0	75.0					2																	27462299		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.chr2:27462299G>A	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.5165G>A	2.37:g.27462299G>A	ENSP00000384510:p.Arg1722His					CAD_uc010eyw.2_Missense_Mutation_p.R1722H	p.R1785H	NM_004341	NP_004332	P27708	PYR1_HUMAN			33	5516	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1785			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5354G>A		.	.	.	.	.	.	.	.	.	.	G	24.2	4.506710	0.85282	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98362	-4.89;-4.83	4.88	4.88	0.63580	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.99871	1.1096	10	0.87932	D	0	-0.7998	16.9731	0.86305	0.0:0.0:1.0:0.0	.	1722;1785	F8VPD4;P27708	.;PYR1_HUMAN	H	1785;1722	ENSP00000264705:R1785H;ENSP00000384510:R1722H	ENSP00000264705:R1785H	R	+	2	0	CAD	27315803	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.460000	0.80816	2.407000	0.81776	0.561000	0.74099	CGT		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			5	56	0	0	0	0.001984	0	5	56				
PLB1	151056	broad.mit.edu	37	2	28761238	28761238	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:28761238T>A	ENST00000327757.5	+	10	652	c.608T>A	c.(607-609)cTg>cAg	p.L203Q	PLB1_ENST00000422425.2_Missense_Mutation_p.L214Q	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	203	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L214Q(1)|p.L203Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGGACTACCTGCAGCAGGAG	0.652																																							uc002rmb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(607-609)CTG>CAG		phospholipase B1 precursor							40.0	39.0	39.0					2																	28761238		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28761238T>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.608T>A	2.37:g.28761238T>A	ENSP00000330442:p.Leu203Gln					PLB1_uc010ezj.1_Missense_Mutation_p.L214Q	p.L203Q	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			10	608	+	Acute lymphoblastic leukemia(172;0.155)		203			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.608T>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.84|19.84	3.902501|3.902501	0.72754|0.72754	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.38240	.|1.15;2.08;1.91	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.106917	.|0.39544	.|N	.|0.001325	T|T	0.65852|0.65852	0.2731|0.2731	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.99	.|D;P	.|0.97110	.|1.0;0.904	T|T	0.73742|0.73742	-0.3887|-0.3887	5|10	.|0.87932	.|D	.|0	-14.2035|-14.2035	12.924|12.924	0.58249|0.58249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|214;203	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	S|Q	213|158;203;214	.|ENSP00000407076:L158Q;ENSP00000330442:L203Q;ENSP00000416440:L214Q	.|ENSP00000330442:L203Q	C|L	+|+	1|2	0|0	PLB1|PLB1	28614742|28614742	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	3.718000|3.718000	0.54919|0.54919	2.006000|2.006000	0.58801|0.58801	0.402000|0.402000	0.26972|0.26972	TGC|CTG		0.652	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			5	43	0	0	0	0.000602	0	5	43				
C2orf71	388939	broad.mit.edu	37	2	29293581	29293581	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29293581C>T	ENST00000331664.5	-	1	3546	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1183					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.A1183T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTTGAGGGCACACAGAGCT	0.642																																							uc002rmt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3547-3549)GCC>ACC		hypothetical protein LOC388939							42.0	49.0	47.0					2																	29293581		2114	4226	6340	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293581C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3547G>A	2.37:g.29293581C>T	ENSP00000332809:p.Ala1183Thr						p.A1183T	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	3547	-			1183						Missense_Mutation	SNP	ENST00000331664.5	37	c.3547G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441757	0.63067	.	.	ENSG00000179270	ENST00000331664	T	0.28255	1.62	5.52	2.73	0.32206	.	0.143258	0.45361	N	0.000361	T	0.47637	0.1456	M	0.65498	2.005	0.30963	N	0.723384	D	0.76494	0.999	D	0.75484	0.986	T	0.50180	-0.8858	10	0.45353	T	0.12	-16.9705	7.9184	0.29831	0.1316:0.7317:0.0:0.1367	.	1183	A6NGG8	CB071_HUMAN	T	1183	ENSP00000332809:A1183T	ENSP00000332809:A1183T	A	-	1	0	C2orf71	29147085	0.629000	0.27146	0.994000	0.49952	0.437000	0.31866	0.527000	0.22987	0.287000	0.22375	-0.136000	0.14681	GCC		0.642	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		15	64	0	0	0	0.003163	0	15	64				
ALK	238	broad.mit.edu	37	2	29416585	29416585	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29416585G>T	ENST00000389048.3	-	29	5274	c.4368C>A	c.(4366-4368)ccC>ccA	p.P1456P	ALK_ENST00000431873.1_Silent_p.P286P	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1456					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1456P(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGCAGCTGTGGGTTTCTTTG	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(4366-4368)CCC>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						82.0	86.0	85.0					2																	29416585		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29416585G>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4368C>A	2.37:g.29416585G>T						ALK_uc010ymo.1_Silent_p.P388P	p.P1456P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			29	5275	-	Acute lymphoblastic leukemia(172;0.155)		1456			Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.4368C>A	CCDS33172.1																																																																																				0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		26	180	1	0	2.46105e-21	0.002096	4.47629e-21	26	180				
ALK	238	broad.mit.edu	37	2	29754890	29754890	+	Missense_Mutation	SNP	C	C	A	rs370848188		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29754890C>A	ENST00000389048.3	-	4	1951	c.1045G>T	c.(1045-1047)Gtc>Ttc	p.V349F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	349	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V349F(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCACCGAGACGGCCAGTGTG	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1045-1047)GTC>TTC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						124.0	110.0	115.0					2																	29754890		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29754890C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1045G>T	2.37:g.29754890C>A	ENSP00000373700:p.Val349Phe						p.V349F	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			4	1952	-	Acute lymphoblastic leukemia(172;0.155)		349			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1045G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073015	0.55646	.	.	ENSG00000171094	ENST00000389048	T	0.00625	6.14	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.267510	0.19547	U	0.111674	T	0.01489	0.0048	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84901	0.0842	9	.	.	.	.	16.1635	0.81734	0.0:1.0:0.0:0.0	.	349	Q9UM73	ALK_HUMAN	F	349	ENSP00000373700:V349F	.	V	-	1	0	ALK	29608394	0.999000	0.42202	1.000000	0.80357	0.006000	0.05464	4.406000	0.59748	2.894000	0.99253	0.655000	0.94253	GTC		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	84	1	0	2.7689e-08	0.001984	3.71198e-08	6	84				
CAPN13	92291	broad.mit.edu	37	2	30975918	30975918	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:30975918C>A	ENST00000295055.8	-	10	1264		c.e10+1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTCATGATTACCTGCAGTGTT	0.512																																							uc002rnn.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e10+1		calpain 13							294.0	272.0	279.0					2																	30975918		1978	4162	6140	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30975918C>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1087+1G>T	2.37:g.30975918C>A						CAPN13_uc002rnp.1_Splice_Site_p.G363_splice	p.G363_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			10	1263	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37	c.1087_splice	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009425	0.35415	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	4.99	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8174	0.40860	0.0:0.9011:0.0:0.0989	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30829422	1.000000	0.71417	0.984000	0.44739	0.056000	0.15407	3.654000	0.54453	2.320000	0.78422	0.561000	0.74099	.		0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	40	358	1	0	3.05275e-18	0.003214	5.37852e-18	40	358				
GALNT14	79623	broad.mit.edu	37	2	31168704	31168704	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:31168704A>T	ENST00000349752.5	-	7	1326	c.687T>A	c.(685-687)gaT>gaA	p.D229E	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.D234E|GALNT14_ENST00000406653.1_Missense_Mutation_p.D209E|GALNT14_ENST00000420311.2_Missense_Mutation_p.D194E|GALNT14_ENST00000356174.3_Missense_Mutation_p.D196E	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	229					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D229E(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTAATGATATCGATCACAG	0.547																																							uc002rnr.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(685-687)GAT>GAA		N-acetylgalactosaminyltransferase 14							105.0	83.0	91.0					2																	31168704		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31168704A>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.687T>A	2.37:g.31168704A>T	ENSP00000288988:p.Asp229Glu					GALNT14_uc002rnq.2_Missense_Mutation_p.D209E|GALNT14_uc002rns.2_Missense_Mutation_p.D234E|GALNT14_uc010ymr.1_Missense_Mutation_p.D194E|GALNT14_uc010ezo.1_Missense_Mutation_p.D196E|GALNT14_uc010ezp.1_Intron	p.D229E	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			7	1306	-	Acute lymphoblastic leukemia(172;0.155)		229			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.687T>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473481	0.84640	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	4.85	-7.31	0.01441	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.89840	3.065	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.996;0.993;0.999;0.996	T	0.82866	-0.0245	10	0.62326	D	0.03	.	20.3532	0.98816	0.2084:0.0:0.7916:0.0	.	194;196;234;229;209	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	E	229;234;209;196;194;196	ENSP00000288988:D229E;ENSP00000314500:D234E;ENSP00000385435:D209E;ENSP00000348497:D196E;ENSP00000415514:D194E;ENSP00000406399:D196E	ENSP00000314500:D234E	D	-	3	2	GALNT14	31022208	0.845000	0.29573	0.520000	0.27837	0.860000	0.49131	-0.080000	0.11339	-1.421000	0.02007	-0.475000	0.04921	GAT		0.547	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		8	81	0	0	0	0.004482	0	8	81				
GALNT14	79623	broad.mit.edu	37	2	31168710	31168710	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:31168710C>A	ENST00000349752.5	-	7	1320	c.681G>T	c.(679-681)gtG>gtT	p.V227V	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.V232V|GALNT14_ENST00000406653.1_Silent_p.V207V|GALNT14_ENST00000420311.2_Silent_p.V192V|GALNT14_ENST00000356174.3_Silent_p.V194V	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	227					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V227V(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGATATCGATCACAGGGCACA	0.562																																							uc002rnr.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(679-681)GTG>GTT		N-acetylgalactosaminyltransferase 14							102.0	81.0	88.0					2																	31168710		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31168710C>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.681G>T	2.37:g.31168710C>A						GALNT14_uc002rnq.2_Silent_p.V207V|GALNT14_uc002rns.2_Silent_p.V232V|GALNT14_uc010ymr.1_Silent_p.V192V|GALNT14_uc010ezo.1_Silent_p.V194V|GALNT14_uc010ezp.1_Intron	p.V227V	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			7	1300	-	Acute lymphoblastic leukemia(172;0.155)		227			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.681G>T	CCDS1773.2																																																																																				0.562	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		19	66	1	0	7.07596e-05	0.006122	8.11982e-05	19	66				
BIRC6	57448	broad.mit.edu	37	2	32640813	32640813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:32640813G>T	ENST00000421745.2	+	10	2588	c.2454G>T	c.(2452-2454)agG>agT	p.R818S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	818					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.R790S(1)|p.R818S(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)					CTGAGCAGAGGAATGTTAGTG	0.353																																					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.(2452-2454)AGG>AGT		baculoviral IAP repeat-containing 6							42.0	42.0	42.0					2																	32640813		2203	4299	6502	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640813G>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.2454G>T	2.37:g.32640813G>T	ENSP00000393596:p.Arg818Ser						p.R818S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2588	+	Acute lymphoblastic leukemia(172;0.155)		818					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2454G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615111	0.28712	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.65	4.66	0.58398	.	0.118192	0.53938	D	0.000049	T	0.57621	0.2066	N	0.24115	0.695	0.35994	D	0.836926	B	0.09022	0.002	B	0.01281	0.0	T	0.61715	-0.7006	10	0.66056	D	0.02	.	6.5715	0.22541	0.2518:0.0:0.7482:0.0	.	818	Q9NR09	BIRC6_HUMAN	S	818	ENSP00000393596:R818S	ENSP00000393596:R818S	R	+	3	2	BIRC6	32494317	0.958000	0.32768	0.998000	0.56505	0.972000	0.66771	1.644000	0.37228	2.667000	0.90743	0.655000	0.94253	AGG		0.353	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		8	46	1	0	5.18039e-06	0.00308	6.26229e-06	8	46				
BIRC6	57448	broad.mit.edu	37	2	32740258	32740258	+	Silent	SNP	A	A	T	rs551821574		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:32740258A>T	ENST00000421745.2	+	55	10904	c.10770A>T	c.(10768-10770)tcA>tcT	p.S3590S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3590					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.S3562S(1)|p.S3590S(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)					ATCTTAGTTCATCTTTAACAG	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10768-10770)TCA>TCT		baculoviral IAP repeat-containing 6							111.0	109.0	110.0					2																	32740258		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740258A>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.10770A>T	2.37:g.32740258A>T							p.S3590S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	10904	+	Acute lymphoblastic leukemia(172;0.155)		3590					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.10770A>T	CCDS33175.2																																																																																				0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	61	0	0	0	0.001984	0	6	61				
QPCT	25797	broad.mit.edu	37	2	37599510	37599510	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:37599510C>T	ENST00000338415.3	+	6	993	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	QPCT_ENST00000537448.1_Missense_Mutation_p.H230Y	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	279					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.H279Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACATGAACTTCATGAATTGGG	0.338																																							uc002rqg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(835-837)CAT>TAT		glutaminyl-peptide cyclotransferase precursor							171.0	168.0	169.0					2																	37599510		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599510C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.835C>T	2.37:g.37599510C>T	ENSP00000344829:p.His279Tyr					QPCT_uc002rqh.2_Missense_Mutation_p.H230Y	p.H279Y	NM_012413	NP_036545	Q16769	QPCT_HUMAN			6	957	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	279					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.835C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.130923	0.21041	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.42	2.62	0.31277	Peptidase M28 (1);	0.199985	0.52532	N	0.000074	T	0.45418	0.1341	M	0.77406	2.37	0.09310	N	0.999992	B;B	0.18013	0.025;0.017	B;B	0.11329	0.004;0.006	T	0.39354	-0.9618	10	0.37606	T	0.19	-20.643	8.6261	0.33890	0.0:0.7546:0.0:0.2454	.	230;279	Q16769-2;Q16769	.;QPCT_HUMAN	Y	279;230;230;44	ENSP00000344829:H279Y;ENSP00000385391:H230Y;ENSP00000441606:H230Y;ENSP00000389227:H44Y	ENSP00000344829:H279Y	H	+	1	0	QPCT	37453014	0.936000	0.31750	0.054000	0.19295	0.914000	0.54420	1.044000	0.30329	0.334000	0.23590	0.655000	0.94253	CAT		0.338	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			37	174	0	0	0	0.005524	0	37	174				
KCNG3	170850	broad.mit.edu	37	2	42671100	42671100	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:42671100T>A	ENST00000306078.1	-	2	1880	c.1285A>T	c.(1285-1287)Agc>Tgc	p.S429C	KCNG3_ENST00000394973.4_Missense_Mutation_p.S418C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	429					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S429C(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTGGAGAGGCTCCTACTATAC	0.368																																							uc002rsn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1285-1287)AGC>TGC		potassium voltage-gated channel, subfamily G,							96.0	95.0	95.0					2																	42671100		2203	4300	6503	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671100T>A	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.1285A>T	2.37:g.42671100T>A	ENSP00000304127:p.Ser429Cys					KCNG3_uc002rsm.2_Missense_Mutation_p.S418C	p.S429C	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN			2	1881	-			429			Cytoplasmic (Potential).		Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.1285A>T	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313601	0.60414	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97505	-4.3;-4.41	5.5	5.5	0.81552	.	0.105083	0.64402	D	0.000001	D	0.97071	0.9043	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.99;0.995	D	0.98370	1.0553	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	429;418	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	C	429;418	ENSP00000304127:S429C;ENSP00000378424:S418C	ENSP00000304127:S429C	S	-	1	0	KCNG3	42524604	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.492000	0.81482	2.090000	0.63153	0.460000	0.39030	AGC		0.368	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		13	91	0	0	0	0.001855	0	13	91				
PLEKHH2	130271	broad.mit.edu	37	2	43953436	43953436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:43953436G>C	ENST00000282406.4	+	17	2677	c.2567G>C	c.(2566-2568)tGg>tCg	p.W856S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	856	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.W856S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCAAACTCTGGGAGGCTAAA	0.353																																							uc010yny.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2566-2568)TGG>TCG		pleckstrin homology domain containing, family H							79.0	76.0	77.0					2																	43953436		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43953436G>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2567G>C	2.37:g.43953436G>C	ENSP00000282406:p.Trp856Ser					PLEKHH2_uc002rtf.3_Missense_Mutation_p.W855S	p.W856S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			17	2650	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	856			PH 2.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2567G>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253073	0.39797	.	.	ENSG00000152527	ENST00000282406	T	0.17854	2.25	5.18	5.18	0.71444	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.121721	0.64402	D	0.000012	T	0.21267	0.0512	L	0.44542	1.39	0.80722	D	1	B;P	0.50617	0.242;0.937	B;P	0.46850	0.112;0.529	T	0.00491	-1.1708	10	0.45353	T	0.12	-4.6781	14.8482	0.70275	0.0:0.0:0.8474:0.1526	.	856;293	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	S	856	ENSP00000282406:W856S	ENSP00000282406:W856S	W	+	2	0	PLEKHH2	43806940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.319000	0.79040	2.552000	0.86080	0.585000	0.79938	TGG		0.353	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		7	63	0	0	0	0.001984	0	7	63				
SLC3A1	6519	broad.mit.edu	37	2	44527217	44527217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:44527217G>T	ENST00000260649.6	+	5	1075	c.999G>T	c.(997-999)aaG>aaT	p.K333N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.K333N|SLC3A1_ENST00000409294.1_5'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.K55N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.K333N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.K333N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.K333N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	333					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.K333N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAGTAAATAAGACCCAAATCC	0.383																																							uc002ruc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(997-999)AAG>AAT		solute carrier family 3, member 1	L-Cystine(DB00138)						103.0	102.0	103.0					2																	44527217		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44527217G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.999G>T	2.37:g.44527217G>T	ENSP00000260649:p.Lys333Asn					SLC3A1_uc002rty.2_Missense_Mutation_p.K333N|SLC3A1_uc002rtz.2_Missense_Mutation_p.K333N|SLC3A1_uc002rua.2_Missense_Mutation_p.K333N|SLC3A1_uc002rub.2_Missense_Mutation_p.K333N|SLC3A1_uc002rud.3_Missense_Mutation_p.K55N	p.K333N	NM_000341	NP_000332	Q07837	SLC31_HUMAN			5	1077	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	333			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.999G>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036195	0.35893	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.99488	-6.0;-6.0;-4.97;-6.0;-6.0;-6.0;-4.97	5.36	3.04	0.35103	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.515050	0.23056	N	0.052436	D	0.98185	0.9400	L	0.38733	1.17	0.09310	N	1	P;P;P;P;P	0.49307	0.459;0.601;0.858;0.656;0.922	B;B;P;P;P	0.53360	0.408;0.408;0.511;0.511;0.724	D	0.95193	0.8310	10	0.17369	T	0.5	-4.1571	6.9194	0.24378	0.462:0.0:0.538:0.0	.	333;333;333;333;333	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	333;333;269;333;333;333;333;55;111	ENSP00000260649:K333N;ENSP00000387308:K333N;ENSP00000387337:K333N;ENSP00000386954:K333N;ENSP00000386620:K333N;ENSP00000386709:K55N;ENSP00000391642:K111N	ENSP00000260649:K333N	K	+	3	2	SLC3A1	44380721	0.000000	0.05858	0.006000	0.13384	0.922000	0.55478	0.531000	0.23052	0.345000	0.23873	0.655000	0.94253	AAG		0.383	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		16	82	1	0	2.31682e-05	0.003163	2.70915e-05	16	82				
FBXO11	80204	broad.mit.edu	37	2	48059590	48059590	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:48059590C>A	ENST00000403359.3	-	11	1368	c.1296G>T	c.(1294-1296)gcG>gcT	p.A432A	FBXO11_ENST00000316377.4_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Silent_p.A348A	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328			"""Mis, F, D"""		DLBCL																																		uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					4	Whole gene deletion(2)|Substitution - coding silent(2)		haematopoietic_and_lymphoid_tissue(2)|prostate(1)|lung(1)	ovary(1)|lung(1)	2						c.(1042-1044)GCG>GCT		F-box only protein 11 isoform 1							76.0	77.0	77.0					2																	48059590		2203	4300	6503	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059590C>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1296G>T	2.37:g.48059590C>A						FBXO11_uc002rwe.2_Silent_p.A348A|FBXO11_uc002rwf.2_Silent_p.A348A|FBXO11_uc002rwg.1_Silent_p.A348A|FBXO11_uc010fbk.2_5'UTR	p.A348A	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1158	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	432			PbH1 2.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.1044G>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530386	0.13127	.	.	ENSG00000138081	ENST00000493962	.	.	.	5.95	-3.57	0.04612	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	-5.6348	5.8004	0.18410	0.129:0.4462:0.0591:0.3657	.	.	.	.	F	224	.	.	V	-	1	0	FBXO11	47913094	0.488000	0.25996	0.960000	0.40013	0.916000	0.54674	-0.121000	0.10643	-0.948000	0.03668	-2.737000	0.00128	GTT		0.328	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		10	51	1	0	3.86212e-05	0.008291	4.46834e-05	10	51				
GTF2A1L	11036	broad.mit.edu	37	2	48896865	48896865	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:48896865C>T	ENST00000403751.3	+	7	1020	c.983C>T	c.(982-984)tCt>tTt	p.S328F	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S1032F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1032F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1032F|LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1032F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S985F|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S294F	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	328					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S1032F(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTAGGATTCTAATTCTCAG	0.294																																							uc010yol.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2953-2955)TCT>TTT		stonin 1							84.0	94.0	91.0					2																	48896865		2202	4299	6501	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48896865C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.983C>T	2.37:g.48896865C>T	ENSP00000384597:p.Ser328Phe					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S1032F|GTF2A1L_uc002rws.1_Missense_Mutation_p.S328F|GTF2A1L_uc010yom.1_Missense_Mutation_p.S294F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S328F	p.S985F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3001	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	985					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2954C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.222968	0.22457	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.94	3.07	0.35406	.	0.703054	0.13661	N	0.371567	T	0.55721	0.1938	M	0.68952	2.095	0.80722	D	1	P;P;P;P;P	0.45283	0.753;0.561;0.855;0.792;0.734	B;B;P;B;B	0.50490	0.227;0.114;0.642;0.337;0.337	T	0.54754	-0.8246	10	0.66056	D	0.02	.	10.1564	0.42825	0.1499:0.6958:0.1543:0.0	.	294;985;1032;328;1032	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	F	1032;1032;1032;1032;985;327;294;328	ENSP00000385499:S1032F;ENSP00000385701:S1032F;ENSP00000378236:S1032F;ENSP00000311493:S1032F;ENSP00000378234:S985F;ENSP00000387896:S294F;ENSP00000384597:S328F	ENSP00000384597:S328F	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48750369	1.000000	0.71417	0.881000	0.34555	0.426000	0.31534	2.894000	0.48640	0.623000	0.30267	0.561000	0.74099	TCT		0.294	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		15	148	0	0	0	0.004007	0	15	148				
FSHR	2492	broad.mit.edu	37	2	49190600	49190600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:49190600C>A	ENST00000406846.2	-	10	1479	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	FSHR_ENST00000541117.1_Nonsense_Mutation_p.E190*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.E392*|FSHR_ENST00000304421.4_Nonsense_Mutation_p.E428*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	454					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E454*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACTGACAGCTCACTGGCAAAG	0.512									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1360-1362)GAG>TAG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						74.0	71.0	72.0					2																	49190600		2203	4300	6503	SO:0001587	stop_gained	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190600C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1360G>T	2.37:g.49190600C>A	ENSP00000384708:p.Glu454*					FSHR_uc002rwx.2_Nonsense_Mutation_p.E392*|FSHR_uc010fbn.2_Nonsense_Mutation_p.E428*	p.E454*	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1434	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	454			Helical; Name=3; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonsense_Mutation	SNP	ENST00000406846.2	37	c.1360G>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	36	5.789151	0.96945	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8715	0.92317	0.0:1.0:0.0:0.0	.	.	.	.	X	454;392;428;190	.	.	E	-	1	0	FSHR	49044104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GAG		0.512	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	58	1	0	2.17888e-05	0.006214	2.56155e-05	9	58				
NRXN1	9378	broad.mit.edu	37	2	50149359	50149359	+	Missense_Mutation	SNP	G	G	T	rs199697191		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:50149359G>T	ENST00000406316.2	-	22	5633	c.4157C>A	c.(4156-4158)cCg>cAg	p.P1386Q	NRXN1_ENST00000405472.3_Missense_Mutation_p.P1408Q|NRXN1_ENST00000342183.5_Missense_Mutation_p.P351Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.P1416Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.P1386Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.P1408Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.P1456Q|NRXN1_ENST00000401710.1_Missense_Mutation_p.P404Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1386					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|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)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.P1386Q(1)|p.P351Q(1)|p.P1456Q(1)|p.P1457Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTGGATACGGCTCTCTGCC	0.527																																							uc010fbp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1051-1053)CCG>CAG		neurexin 1 isoform beta precursor							45.0	39.0	41.0					2																	50149359		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149359G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4157C>A	2.37:g.50149359G>T	ENSP00000384311:p.Pro1386Gln					NRXN1_uc002rxb.3_Missense_Mutation_p.P1085Q|NRXN1_uc010fbq.2_Missense_Mutation_p.P1456Q|NRXN1_uc002rxe.3_Missense_Mutation_p.P1386Q|NRXN1_uc010yon.1_Missense_Mutation_p.P51Q|NRXN1_uc002rxa.3_Missense_Mutation_p.P48Q	p.P351Q	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1859	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	351			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1052C>A	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.655|7.655	0.683792|0.683792	0.14907|0.14907	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315	T;T;T;T;T;T;T;T|.	0.70749|.	1.02;2.2;0.19;0.15;-0.51;-0.4;-0.11;0.02|.	5.22|5.22	3.2|3.2	0.36748|0.36748	.|.	229.385000|.	0.02366|.	U|.	0.077393|.	T|T	0.32224|0.32224	0.0822|0.0822	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.25007|.	0.005;0.011;0.116;0.0;0.001;0.007|.	B;B;B;B;B;B|.	0.26310|.	0.001;0.068;0.033;0.001;0.001;0.008|.	T|T	0.19192|0.19192	-1.0313|-1.0313	10|5	0.49607|.	T|.	0.09|.	.|.	10.6129|10.6129	0.45432|0.45432	0.0:0.0:0.5484:0.4516|0.0:0.0:0.5484:0.4516	.|.	51;1456;351;1386;1405;48|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.	.;.;NRX1B_HUMAN;.;.;.|.	Q|S	351;305;404;1456;1386;1408;1416;1457;1408;1386|119	ENSP00000341184:P351Q;ENSP00000385580:P404Q;ENSP00000385142:P1456Q;ENSP00000384311:P1386Q;ENSP00000434015:P1408Q;ENSP00000385017:P1416Q;ENSP00000385434:P1408Q;ENSP00000385681:P1386Q|.	ENSP00000341184:P351Q|.	P|R	-|-	2|1	0|0	NRXN1|NRXN1	50002863|50002863	0.880000|0.880000	0.30214|0.30214	0.861000|0.861000	0.33841|0.33841	0.799000|0.799000	0.45148|0.45148	1.384000|1.384000	0.34396|0.34396	1.454000|1.454000	0.47793|0.47793	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.527	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	45	1	0	0.00621372	0.006214	0.00654636	8	45				
NRXN1	9378	broad.mit.edu	37	2	50847255	50847255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:50847255C>A	ENST00000406316.2	-	8	2701	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.G401W|NRXN1_ENST00000401669.2_Missense_Mutation_p.G409W|NRXN1_ENST00000406859.3_Missense_Mutation_p.G409W|NRXN1_ENST00000402717.3_Missense_Mutation_p.G401W|NRXN1_ENST00000404971.1_Missense_Mutation_p.G449W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	409	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|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)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G449W(1)|p.G450W(1)|p.G409W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGACCCCAGCATGGTA	0.473																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1345-1347)GGG>TGG		neurexin 1 isoform alpha2 precursor							67.0	68.0	67.0					2																	50847255		2043	4222	6265	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50847255C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1225G>T	2.37:g.50847255C>A	ENSP00000384311:p.Gly409Trp					NRXN1_uc002rxb.3_Missense_Mutation_p.G81W|NRXN1_uc002rxe.3_Missense_Mutation_p.G409W|NRXN1_uc002rxc.1_RNA	p.G449W	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2822	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1345G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587574	0.66105	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.14;-1.32;-1.14;-1.32	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88313	0.2957	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	449;409;401	Q9ULB1-3;F8WB18;A7E294	.;.;.	W	449;409;401;409;450;401;409	ENSP00000385142:G449W;ENSP00000384311:G409W;ENSP00000434015:G401W;ENSP00000385017:G409W;ENSP00000385434:G401W;ENSP00000385681:G409W	ENSP00000385017:G409W	G	-	1	0	NRXN1	50700759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGG		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	30	1	0	0.00909568	0.009096	0.00951132	4	30				
PSME4	23198	broad.mit.edu	37	2	54125016	54125016	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:54125016T>A	ENST00000404125.1	-	31	3652	c.3597A>T	c.(3595-3597)gtA>gtT	p.V1199V	PSME4_ENST00000421748.2_Silent_p.V343V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.V1085V(1)|p.V1199V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTTTCGAACTACAATTGCAT	0.418																																							uc002rxp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(3595-3597)GTA>GTT		proteasome (prosome, macropain) activator							137.0	129.0	132.0					2																	54125016		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54125016T>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3597A>T	2.37:g.54125016T>A						PSME4_uc010yop.1_Silent_p.V1085V|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.V574V|PSME4_uc010fbv.1_Silent_p.V343V	p.V1199V	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		31	3653	-			1199			HEAT 3.		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3597A>T	CCDS33197.2																																																																																				0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		38	118	0	0	0	0.00623	0	38	118				
WDPCP	51057	broad.mit.edu	37	2	63401863	63401863	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:63401863A>T	ENST00000272321.7	-	15	2547	c.2020T>A	c.(2020-2022)Tct>Act	p.S674T	WDPCP_ENST00000398544.3_Missense_Mutation_p.S515T|WDPCP_ENST00000409120.1_Missense_Mutation_p.S482T|WDPCP_ENST00000409199.1_Missense_Mutation_p.S482T	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	674					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S674T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GTTGGGCAAGAGGGAGGGAGG	0.423																																							uc002sch.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2020-2022)TCT>ACT		hypothetical protein LOC51057 isoform 2							145.0	133.0	137.0					2																	63401863		1857	4100	5957	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63401863A>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2020T>A	2.37:g.63401863A>T	ENSP00000272321:p.Ser674Thr					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S515T|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S482T	p.S674T	NM_015910	NP_056994	O95876	FRITZ_HUMAN			15	2466	-			674					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.2020T>A	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	0.074	-1.196435	0.01594	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.72167	-0.63;-0.05;-0.05;-0.05	5.29	2.88	0.33553	.	0.577866	0.14929	N	0.290207	T	0.44582	0.1300	N	0.12182	0.205	0.09310	N	1	B;B	0.19817	0.039;0.027	B;B	0.20384	0.01;0.029	T	0.17684	-1.0361	10	0.20519	T	0.43	-0.1194	1.5619	0.02596	0.5513:0.1742:0.094:0.1806	.	674;515	O95876;O95876-3	FRITZ_HUMAN;.	T	674;482;482;515	ENSP00000272321:S674T;ENSP00000386592:S482T;ENSP00000386769:S482T;ENSP00000381552:S515T	ENSP00000272321:S674T	S	-	1	0	WDPCP	63255367	0.909000	0.30893	0.361000	0.25849	0.509000	0.34042	1.540000	0.36115	0.819000	0.34492	0.416000	0.27883	TCT		0.423	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		14	120	0	0	0	0.004007	0	14	120				
MEIS1	4211	broad.mit.edu	37	2	66670112	66670112	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:66670112G>T	ENST00000272369.9	+	6	1019	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	MEIS1_ENST00000560281.2_Missense_Mutation_p.D188Y|MEIS1_ENST00000444274.2_Missense_Mutation_p.D156Y|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000488550.1_Missense_Mutation_p.D188Y|MEIS1_ENST00000407092.2_Missense_Mutation_p.D188Y|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_Missense_Mutation_p.D123Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.D186Y	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	188					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.D188Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TTTGGTGATAGACGATAGAGA	0.378																																							uc002sdu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAC>TAC		Meis homeobox 1							181.0	178.0	179.0					2																	66670112		1891	4147	6038	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66670112G>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.562G>T	2.37:g.66670112G>T	ENSP00000272369:p.Asp188Tyr					MEIS1_uc002sdt.2_Missense_Mutation_p.D188Y|MEIS1_uc002sdv.2_Missense_Mutation_p.D186Y|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.D123Y|MEIS1_uc002sdw.1_Missense_Mutation_p.D44Y	p.D188Y	NM_002398	NP_002389	O00470	MEIS1_HUMAN			6	1019	+			188					A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.562G>T	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789001	0.70337	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.97	5.97	0.96955	.	0.046217	0.85682	D	0.000000	T	0.62539	0.2436	M	0.74467	2.265	0.80722	D	1	D;D;D;P	0.76494	0.998;0.993;0.999;0.933	D;D;D;D	0.67900	0.952;0.945;0.954;0.914	T	0.63400	-0.6646	10	0.87932	D	0	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	123;186;188;188	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	Y	188;188;186;156;123;8;44;44	ENSP00000272369:D188Y;ENSP00000384461:D188Y;ENSP00000381518:D186Y;ENSP00000403206:D156Y;ENSP00000440571:D123Y;ENSP00000397418:D44Y	ENSP00000272369:D188Y	D	+	1	0	MEIS1	66523616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAC		0.378	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		55	175	1	0	2.01807e-28	0.00361	3.84841e-28	55	175				
PPP3R1	5534	broad.mit.edu	37	2	68415748	68415748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:68415748C>A	ENST00000234310.3	-	3	521	c.118G>T	c.(118-120)Gtg>Ttg	p.V40L	PPP3R1_ENST00000409752.1_Missense_Mutation_p.V59L|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.V30L|PPP3R1_ENST00000409377.1_Missense_Mutation_p.V30L	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)	p.V40L(1)		large_intestine(1)	1						AACTCTTCCACACTCAAAGAA	0.368																																							uc002sei.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GTG>TTG		protein phosphatase 3, regulatory subunit B,	Pimecrolimus(DB00337)						96.0	92.0	93.0					2																	68415748		1845	4093	5938	SO:0001583	missense	5534				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	g.chr2:68415748C>A	M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.118G>T	2.37:g.68415748C>A	ENSP00000234310:p.Val40Leu						p.V40L	NM_000945	NP_000936	P63098	CANB1_HUMAN			3	510	-			40			EF-hand 1.|1.		B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Missense_Mutation	SNP	ENST00000234310.3	37	c.118G>T	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264954	0.80358	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	T;T;T	0.71341	-0.56;-0.56;-0.56	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.31926	0.97	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.55134	-0.8188	10	0.27082	T	0.32	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	40	P63098	CANB1_HUMAN	L	40;59;30	ENSP00000234310:V40L;ENSP00000387216:V59L;ENSP00000387148:V30L	ENSP00000234310:V40L	V	-	1	0	PPP3R1	68269252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.738000	0.84966	2.814000	0.96858	0.655000	0.94253	GTG		0.368	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945		12	81	1	0	2.80697e-09	0.000978	3.89847e-09	12	81				
AAK1	22848	broad.mit.edu	37	2	69706164	69706164	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:69706164C>A	ENST00000409085.4	-	20	2975	c.2599G>T	c.(2599-2601)Gat>Tat	p.D867Y	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	867					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.D867Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGAGAGCAATCAAGCAGGGAA	0.463																																							uc002sfp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2599-2601)GAT>TAT		AP2 associated kinase 1							128.0	133.0	131.0					2																	69706164		1931	4150	6081	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69706164C>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2599G>T	2.37:g.69706164C>A	ENSP00000386456:p.Asp867Tyr						p.D867Y	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			20	3104	-			867					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.2599G>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094820	0.76870	.	.	ENSG00000115977	ENST00000409085	T	0.27256	1.68	5.88	5.88	0.94601	.	.	.	.	.	T	0.35278	0.0926	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.11767	-1.0574	9	0.72032	D	0.01	0.4205	19.2304	0.93836	0.0:1.0:0.0:0.0	.	867	Q2M2I8	AAK1_HUMAN	Y	867	ENSP00000386456:D867Y	ENSP00000386456:D867Y	D	-	1	0	AAK1	69559668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.565000	0.60836	2.788000	0.95919	0.650000	0.86243	GAT		0.463	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		11	134	1	0	1.11149e-13	0.008291	1.7871e-13	11	134				
PCBP1	5093	broad.mit.edu	37	2	70315923	70315923	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:70315923G>C	ENST00000303577.5	+	1	1339	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	350					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E350Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GCTTTCCTCTGAGAAGGGCAT	0.502																																					Colon(85;1146 1307 3484 18706 25380)	Colon(85;1146 1307 3484 18706 25380)	uc002sgf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)GAG>CAG		poly(rC) binding protein 1							32.0	33.0	32.0					2																	70315923		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315923G>C		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1048G>C	2.37:g.70315923G>C	ENSP00000305556:p.Glu350Gln					ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	p.E350Q	NM_006196	NP_006187	Q15365	PCBP1_HUMAN			1	1339	+			350					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.1048G>C	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161618	0.21538	.	.	ENSG00000169564	ENST00000303577	T	0.39787	1.06	3.88	3.88	0.44766	.	0.138786	0.45867	D	0.000327	T	0.45736	0.1357	M	0.84219	2.685	0.46725	D	0.999176	B	0.18968	0.032	B	0.19946	0.027	T	0.48305	-0.9047	10	0.38643	T	0.18	.	11.6329	0.51187	0.0:0.0:1.0:0.0	.	350	Q15365	PCBP1_HUMAN	Q	350	ENSP00000305556:E350Q	ENSP00000305556:E350Q	E	+	1	0	PCBP1	70169427	.	.	1.000000	0.80357	0.989000	0.77384	.	.	2.464000	0.83262	0.563000	0.77884	GAG		0.502	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		6	54	0	0	0	0.001168	0	6	54				
ATP6V1B1	525	broad.mit.edu	37	2	71190322	71190322	+	Missense_Mutation	SNP	C	C	A	rs147187470	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:71190322C>A	ENST00000234396.4	+	10	1013	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R314S|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	314					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R314S(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGTGCCTGGGCGCCGAGGGTT	0.607																																							uc002shj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(940-942)CGC>AGC		ATPase, H+ transporting, lysosomal 56/58kDa, V1							85.0	89.0	87.0					2																	71190322		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71190322C>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.940C>A	2.37:g.71190322C>A	ENSP00000234396:p.Arg314Ser					ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R314S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.R272S	p.R314S	NM_001692	NP_001683	P15313	VATB1_HUMAN			10	1027	+			314					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.940C>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462966	0.84425	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.79454	-1.27;-1.27	4.99	4.99	0.66335	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.075261	0.49916	N	0.000139	D	0.88112	0.6349	M	0.88979	2.995	0.80722	D	1	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.68353	0.916;0.943;0.957	D	0.89343	0.3655	10	0.72032	D	0.01	-10.8713	10.7972	0.46468	0.1887:0.8113:0.0:0.0	.	289;314;314	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	S	314;289;314	ENSP00000234396:R314S;ENSP00000388353:R314S	ENSP00000234396:R314S	R	+	1	0	ATP6V1B1	71043830	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.678000	0.54627	2.612000	0.88384	0.650000	0.86243	CGC		0.607	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		34	154	1	0	2.40579e-17	0.00623	4.1568e-17	34	154				
CYP26B1	56603	broad.mit.edu	37	2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	rs148075682	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:72359460C>T	ENST00000001146.2	-	6	1638	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	479			V -> I (in dbSNP:rs148075682). {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.V479I(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		17593	0.002		0.0	False		,,,				2504	0.0						uc002sih.1		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(2)	2						c.(1435-1437)GTC>ATC		cytochrome P450, family 26, subfamily b,		C	ILE/VAL	0,4404		0,0,2202	45.0	39.0	41.0		1435	3.8	0.9	2	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	missense	CYP26B1	NM_019885.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	479/513	72359460	1,13001	2202	4299	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359460C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1435G>A	2.37:g.72359460C>T	ENSP00000001146:p.Val479Ile					CYP26B1_uc010yra.1_Missense_Mutation_p.V462I|CYP26B1_uc010yrb.1_Missense_Mutation_p.V404I	p.V479I	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			6	1435	-			479		V -> I.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1435G>A	CCDS1919.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.723	1.160211	0.21454	0.0	1.16E-4	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68624	-0.34;-0.34;-0.34	5.64	3.77	0.43336	.	0.118844	0.56097	N	0.000028	T	0.44829	0.1312	N	0.16130	0.375	0.52099	D	0.999943	B;B;B	0.14438	0.01;0.005;0.003	B;B;B	0.15484	0.009;0.006;0.013	T	0.18618	-1.0331	10	0.15066	T	0.55	-1.2951	9.6914	0.40131	0.0:0.8206:0.0:0.1794	.	404;462;479	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	I	479;288;404	ENSP00000001146:V479I;ENSP00000401465:V288I;ENSP00000443304:V404I	ENSP00000001146:V479I	V	-	1	0	CYP26B1	72212968	0.996000	0.38824	0.929000	0.37066	0.995000	0.86356	3.328000	0.52052	0.780000	0.33566	0.655000	0.94253	GTC		0.642	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		9	22	0	0	0	0.001855	0	9	22				
ALMS1	7840	broad.mit.edu	37	2	73799562	73799562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:73799562G>T	ENST00000264448.6	+	16	10666	c.10555G>T	c.(10555-10557)Gac>Tac	p.D3519Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.D3477Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3519					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.D3519Y(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						GCATCATCCAGACAAACATAG	0.383																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(10561-10563)GAC>TAC		Alstrom syndrome 1							88.0	81.0	83.0					2																	73799562		1885	4115	6000	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73799562G>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.10555G>T	2.37:g.73799562G>T	ENSP00000264448:p.Asp3519Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.D3477Y|ALMS1_uc002sjg.2_Missense_Mutation_p.D2907Y|ALMS1_uc002sjh.1_Missense_Mutation_p.D2907Y	p.D3521Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	10672	+			3519					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.10561G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685868	0.29962	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	5.08	3.26	0.37387	.	0.666605	0.13233	N	0.403483	T	0.18718	0.0449	L	0.43152	1.355	0.09310	N	0.999997	D;D;D	0.89917	0.997;1.0;0.994	D;D;P	0.76071	0.975;0.987;0.906	T	0.05241	-1.0897	10	0.66056	D	0.02	.	7.9885	0.30226	0.1952:0.0:0.8048:0.0	.	3519;3477;3519	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	3477;3519	ENSP00000386627:D3477Y;ENSP00000264448:D3519Y	ENSP00000264448:D3519Y	D	+	1	0	ALMS1	73653070	0.979000	0.34478	0.972000	0.41901	0.462000	0.32619	2.853000	0.48317	1.158000	0.42547	0.655000	0.94253	GAC		0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		24	44	1	0	3.5997e-14	0.002299	5.85472e-14	24	44				
ALMS1	7840	broad.mit.edu	37	2	73800051	73800051	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:73800051G>C	ENST00000264448.6	+	16	11155	c.11044G>C	c.(11044-11046)Gag>Cag	p.E3682Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3640Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3682					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.E3682Q(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						TAAAAGCCTAGAGAAAAGCCA	0.383																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11050-11052)GAG>CAG		Alstrom syndrome 1							70.0	70.0	70.0					2																	73800051		1829	4084	5913	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73800051G>C	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.11044G>C	2.37:g.73800051G>C	ENSP00000264448:p.Glu3682Gln					ALMS1_uc002sjf.1_Missense_Mutation_p.E3640Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E3070Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E3070Q	p.E3684Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	11161	+			3682					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11050G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393669	0.62066	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08370	3.1;3.1	5.11	5.11	0.69529	.	0.299408	0.24287	N	0.039845	T	0.18467	0.0443	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.989;0.989	P;P;P	0.62184	0.899;0.848;0.848	T	0.00456	-1.1728	10	0.46703	T	0.11	.	16.3961	0.83605	0.0:0.0:1.0:0.0	.	3682;3640;3682	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Q	3640;3682	ENSP00000386627:E3640Q;ENSP00000264448:E3682Q	ENSP00000264448:E3682Q	E	+	1	0	ALMS1	73653559	0.444000	0.25649	0.028000	0.17463	0.863000	0.49368	2.755000	0.47540	2.553000	0.86117	0.609000	0.83330	GAG		0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		16	89	0	0	0	0.003163	0	16	89				
ACTG2	72	broad.mit.edu	37	2	74140716	74140716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:74140716C>A	ENST00000409624.1	+	7	1199	c.556C>A	c.(556-558)Ctc>Atc	p.L186I	ACTG2_ENST00000409731.3_Missense_Mutation_p.L143I|ACTG2_ENST00000345517.3_Missense_Mutation_p.L186I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	186					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L186I(1)		large_intestine(3)|lung(14)|skin(1)	18						TGGCCGTGACCTCACGGACTA	0.547																																							uc002sjw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)CTC>ATC		actin, gamma 2 propeptide							146.0	127.0	133.0					2																	74140716		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74140716C>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.556C>A	2.37:g.74140716C>A	ENSP00000386857:p.Leu186Ile					ACTG2_uc010fey.2_Missense_Mutation_p.L186I|ACTG2_uc010yrn.1_Missense_Mutation_p.L143I	p.L186I	NM_001615	NP_001606	P63267	ACTH_HUMAN			6	678	+			186					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.556C>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971963	0.74246	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96334	-3.98;-3.98;-3.98	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	D	0.95548	0.8553	L	0.49640	1.575	0.48762	D	0.999709	B;B	0.30068	0.267;0.003	B;B	0.38712	0.28;0.23	D	0.94949	0.8098	10	0.87932	D	0	.	17.4481	0.87584	0.0:1.0:0.0:0.0	.	143;186	E9PG30;P63267	.;ACTH_HUMAN	I	143;186;186	ENSP00000386929:L143I;ENSP00000295137:L186I;ENSP00000386857:L186I	ENSP00000295137:L186I	L	+	1	0	ACTG2	73994224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.875000	0.69660	2.733000	0.93635	0.557000	0.71058	CTC		0.547	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		14	122	1	0	6.72482e-11	0.003163	9.9582e-11	14	122				
TET3	200424	broad.mit.edu	37	2	74328907	74328907	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:74328907C>A	ENST00000409262.3	+	9	4587	c.4587C>A	c.(4585-4587)ctC>ctA	p.L1529L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1529					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.L1529L(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCATCCTCATCGAGTGTG	0.652																																							uc002skb.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(4585-4587)CTC>CTA		tet oncogene family member 3							35.0	42.0	40.0					2																	74328907		2077	4209	6286	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328907C>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4587C>A	2.37:g.74328907C>A							p.L1529L	NM_144993	NP_659430	O43151	TET3_HUMAN			9	4587	+			1529					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.4587C>A	CCDS46339.1																																																																																				0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	73	1	0	3.86212e-05	0.008291	4.46834e-05	11	73				
GCFC2	6936	broad.mit.edu	37	2	75928379	75928379	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:75928379C>A	ENST00000321027.3	-	4	787	c.654G>T	c.(652-654)caG>caT	p.Q218H	GCFC2_ENST00000541687.1_Missense_Mutation_p.Q218H|GCFC2_ENST00000409857.3_Missense_Mutation_p.Q180H	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	218					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)	p.Q218H(1)									TTTCATCTTCCTGACTTTCTT	0.343																																						Esophageal Squamous(141;1502 1784 15043 37622 47064)	uc002sno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(652-654)CAG>CAT		hypothetical protein LOC6936							202.0	168.0	179.0					2																	75928379		2203	4299	6502	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75928379C>A	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.654G>T	2.37:g.75928379C>A	ENSP00000318690:p.Gln218His					C2orf3_uc010ffs.2_Translation_Start_Site|C2orf3_uc002snn.2_Missense_Mutation_p.Q49H|C2orf3_uc010fft.2_Translation_Start_Site	p.Q218H	NM_003203	NP_003194	P16383	GCF_HUMAN			4	784	-			218					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.654G>T	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911272	0.33721	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	T;T;T;T	0.49720	2.47;1.4;2.51;0.77	4.85	2.95	0.34219	.	0.695645	0.14109	N	0.340822	T	0.42832	0.1220	M	0.67953	2.075	0.38527	D	0.948881	B	0.12013	0.005	B	0.10450	0.005	T	0.39761	-0.9598	10	0.49607	T	0.09	-3.4199	5.5075	0.16862	0.1972:0.6934:0.0:0.1094	.	218	P16383	GCF_HUMAN	H	218;218;180;143	ENSP00000318690:Q218H;ENSP00000437767:Q218H;ENSP00000386552:Q180H;ENSP00000415831:Q143H	ENSP00000318690:Q218H	Q	-	3	2	C2orf3	75781887	0.576000	0.26700	1.000000	0.80357	0.926000	0.56050	-0.542000	0.06091	0.652000	0.30806	0.655000	0.94253	CAG		0.343	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		7	42	1	0	7.48243e-07	0.006214	9.3972e-07	7	42				
LRRTM4	80059	broad.mit.edu	37	2	77746569	77746569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:77746569G>T	ENST00000409093.1	-	3	762	c.426C>A	c.(424-426)taC>taA	p.Y142*	LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.Y143*|LRRTM4_ENST00000409088.3_Nonsense_Mutation_p.Y142*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.Y142*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.Y143*			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	142					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.Y142*(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAAGCTTATTGTAGGAGAGGT	0.383																																							uc002snr.2		NA																	2	Substitution - Nonsense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(424-426)TAC>TAA		leucine rich repeat transmembrane neuronal 4							96.0	86.0	89.0					2																	77746569		1850	4085	5935	SO:0001587	stop_gained	80059					integral to membrane		g.chr2:77746569G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.426C>A	2.37:g.77746569G>T	ENSP00000386357:p.Tyr142*					LRRTM4_uc002snq.2_Nonsense_Mutation_p.Y142*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.Y142*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.Y143*	p.Y142*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	841	-			142			LRR 4.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Nonsense_Mutation	SNP	ENST00000409093.1	37	c.426C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	38	6.932371	0.97944	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3331	0.90277	0.0:0.0:1.0:0.0	.	.	.	.	X	143;142;142;142;143	.	ENSP00000386236:Y142X	Y	-	3	2	LRRTM4	77600077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.674000	0.91012	0.655000	0.94253	TAC		0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		20	46	1	0	1.9806e-07	0.002299	2.57792e-07	20	46				
DNAH6	1768	broad.mit.edu	37	2	84784942	84784942	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:84784942T>G	ENST00000237449.6	+	10	1694	c.1686T>G	c.(1684-1686)gcT>gcG	p.A562A	DNAH6_ENST00000398278.2_Silent_p.A562A|DNAH6_ENST00000389394.3_Silent_p.A562A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	562	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.A141A(1)|p.A562A(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGATGCTTTCACCAGCC	0.383																																							uc010fgb.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1684-1686)GCT>GCG		dynein, axonemal, heavy polypeptide 6							146.0	138.0	140.0					2																	84784942		2203	4300	6503	SO:0001819	synonymous_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784942T>G	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1686T>G	2.37:g.84784942T>G						DNAH6_uc002soo.2_Silent_p.A141A|DNAH6_uc002sop.2_Silent_p.A141A	p.A562A	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			11	1823	+			562			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	c.1686T>G	CCDS46348.1																																																																																				0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		26	242	0	0	0	0.007291	0	26	242				
DNAH6	1768	broad.mit.edu	37	2	84784945	84784945	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:84784945C>T	ENST00000237449.6	+	10	1697	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	DNAH6_ENST00000398278.2_Silent_p.F563F|DNAH6_ENST00000389394.3_Silent_p.F563F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	563	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.F142F(1)|p.F563F(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTGATGCTTTCACCAGCCCTT	0.373																																							uc010fgb.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1687-1689)TTC>TTT		dynein, axonemal, heavy polypeptide 6							142.0	134.0	137.0					2																	84784945		2203	4300	6503	SO:0001819	synonymous_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784945C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1689C>T	2.37:g.84784945C>T						DNAH6_uc002soo.2_Silent_p.F142F|DNAH6_uc002sop.2_Silent_p.F142F	p.F563F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			11	1826	+			563			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	c.1689C>T	CCDS46348.1																																																																																				0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		25	245	0	0	0	0.007291	0	25	245				
ELMOD3	84173	broad.mit.edu	37	2	85590289	85590290	+	Splice_Site	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:85590289_85590290GG>TT	ENST00000409890.2	+	6	866	c.199_199GG>TT	c.(199-201)GGgt>TTggt	p.G67L	ELMOD3_ENST00000409344.3_Splice_Site_p.G67L|ELMOD3_ENST00000393852.4_Splice_Site_p.G67L|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Splice_Site_p.G67L|ELMOD3_ENST00000315658.7_Splice_Site_p.G67L|ELMOD3_ENST00000428955.2_Splice_Site_p.G67L			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	67					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GGAGCCACGTGGTAAGGTTCCC	0.505																																							uc002spf.3		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e7+1		ELMO/CED-12 domain containing 3 isoform b																																				SO:0001630	splice_region_variant	84173				phagocytosis	cytoskeleton		g.chr2:85590289_85590290GG>TT	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	Exception_encountered	2.37:g.85590289_85590290delinsTT						ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Splice_Site_p.V67_splice|ELMOD3_uc002sph.3_Splice_Site_p.V67_splice|ELMOD3_uc010ysn.1_Splice_Site_p.V67_splice|ELMOD3_uc010yso.1_Splice_Site|ELMOD3_uc010ysp.1_Splice_Site	p.V67_splice	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			7	864	+								B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Splice_Site	DNP	ENST00000409890.2	37	c.199_splice	CCDS46352.1																																																																																				0.505	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213	Missense_Mutation	8	39	0	0	0	0.004672	0	8	39				
CD8B	926	broad.mit.edu	37	2	87085311	87085311	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:87085311G>T	ENST00000390655.6	-	2	330	c.272C>A	c.(271-273)gCt>gAt	p.A91D	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.A91D|CD8B_ENST00000393761.2_Missense_Mutation_p.A91D|CD8B_ENST00000349455.3_Missense_Mutation_p.A91D|CD8B_ENST00000331469.2_Missense_Mutation_p.A91D	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	91	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.A91D(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCGAAACACAGCTATCTTCTC	0.567																																							uc002srz.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(271-273)GCT>GAT		CD8b antigen isoform 5 precursor							111.0	99.0	103.0					2																	87085311		2203	4297	6500	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085311G>T		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.272C>A	2.37:g.87085311G>T	ENSP00000375070:p.Ala91Asp					RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.A91D|CD8B_uc002srx.2_Missense_Mutation_p.A91D|CD8B_uc002sry.2_Missense_Mutation_p.A91D|CD8B_uc010fgt.2_Missense_Mutation_p.A91D|CD8B_uc002ssa.2_Missense_Mutation_p.A91D|CD8B_uc010yto.1_Missense_Mutation_p.A91D	p.A91D	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	322	-			91			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.272C>A	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616071	0.28801	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.35	-3.11	0.05299	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.974000	0.08481	N	0.939519	T	0.35008	0.0917	N	0.08118	0	0.09310	N	1	P;P;B;P;P;P	0.43352	0.775;0.546;0.376;0.804;0.478;0.622	B;B;B;B;B;B	0.38225	0.268;0.173;0.124;0.137;0.079;0.108	T	0.27536	-1.0071	10	0.72032	D	0.01	0.0205	5.0095	0.14304	0.4835:0.0:0.3772:0.1393	.	91;91;91;91;91;91	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	D	91	ENSP00000377358:A91D;ENSP00000377356:A91D;ENSP00000340592:A91D;ENSP00000331172:A91D;ENSP00000375070:A91D	ENSP00000331172:A91D	A	-	2	0	CD8B	86938822	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.882000	0.04174	-0.759000	0.04684	-0.378000	0.06908	GCT		0.567	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		15	182	1	0	3.52763e-06	0.00499	4.28807e-06	15	182				
SMYD1	150572	broad.mit.edu	37	2	88409926	88409926	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:88409926C>A	ENST00000419482.2	+	10	1453	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.F443L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	456					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.F456L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGAACGAATTCATGTACTACA	0.567																																							uc002ssr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1366-1368)TTC>TTA		SET and MYND domain containing 1							85.0	67.0	73.0					2																	88409926		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88409926C>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1368C>A	2.37:g.88409926C>A	ENSP00000393453:p.Phe456Leu					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.F152L	p.F456L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			10	1370	+			456					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.1368C>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199778	0.58126	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25579	1.79;1.8	5.41	5.41	0.78517	.	0.152291	0.64402	D	0.000010	T	0.18173	0.0436	L	0.27053	0.805	0.80722	D	1	B	0.30406	0.278	B	0.25759	0.063	T	0.03673	-1.1014	10	0.62326	D	0.03	-23.4306	11.6254	0.51142	0.0:0.9191:0.0:0.0809	.	456	Q8NB12	SMYD1_HUMAN	L	456;443;277	ENSP00000393453:F456L;ENSP00000407888:F443L	ENSP00000295833:F277L	F	+	3	2	SMYD1	88191041	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.231000	0.32624	2.540000	0.85666	0.655000	0.94253	TTC		0.567	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		6	40	1	0	2.7689e-08	0.001984	3.71198e-08	6	40				
MRPS5	64969	broad.mit.edu	37	2	95774150	95774150	+	Missense_Mutation	SNP	C	C	A	rs372157685		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:95774150C>A	ENST00000272418.2	-	5	615	c.407G>T	c.(406-408)cGt>cTt	p.R136L		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	136					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R136L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AAAACCATAACGCCCTGAAGG	0.388																																							uc002sub.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(406-408)CGT>CTT		mitochondrial ribosomal protein S5							61.0	61.0	61.0					2																	95774150		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95774150C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.407G>T	2.37:g.95774150C>A	ENSP00000272418:p.Arg136Leu					MRPS5_uc002suc.2_RNA|MRPS5_uc010yud.1_Missense_Mutation_p.R136L	p.R136L	NM_031902	NP_114108	P82675	RT05_HUMAN			5	625	-			136					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.407G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551575	0.45487	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.34	2.6	0.31112	.	0.053189	0.85682	D	0.000000	T	0.63283	0.2498	M	0.74258	2.255	0.58432	D	0.999997	P;P	0.48640	0.913;0.468	P;B	0.49708	0.62;0.131	T	0.64351	-0.6428	9	0.72032	D	0.01	-6.4674	9.76	0.40526	0.0:0.7811:0.0:0.2189	.	136;136	B4DIW8;P82675	.;RT05_HUMAN	L	136	.	ENSP00000272418:R136L	R	-	2	0	MRPS5	95137877	0.595000	0.26857	0.050000	0.19076	0.011000	0.07611	1.203000	0.32284	0.343000	0.23821	-1.523000	0.00931	CGT		0.388	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		23	76	1	0	9.57634e-11	0.00333	1.41382e-10	23	76				
ADRA2B	151	broad.mit.edu	37	2	96781416	96781416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:96781416G>T	ENST00000409345.3	-	1	568	c.473C>A	c.(472-474)cCg>cAg	p.P158Q		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.P158L(2)|p.P158Q(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGCCCGCGCGGCTGGGGGCC	0.637																																							uc002svi.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)	3						c.(472-474)CCG>CAG		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						26.0	32.0	30.0					2																	96781416		2091	4200	6291	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781416G>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.473C>A	2.37:g.96781416G>T	ENSP00000387281:p.Pro158Gln						p.P158Q	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	473	-			158			Extracellular (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.473C>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026992	0.35797	.	.	ENSG00000222040	ENST00000409345	T	0.71341	-0.56	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70692	0.3253	M	0.73430	2.235	0.32082	N	0.593056	B	0.30236	0.274	B	0.30105	0.111	T	0.74297	-0.3711	9	0.32370	T	0.25	.	15.137	0.72576	0.0:0.0:1.0:0.0	.	158	P18089	ADA2B_HUMAN	Q	158	ENSP00000387281:P158Q	ENSP00000387281:P158Q	P	-	2	0	ADRA2B	96145143	0.012000	0.17670	0.995000	0.50966	0.948000	0.59901	1.880000	0.39628	2.420000	0.82092	0.456000	0.33151	CCG		0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			12	56	1	0	2.27111e-07	0.001368	2.92893e-07	12	56				
NEURL3	93082	broad.mit.edu	37	2	97166207	97166207	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:97166207C>A	ENST00000310865.3	-	0	720							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										TGGTCCCATACACGTCCATCA	0.711																																							uc010yuo.1		NA																	0					0						c.(481-483)GTG>GTT		SubName: Full=cDNA FLJ54814;							14.0	16.0	15.0					2																	97166207		2002	4168	6170			93082							g.chr2:97166207C>A		CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97166207C>A						NEURL3_uc010fhx.2_RNA|NEURL3_uc002swc.2_RNA|NEURL3_uc010yup.1_Silent_p.V161V	p.V161V							2	554	-								C9DQJ5|C9DQJ6|C9DQJ7	Silent	SNP	ENST00000310865.3	37	c.483G>T																																																																																					0.711	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1	NM_138397		4	17	1	0	0.00909568	0.009096	0.00951132	4	17				
CNGA3	1261	broad.mit.edu	37	2	98996642	98996642	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:98996642T>C	ENST00000272602.2	+	3	259	c.220T>C	c.(220-222)Tcg>Ccg	p.S74P	CNGA3_ENST00000409937.1_Missense_Mutation_p.S78P|CNGA3_ENST00000393504.1_Missense_Mutation_p.S74P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S74P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.S74P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCCAGGCTGTCGCGCCTCAT	0.607																																							uc002syt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(220-222)TCG>CCG		cyclic nucleotide gated channel alpha 3 isoform							50.0	50.0	50.0					2																	98996642		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98996642T>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.220T>C	2.37:g.98996642T>C	ENSP00000272602:p.Ser74Pro					CNGA3_uc002syu.2_Missense_Mutation_p.S74P|CNGA3_uc010fij.2_Missense_Mutation_p.S78P	p.S74P	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			4	637	+			74					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.220T>C	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	5.291	0.239100	0.10023	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.19	2.76	0.32466	.	0.714590	0.13140	N	0.410684	T	0.63616	0.2526	M	0.67953	2.075	0.09310	N	0.999996	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.12156	0.004;0.007;0.006	T	0.51888	-0.8648	10	0.28530	T	0.3	.	5.275	0.15645	0.0:0.0994:0.1775:0.7231	.	78;74;74	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	P	74;74;74;78	ENSP00000377140:S74P;ENSP00000410070:S74P;ENSP00000272602:S74P;ENSP00000386761:S78P	ENSP00000272602:S74P	S	+	1	0	CNGA3	98363074	0.994000	0.37717	0.014000	0.15608	0.006000	0.05464	2.940000	0.49003	0.415000	0.25817	0.533000	0.62120	TCG		0.607	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		23	91	0	0	0	0.00333	0	23	91				
INPP4A	3631	broad.mit.edu	37	2	99169339	99169339	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:99169339C>T	ENST00000523221.1	+	13	1269	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	INPP4A_ENST00000409016.4_Silent_p.T423T|INPP4A_ENST00000409851.3_Silent_p.T418T|INPP4A_ENST00000545415.1_Silent_p.T423T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Silent_p.T423T|INPP4A_ENST00000409540.3_Silent_p.T423T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	423					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.T423T(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCCTGAAAACCCAAGTGAGTT	0.537																																							uc002syy.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(1267-1269)ACC>ACT		inositol polyphosphate-4-phosphatase, type 1							68.0	66.0	67.0					2																	99169339		2003	4167	6170	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99169339C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1269C>T	2.37:g.99169339C>T						INPP4A_uc010yvj.1_Silent_p.T423T|INPP4A_uc010yvk.1_Silent_p.T423T|INPP4A_uc002syx.2_Silent_p.T418T|INPP4A_uc010fik.2_Intron	p.T423T	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			15	1662	+			423					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.1269C>T	CCDS46369.1																																																																																				0.537	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		11	32	0	0	0	0.000978	0	11	32				
KIAA1211L	343990	broad.mit.edu	37	2	99413910	99413910	+	Missense_Mutation	SNP	C	C	A	rs369616356		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:99413910C>A	ENST00000397899.2	-	8	2838	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	836								p.G836V(1)									GTCCAAGGTCCCCCTCCGCTT	0.632																																							uc002szf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2506-2508)GGG>GTG		hypothetical protein LOC343990		C	VAL/GLY	1,4149		0,1,2074	87.0	91.0	90.0		2507	4.6	0.0	2		90	0,8394		0,0,4197	no	missense	C2orf55	NM_207362.2	109	0,1,6271	AA,AC,CC		0.0,0.0241,0.0080	probably-damaging	836/963	99413910	1,12543	2075	4197	6272	SO:0001583	missense	343990							g.chr2:99413910C>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2507G>T	2.37:g.99413910C>A	ENSP00000380996:p.Gly836Val						p.G836V	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			8	2801	-			836						Missense_Mutation	SNP	ENST00000397899.2	37	c.2507G>T	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818904	0.16607	2.41E-4	0.0	ENSG00000196872	ENST00000397899	D	0.84873	-1.91	5.45	4.57	0.56435	.	.	.	.	.	D	0.90390	0.6992	M	0.61703	1.905	0.25102	N	0.990774	D	0.89917	1.0	D	0.77557	0.99	T	0.82665	-0.0345	9	0.56958	D	0.05	-22.8807	12.0942	0.53744	0.0:0.8277:0.1723:0.0	.	836	Q6NV74	CB055_HUMAN	V	836	ENSP00000380996:G836V	ENSP00000380996:G836V	G	-	2	0	C2orf55	98780342	0.900000	0.30661	0.042000	0.18584	0.057000	0.15508	2.585000	0.46111	1.508000	0.48769	0.655000	0.94253	GGG		0.632	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		30	174	1	0	8.4185e-14	0.002445	1.36135e-13	30	174				
TBC1D8	11138	broad.mit.edu	37	2	101655070	101655070	+	Silent	SNP	G	G	T	rs368448239		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:101655070G>T	ENST00000376840.4	-	7	1082	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	TBC1D8_ENST00000409318.1_Silent_p.P376P			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	361					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P361P(1)|p.P376P(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGACAATGATGGGATGCGGCA	0.597																																							uc010fiv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1081-1083)CCC>CCA		TBC1 domain family, member 8							129.0	137.0	134.0					2																	101655070		2147	4238	6385	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101655070G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1083C>A	2.37:g.101655070G>T						TBC1D8_uc010yvw.1_Silent_p.P376P|TBC1D8_uc002tau.3_Silent_p.P118P	p.P361P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			7	1214	-			361					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.1083C>A	CCDS46375.1																																																																																				0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		30	167	1	0	1.30998e-17	0.005524	2.27141e-17	30	167				
IL18R1	8809	broad.mit.edu	37	2	103013214	103013214	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:103013214G>A	ENST00000409599.1	+	12	1850	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	IL18R1_ENST00000233957.1_Silent_p.L498L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	498	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.L498L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGAGTTCTGAAGTGGAAGG	0.363																																							uc002tbw.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1492-1494)CTG>CTA		interleukin 18 receptor 1 precursor							83.0	91.0	88.0					2																	103013214		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013214G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1494G>A	2.37:g.103013214G>A						IL18R1_uc010ywc.1_Silent_p.L497L|IL18R1_uc010ywd.1_Silent_p.L342L|IL18R1_uc010fiy.2_Silent_p.L498L	p.L498L	NM_003855	NP_003846	Q13478	IL18R_HUMAN			11	1644	+			498			TIR.|Cytoplasmic (Potential).		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1494G>A	CCDS2060.1																																																																																				0.363	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		20	136	0	0	0	0.001882	0	20	136				
ST6GAL2	84620	broad.mit.edu	37	2	107450570	107450570	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:107450570C>A	ENST00000409382.3	-	3	1586	c.976G>T	c.(976-978)Gct>Tct	p.A326S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A326S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A326S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	326					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.A326S(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						CGTGTAGGAGCAGAGTTAAAT	0.373																																							uc002tdq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(976-978)GCT>TCT		ST6 beta-galactosamide							178.0	172.0	174.0					2																	107450570		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.chr2:107450570C>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.976G>T	2.37:g.107450570C>A	ENSP00000386942:p.Ala326Ser					ST6GAL2_uc002tdr.2_Missense_Mutation_p.A326S|ST6GAL2_uc002tds.3_Missense_Mutation_p.A326S	p.A326S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			3	1095	-			326			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.976G>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281371	0.95489	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.53206	0.63;0.63;0.63	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.82068	-0.0640	10	0.87932	D	0	-20.5855	19.545	0.95291	0.0:1.0:0.0:0.0	.	326;326	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	326	ENSP00000355273:A326S;ENSP00000386942:A326S;ENSP00000387332:A326S	ENSP00000355273:A326S	A	-	1	0	ST6GAL2	106817002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCT		0.373	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		6	122	1	0	0.00116845	0.001168	0.00126555	6	122				
SLC5A7	60482	broad.mit.edu	37	2	108608567	108608567	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:108608567T>A	ENST00000264047.2	+	3	460	c.184T>A	c.(184-186)Tgg>Agg	p.W62R	SLC5A7_ENST00000409059.1_Missense_Mutation_p.W62R|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	62					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.W62R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCAGCTACCTGGGTCGGAGG	0.468																																							uc002tdv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(184-186)TGG>AGG		solute carrier family 5 (choline transporter),	Choline(DB00122)						152.0	129.0	137.0					2																	108608567		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608567T>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.184T>A	2.37:g.108608567T>A	ENSP00000264047:p.Trp62Arg					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.W62R|SLC5A7_uc010ywn.1_5'UTR	p.W62R	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	460	+			62			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.184T>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827004	0.90955	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87256	-2.23;-2.23	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95384	0.8475	10	0.45353	T	0.12	-6.4528	16.8061	0.85666	0.0:0.0:0.0:1.0	.	62	Q9GZV3	SC5A7_HUMAN	R	62	ENSP00000387346:W62R;ENSP00000264047:W62R	ENSP00000264047:W62R	W	+	1	0	SLC5A7	107974999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TGG		0.468	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			9	65	0	0	0	0.000978	0	9	65				
SLC5A7	60482	broad.mit.edu	37	2	108618378	108618378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:108618378C>A	ENST00000264047.2	+	6	899	c.623C>A	c.(622-624)tCa>tAa	p.S208*	SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.S208*|SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.S103*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	208					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.S208*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGCATTGTCACATCCTGCA	0.493																																							uc002tdv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(622-624)TCA>TAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						198.0	187.0	191.0					2																	108618378		2203	4300	6503	SO:0001587	stop_gained	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108618378C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.623C>A	2.37:g.108618378C>A	ENSP00000264047:p.Ser208*					SLC5A7_uc010ywm.1_Intron|SLC5A7_uc010fjj.2_Nonsense_Mutation_p.S208*|SLC5A7_uc010ywn.1_Nonsense_Mutation_p.S95*	p.S208*	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			6	899	+			208			Helical; (Potential).		Q53TF2	Nonsense_Mutation	SNP	ENST00000264047.2	37	c.623C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	40	8.188785	0.98696	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	5.29	5.29	0.74685	.	0.178371	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.6608	18.936	0.92586	0.0:1.0:0.0:0.0	.	.	.	.	X	208;103;208	.	ENSP00000264047:S208X	S	+	2	0	SLC5A7	107984810	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.078000	0.57606	2.473000	0.83533	0.643000	0.83706	TCA		0.493	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			31	167	1	0	1.26612e-14	0.003271	2.08512e-14	31	167				
RANBP2	5903	broad.mit.edu	37	2	109352661	109352661	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:109352661G>T	ENST00000283195.6	+	6	864	c.738G>T	c.(736-738)acG>acT	p.T246T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	246					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T246T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCTTCTTACGCTTTCCACTA	0.388																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(736-738)ACG>ACT		RAN binding protein 2							131.0	151.0	144.0					2																	109352661		2203	4298	6501	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352661G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.738G>T	2.37:g.109352661G>T							p.T246T	NM_006267	NP_006258	P49792	RBP2_HUMAN			6	864	+			246					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.738G>T	CCDS2079.1																																																																																				0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		31	172	1	0	9.65021e-13	0.002096	1.52666e-12	31	172				
SH3RF3	344558	broad.mit.edu	37	2	109964320	109964320	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:109964320C>G	ENST00000309415.6	+	2	764	c.764C>G	c.(763-765)cCa>cGa	p.P255R		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	255							zinc ion binding (GO:0008270)	p.P255R(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CAGCCCTTGCCACACGCCCCG	0.582																																							uc010ywt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)CCA>CGA		SH3 domain containing ring finger 3							41.0	47.0	45.0					2																	109964320		2101	4222	6323	SO:0001583	missense	344558						zinc ion binding	g.chr2:109964320C>G	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.764C>G	2.37:g.109964320C>G	ENSP00000309186:p.Pro255Arg						p.P255R	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			2	764	+			255					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.764C>G		.	.	.	.	.	.	.	.	.	.	C	13.63	2.294953	0.40594	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.31769	1.48;1.48	5.06	5.06	0.68205	Src homology-3 domain (1);	.	.	.	.	T	0.51907	0.1702	.	.	.	0.44024	D	0.996746	D	0.56287	0.975	P	0.57502	0.822	T	0.56619	-0.7949	8	0.66056	D	0.02	.	18.4244	0.90604	0.0:1.0:0.0:0.0	.	255	Q8TEJ3	SH3R3_HUMAN	R	255	ENSP00000414997:P255R;ENSP00000309186:P255R	ENSP00000309186:P255R	P	+	2	0	SH3RF3	109330752	0.942000	0.31987	0.886000	0.34754	0.161000	0.22273	2.530000	0.45641	2.335000	0.79485	0.555000	0.69702	CCA		0.582	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		6	31	0	0	0	0.001168	0	6	31				
SOWAHC	65124	broad.mit.edu	37	2	110373544	110373544	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:110373544A>T	ENST00000356454.3	+	1	1634	c.1478A>T	c.(1477-1479)cAg>cTg	p.Q493L	SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	493								p.Q493L(1)									GACCCAGAGCAGCCGCTGGAG	0.557																																							uc002tfb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)CAG>CTG		ankyrin repeat domain 57							34.0	40.0	38.0					2																	110373544		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373544A>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1478A>T	2.37:g.110373544A>T	ENSP00000365830:p.Gln493Leu					SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.Q493L	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1634	+			493					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1478A>T	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078764	0.36662	.	.	ENSG00000198142	ENST00000356454	T	0.48836	0.8	4.84	2.38	0.29361	.	1.081280	0.07371	N	0.885888	T	0.35682	0.0940	N	0.19112	0.55	0.09310	N	1	B	0.33694	0.421	B	0.35470	0.203	T	0.34229	-0.9837	10	0.59425	D	0.04	-15.7369	8.9173	0.35590	0.6104:0.3896:0.0:0.0	.	493	Q53LP3	ANR57_HUMAN	L	493	ENSP00000365830:Q493L	ENSP00000365830:Q493L	Q	+	2	0	ANKRD57	109730833	0.951000	0.32395	0.023000	0.16930	0.643000	0.38383	3.735000	0.55044	0.320000	0.23234	0.459000	0.35465	CAG		0.557	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		10	40	0	0	0	0.006122	0	10	40				
NPHP1	4867	broad.mit.edu	37	2	110881445	110881445	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:110881445C>T	ENST00000393272.3	-	20	2219	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	NPHP1_ENST00000445609.2_Missense_Mutation_p.D653N|NPHP1_ENST00000355301.4_Missense_Mutation_p.D590N|NPHP1_ENST00000417665.1_Missense_Mutation_p.D687N|NPHP1_ENST00000316534.4_Missense_Mutation_p.D709N|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	708					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.D709N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGAACTCCGTCTGGTGACAGC	0.498																																							uc002tfn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2122-2124)GAC>AAC		nephrocystin 1 isoform 2							119.0	106.0	111.0					2																	110881445		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110881445C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2122G>A	2.37:g.110881445C>T	ENSP00000376953:p.Asp708Asn					NPHP1_uc002tfm.3_Missense_Mutation_p.D653N|NPHP1_uc002tfl.3_Missense_Mutation_p.D709N|NPHP1_uc002tfo.3_Missense_Mutation_p.D590N|NPHP1_uc010ywx.1_Missense_Mutation_p.D652N	p.D708N	NM_207181	NP_997064	O15259	NPHP1_HUMAN			20	2216	-			708					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.2122G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962254	0.34659	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.7	5.7	0.88788	.	0.487218	0.22518	N	0.059020	T	0.60663	0.2286	L	0.43152	1.355	0.80722	D	1	B;P;P;B;P	0.44429	0.282;0.799;0.745;0.404;0.835	B;P;B;B;P	0.48227	0.159;0.466;0.367;0.302;0.571	T	0.56238	-0.8012	10	0.34782	T	0.22	-6.4901	18.4029	0.90523	0.0:1.0:0.0:0.0	.	652;590;708;653;709	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	N	709;653;708;590;687	ENSP00000313169:D709N;ENSP00000389879:D653N;ENSP00000376953:D708N;ENSP00000347452:D590N;ENSP00000402176:D687N	ENSP00000313169:D709N	D	-	1	0	NPHP1	110238734	0.999000	0.42202	0.033000	0.17914	0.205000	0.24178	3.741000	0.55090	2.690000	0.91761	0.462000	0.41574	GAC		0.498	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		26	126	0	0	0	0.008361	0	26	126				
TMEM87B	84910	broad.mit.edu	37	2	112832511	112832511	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:112832511G>T	ENST00000283206.4	+	5	842	c.473G>T	c.(472-474)aGa>aTa	p.R158I		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	158						integral component of membrane (GO:0016021)		p.R158I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATAAATATCAGAAATGTTTCA	0.279																																							uc002thm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)AGA>ATA		transmembrane protein 87B precursor							38.0	37.0	38.0					2																	112832511		2201	4293	6494	SO:0001583	missense	84910					integral to membrane		g.chr2:112832511G>T	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.473G>T	2.37:g.112832511G>T	ENSP00000283206:p.Arg158Ile					TMEM87B_uc010fkg.2_Intron|TMEM87B_uc010fkh.2_Intron	p.R158I	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			5	842	+			158					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.473G>T	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369337	0.24771	.	.	ENSG00000153214	ENST00000283206	.	.	.	4.64	1.85	0.25348	.	0.788139	0.12264	N	0.484477	T	0.31263	0.0791	L	0.31664	0.95	0.31705	N	0.640271	B	0.02656	0.0	B	0.01281	0.0	T	0.29058	-1.0024	9	0.30854	T	0.27	-4.3696	5.8693	0.18795	0.3212:0.0:0.6788:0.0	.	158	Q96K49	TM87B_HUMAN	I	158	.	ENSP00000283206:R158I	R	+	2	0	TMEM87B	112548982	0.686000	0.27661	0.368000	0.25939	0.795000	0.44927	0.607000	0.24209	0.649000	0.30751	0.655000	0.94253	AGA		0.279	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		3	19	1	0	6.4e-05	0.004672	7.35004e-05	3	19				
ACTR3	10096	broad.mit.edu	37	2	114699825	114699825	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:114699825G>T	ENST00000263238.2	+	8	1067	c.747G>T	c.(745-747)ggG>ggT	p.G249G	ACTR3_ENST00000536059.1_Silent_p.G187G|ACTR3_ENST00000535589.2_Silent_p.G198G	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	249					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.G249G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACAGATGGGTCAAAATGGA	0.318																																							uc002tkx.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(745-747)GGG>GGT		ARP3 actin-related protein 3 homolog							89.0	91.0	90.0					2																	114699825		2203	4296	6499	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114699825G>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.747G>T	2.37:g.114699825G>T						ACTR3_uc010yyc.1_Silent_p.G187G|ACTR3_uc010yyd.1_Silent_p.G198G	p.G249G	NM_005721	NP_005712	P61158	ARP3_HUMAN			8	1067	+			249					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.747G>T	CCDS33277.1																																																																																				0.318	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		10	51	1	0	2.52707e-12	0.006214	3.91905e-12	10	51				
DPP10	57628	broad.mit.edu	37	2	116525895	116525895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:116525895G>T	ENST00000410059.1	+	13	1616	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	DPP10_ENST00000310323.8_Missense_Mutation_p.R372I|DPP10_ENST00000409163.1_Missense_Mutation_p.R329I|DPP10_ENST00000393147.2_Missense_Mutation_p.R383I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	379						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.R372I(1)|p.R379I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGTTTTCTAGAGACGGCAGC	0.453																																							uc002tla.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1135-1137)AGA>ATA		dipeptidyl peptidase 10 isoform long							137.0	130.0	132.0					2																	116525895		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116525895G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1136G>T	2.37:g.116525895G>T	ENSP00000386565:p.Arg379Ile					DPP10_uc002tlb.1_Missense_Mutation_p.R329I|DPP10_uc002tlc.1_Missense_Mutation_p.R375I|DPP10_uc002tle.2_Missense_Mutation_p.R383I|DPP10_uc002tlf.1_Missense_Mutation_p.R372I	p.R379I	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			13	1593	+			379			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1136G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178657	0.57692	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.25	3.31	0.37934	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.163321	0.56097	D	0.000034	T	0.36663	0.0975	M	0.81802	2.56	0.58432	D	0.999991	B;P;B;B	0.47484	0.257;0.896;0.302;0.302	B;P;B;B	0.45998	0.185;0.5;0.281;0.281	T	0.30446	-0.9978	10	0.62326	D	0.03	-23.3984	5.195	0.15232	0.344:0.0:0.656:0.0	.	372;383;375;379	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	379;329;383;372;329	ENSP00000386565:R379I;ENSP00000387038:R329I;ENSP00000376855:R383I;ENSP00000309066:R372I	ENSP00000309066:R372I	R	+	2	0	DPP10	116242365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.924000	0.48876	1.439000	0.47511	0.655000	0.94253	AGA		0.453	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		5	62	1	0	0.00116845	0.001168	0.00126555	5	62				
MARCO	8685	broad.mit.edu	37	2	119750717	119750717	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:119750717G>A	ENST00000327097.4	+	16	1405	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	MARCO_ENST00000541757.1_Missense_Mutation_p.V346I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	424	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V424I(1)|p.V424F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTCAGTGTCCGTCAGGATTGT	0.517																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1270-1272)GTC>ATC		macrophage receptor with collagenous structure							117.0	108.0	111.0					2																	119750717		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119750717G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1270G>A	2.37:g.119750717G>A	ENSP00000318916:p.Val424Ile					MARCO_uc010yyf.1_Missense_Mutation_p.V346I	p.V424I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			16	1402	+			424			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1270G>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273296	0.23221	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.35236	1.32;1.32	6.07	5.18	0.71444	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.410669	0.21850	N	0.068181	T	0.34832	0.0911	L	0.45470	1.425	0.26199	N	0.979473	D	0.56287	0.975	P	0.44732	0.459	T	0.22417	-1.0217	9	.	.	.	.	11.6203	0.51113	0.0823:0.0:0.9177:0.0	.	424	Q9UEW3	MARCO_HUMAN	I	424;424;346	ENSP00000318916:V424I;ENSP00000441769:V346I	.	V	+	1	0	MARCO	119467187	0.975000	0.34042	0.448000	0.26945	0.037000	0.13140	3.462000	0.53042	1.553000	0.49476	0.655000	0.94253	GTC		0.517	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		39	159	0	0	0	0.009718	0	39	159				
GLI2	2736	broad.mit.edu	37	2	121744024	121744024	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:121744024G>C	ENST00000452319.1	+	13	2187	c.2127G>C	c.(2125-2127)ctG>ctC	p.L709L	GLI2_ENST00000314490.11_Silent_p.L381L|GLI2_ENST00000361492.4_Silent_p.L709L					GLI family zinc finger 2									p.L709L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCAGCCCTGGCTGCCCCCT	0.642																																							uc010flp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(2125-2127)CTG>CTC		GLI-Kruppel family member GLI2							43.0	46.0	45.0					2																	121744024		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744024G>C		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2127G>C	2.37:g.121744024G>C						GLI2_uc002tmq.1_Silent_p.L381L|GLI2_uc002tmr.1_Silent_p.L364L|GLI2_uc002tmt.3_Silent_p.L381L|GLI2_uc002tmu.3_Silent_p.L364L|GLI2_uc002tmw.1_Silent_p.L692L	p.L709L	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	2157	+	Renal(3;0.0496)	Prostate(154;0.0623)	709						Silent	SNP	ENST00000452319.1	37	c.2127G>C	CCDS33283.1																																																																																				0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		9	64	0	0	0	0.006214	0	9	64				
CNTNAP5	129684	broad.mit.edu	37	2	125504945	125504945	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:125504945C>A	ENST00000431078.1	+	14	2578	c.2214C>A	c.(2212-2214)gaC>gaA	p.D738E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	738	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D738E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATTGCGACGCTGACAAGG	0.483																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2212-2214)GAC>GAA		contactin associated protein-like 5 precursor							148.0	142.0	143.0					2																	125504945		2086	4231	6317	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504945C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2214C>A	2.37:g.125504945C>A	ENSP00000399013:p.Asp738Glu					CNTNAP5_uc010flu.2_Missense_Mutation_p.D739E	p.D738E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	14	2578	+			738			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2214C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185773	0.38609	.	.	ENSG00000155052	ENST00000431078	T	0.37411	1.2	6.04	-4.74	0.03249	.	0.000000	0.52532	D	0.000073	T	0.61211	0.2329	M	0.90369	3.11	0.48762	D	0.999701	D	0.89917	1.0	D	0.81914	0.995	T	0.68450	-0.5405	10	0.34782	T	0.22	.	17.6031	0.88030	0.0:0.6997:0.0:0.3003	.	738	Q8WYK1	CNTP5_HUMAN	E	738	ENSP00000399013:D738E	ENSP00000399013:D738E	D	+	3	2	CNTNAP5	125221415	0.062000	0.20869	0.199000	0.23439	0.012000	0.07955	-0.609000	0.05635	-1.120000	0.02953	-0.781000	0.03364	GAC		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	189	1	0	1.10513e-12	0.002299	1.73992e-12	19	189				
MYO7B	4648	broad.mit.edu	37	2	128387322	128387322	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:128387322G>T	ENST00000409816.2	+	33	4681	c.4649G>T	c.(4648-4650)aGg>aTg	p.R1550M	MYO7B_ENST00000409090.1_Missense_Mutation_p.R403M|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1550M|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1550M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1550	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1793M(1)|p.R1550M(1)		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)		CAGAACGACAGGACAGGCAAG	0.632																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(4648-4650)AGG>ATG		myosin VIIB							40.0	49.0	46.0					2																	128387322		2026	4171	6197	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128387322G>T		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	ENST00000409816.2:c.4649G>T	2.37:g.128387322G>T	ENSP00000386461:p.Arg1550Met					MYO7B_uc002tor.1_Missense_Mutation_p.R403M	p.R1550M	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	34	4702	+	Colorectal(110;0.1)		1550			SH3 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4649G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.212393	0.58452	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.83	4.93	0.64822	Src homology-3 domain (3);Variant SH3 (1);	0.182770	0.49916	D	0.000131	D	0.86276	0.5894	M	0.87381	2.88	0.48901	D	0.999727	D	0.89917	1.0	D	0.87578	0.998	D	0.88955	0.3389	10	0.72032	D	0.01	.	16.8221	0.85835	0.0:0.1287:0.8713:0.0	.	1550	Q6PIF6	MYO7B_HUMAN	M	1550;1550;645;1550;403	ENSP00000374175:R1550M;ENSP00000415090:R1550M;ENSP00000386461:R1550M;ENSP00000386850:R403M	ENSP00000272666:R645M	R	+	2	0	MYO7B	128103792	1.000000	0.71417	0.011000	0.14972	0.075000	0.17131	6.221000	0.72243	1.414000	0.47017	0.655000	0.94253	AGG		0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	19	1	0	2.7689e-08	0.001984	3.71198e-08	6	19				
UGGT1	56886	broad.mit.edu	37	2	128873837	128873837	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:128873837A>G	ENST00000259253.6	+	8	840		c.e8-1		UGGT1_ENST00000375990.3_Splice_Site	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTTTCATAGGAACTGAGG	0.299																																							uc002tps.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-2		UDP-glucose ceramide glucosyltransferase-like 1							107.0	107.0	107.0					2																	128873837		2203	4300	6503	SO:0001630	splice_region_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128873837A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.794-1A>G	2.37:g.128873837A>G						UGGT1_uc010fme.1_Splice_Site_p.G140_splice|UGGT1_uc002tpr.2_Splice_Site_p.G241_splice	p.G265_splice	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			8	972	+								Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Splice_Site	SNP	ENST00000259253.6	37	c.794_splice	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.348101	0.61183	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0243	0.71656	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGGT1	128590307	1.000000	0.71417	0.953000	0.39169	0.645000	0.38454	6.357000	0.73051	1.944000	0.56390	0.533000	0.62120	.		0.299	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	Intron	13	86	0	0	0	0.001855	0	13	86				
UGGT1	56886	broad.mit.edu	37	2	128880772	128880772	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:128880772A>C	ENST00000259253.6	+	11	1133	c.1086A>C	c.(1084-1086)aaA>aaC	p.K362N	UGGT1_ENST00000375990.3_Missense_Mutation_p.K338N|RN7SL206P_ENST00000580933.1_RNA	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	362					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K362N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAATAACAAAAACAGCTGTGA	0.299																																							uc002tps.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)AAA>AAC		UDP-glucose ceramide glucosyltransferase-like 1							44.0	46.0	45.0					2																	128880772		2203	4299	6502	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128880772A>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1086A>C	2.37:g.128880772A>C	ENSP00000259253:p.Lys362Asn					UGGT1_uc010fme.1_Missense_Mutation_p.K237N|UGGT1_uc002tpr.2_Missense_Mutation_p.K338N	p.K362N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			11	1264	+			362					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1086A>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.024440	0.54683	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.48201	0.82;0.82	5.58	5.58	0.84498	.	0.041245	0.85682	D	0.000000	T	0.41719	0.1171	L	0.48877	1.53	0.58432	D	0.999999	B;P	0.41313	0.03;0.745	B;B	0.41088	0.053;0.347	T	0.24870	-1.0148	10	0.25751	T	0.34	.	10.8838	0.46955	0.9266:0.0:0.0734:0.0	.	338;362	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	N	338;362	ENSP00000365158:K338N;ENSP00000259253:K362N	ENSP00000259253:K362N	K	+	3	2	UGGT1	128597242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.426000	0.52778	2.125000	0.65367	0.397000	0.26171	AAA		0.299	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		5	49	0	0	0	0.001168	0	5	49				
AMER3	205147	broad.mit.edu	37	2	131520421	131520421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:131520421C>A	ENST00000423981.1	+	2	886	c.776C>A	c.(775-777)tCg>tAg	p.S259*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.S259*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	259					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S259L(1)|p.S259*(1)									GATGAGAGCTCGGTGCCATCT	0.647																																							uc002trw.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	pancreas(2)|ovary(1)	3						c.(775-777)TCG>TAG		hypothetical protein LOC205147							52.0	59.0	57.0					2																	131520421		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131520421C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.776C>A	2.37:g.131520421C>A	ENSP00000392700:p.Ser259*					FAM123C_uc010fmv.2_Nonsense_Mutation_p.S259*|FAM123C_uc010fms.1_Nonsense_Mutation_p.S259*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.S259*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.S259*	p.S259*	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	966	+	Colorectal(110;0.1)		259					B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.776C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169278	0.78339	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	5.21	5.21	0.72293	.	0.308918	0.32106	N	0.006564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6944	0.51536	0.1768:0.8232:0.0:0.0	.	.	.	.	X	259	.	ENSP00000314914:S259X	S	+	2	0	FAM123C	131236891	0.983000	0.35010	0.971000	0.41717	0.047000	0.14425	2.858000	0.48356	2.597000	0.87782	0.561000	0.74099	TCG		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		29	145	1	0	5.77227e-19	0.008361	1.02711e-18	29	145				
POTEE	445582	broad.mit.edu	37	2	132021400	132021400	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:132021400A>G	ENST00000356920.5	+	15	2466	c.2372A>G	c.(2371-2373)tAc>tGc	p.Y791C	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	791	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y791C(1)									CACACCTTCTACAACGAGCTG	0.587																																							uc002tsn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2371-2373)TAC>TGC		protein expressed in prostate, ovary, testis,							45.0	47.0	46.0					2																	132021400		2188	4276	6464	SO:0001583	missense	445582						ATP binding	g.chr2:132021400A>G	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.2372A>G	2.37:g.132021400A>G	ENSP00000439189:p.Tyr791Cys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.Y391C|POTEE_uc002tsl.2_Missense_Mutation_p.Y373C|POTEE_uc010fmy.1_Missense_Mutation_p.Y255C	p.Y791C	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2424	+			791			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2372A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.314273	0.40996	.	.	ENSG00000188219	ENST00000356920	D	0.94576	-3.46	.	.	.	.	.	.	.	.	D	0.94532	0.8239	H	0.95187	3.635	0.80722	D	1	P	0.49783	0.928	B	0.41440	0.357	D	0.91220	0.5006	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	791	Q6S8J3	POTEE_HUMAN	C	791	ENSP00000439189:Y791C	ENSP00000439189:Y791C	Y	+	2	0	AC131180.1	131737870	1.000000	0.71417	0.234000	0.24042	0.237000	0.25408	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	TAC		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		27	136	0	0	0	0.002522	0	27	136				
MGAT5	4249	broad.mit.edu	37	2	135119873	135119873	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:135119873G>T	ENST00000409645.1	+	11	1526	c.1274G>T	c.(1273-1275)gGg>gTg	p.G425V	MGAT5_ENST00000281923.2_Missense_Mutation_p.G425V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	425					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.G425V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGCTTTCTGGGGTTTGTGGTT	0.433																																							uc002ttv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1273-1275)GGG>GTG		N-acetylglucosaminyltransferase V							188.0	196.0	194.0					2																	135119873		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135119873G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1274G>T	2.37:g.135119873G>T	ENSP00000386377:p.Gly425Val						p.G425V	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	10	1419	+			425			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1274G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954683	0.92726	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84864	0.0821	9	0.87932	D	0	-16.9439	20.2982	0.98569	0.0:0.0:1.0:0.0	.	425	Q09328	MGT5A_HUMAN	V	425	.	ENSP00000281923:G425V	G	+	2	0	MGAT5	134836343	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	9.595000	0.98260	2.803000	0.96430	0.655000	0.94253	GGG		0.433	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		97	345	1	0	1.16068e-44	0.00361	2.2957e-44	97	345				
ACMSD	130013	broad.mit.edu	37	2	135628551	135628551	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:135628551C>G	ENST00000356140.5	+	7	733	c.597C>G	c.(595-597)acC>acG	p.T199T	AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000392928.1_Silent_p.T141T|ACMSD_ENST00000283054.4_Silent_p.T141T|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	199					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.T199T(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAGCAGAGACCACCATAGCCA	0.448																																							uc002ttz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(595-597)ACC>ACG		aminocarboxymuconate semialdehyde decarboxylase							141.0	120.0	127.0					2																	135628551		2203	4300	6503	SO:0001819	synonymous_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135628551C>G	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.597C>G	2.37:g.135628551C>G						ACMSD_uc002tua.2_Silent_p.T141T|uc010zbe.1_Intron	p.T199T	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	7	664	+			199					Q3B7X3|Q53SR5|Q96KY2	Silent	SNP	ENST00000356140.5	37	c.597C>G	CCDS2173.2																																																																																				0.448	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			10	67	0	0	0	0.000978	0	10	67				
LRP1B	53353	broad.mit.edu	37	2	141032110	141032110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141032110C>T	ENST00000389484.3	-	85	13996	c.13025G>A	c.(13024-13026)aGt>aAt	p.S4342N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4342	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S4342N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTCAACACTTCCATCATC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13024-13026)AGT>AAT		low density lipoprotein-related protein 1B							155.0	125.0	135.0					2																	141032110		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032110C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13025G>A	2.37:g.141032110C>T	ENSP00000374135:p.Ser4342Asn	TSP Lung(27;0.18)					p.S4342N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	85	13997	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4342			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13025G>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.712859|2.712859	0.48517|0.48517	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90732|.	-2.72|.	5.36|5.36	3.38|3.38	0.38709|0.38709	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.379661|.	0.27275|.	U|.	0.020110|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.14661|0.14661	0.345|0.345	0.22446|0.22446	N|N	0.999099|0.999099	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.13853|.	T|.	0.58|.	.|.	8.2943|8.2943	0.31976|0.31976	0.0:0.6191:0.3005:0.0805|0.0:0.6191:0.3005:0.0805	.|.	4342|.	Q9NZR2|.	LRP1B_HUMAN|.	N|M	4342;4280|574;74	ENSP00000374135:S4342N|.	ENSP00000374135:S4342N|.	S|V	-|-	2|1	0|0	LRP1B|LRP1B	140748580|140748580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.256000|1.256000	0.32921|0.32921	1.189000|1.189000	0.43028|0.43028	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	82	0	0	0	0.008291	0	11	82				
LRP1B	53353	broad.mit.edu	37	2	141299535	141299535	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141299535T>A	ENST00000389484.3	-	44	8171	c.7200A>T	c.(7198-7200)atA>atT	p.I2400I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2400					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.I2400I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATTTAACTATCACCTGAA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7198-7200)ATA>ATT		low density lipoprotein-related protein 1B							47.0	45.0	46.0					2																	141299535		2203	4298	6501	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299535T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7200A>T	2.37:g.141299535T>A		TSP Lung(27;0.18)					p.I2400I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8172	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2400			Extracellular (Potential).|LDL-receptor class B 26.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7200A>T	CCDS2182.1																																																																																				0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	38	0	0	0	0.006214	0	10	38				
LRP1B	53353	broad.mit.edu	37	2	141473549	141473549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141473549C>A	ENST00000389484.3	-	37	6987	c.6016G>T	c.(6016-6018)Gag>Tag	p.E2006*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2006					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E2006K(1)|p.E2006*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCCTTTCTCTGGGTGCACA	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|skin(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6016-6018)GAG>TAG		low density lipoprotein-related protein 1B							96.0	98.0	97.0					2																	141473549		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473549C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6016G>T	2.37:g.141473549C>A	ENSP00000374135:p.Glu2006*	TSP Lung(27;0.18)					p.E2006*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6988	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2006			Extracellular (Potential).|LDL-receptor class B 20.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.6016G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	53	20.147023	0.99927	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.13	3.31	0.37934	.	0.082491	0.49305	U	0.000151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	10.1122	0.42570	0.0:0.7865:0.1388:0.0748	.	.	.	.	X	2006;1944	.	ENSP00000374135:E2006X	E	-	1	0	LRP1B	141190019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.655000	0.46707	1.153000	0.42468	0.650000	0.86243	GAG		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	64	1	0	0.00307968	0.00308	0.00327966	7	64				
LRP1B	53353	broad.mit.edu	37	2	141597618	141597618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141597618C>A	ENST00000389484.3	-	31	6122	c.5151G>T	c.(5149-5151)atG>atT	p.M1717I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1717					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.M1717I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATATTTGCCATGTTAATTG	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5149-5151)ATG>ATT		low density lipoprotein-related protein 1B							99.0	93.0	95.0					2																	141597618		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141597618C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5151G>T	2.37:g.141597618C>A	ENSP00000374135:p.Met1717Ile	TSP Lung(27;0.18)					p.M1717I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	31	6123	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1717			Extracellular (Potential).|LDL-receptor class B 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5151G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480132	0.44044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90504	-2.68	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.057246	0.64402	U	0.000002	D	0.87422	0.6173	L	0.41824	1.3	0.48975	D	0.999734	B	0.26195	0.144	B	0.18263	0.021	D	0.83699	0.0181	10	0.44086	T	0.13	.	19.3763	0.94510	0.0:1.0:0.0:0.0	.	1717	Q9NZR2	LRP1B_HUMAN	I	1717;1655	ENSP00000374135:M1717I	ENSP00000374135:M1717I	M	-	3	0	LRP1B	141314088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.241000	0.58707	2.583000	0.87209	0.460000	0.39030	ATG		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	20	1	0	0.000602214	0.000602	0.000663582	5	20				
LRP1B	53353	broad.mit.edu	37	2	141660594	141660594	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141660594G>T	ENST00000389484.3	-	23	4632	c.3661C>A	c.(3661-3663)Cat>Aat	p.H1221N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1221	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.H1221N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTTAGATGATTGCTACAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3661-3663)CAT>AAT		low density lipoprotein-related protein 1B							188.0	168.0	175.0					2																	141660594		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141660594G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3661C>A	2.37:g.141660594G>T	ENSP00000374135:p.His1221Asn	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.H403N	p.H1221N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	23	4633	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1221			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3661C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066410	0.36470	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92199	-2.5;-2.99	5.53	5.53	0.82687	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	N	0.13371	0.34	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.73380	0.953;0.98	D	0.89080	0.3475	10	0.16896	T	0.51	.	19.8389	0.96675	0.0:0.0:1.0:0.0	.	404;1221	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1221;1159;366	ENSP00000374135:H1221N;ENSP00000413239:H366N	ENSP00000374135:H1221N	H	-	1	0	LRP1B	141377064	1.000000	0.71417	0.133000	0.22050	0.327000	0.28475	9.752000	0.98900	2.755000	0.94549	0.650000	0.86243	CAT		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	93	1	0	0.000442599	0.006214	0.000490172	9	93				
LRP1B	53353	broad.mit.edu	37	2	141812791	141812791	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141812791C>G	ENST00000389484.3	-	10	2417	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	482	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.M482I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCCCCTGGCATTCCATATG	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1444-1446)ATG>ATC		low density lipoprotein-related protein 1B							107.0	95.0	99.0					2																	141812791		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812791C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1446G>C	2.37:g.141812791C>G	ENSP00000374135:p.Met482Ile	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.M482I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	10	2418	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	482			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1446G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104426	0.56291	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89485	-2.52	5.45	5.45	0.79879	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.140861	0.46758	U	0.000271	D	0.84297	0.5441	L	0.29908	0.895	0.38100	D	0.937249	B	0.17667	0.023	B	0.09377	0.004	T	0.80042	-0.1548	10	0.37606	T	0.19	.	19.2912	0.94100	0.0:1.0:0.0:0.0	.	482	Q9NZR2	LRP1B_HUMAN	I	482;420	ENSP00000374135:M482I	ENSP00000374135:M482I	M	-	3	0	LRP1B	141529261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.415000	0.59809	2.569000	0.86673	0.557000	0.71058	ATG		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	65	0	0	0	0.000978	0	10	65				
ARHGAP15	55843	broad.mit.edu	37	2	143959748	143959748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:143959748G>T	ENST00000295095.6	+	3	378	c.211G>T	c.(211-213)Gtc>Ttc	p.V71F	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.V71F	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	71					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.V71F(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTTGAAAGATGTCATTCCTCC	0.323																																							uc002tvm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(211-213)GTC>TTC		ARHGAP15							116.0	116.0	116.0					2																	143959748		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959748G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.211G>T	2.37:g.143959748G>T	ENSP00000295095:p.Val71Phe					ARHGAP15_uc010zbl.1_Missense_Mutation_p.V71F	p.V71F	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	362	+			71					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.211G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650395	0.14516	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08008	3.14	5.61	2.52	0.30459	.	0.789105	0.11959	N	0.512940	T	0.03871	0.0109	N	0.14661	0.345	0.33772	D	0.623228	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39313	-0.9620	10	0.09590	T	0.72	.	3.1712	0.06552	0.544:0.0:0.2539:0.2021	.	71;71	B4E0R3;Q53QZ3	.;RHG15_HUMAN	F	71	ENSP00000295095:V71F	ENSP00000295095:V71F	V	+	1	0	ARHGAP15	143676218	0.998000	0.40836	0.993000	0.49108	0.904000	0.53231	1.033000	0.30191	0.243000	0.21327	-0.225000	0.12378	GTC		0.323	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		21	66	1	0	1.50039e-11	0.001882	2.26613e-11	21	66				
RIF1	55183	broad.mit.edu	37	2	152311424	152311424	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:152311424C>T	ENST00000243326.5	+	21	2843	c.2360C>T	c.(2359-2361)tCa>tTa	p.S787L	RIF1_ENST00000444746.2_Missense_Mutation_p.S787L|RIF1_ENST00000430328.2_Missense_Mutation_p.S787L|RIF1_ENST00000453091.2_Missense_Mutation_p.S787L|RIF1_ENST00000428287.2_Missense_Mutation_p.S787L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S787L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGAGACCTTCAGATTGGTCC	0.328																																							uc002txm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(2359-2361)TCA>TTA		RAP1 interacting factor 1							41.0	42.0	42.0					2																	152311424		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311424C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2360C>T	2.37:g.152311424C>T	ENSP00000243326:p.Ser787Leu					RIF1_uc002txl.2_Missense_Mutation_p.S787L|RIF1_uc010fnv.1_Missense_Mutation_p.S751L|RIF1_uc002txn.2_Missense_Mutation_p.S787L|RIF1_uc002txo.2_Missense_Mutation_p.S787L	p.S787L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	22	2490	+			787					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2360C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015658	0.54468	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.65	5.65	0.86999	.	0.345849	0.30969	N	0.008502	D	0.97492	0.9179	L	0.51422	1.61	0.80722	D	1	B;P	0.43662	0.204;0.814	B;B	0.40864	0.08;0.342	D	0.98312	1.0524	10	0.72032	D	0.01	-9.4001	19.327	0.94265	0.0:1.0:0.0:0.0	.	787;787	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	787	ENSP00000390181:S787L;ENSP00000414615:S787L;ENSP00000415691:S787L;ENSP00000243326:S787L;ENSP00000416123:S787L	ENSP00000243326:S787L	S	+	2	0	RIF1	152019670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.265000	0.58865	2.668000	0.90789	0.655000	0.94253	TCA		0.328	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	56	0	0	0	0.004482	0	8	56				
SCN2A	6326	broad.mit.edu	37	2	166226697	166226697	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166226697A>T	ENST00000375437.2	+	20	4027	c.3737A>T	c.(3736-3738)gAc>gTc	p.D1246V	SCN2A_ENST00000357398.3_Missense_Mutation_p.D1246V|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1246V|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1246V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1246					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1246V(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATATGCTGACAAGGTTTTC	0.348																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3736-3738)GAC>GTC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						147.0	144.0	145.0					2																	166226697		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226697A>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3737A>T	2.37:g.166226697A>T	ENSP00000364586:p.Asp1246Val					SCN2A_uc002udd.2_Missense_Mutation_p.D1246V|SCN2A_uc002ude.2_Missense_Mutation_p.D1246V	p.D1246V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			20	4027	+			1246			Helical; Name=S2 of repeat III; (Potential).|III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3737A>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677508	0.88445	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.82	5.82	0.92795	Ion transport (1);	0.076701	0.56097	D	0.000035	D	0.99465	0.9810	H	0.99911	4.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97729	1.0201	10	0.87932	D	0	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	1246;1246	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1246	ENSP00000364586:D1246V;ENSP00000349973:D1246V;ENSP00000283256:D1246V;ENSP00000364576:D1246V	ENSP00000283256:D1246V	D	+	2	0	SCN2A	165934943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.232000	0.73038	0.528000	0.53228	GAC		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		23	132	0	0	0	0.001882	0	23	132				
CSRNP3	80034	broad.mit.edu	37	2	166536110	166536110	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166536110G>C	ENST00000342316.4	+	5	1877	c.1605G>C	c.(1603-1605)ttG>ttC	p.L535F	CSRNP3_ENST00000314499.7_Missense_Mutation_p.L535F|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L567F	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	535					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L535F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACTCATACTTGAAAGGCCCCT	0.453																																							uc002udf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(1603-1605)TTG>TTC		cysteine-serine-rich nuclear protein 3							87.0	82.0	84.0					2																	166536110		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166536110G>C	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1605G>C	2.37:g.166536110G>C	ENSP00000344042:p.Leu535Phe					CSRNP3_uc002udg.2_Missense_Mutation_p.L535F	p.L535F	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1981	+			535					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.1605G>C	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809558	0.50421	.	.	ENSG00000178662	ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.88	5.88	0.94601	.	0.077095	0.53938	D	0.000055	T	0.65407	0.2688	L	0.34521	1.04	0.45172	D	0.998181	D	0.69078	0.997	D	0.75484	0.986	T	0.63721	-0.6573	9	0.44086	T	0.13	-11.1795	13.4381	0.61096	0.0712:0.0:0.9288:0.0	.	535	Q8WYN3	CSRN3_HUMAN	F	472;535;535;567	.	ENSP00000318258:L535F	L	+	3	2	CSRNP3	166244356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.162000	0.50755	2.782000	0.95742	0.655000	0.94253	TTG		0.453	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		14	104	0	0	0	0.00499	0	14	104				
TTC21B	79809	broad.mit.edu	37	2	166737205	166737205	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166737205C>A	ENST00000243344.7	-	27	3926	c.3789G>T	c.(3787-3789)cgG>cgT	p.R1263R	TTC21B_ENST00000536175.1_Silent_p.R201R	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1263					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.R1263R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCGGATTTGTCCGATTGCTAT	0.333																																							uc002udk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3787-3789)CGG>CGT		tetratricopeptide repeat domain 21B							120.0	111.0	114.0					2																	166737205		2203	4300	6503	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166737205C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3789G>T	2.37:g.166737205C>A						TTC21B_uc002udj.1_RNA	p.R1263R	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			27	3922	-			1263			TPR 18.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.3789G>T	CCDS33315.1																																																																																				0.333	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		14	41	1	0	1.99824e-07	0.00499	2.59231e-07	14	41				
TTC21B	79809	broad.mit.edu	37	2	166788366	166788366	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166788366C>A	ENST00000243344.7	-	8	933	c.796G>T	c.(796-798)Gct>Tct	p.A266S	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	266					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.A266S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTGGTGGAAGCCTAAAACAAA	0.353																																							uc002udk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(796-798)GCT>TCT		tetratricopeptide repeat domain 21B							106.0	97.0	100.0					2																	166788366		2203	4300	6503	SO:0001630	splice_region_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166788366C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.796-1G>T	2.37:g.166788366C>A						TTC21B_uc002udl.2_Missense_Mutation_p.A266S|uc002udm.1_5'Flank	p.A266S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			8	929	-			266					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.796G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470306	0.43942	.	.	ENSG00000123607	ENST00000243344	T	0.76968	-1.06	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);	0.169377	0.52532	D	0.000066	T	0.81361	0.4806	L	0.55481	1.735	0.80722	D	1	D;P	0.53462	0.96;0.629	P;B	0.50860	0.652;0.202	T	0.81887	-0.0726	10	0.49607	T	0.09	-13.9758	18.9297	0.92560	0.0:1.0:0.0:0.0	.	266;266	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	S	266	ENSP00000243344:A266S	ENSP00000243344:A266S	A	-	1	0	TTC21B	166496612	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	3.447000	0.52936	2.549000	0.85964	0.650000	0.86243	GCT		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Missense_Mutation	7	30	1	0	3.09899e-07	0.004482	3.96541e-07	7	30				
SCN9A	6335	broad.mit.edu	37	2	167168062	167168062	+	Missense_Mutation	SNP	C	C	G	rs201243874		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:167168062C>G	ENST00000409435.1	-	1	204	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	SCN9A_ENST00000375387.4_Missense_Mutation_p.G69R|SCN9A_ENST00000303354.6_Missense_Mutation_p.G69R|SCN9A_ENST00000409672.1_Missense_Mutation_p.G69R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	69					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.G69R(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACACCATGCCGGGAGGAATG	0.483																																							uc010fpl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(205-207)GGC>CGC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						80.0	88.0	85.0					2																	167168062		2113	4280	6393	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168062C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.205G>C	2.37:g.167168062C>G	ENSP00000386330:p.Gly69Arg						p.G69R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			2	546	-			69					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.205G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	9.915	1.210465	0.22289	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95949	-3.84;-3.86;-3.86;-3.86	5.4	4.53	0.55603	.	0.000000	0.64402	D	0.000008	D	0.92948	0.7756	L	0.50919	1.6	0.29139	N	0.879168	B	0.29766	0.256	B	0.32724	0.151	D	0.89639	0.3861	10	0.66056	D	0.02	.	10.2719	0.43487	0.0:0.8466:0.0:0.1534	.	69	E7EUN6	.	R	69	ENSP00000386306:G69R;ENSP00000364536:G69R;ENSP00000304748:G69R;ENSP00000386330:G69R	ENSP00000304748:G69R	G	-	1	0	SCN9A	166876308	0.004000	0.15560	0.888000	0.34837	0.437000	0.31866	2.065000	0.41442	1.285000	0.44548	-0.148000	0.13756	GGC		0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		18	95	0	0	0	0.008871	0	18	95				
XIRP2	129446	broad.mit.edu	37	2	168100460	168100460	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168100460T>A	ENST00000409195.1	+	9	2647	c.2558T>A	c.(2557-2559)cTa>cAa	p.L853Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L631Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.L853Q|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	678					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.L853Q(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						TTAGACATTCTAAAAGAAGTT	0.368																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2557-2559)CTA>CAA		xin actin-binding repeat containing 2 isoform 1							108.0	106.0	107.0					2																	168100460		1843	4094	5937	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100460T>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.2558T>A	2.37:g.168100460T>A	ENSP00000386840:p.Leu853Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L678Q|XIRP2_uc010fpq.2_Missense_Mutation_p.L631Q|XIRP2_uc010fpr.2_Intron	p.L853Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2576	+			678					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.2558T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901498	0.52227	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11063	2.84;2.84;2.81	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.32941	0.0846	M	0.78637	2.42	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.06144	-1.0843	10	0.87932	D	0	-10.325	11.2647	0.49104	0.0:0.0728:0.0:0.9272	.	678;678;631	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	853;853;631	ENSP00000386840:L853Q;ENSP00000295237:L853Q;ENSP00000387255:L631Q	ENSP00000295237:L853Q	L	+	2	0	XIRP2	167808706	0.996000	0.38824	0.990000	0.47175	0.967000	0.64934	5.960000	0.70348	2.226000	0.72624	0.533000	0.62120	CTA		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		20	147	0	0	0	0.00333	0	20	147				
XIRP2	129446	broad.mit.edu	37	2	168101337	168101337	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168101337A>T	ENST00000409195.1	+	9	3524	c.3435A>T	c.(3433-3435)acA>acT	p.T1145T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T923T|XIRP2_ENST00000295237.9_Silent_p.T1145T|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	970					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.T1145T(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						ACTCTGAAACAGCAGTCAAAT	0.393																																							uc002udx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3433-3435)ACA>ACT		xin actin-binding repeat containing 2 isoform 1							78.0	71.0	73.0					2																	168101337		1852	4104	5956	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101337A>T	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.3435A>T	2.37:g.168101337A>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T970T|XIRP2_uc010fpq.2_Silent_p.T923T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.T1145T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3453	+			970					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.3435A>T	CCDS42769.1																																																																																				0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	70	0	0	0	0.008871	0	19	70				
XIRP2	129446	broad.mit.edu	37	2	168107012	168107012	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168107012C>A	ENST00000409195.1	+	9	9199	c.9110C>A	c.(9109-9111)tCc>tAc	p.S3037Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2815Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3037Y|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2862					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.S3037Y(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						ATGATGTCCTCCAAAACAGGA	0.318																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9109-9111)TCC>TAC		xin actin-binding repeat containing 2 isoform 1							95.0	90.0	92.0					2																	168107012		1829	4071	5900	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107012C>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.9110C>A	2.37:g.168107012C>A	ENSP00000386840:p.Ser3037Tyr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2862Y|XIRP2_uc010fpq.2_Missense_Mutation_p.S2815Y|XIRP2_uc010fpr.2_Intron	p.S3037Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9128	+			2862					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.9110C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524352	0.27299	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02890	4.12;4.12;4.12	5.88	5.88	0.94601	.	0.357322	0.30060	N	0.010519	T	0.12817	0.0311	M	0.67953	2.075	0.40657	D	0.982098	D;D;D	0.89917	0.996;0.998;1.0	P;D;D	0.72338	0.853;0.93;0.977	T	0.00043	-1.2224	10	0.62326	D	0.03	-7.5139	13.0285	0.58829	0.0:0.9229:0.0:0.0771	.	2862;2862;2815	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	3037;3037;2815;451	ENSP00000386840:S3037Y;ENSP00000295237:S3037Y;ENSP00000387255:S2815Y	ENSP00000295237:S3037Y	S	+	2	0	XIRP2	167815258	0.004000	0.15560	0.733000	0.30861	0.182000	0.23217	1.311000	0.33562	2.792000	0.96026	0.557000	0.71058	TCC		0.318	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	115	1	0	5.35267e-07	0.007413	6.77867e-07	15	115				
LRP2	4036	broad.mit.edu	37	2	170042197	170042197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:170042197G>A	ENST00000263816.3	-	50	9946	c.9661C>T	c.(9661-9663)Ctc>Ttc	p.L3221F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3221					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L3221F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCAAGATGAGGGAGTAAAAA	0.388																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9661-9663)CTC>TTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						160.0	161.0	160.0					2																	170042197		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042197G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9661C>T	2.37:g.170042197G>A	ENSP00000263816:p.Leu3221Phe						p.L3221F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9874	-			3221			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9661C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765760	0.90020	.	.	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	5.97	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.88031	2.925	0.80722	D	1	D	0.61080	0.989	P	0.57152	0.814	D	0.96427	0.9316	10	0.72032	D	0.01	.	16.7397	0.85456	0.0:0.0:0.8699:0.1301	.	3221	P98164	LRP2_HUMAN	F	3221	ENSP00000263816:L3221F	ENSP00000263816:L3221F	L	-	1	0	LRP2	169750443	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.760000	0.74939	1.527000	0.49086	0.655000	0.94253	CTC		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		27	244	0	0	0	0.005443	0	27	244				
BBS5	129880	broad.mit.edu	37	2	170356090	170356090	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:170356090C>G	ENST00000295240.3	+	9	1152	c.776C>G	c.(775-777)gCc>gGc	p.A259G	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A259G|BBS5_ENST00000392663.2_Missense_Mutation_p.A238G|BBS5_ENST00000554017.1_Missense_Mutation_p.A259G	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	259					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.A259G(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCTATTCTGCCAGTCCCATA	0.333									Bardet-Biedl syndrome																														uc010zdh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(775-777)GCC>GGC		Bardet-Biedl syndrome 5							132.0	135.0	134.0					2																	170356090		2203	4300	6503	SO:0001583	missense	10324		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170356090C>G	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.776C>G	2.37:g.170356090C>G	ENSP00000295240:p.Ala259Gly					BBS5_uc002uet.2_Missense_Mutation_p.A259G|BBS5_uc010fpw.2_Missense_Mutation_p.A238G	p.A259G	NM_152384	NP_689597	O60662	KBTBA_HUMAN			9	834	+			Error:Variant_position_missing_in_O60662_after_alignment					D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.776C>G	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166166	0.78339	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.80214	-0.98;-0.98;-1.35;-0.98	5.74	4.86	0.63082	.	0.045198	0.85682	D	0.000000	D	0.84456	0.5476	M	0.74881	2.28	0.58432	D	0.999997	D;P;P	0.55800	0.973;0.51;0.565	P;B;B	0.54924	0.764;0.23;0.341	T	0.82289	-0.0531	10	0.30078	T	0.28	-5.1556	11.4792	0.50316	0.0:0.8626:0.0:0.1374	.	259;238;259	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	G	259;259;238;259	ENSP00000295240:A259G;ENSP00000452313:A259G;ENSP00000376431:A238G;ENSP00000424363:A259G	ENSP00000295240:A259G	A	+	2	0	BBS5;RP11-724O16.1	170064336	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.037000	0.57311	2.711000	0.92665	0.591000	0.81541	GCC		0.333	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		26	99	0	0	0	0.005443	0	26	99				
RAPGEF4	11069	broad.mit.edu	37	2	173916400	173916400	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:173916400C>G	ENST00000397081.3	+	31	3084	c.2941C>G	c.(2941-2943)Cag>Gag	p.Q981E	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Q913E|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Q761E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Q837E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Q828E|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Q980E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Q810E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Q828E	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	981	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Q981E(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAAGAACCATCAGGATGTCCG	0.388																																							uc002uhv.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2941-2943)CAG>GAG		Rap guanine nucleotide exchange factor (GEF) 4							97.0	88.0	91.0					2																	173916400		1895	4121	6016	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173916400C>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2941C>G	2.37:g.173916400C>G	ENSP00000380271:p.Gln981Glu					RAPGEF4_uc002uhw.3_Missense_Mutation_p.Q837E	p.Q981E	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		31	3128	+			981			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2941C>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	3.310	-0.141083	0.06669	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.06	6.06	0.98353	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.183007	0.49305	D	0.000145	T	0.16085	0.0387	N	0.04132	-0.27	0.47374	D	0.999409	B;B	0.20988	0.05;0.014	B;B	0.18561	0.022;0.017	T	0.15407	-1.0438	10	0.02654	T	1	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	837;981	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	E	980;981;913;837;810;828;828;761	ENSP00000264111:Q980E;ENSP00000380271:Q981E;ENSP00000387104:Q913E;ENSP00000380276:Q837E;ENSP00000440135:Q810E;ENSP00000440250:Q828E;ENSP00000437384:Q828E;ENSP00000438011:Q761E	ENSP00000264111:Q980E	Q	+	1	0	RAPGEF4	173624646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	2.882000	0.98803	0.655000	0.94253	CAG		0.388	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		5	66	0	0	0	0.001984	0	5	66				
ATF2	1386	broad.mit.edu	37	2	175986270	175986270	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:175986270T>A	ENST00000264110.2	-	5	401		c.e5-2		ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000345739.5_Intron|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_Splice_Site	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	GGTAAAACGCTGTGGCAAAAA	0.333																																					Pancreas(17;87 705 4534 15538 30988)	Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2		NA																	1	Unknown(1)		lung(1)	lung(1)|breast(1)|pancreas(1)	3						c.e5-1		activating transcription factor 2							70.0	70.0	70.0					2																	175986270		2202	4299	6501	SO:0001630	splice_region_variant	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175986270T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.103-2A>T	2.37:g.175986270T>A						ATF2_uc010fqv.2_Splice_Site_p.A9_splice|ATF2_uc002ujv.2_Splice_Site|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_Splice_Site|ATF2_uc002ujq.2_Splice_Site_p.R35_splice|ATF2_uc002ujr.2_Splice_Site|ATF2_uc010fqu.2_Splice_Site_p.R17_splice|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_Splice_Site|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_Splice_Site|ATF2_uc002ujy.1_Splice_Site_p.R35_splice	p.R35_splice	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		5	365	-								A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Splice_Site	SNP	ENST00000264110.2	37	c.103_splice	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275669	0.80580	.	.	ENSG00000115966	ENST00000264110;ENST00000542046;ENST00000409437;ENST00000435004;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000409833	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5615	0.76253	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATF2	175694516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.073000	0.62155	0.482000	0.46254	.		0.333	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	Intron	8	37	0	0	0	0.004482	0	8	37				
HOXD3	3232	broad.mit.edu	37	2	177036982	177036982	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:177036982C>T	ENST00000468418.3	+	4	3369	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	HOXD3_ENST00000249440.3_Missense_Mutation_p.P427S|HOXD3_ENST00000410016.1_Missense_Mutation_p.P427S|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	427					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P427S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCGGAGGCTCCCAAACTGAC	0.637																																							uc002ukt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)CCC>TCC		homeobox D3							31.0	37.0	35.0					2																	177036982		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036982C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1279C>T	2.37:g.177036982C>T	ENSP00000424734:p.Pro427Ser						p.P427S	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	1455	+			427					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1279C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283677	0.80803	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.93019	-3.15;-3.15;-3.15	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.95784	0.8628	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95859	0.8881	10	0.62326	D	0.03	.	19.3191	0.94231	0.0:1.0:0.0:0.0	.	427	P31249	HXD3_HUMAN	S	427	ENSP00000424734:P427S;ENSP00000386498:P427S;ENSP00000249440:P427S	ENSP00000249440:P427S	P	+	1	0	HOXD3	176745228	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.060000	0.71141	2.576000	0.86940	0.491000	0.48974	CCC		0.637	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	48	0	0	0	0.001984	0	6	48				
AGPS	8540	broad.mit.edu	37	2	178305762	178305762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:178305762G>T	ENST00000264167.4	+	6	853	c.707G>T	c.(706-708)gGt>gTt	p.G236V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	236	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.G236V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATACCAATTGGTGGTAGGTAT	0.269																																							uc002ull.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(706-708)GGT>GTT		alkyldihydroxyacetone phosphate synthase							136.0	134.0	135.0					2																	178305762		2202	4299	6501	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178305762G>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.707G>T	2.37:g.178305762G>T	ENSP00000264167:p.Gly236Val					AGPS_uc010zfb.1_Missense_Mutation_p.G146V	p.G236V	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		6	754	+			236			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.707G>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628958	0.87560	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.98901	-5.22	5.59	5.59	0.84812	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99834	4.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97145	0.9827	10	0.87932	D	0	.	19.6411	0.95758	0.0:0.0:1.0:0.0	.	236	O00116	ADAS_HUMAN	V	236;106	ENSP00000264167:G236V	ENSP00000264167:G236V	G	+	2	0	AGPS	178014008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.838000	0.86804	2.655000	0.90218	0.650000	0.86243	GGT		0.269	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			10	64	1	0	0.000673444	0.008291	0.000736708	10	64				
TTN	7273	broad.mit.edu	37	2	179403316	179403316	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179403316C>T	ENST00000591111.1	-	304	94541	c.94317G>A	c.(94315-94317)ggG>ggA	p.G31439G	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000342175.6_Silent_p.G24207G|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.G24140G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.G24015G|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.G33080G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.G30512G			Q8WZ42	TITIN_HUMAN	titin	31439	Fibronectin type-III 129. {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.G24207G(1)|p.G30510G(1)|p.G30512G(1)|p.G24140G(1)|p.G24015G(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)			GTCTGCTCAGCCCAGTCTCAT	0.393																																							uc010zfg.1		NA																	5	Substitution - coding silent(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.(91534-91536)GGG>GGA		titin isoform N2-A							118.0	116.0	116.0					2																	179403316		1913	4145	6058	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403316C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94317G>A	2.37:g.179403316C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G24207G|TTN_uc010zfi.1_Silent_p.G24140G|TTN_uc010zfj.1_Silent_p.G24015G	p.G30512G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	91760	-			31439					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	Silent	SNP	ENST00000591111.1	37	c.91536G>A																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	127	0	0	0	0.003954	0	26	127				
TTN	7273	broad.mit.edu	37	2	179435496	179435496	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179435496G>T	ENST00000591111.1	-	276	70664	c.70440C>A	c.(70438-70440)atC>atA	p.I23480I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I16248I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I16181I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.I16056I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.I25121I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I22553I			Q8WZ42	TITIN_HUMAN	titin	23480	Ig-like 119.				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.I22553I(1)|p.I16181I(1)|p.I16248I(1)|p.I16056I(1)|p.I22551I(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)			CATGAACCACGATTGTGTCTT	0.408																																							uc010zfg.1		NA																	5	Substitution - coding silent(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.(67657-67659)ATC>ATA		titin isoform N2-A							286.0	255.0	265.0					2																	179435496		1961	4155	6116	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435496G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70440C>A	2.37:g.179435496G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I16248I|TTN_uc010zfi.1_Silent_p.I16181I|TTN_uc010zfj.1_Silent_p.I16056I	p.I22553I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67883	-			23480					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	Silent	SNP	ENST00000591111.1	37	c.67659C>A																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	193	1	0	1.26454e-06	0.005443	1.57408e-06	27	193				
TTN	7273	broad.mit.edu	37	2	179468758	179468758	+	Missense_Mutation	SNP	G	G	T	rs546735795		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179468758G>T	ENST00000591111.1	-	232	49957	c.49733C>A	c.(49732-49734)gCa>gAa	p.A16578E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9346E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9279E|TTN_ENST00000460472.2_Missense_Mutation_p.A9154E|TTN_ENST00000589042.1_Missense_Mutation_p.A18219E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15651E			Q8WZ42	TITIN_HUMAN	titin	16578	Fibronectin type-III 20. {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.A15651E(2)|p.A9279E(1)|p.A9346E(1)|p.A9154E(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)			GGTTATTGGTGCTCGGCTAAC	0.468																																							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.(46951-46953)GCA>GAA		titin isoform N2-A							275.0	268.0	270.0					2																	179468758		1902	4133	6035	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468758G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49733C>A	2.37:g.179468758G>T	ENSP00000465570:p.Ala16578Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A9346E|TTN_uc010zfi.1_Missense_Mutation_p.A9279E|TTN_uc010zfj.1_Missense_Mutation_p.A9154E	p.A15651E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47176	-			16578					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.46952C>A		.	.	.	.	.	.	.	.	.	.	G	13.51	2.257607	0.39896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.11;0.08;0.08	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68805	0.3041	N	0.25201	0.72	0.48571	D	0.999678	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.61658	0.856;0.856;0.856;0.892	T	0.70781	-0.4779	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	9154;9279;9346;16578	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	15651;9154;9346;9279;9154	ENSP00000343764:A15651E;ENSP00000434586:A9154E;ENSP00000340554:A9346E;ENSP00000352154:A9279E	ENSP00000340554:A9346E	A	-	2	0	TTN	179177003	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.732000	0.62029	2.937000	0.99478	0.650000	0.86243	GCA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	362	1	0	2.47511e-08	0.008361	3.33174e-08	25	362				
TTN	7273	broad.mit.edu	37	2	179479056	179479056	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179479056A>T	ENST00000591111.1	-	212	44369	c.44145T>A	c.(44143-44145)gcT>gcA	p.A14715A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A7483A|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A7416A|TTN_ENST00000460472.2_Silent_p.A7291A|TTN_ENST00000589042.1_Silent_p.A16356A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.A13788A			Q8WZ42	TITIN_HUMAN	titin	14715	Fibronectin type-III 6. {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.A13788A(2)|p.A7416A(1)|p.A7483A(1)|p.A7291A(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)			TGTCAAAGGCAGCTGGTGGTC	0.383																																							uc010zfg.1		NA																	5	Substitution - coding silent(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.(41362-41364)GCT>GCA		titin isoform N2-A							83.0	77.0	79.0					2																	179479056		1941	4139	6080	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479056A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44145T>A	2.37:g.179479056A>T						uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.A7483A|TTN_uc010zfi.1_Silent_p.A7416A|TTN_uc010zfj.1_Silent_p.A7291A	p.A13788A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		211	41588	-			14715					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	Silent	SNP	ENST00000591111.1	37	c.41364T>A																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	72	0	0	0	0.010504	0	20	72				
TTN	7273	broad.mit.edu	37	2	179590276	179590276	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179590276G>T	ENST00000591111.1	-	69	19928	c.19704C>A	c.(19702-19704)gtC>gtA	p.V6568V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V6885V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V5641V			Q8WZ42	TITIN_HUMAN	titin	12170	Ig-like 47.				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.V5641V(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)			TAAGCCACTGGACAAAAATAG	0.433																																							uc010zfg.1		NA																	1	Substitution - coding silent(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.(16921-16923)GTC>GTA		titin isoform N2-A							108.0	98.0	101.0					2																	179590276		1845	4106	5951	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590276G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19704C>A	2.37:g.179590276G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V2302V	p.V5641V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17147	-			6568					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	Silent	SNP	ENST00000591111.1	37	c.16923C>A																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	77	1	0	0.00448238	0.004482	0.00475543	8	77				
TTN	7273	broad.mit.edu	37	2	179596304	179596304	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179596304G>A	ENST00000591111.1	-	57	16462	c.16238C>T	c.(16237-16239)cCa>cTa	p.P5413L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P5730L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4486L			Q8WZ42	TITIN_HUMAN	titin	12231	Ig-like 35.				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.P4486L(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)			TATGAAGGATGGGGGTTCTAA	0.463																																							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.(13456-13458)CCA>CTA		titin isoform N2-A							36.0	36.0	36.0					2																	179596304		1854	4093	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596304G>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.16238C>T	2.37:g.179596304G>A	ENSP00000465570:p.Pro5413Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1147L	p.P4486L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13681	-			5413					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.13457C>T		.	.	.	.	.	.	.	.	.	.	G	11.36	1.614938	0.28712	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85944	0.5815	M	0.90252	3.1	0.80722	D	1	P	0.38617	0.64	B	0.38378	0.272	D	0.88443	0.3043	9	0.87932	D	0	.	19.5963	0.95541	0.0:0.0:1.0:0.0	.	5413	Q8WZ42	TITIN_HUMAN	L	4486	ENSP00000343764:P4486L	ENSP00000343764:P4486L	P	-	2	0	TTN	179304549	1.000000	0.71417	0.930000	0.37139	0.946000	0.59487	9.869000	0.99810	2.648000	0.89879	0.561000	0.74099	CCA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	39	0	0	0	0.001168	0	6	39				
TTN	7273	broad.mit.edu	37	2	179598427	179598427	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179598427A>G	ENST00000591111.1	-	51	14962	c.14738T>C	c.(14737-14739)gTt>gCt	p.V4913A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V5230A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V3986A			Q8WZ42	TITIN_HUMAN	titin	12305	Ig-like 29.				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.V3986A(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)			ACTAATCTGAACATCAGGGAT	0.403																																							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.(11956-11958)GTT>GCT		titin isoform N2-A							169.0	161.0	164.0					2																	179598427		1873	4110	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598427A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14738T>C	2.37:g.179598427A>G	ENSP00000465570:p.Val4913Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V647A	p.V3986A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12181	-			4913					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.11957T>C		.	.	.	.	.	.	.	.	.	.	A	14.22	2.471627	0.43942	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66336	0.2779	N	0.17872	0.535	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	T	0.71794	-0.4485	9	0.87932	D	0	.	16.1328	0.81454	1.0:0.0:0.0:0.0	.	4913	Q8WZ42	TITIN_HUMAN	A	3986	ENSP00000343764:V3986A	ENSP00000343764:V3986A	V	-	2	0	TTN	179306672	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	173	0	0	0	0.00632	0	29	173				
TTN	7273	broad.mit.edu	37	2	179605626	179605626	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179605626G>C	ENST00000591111.1	-	46	11607	c.11383C>G	c.(11383-11385)Cag>Gag	p.Q3795E	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q3941E|TTN_ENST00000359218.5_Missense_Mutation_p.Q3874E|TTN_ENST00000460472.2_Missense_Mutation_p.Q3749E|TTN_ENST00000589042.1_Missense_Mutation_p.Q4112E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	33967					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.Q3874E(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)			TGCAATTCCTGAGCTCCCAAA	0.413																																							uc010zfh.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.(11821-11823)CAG>GAG		titin isoform novex-2							119.0	114.0	116.0					2																	179605626		1892	4107	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605626G>C	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.11383C>G	2.37:g.179605626G>C	ENSP00000465570:p.Gln3795Glu					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.Q3874E|TTN_uc010zfj.1_Missense_Mutation_p.Q3749E|TTN_uc002umz.1_Intron	p.Q3941E	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12045	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.11821C>G		.	.	.	.	.	.	.	.	.	.	G	11.33	1.605499	0.28623	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.57107	0.44;0.42;0.42	4.69	3.81	0.43845	.	.	.	.	.	T	0.35740	0.0942	N	0.11560	0.145	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	0.35325	-0.9793	9	0.87932	D	0	.	13.028	0.58827	0.0:0.1983:0.8017:0.0	.	3749;3874;3941	D3DPF9;E7EQE6;E7ET18	.;.;.	E	3749;3941;3874;3749	ENSP00000434586:Q3749E;ENSP00000340554:Q3941E;ENSP00000352154:Q3874E	ENSP00000340554:Q3941E	Q	-	1	0	TTN	179313871	0.010000	0.17322	0.067000	0.19924	0.382000	0.30200	1.083000	0.30815	1.329000	0.45376	0.655000	0.94253	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	95	0	0	0	0.00278	0	24	95				
TTN	7273	broad.mit.edu	37	2	179615422	179615422	+	Intron	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179615422T>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.K3902M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATCATCCTTTTTTATTCT	0.328																																							uc002unb.2		NA																	0				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.(11704-11706)AAG>ATG		titin isoform novex-3							63.0	65.0	64.0					2																	179615422		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615422T>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.10360+2428A>T	2.37:g.179615422T>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.K3902M	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11929	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.11705A>T		.	.	.	.	.	.	.	.	.	.	T	21.4	4.145953	0.77888	.	.	ENSG00000155657	ENST00000360870	T	0.58506	0.33	5.55	4.37	0.52481	.	.	.	.	.	T	0.38161	0.1030	N	0.14661	0.345	0.41614	D	0.988923	B	0.19706	0.038	B	0.18561	0.022	T	0.14783	-1.0460	9	0.32370	T	0.25	.	9.7832	0.40660	0.1631:0.0:0.0:0.8369	.	3902	Q8WZ42-6	.	M	3902	ENSP00000354117:K3902M	ENSP00000354117:K3902M	K	-	2	0	TTN	179323667	0.000000	0.05858	0.005000	0.12908	0.626000	0.37791	0.009000	0.13219	1.010000	0.39314	0.533000	0.62120	AAG		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	39	0	0	0	0.000602	0	4	39				
TTN	7273	broad.mit.edu	37	2	179633572	179633572	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179633572G>T	ENST00000591111.1	-	38	9215	c.8991C>A	c.(8989-8991)atC>atA	p.I2997I	TTN_ENST00000360870.5_Silent_p.I2997I|TTN_ENST00000342175.6_Silent_p.I2951I|TTN_ENST00000359218.5_Silent_p.I2951I|TTN_ENST00000460472.2_Silent_p.I2951I|TTN_ENST00000589042.1_Silent_p.I2997I|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I2997I			Q8WZ42	TITIN_HUMAN	titin	13329	Ig-like 17.				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.I2951I(3)|p.I2997I(3)		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)			ATTTGTAAGAGATGCCTTCAT	0.393																																							uc010zfg.1		NA																	6	Substitution - coding silent(6)		lung(6)	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.(8989-8991)ATC>ATA		titin isoform N2-A							175.0	158.0	163.0					2																	179633572		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633572G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8991C>A	2.37:g.179633572G>T						TTN_uc010zfh.1_Silent_p.I2951I|TTN_uc010zfi.1_Silent_p.I2951I|TTN_uc010zfj.1_Silent_p.I2951I|TTN_uc002unb.2_Silent_p.I2997I	p.I2997I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9215	-			2997					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	Silent	SNP	ENST00000591111.1	37	c.8991C>A																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	64	1	0	2.27111e-07	0.001368	2.92893e-07	11	64				
TTN	7273	broad.mit.edu	37	2	179648929	179648929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179648929G>T	ENST00000591111.1	-	16	2867	c.2643C>A	c.(2641-2643)ttC>ttA	p.F881L	TTN_ENST00000360870.5_Missense_Mutation_p.F881L|TTN_ENST00000342175.6_Missense_Mutation_p.F835L|TTN_ENST00000359218.5_Missense_Mutation_p.F835L|TTN_ENST00000460472.2_Missense_Mutation_p.F835L|TTN_ENST00000589042.1_Missense_Mutation_p.F881L|TTN_ENST00000342992.6_Missense_Mutation_p.F881L			Q8WZ42	TITIN_HUMAN	titin	33703					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.F835L(3)|p.F881L(3)		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)			CAGCGAAGGGGAACTGTGGCA	0.537																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	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.(2641-2643)TTC>TTA		titin isoform N2-A							137.0	117.0	124.0					2																	179648929		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648929G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2643C>A	2.37:g.179648929G>T	ENSP00000465570:p.Phe881Leu					TTN_uc010zfh.1_Missense_Mutation_p.F835L|TTN_uc010zfi.1_Missense_Mutation_p.F835L|TTN_uc010zfj.1_Missense_Mutation_p.F835L|TTN_uc002unb.2_Missense_Mutation_p.F881L	p.F881L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2867	-			881					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.2643C>A		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958825	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62105	0.05;0.3;0.3;0.29;0.34	5.52	3.3	0.37823	Ribonuclease H-like (1);	.	.	.	.	T	0.55784	0.1942	N	0.17082	0.46	0.23331	N	0.997898	P;P;P;P;D	0.60575	0.688;0.688;0.688;0.817;0.988	B;B;B;B;P	0.53062	0.237;0.237;0.237;0.237;0.717	T	0.47724	-0.9095	9	0.87932	D	0	.	9.6602	0.39950	0.2768:0.0:0.7232:0.0	.	835;835;835;881;881	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	881;835;835;835;835;881	ENSP00000343764:F881L;ENSP00000434586:F835L;ENSP00000340554:F835L;ENSP00000352154:F835L;ENSP00000354117:F881L	ENSP00000340554:F835L	F	-	3	2	TTN	179357174	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	0.706000	0.25690	0.563000	0.29222	0.655000	0.94253	TTC		0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	115	1	0	2.98393e-07	0.00278	3.83565e-07	22	115				
ITGA4	3676	broad.mit.edu	37	2	182389954	182389954	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:182389954C>A	ENST00000397033.2	+	21	2705	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	759					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.L759I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AATGGACAATCTAAAGCACAG	0.363																																							uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2275-2277)CTA>ATA		integrin alpha 4 precursor	Natalizumab(DB00108)						125.0	117.0	119.0					2																	182389954		1852	4106	5958	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182389954C>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2275C>A	2.37:g.182389954C>A	ENSP00000380227:p.Leu759Ile					ITGA4_uc010frj.1_Missense_Mutation_p.L241I|ITGA4_uc002unv.2_Missense_Mutation_p.L4I	p.L759I	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		21	3038	+			759			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2275C>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	7.469	0.646272	0.14451	.	.	ENSG00000115232	ENST00000397033	T	0.52983	0.64	6.16	0.714	0.18180	Integrin alpha-2 (1);	0.426054	0.25671	N	0.029065	T	0.28001	0.0690	L	0.31065	0.9	0.09310	N	1	B;B	0.22683	0.018;0.073	B;B	0.25987	0.065;0.065	T	0.09729	-1.0661	10	0.27785	T	0.31	.	2.5183	0.04674	0.2096:0.2915:0.3525:0.1464	.	581;759	Q59H74;P13612	.;ITA4_HUMAN	I	759	ENSP00000380227:L759I	ENSP00000380227:L759I	L	+	1	2	ITGA4	182098199	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.259000	0.08721	0.101000	0.17610	0.650000	0.86243	CTA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			12	49	1	0	6.40141e-05	0.000978	7.35004e-05	12	49				
ZNF804A	91752	broad.mit.edu	37	2	185800875	185800875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:185800875G>T	ENST00000302277.6	+	4	1346	c.752G>T	c.(751-753)aGa>aTa	p.R251I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	251							metal ion binding (GO:0046872)	p.R251I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAAAGTAGATTTGTCCCC	0.438																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(751-753)AGA>ATA		zinc finger protein 804A							97.0	92.0	94.0					2																	185800875		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800875G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.752G>T	2.37:g.185800875G>T	ENSP00000303252:p.Arg251Ile						p.R251I	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1346	+			251					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.752G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570527	0.86542	.	.	ENSG00000170396	ENST00000302277	T	0.11604	2.76	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.31857	0.0810	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01256	-1.1404	10	0.87932	D	0	-10.3444	18.1981	0.89829	0.0:0.0:1.0:0.0	.	251	Q7Z570	Z804A_HUMAN	I	251	ENSP00000303252:R251I	ENSP00000303252:R251I	R	+	2	0	ZNF804A	185509120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.065000	0.64344	2.532000	0.85374	0.591000	0.81541	AGA		0.438	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		27	143	1	0	6.38683e-12	0.008361	9.78916e-12	27	143				
ZNF804A	91752	broad.mit.edu	37	2	185803359	185803359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:185803359C>A	ENST00000302277.6	+	4	3830	c.3236C>A	c.(3235-3237)aCa>aAa	p.T1079K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1079							metal ion binding (GO:0046872)	p.T1079K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCCCTAGCACACCTCTGCAG	0.517																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3235-3237)ACA>AAA		zinc finger protein 804A							92.0	88.0	89.0					2																	185803359		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803359C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3236C>A	2.37:g.185803359C>A	ENSP00000303252:p.Thr1079Lys						p.T1079K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3830	+			1079					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3236C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555449	0.27739	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	5.07	5.07	0.68467	.	0.628220	0.13252	N	0.401979	T	0.10294	0.0252	L	0.44542	1.39	0.22050	N	0.999395	P	0.40476	0.718	B	0.39379	0.298	T	0.16070	-1.0415	10	0.49607	T	0.09	-1.6129	12.8486	0.57844	0.0:0.8357:0.1643:0.0	.	1079	Q7Z570	Z804A_HUMAN	K	1079	ENSP00000303252:T1079K	ENSP00000303252:T1079K	T	+	2	0	ZNF804A	185511604	0.512000	0.26186	0.101000	0.21167	0.554000	0.35429	3.558000	0.53749	2.344000	0.79699	0.313000	0.20887	ACA		0.517	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		17	214	1	0	1.99824e-07	0.00499	2.59231e-07	17	214				
FAM171B	165215	broad.mit.edu	37	2	187608278	187608278	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187608278G>T	ENST00000304698.5	+	3	744	c.541G>T	c.(541-543)Gtt>Ttt	p.V181F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	181						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.V181F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAAGACACTGTTTTAATTAC	0.313																																							uc002ups.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(541-543)GTT>TTT		KIAA1946							99.0	102.0	101.0					2																	187608278		2203	4297	6500	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187608278G>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.541G>T	2.37:g.187608278G>T	ENSP00000304108:p.Val181Phe					FAM171B_uc002upr.1_Missense_Mutation_p.V181F	p.V181F	NM_177454	NP_803237	Q6P995	F171B_HUMAN			3	653	+			181			Extracellular (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.541G>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213898	0.79352	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.46451	0.87	6.02	5.14	0.70334	.	0.127629	0.52532	D	0.000062	T	0.49643	0.1569	M	0.70595	2.14	0.53688	D	0.999978	P;P	0.45672	0.864;0.864	P;P	0.47528	0.549;0.549	T	0.55075	-0.8197	10	0.87932	D	0	-14.2566	10.7159	0.46013	0.145:0.0:0.855:0.0	.	181;182	Q6P995;A8K122	F171B_HUMAN;.	F	181	ENSP00000304108:V181F	ENSP00000272804:V181F	V	+	1	0	FAM171B	187316523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.621000	0.61233	1.562000	0.49601	0.650000	0.86243	GTT		0.313	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		4	61	1	0	0.00909568	0.009096	0.00951132	4	61				
ZSWIM2	151112	broad.mit.edu	37	2	187702135	187702135	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187702135G>T	ENST00000295131.2	-	5	680	c.641C>A	c.(640-642)tCt>tAt	p.S214Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	214					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S214Y(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGTTTGCTAGAGTTTTTGAA	0.393																																							uc002upu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(640-642)TCT>TAT		zinc finger, SWIM domain containing 2							121.0	117.0	119.0					2																	187702135		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702135G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.641C>A	2.37:g.187702135G>T	ENSP00000295131:p.Ser214Tyr						p.S214Y	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	681	-			214					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.641C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514948	0.44763	.	.	ENSG00000163012	ENST00000295131	D	0.87571	-2.27	5.97	5.97	0.96955	.	0.000000	0.52532	D	0.000075	D	0.87881	0.6289	M	0.67953	2.075	0.35930	D	0.832455	D	0.53885	0.963	P	0.46585	0.521	D	0.91708	0.5379	10	0.87932	D	0	-12.7497	13.5194	0.61559	0.0:0.1561:0.8439:0.0	.	214	Q8NEG5	ZSWM2_HUMAN	Y	214	ENSP00000295131:S214Y	ENSP00000295131:S214Y	S	-	2	0	ZSWIM2	187410380	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	5.335000	0.65929	2.835000	0.97688	0.591000	0.81541	TCT		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		8	94	1	0	0.00307968	0.00308	0.00327966	8	94				
WDR75	84128	broad.mit.edu	37	2	190323581	190323582	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190323581_190323582TG>AT	ENST00000314761.4	+	7	732_733	c.672_673TG>AT	c.(670-675)gaTGgc>gaATgc	p.224_225DG>EC		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	224						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D224_G225>EC(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTCACATGGATGGCAAAATTCG	0.406																																							uc002uql.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)	2						c.(670-675)GATGGC>GAATGC		WD repeat domain 75																																				SO:0001583	missense	84128					nucleolus		g.chr2:190323581_190323582TG>AT	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	Exception_encountered	2.37:g.190323581_190323582delinsAT	ENSP00000314193:p.D224_G225delinsEC					WDR75_uc002uqm.1_Missense_Mutation_p.160_161DG>EC|WDR75_uc002uqn.1_Missense_Mutation_p.2_3DG>EC|WDR75_uc002uqo.1_Missense_Mutation_p.2_3DG>EC	p.224_225DG>EC	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		7	732_733	+			224_225			WD 3.		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	DNP	ENST00000314761.4	37	c.672_673TG>AT	CCDS2298.1																																																																																				0.406	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		27	159	0	0	0	0.004672	0	27	159				
ANKAR	150709	broad.mit.edu	37	2	190554279	190554279	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190554279G>T	ENST00000520309.1	+	3	716	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	ANKAR_ENST00000438402.2_Missense_Mutation_p.D210Y|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.D139Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D210Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	210						integral component of membrane (GO:0016021)		p.D139Y(1)|p.D210Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAAGGATCCAGACTTTAATGA	0.308																																							uc002uqw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(415-417)GAC>TAC		ankyrin and armadillo repeat containing							80.0	89.0	86.0					2																	190554279		2203	4297	6500	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554279G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.628G>T	2.37:g.190554279G>T	ENSP00000427882:p.Asp210Tyr					ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.D210Y	p.D139Y	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	415	+			210					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.415G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730997	0.69074	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.51574	0.73;0.73;0.7;0.73	5.97	5.97	0.96955	.	0.386837	0.23084	N	0.052115	T	0.65004	0.2650	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.64343	-0.6430	10	0.72032	D	0.01	-0.1544	19.2102	0.93751	0.0:0.0:1.0:0.0	.	210	Q7Z5J8	ANKAR_HUMAN	Y	210;210;210;139	ENSP00000427882:D210Y;ENSP00000313513:D210Y;ENSP00000397243:D210Y;ENSP00000393043:D139Y	ENSP00000313513:D210Y	D	+	1	0	ANKAR	190262524	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.688000	0.61715	2.836000	0.97738	0.655000	0.94253	GAC		0.308	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		12	86	1	0	2.27111e-07	0.001368	2.92893e-07	12	86				
PMS1	5378	broad.mit.edu	37	2	190660675	190660675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190660675G>T	ENST00000441310.2	+	3	546	c.313G>T	c.(313-315)Gag>Tag	p.E105*	PMS1_ENST00000409823.3_Nonsense_Mutation_p.E105*|PMS1_ENST00000409985.1_Nonsense_Mutation_p.E105*|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Nonsense_Mutation_p.E105*|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000447232.2_Nonsense_Mutation_p.E105*|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	105					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.E105*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATAGCTGAGGTAAGGTA	0.313			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															uc002urh.3		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(313-315)GAG>TAG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							100.0	98.0	99.0					2																	190660675		2203	4300	6503	SO:0001587	stop_gained	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660675G>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.313G>T	2.37:g.190660675G>T	ENSP00000406490:p.Glu105*					PMS1_uc010zga.1_Nonsense_Mutation_p.E105*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Nonsense_Mutation_p.E105*|PMS1_uc002uri.3_Nonsense_Mutation_p.E105*|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Nonsense_Mutation_p.E105*|PMS1_uc010frz.2_Nonsense_Mutation_p.E105*|PMS1_uc010zfz.1_Nonsense_Mutation_p.E105*	p.E105*	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		3	842	+			105					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	ENST00000441310.2	37	c.313G>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257779	0.97417	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232	.	.	.	5.93	5.93	0.95920	.	0.043313	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.2003	20.3404	0.98760	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000343888:E105X	E	+	1	0	PMS1	190368920	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.814000	0.99346	2.812000	0.96745	0.637000	0.83480	GAG		0.313	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			17	110	1	0	3.51602e-12	0.008871	5.4356e-12	17	110				
STAT4	6775	broad.mit.edu	37	2	191941029	191941029	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:191941029A>G	ENST00000392320.2	-	4	610	c.296T>C	c.(295-297)aTg>aCg	p.M99T	STAT4_ENST00000358470.4_Missense_Mutation_p.M99T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	99					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.M99T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGCTACATGCATTGGATTTCC	0.343																																							uc002usm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(295-297)ATG>ACG		signal transducer and activator of transcription							100.0	103.0	102.0					2																	191941029		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191941029A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.296T>C	2.37:g.191941029A>G	ENSP00000376134:p.Met99Thr					STAT4_uc002usn.1_Missense_Mutation_p.M99T|STAT4_uc002uso.2_Missense_Mutation_p.M99T|STAT4_uc002usp.3_Missense_Mutation_p.M99T	p.M99T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		4	550	-			99					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.296T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401183	0.25291	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.51071	0.72;0.72;0.72	5.58	4.42	0.53409	STAT transcription factor, protein interaction (4);	0.356432	0.32459	N	0.006071	T	0.25419	0.0618	N	0.08118	0	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.002	T	0.08932	-1.0698	10	0.20519	T	0.43	-27.3058	10.3459	0.43906	0.9213:0.0:0.0787:0.0	.	99;99;99	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	T	99;99;72	ENSP00000351255:M99T;ENSP00000376134:M99T;ENSP00000403238:M72T	ENSP00000351255:M99T	M	-	2	0	STAT4	191649274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.585000	0.60977	2.248000	0.74166	0.528000	0.53228	ATG		0.343	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	102	0	0	0	0.000978	0	10	102				
MYO1B	4430	broad.mit.edu	37	2	192194697	192194697	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:192194697A>T	ENST00000392318.3	+	4	535	c.288A>T	c.(286-288)cgA>cgT	p.R96R	MYO1B_ENST00000304164.4_Silent_p.R96R|MYO1B_ENST00000392316.1_Silent_p.R96R|MYO1B_ENST00000339514.4_Silent_p.R96R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	96	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R96R(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GATCCCTACGAGATCAAGATA	0.423																																							uc010fsg.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(286-288)CGA>CGT		myosin IB isoform 1							212.0	208.0	210.0					2																	192194697		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192194697A>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.288A>T	2.37:g.192194697A>T						MYO1B_uc002usq.2_Silent_p.R96R|MYO1B_uc002usr.2_Silent_p.R96R|MYO1B_uc002uss.1_Silent_p.R96R	p.R96R	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		4	543	+			96			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.288A>T	CCDS46477.1																																																																																				0.423	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		29	310	0	0	0	0.002445	0	29	310				
CCDC150	284992	broad.mit.edu	37	2	197541345	197541345	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:197541345G>C	ENST00000389175.4	+	12	1465	c.1330G>C	c.(1330-1332)Gtg>Ctg	p.V444L	CCDC150_ENST00000423093.2_Missense_Mutation_p.V112L|CCDC150_ENST00000272831.7_Missense_Mutation_p.V112L|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	444								p.V444L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACAGCTGTGCAAAAAGA	0.408																																							uc002utp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)GTG>CTG		coiled-coil domain containing 150							89.0	85.0	86.0					2																	197541345		1864	4126	5990	SO:0001583	missense	284992							g.chr2:197541345G>C		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1330G>C	2.37:g.197541345G>C	ENSP00000373827:p.Val444Leu					CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Missense_Mutation_p.V112L	p.V444L	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			12	1465	+			444			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1330G>C	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	1.973	-0.436024	0.04636	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.46063	0.88	5.22	-2.95	0.05564	.	2.314170	0.01914	N	0.040030	T	0.30510	0.0767	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.10660	-1.0620	10	0.32370	T	0.25	4.0739	4.5216	0.11962	0.4097:0.0:0.323:0.2673	.	112;444	B4DZ03;Q8NCX0	.;CC150_HUMAN	L	112;444;112	ENSP00000373827:V444L	ENSP00000272831:V112L	V	+	1	0	CCDC150	197249590	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.119000	0.15626	-0.441000	0.07201	0.563000	0.77884	GTG		0.408	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		16	39	0	0	0	0.003163	0	16	39				
PLCL1	5334	broad.mit.edu	37	2	198950911	198950912	+	Missense_Mutation	DNP	GG	GG	TT	rs572725072		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:198950911_198950912GG>TT	ENST00000428675.1	+	2	3068_3069	c.2670_2671GG>TT	c.(2668-2673)gcGGtt>gcTTtt	p.V891F	PLCL1_ENST00000437704.2_Missense_Mutation_p.V793F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	891					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.V793F(1)|p.V891F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTAAAATAGCGGTTCATCCATT	0.416																																							uc010fsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2668-2673)GCGGTT>GCTTTT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)																																			SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950911_198950912GG>TT	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	Exception_encountered	2.37:g.198950911_198950912delinsTT	ENSP00000402861:p.Val891Phe					PLCL1_uc002uuv.3_Missense_Mutation_p.V812F	p.V891F	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2961_2962	+			891					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	DNP	ENST00000428675.1	37	c.2670_2671GG>TT	CCDS2326.2																																																																																				0.416	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	30	0	0	0	0.004672	0	4	30				
SATB2	23314	broad.mit.edu	37	2	200173681	200173681	+	Splice_Site	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:200173681C>G	ENST00000417098.1	-	10	2359		c.e10-1		SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000443023.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2						cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACAGCCAGCCCTGTAGAGAGA	0.557																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e10-1		SATB homeobox 2							45.0	41.0	42.0					2																	200173681		2203	4300	6503	SO:0001630	splice_region_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173681C>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1543-1G>C	2.37:g.200173681C>G						SATB2_uc010fsq.1_Splice_Site_p.G397_splice|SATB2_uc002uuz.1_Splice_Site_p.G515_splice|SATB2_uc002uva.1_Splice_Site_p.G515_splice	p.G515_splice	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2360	-								A8K5Z8|Q3ZB87|Q4V763	Splice_Site	SNP	ENST00000417098.1	37	c.1543_splice	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540673	0.85917	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.314	0.94204	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SATB2	199881926	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.609000	0.82925	2.873000	0.98535	0.561000	0.74099	.		0.557	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	Intron	4	37	0	0	0	0.000602	0	4	37				
SGOL2	151246	broad.mit.edu	37	2	201448175	201448175	+	Silent	SNP	G	G	A	rs191594144		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:201448175G>A	ENST00000357799.4	+	9	3884	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K	AOX1_ENST00000374700.2_5'Flank	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1262					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K1262K(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGCAGCAAGATGAGAAGAT	0.299																																							uc002uvw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(3784-3786)AAG>AAA		shugoshin-like 2 isoform 1							153.0	138.0	143.0					2																	201448175		1807	4054	5861	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201448175G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3786G>A	2.37:g.201448175G>A						AOX1_uc002uvx.2_5'Flank|SGOL2_uc010zhe.1_Missense_Mutation_p.R1260K	p.K1262K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			9	3899	+			1262					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.3786G>A	CCDS42796.1																																																																																				0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		9	68	0	0	0	0.006214	0	9	68				
NRP2	8828	broad.mit.edu	37	2	206617571	206617571	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:206617571A>T	ENST00000357785.5	+	12	1947	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	NRP2_ENST00000272849.3_Missense_Mutation_p.Q639L|NRP2_ENST00000357118.4_Missense_Mutation_p.Q639L|NRP2_ENST00000540841.1_Missense_Mutation_p.Q639L|NRP2_ENST00000540178.1_Missense_Mutation_p.Q639L|NRP2_ENST00000360409.3_Missense_Mutation_p.Q639L|NRP2_ENST00000412873.2_Missense_Mutation_p.Q639L			Q99435	NELL2_HUMAN	neuropilin 2	629	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q639L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AAAGATTTGCAGCTCCCTTCG	0.493																																							uc002vaw.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1915-1917)CAG>CTG		neuropilin 2 isoform 1 precursor							64.0	60.0	61.0					2																	206617571		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206617571A>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1916A>T	2.37:g.206617571A>T	ENSP00000350432:p.Gln639Leu					NRP2_uc002vau.2_Missense_Mutation_p.Q639L|NRP2_uc002vav.2_Missense_Mutation_p.Q639L|NRP2_uc002vax.2_Missense_Mutation_p.Q639L|NRP2_uc002vay.2_Missense_Mutation_p.Q639L	p.Q639L	NM_201266	NP_957718	O60462	NRP2_HUMAN			12	2707	+			639			Extracellular (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1916A>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655257	0.47467	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D	0.87491	-2.17;-2.18;-2.19;-2.24;-2.23;-2.25;-2.26	5.72	5.72	0.89469	.	0.382901	0.32703	N	0.005755	T	0.76054	0.3934	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.31125	0.001;0.0;0.309;0.067;0.0	B;B;B;B;B	0.26770	0.001;0.001;0.073;0.066;0.001	T	0.77120	-0.2705	10	0.59425	D	0.04	-16.7455	15.9966	0.80256	1.0:0.0:0.0:0.0	.	639;639;639;639;639	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	L	639	ENSP00000353582:Q639L;ENSP00000439658:Q639L;ENSP00000439261:Q639L;ENSP00000349632:Q639L;ENSP00000350432:Q639L;ENSP00000407626:Q639L;ENSP00000272849:Q639L	ENSP00000272849:Q639L	Q	+	2	0	NRP2	206325816	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.456000	0.60081	2.179000	0.69175	0.460000	0.39030	CAG		0.493	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			6	67	0	0	0	0.001984	0	6	67				
NDUFS1	4719	broad.mit.edu	37	2	207008741	207008742	+	Splice_Site	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207008741_207008742CC>AA	ENST00000233190.6	-	10	1253_1254	c.987_988GG>TT	c.(985-990)atGGtg>atTTtg	p.329_330MV>IL	NDUFS1_ENST00000440274.1_Splice_Site_p.293_294MV>IL|NDUFS1_ENST00000432169.1_Splice_Site_p.218_219MV>IL|NDUFS1_ENST00000455934.2_Splice_Site_p.343_344MV>IL|NDUFS1_ENST00000423725.1_Splice_Site_p.272_273MV>IL|NDUFS1_ENST00000449699.1_Splice_Site_p.329_330MV>IL|NDUFS1_ENST00000457011.1_Splice_Site_p.213_214MV>IL	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	329					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAATTTTACCATTCCAGCTA	0.376																																							uc002vbe.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e10+1		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)																																			SO:0001630	splice_region_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207008741_207008742CC>AA		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.987_988delinsAA	2.37:g.207008741_207008742delinsAA						NDUFS1_uc010ziq.1_Splice_Site_p.M343_splice|NDUFS1_uc010zir.1_Splice_Site_p.M293_splice|NDUFS1_uc010zis.1_Splice_Site_p.M272_splice|NDUFS1_uc010zit.1_Splice_Site_p.M218_splice|NDUFS1_uc010ziu.1_Splice_Site_p.M213_splice	p.M329_splice	NM_005006	NP_004997	P28331	NDUS1_HUMAN			10	1114	-								B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Splice_Site	DNP	ENST00000233190.6	37	c.987_splice	CCDS2366.1																																																																																				0.376	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	Missense_Mutation	15	67	0	0	0	0.004672	0	15	67				
ZDBF2	57683	broad.mit.edu	37	2	207176120	207176120	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207176120C>G	ENST00000374423.3	+	5	7254	c.6868C>G	c.(6868-6870)Cct>Gct	p.P2290A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2290							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P2290A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGCAAATCCTCCTCCAAAGCG	0.517																																							uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(6868-6870)CCT>GCT		zinc finger, DBF-type containing 2							33.0	34.0	34.0					2																	207176120		1916	4142	6058	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176120C>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6868C>G	2.37:g.207176120C>G	ENSP00000363545:p.Pro2290Ala						p.P2290A	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7118	+			2290					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6868C>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269876	0.23221	.	.	ENSG00000204186	ENST00000374423	T	0.39056	1.1	5.24	-6.03	0.02185	.	.	.	.	.	T	0.17619	0.0423	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33471	-0.9867	9	0.07325	T	0.83	.	2.6026	0.04870	0.1522:0.1004:0.359:0.3884	.	2290	Q9HCK1	ZDBF2_HUMAN	A	2290	ENSP00000363545:P2290A	ENSP00000363545:P2290A	P	+	1	0	ZDBF2	206884365	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	-0.453000	0.06778	-1.167000	0.02779	-1.078000	0.02229	CCT		0.517	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	17	0	0	0	0.001984	0	6	17				
ZDBF2	57683	broad.mit.edu	37	2	207176151	207176151	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207176151G>C	ENST00000374423.3	+	5	7285	c.6899G>C	c.(6898-6900)cGc>cCc	p.R2300P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2300							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R2300P(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTTCTTGCCGCGTTGCAAGA	0.507																																							uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(6898-6900)CGC>CCC		zinc finger, DBF-type containing 2							33.0	34.0	34.0					2																	207176151		1918	4139	6057	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176151G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6899G>C	2.37:g.207176151G>C	ENSP00000363545:p.Arg2300Pro						p.R2300P	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7149	+			2300					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6899G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.413	1.080976	0.20309	.	.	ENSG00000204186	ENST00000374423	T	0.43294	0.95	5.17	-5.12	0.02893	.	.	.	.	.	T	0.23688	0.0573	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	9	0.27785	T	0.31	.	2.3203	0.04208	0.4449:0.1049:0.3105:0.1397	.	2300	Q9HCK1	ZDBF2_HUMAN	P	2300	ENSP00000363545:R2300P	ENSP00000363545:R2300P	R	+	2	0	ZDBF2	206884396	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.231000	0.17872	-1.273000	0.02424	-1.854000	0.00565	CGC		0.507	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	25	0	0	0	0.004482	0	6	25				
CRYGB	1419	broad.mit.edu	37	2	209010557	209010557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:209010557C>A	ENST00000260988.4	-	2	240	c.193G>T	c.(193-195)Gac>Tac	p.D65Y		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	65	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.D65Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TGCTGGTAGTCAGGGTACTCC	0.597																																							uc002vcp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GAC>TAC		crystallin, gamma B							44.0	47.0	46.0					2																	209010557		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209010557C>A		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.193G>T	2.37:g.209010557C>A	ENSP00000260988:p.Asp65Tyr						p.D65Y	NM_005210	NP_005201	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	226	-			65			Beta/gamma crystallin 'Greek key' 2.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.193G>T	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541493	0.45280	.	.	ENSG00000182187	ENST00000260988	T	0.78003	-1.14	4.71	3.84	0.44239	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.046390	0.85682	D	0.000000	D	0.90896	0.7139	H	0.98178	4.165	0.50039	D	0.999848	D	0.89917	1.0	D	0.81914	0.995	D	0.91012	0.4850	10	0.87932	D	0	.	7.584	0.27982	0.0:0.8104:0.0:0.1896	.	65	P07316	CRGB_HUMAN	Y	65	ENSP00000260988:D65Y	ENSP00000260988:D65Y	D	-	1	0	CRYGB	208718802	0.941000	0.31946	1.000000	0.80357	0.285000	0.27093	2.086000	0.41643	1.355000	0.45865	-0.236000	0.12185	GAC		0.597	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		14	110	1	0	0.000308642	0.003163	0.000343751	14	110				
CPS1	1373	broad.mit.edu	37	2	211464252	211464252	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:211464252C>A	ENST00000233072.5	+	14	1712	c.1516C>A	c.(1516-1518)Ctg>Atg	p.L506M	CPS1_ENST00000430249.2_Missense_Mutation_p.L512M|CPS1_ENST00000451903.2_Missense_Mutation_p.L55M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	506					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L512M(1)|p.L506M(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGGTTAATTCTGGGCATGGG	0.448																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1516-1518)CTG>ATG		carbamoyl-phosphate synthetase 1 isoform b							126.0	127.0	126.0					2																	211464252		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464252C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1516C>A	2.37:g.211464252C>A	ENSP00000233072:p.Leu506Met					CPS1_uc010fur.2_Missense_Mutation_p.L512M|CPS1_uc010fus.2_Missense_Mutation_p.L55M	p.L506M	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1648	+			506					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1516C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562428	0.65538	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.97620	-4.46;-4.46;-4.46	5.17	4.3	0.51218	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.072364	0.64402	D	0.000020	D	0.98785	0.9591	H	0.94423	3.535	0.48452	D	0.999651	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.98	D	0.99577	1.0972	10	0.87932	D	0	-15.5587	14.3172	0.66460	0.0:0.9271:0.0:0.0729	.	516;506	Q59HF8;P31327	.;CPSM_HUMAN	M	512;514;506;506;55	ENSP00000402608:L512M;ENSP00000233072:L506M;ENSP00000406136:L55M	ENSP00000233072:L506M	L	+	1	2	CPS1	211172497	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	2.413000	0.44618	1.316000	0.45131	0.455000	0.32223	CTG		0.448	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			18	86	1	0	2.89027e-11	0.002299	4.31894e-11	18	86				
ERBB4	2066	broad.mit.edu	37	2	212288980	212288980	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:212288980A>T	ENST00000342788.4	-	23	3076	c.2766T>A	c.(2764-2766)gaT>gaA	p.D922E	ERBB4_ENST00000436443.1_Missense_Mutation_p.D922E|ERBB4_ENST00000402597.1_Missense_Mutation_p.D912E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D922E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTGGAATTCCATCATAGGGTT	0.378										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2764-2766)GAT>GAA		v-erb-a erythroblastic leukemia viral oncogene							106.0	102.0	103.0					2																	212288980		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212288980A>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2766T>A	2.37:g.212288980A>T	ENSP00000342235:p.Asp922Glu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.D922E|ERBB4_uc010zji.1_Missense_Mutation_p.D912E|ERBB4_uc010zjj.1_Missense_Mutation_p.D912E	p.D922E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	23	2864	-		Renal(323;0.06)|Lung NSC(271;0.197)	922			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2766T>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644507	0.47258	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.81908	-1.55;-1.55;-1.55	6.16	3.81	0.43845	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	N	0.11064	0.09	0.54753	D	0.999985	B;B;B;B	0.25609	0.012;0.002;0.107;0.13	B;B;B;B	0.25506	0.006;0.018;0.036;0.061	T	0.61367	-0.7077	10	0.46703	T	0.11	.	10.6491	0.45638	0.8741:0.0:0.1259:0.0	.	912;912;922;922	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	E	922;922;912	ENSP00000342235:D922E;ENSP00000403204:D922E;ENSP00000385565:D912E	ENSP00000342235:D922E	D	-	3	2	ERBB4	211997225	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.676000	0.54612	0.571000	0.29365	-0.911000	0.02809	GAT		0.378	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		9	55	0	0	0	0.000978	0	9	55				
PECR	55825	broad.mit.edu	37	2	216914082	216914082	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:216914082G>A	ENST00000265322.7	-	6	692	c.618C>T	c.(616-618)tcC>tcT	p.S206S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	206					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.S206S(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGCAGTCTGGGAATAAATAA	0.353																																							uc002vft.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(616-618)TCC>TCT		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						75.0	82.0	79.0					2																	216914082		2203	4300	6503	SO:0001819	synonymous_variant	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216914082G>A	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.618C>T	2.37:g.216914082G>A						PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_Silent_p.S68S|PECR_uc002vfs.2_Silent_p.S60S	p.S206S	NM_018441	NP_060911	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	686	-		Renal(323;0.0327)	206					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Silent	SNP	ENST00000265322.7	37	c.618C>T	CCDS33375.1																																																																																				0.353	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		15	169	0	0	0	0.003163	0	15	169				
MARCH4	57574	broad.mit.edu	37	2	217124200	217124200	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:217124200G>T	ENST00000273067.4	-	4	2834	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	356						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A356A(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGCTCAGGGGCAGGGGTGC	0.637																																							uc002vgb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1066-1068)GCC>GCA		membrane-associated ring finger (C3HC4) 4							48.0	51.0	50.0					2																	217124200		2202	4300	6502	SO:0001819	synonymous_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124200G>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1068C>A	2.37:g.217124200G>T							p.A356A	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2835	-		Renal(323;0.0854)	356					Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	c.1068C>A	CCDS33376.1																																																																																				0.637	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		15	86	1	0	2.62699e-14	0.003163	4.27973e-14	15	86				
AAMP	14	broad.mit.edu	37	2	219131295	219131295	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219131295G>A	ENST00000248450.4	-	5	720	c.550C>T	c.(550-552)Cct>Tct	p.P184S	AAMP_ENST00000420660.1_Missense_Mutation_p.P165S|AAMP_ENST00000444053.1_Missense_Mutation_p.P185S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	184					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.P184S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGCCCGAGGATGCCACTCC	0.632																																							uc002vhk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)CCT>TCT		angio-associated, migratory cell protein							39.0	38.0	39.0					2																	219131295		2198	4297	6495	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131295G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.550C>T	2.37:g.219131295G>A	ENSP00000248450:p.Pro184Ser					AAMP_uc002vhj.2_Missense_Mutation_p.P165S|AAMP_uc010fvo.2_Missense_Mutation_p.P184S|AAMP_uc002vhl.2_Missense_Mutation_p.P185S	p.P184S	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	634	-		Renal(207;0.0474)	184			WD 3.		Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.550C>T	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999611	0.35320	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	T;T;T;T	0.23754	1.89;1.89;1.89;4.61	5.76	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.55103	1.725	0.80722	D	1	B;B;B	0.20671	0.038;0.047;0.031	B;B;B	0.18263	0.016;0.021;0.01	T	0.04551	-1.0943	10	0.59425	D	0.04	-8.1476	15.069	0.72021	0.0681:0.0:0.9319:0.0	.	185;184;165	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	S	184;185;165;138	ENSP00000248450:P184S;ENSP00000403343:P185S;ENSP00000416394:P165S;ENSP00000393818:P138S	ENSP00000248450:P184S	P	-	1	0	AAMP	218839539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.870000	0.87175	1.440000	0.47531	0.650000	0.86243	CCT		0.632	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		5	52	0	0	0	0.001984	0	5	52				
CCDC108	255101	broad.mit.edu	37	2	219893021	219893021	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219893021G>T	ENST00000341552.5	-	12	1836	c.1753C>A	c.(1753-1755)Cgg>Agg	p.R585R	CCDC108_ENST00000409865.3_Silent_p.R574R|CCDC108_ENST00000441968.1_Silent_p.R585R|CCDC108_ENST00000410037.1_Silent_p.R520R|CCDC108_ENST00000453220.1_Silent_p.R585R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	585						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R585R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAGGCCCCGGGCCAGGTGT	0.622																																							uc002vjl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1753-1755)CGG>AGG		coiled-coil domain containing 108 isoform 1							107.0	109.0	108.0					2																	219893021		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219893021G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1753C>A	2.37:g.219893021G>T						CCDC108_uc010fwa.1_Silent_p.R28R|CCDC108_uc010zkp.1_Silent_p.R574R|CCDC108_uc010zkq.1_Silent_p.R520R	p.R585R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1837	-		Renal(207;0.0915)	585					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1753C>A	CCDS2430.2																																																																																				0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	130	1	0	4.34311e-12	0.003271	6.67231e-12	27	130				
CCDC108	255101	broad.mit.edu	37	2	219894146	219894146	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219894146C>T	ENST00000341552.5	-	11	1712	c.1629G>A	c.(1627-1629)gtG>gtA	p.V543V	CCDC108_ENST00000409865.3_Silent_p.V532V|CCDC108_ENST00000441968.1_Silent_p.V543V|CCDC108_ENST00000410037.1_Silent_p.V478V|CCDC108_ENST00000453220.1_Silent_p.V543V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	543						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.V543V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGACAGGCCACACGCCGAA	0.637											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002vjl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1627-1629)GTG>GTA		coiled-coil domain containing 108 isoform 1							76.0	70.0	72.0					2																	219894146		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219894146C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1629G>A	2.37:g.219894146C>T			OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.V532V|CCDC108_uc010zkq.1_Silent_p.V478V	p.V543V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1713	-		Renal(207;0.0915)	543					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1629G>A	CCDS2430.2																																																																																				0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		8	37	0	0	0	0.004482	0	8	37				
FAM134A	79137	broad.mit.edu	37	2	220046857	220046857	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220046857A>T	ENST00000430297.2	+	9	1274	c.1138A>T	c.(1138-1140)Agg>Tgg	p.R380W		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	380						integral component of membrane (GO:0016021)		p.R380W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCTGTCAAGGCAAGCCCT	0.587																																							uc002vjw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1138-1140)AGG>TGG		hypothetical protein LOC79137							119.0	128.0	125.0					2																	220046857		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046857A>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1138A>T	2.37:g.220046857A>T	ENSP00000395249:p.Arg380Trp					FAM134A_uc010fwc.2_Missense_Mutation_p.R173W|FAM134A_uc002vjx.2_Missense_Mutation_p.R173W	p.R380W	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1274	+		Renal(207;0.0915)	380					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1138A>T	CCDS2434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.60|12.60	1.986944|1.986944	0.35036|0.35036	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000420189|ENST00000430297;ENST00000443518	.|T	.|0.32753	.|1.44	4.79|4.79	-0.492|-0.492	0.12041|0.12041	.|.	.|1.349600	.|0.04573	.|N	.|0.393564	T|T	0.27765|0.27765	0.0683|0.0683	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P	.|0.52692	.|0.692;0.955	.|B;P	.|0.46172	.|0.28;0.506	T|T	0.20140|0.20140	-1.0284|-1.0284	5|9	.|.	.|.	.|.	0.1218|0.1218	5.2947|5.2947	0.15747|0.15747	0.4082:0.1711:0.4208:0.0|0.4082:0.1711:0.4208:0.0	.|.	.|173;380	.|E7EUL4;Q8NC44	.|.;F134A_HUMAN	M|W	74|380;173	.|ENSP00000395249:R380W	.|.	K|R	+|+	2|1	0|2	FAM134A|FAM134A	219755101|219755101	0.987000|0.987000	0.35691|0.35691	0.101000|0.101000	0.21167|0.21167	0.274000|0.274000	0.26718|0.26718	1.302000|1.302000	0.33459|0.33459	-0.225000|-0.225000	0.09913|0.09913	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.587	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		40	252	0	0	0	0.00361	0	40	252				
FAM134A	79137	broad.mit.edu	37	2	220046971	220046971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220046971C>T	ENST00000430297.2	+	9	1388	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	418						integral component of membrane (GO:0016021)		p.P418S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGGGTCCCCCCCAGATGG	0.607																																							uc002vjw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1252-1254)CCC>TCC		hypothetical protein LOC79137							109.0	118.0	115.0					2																	220046971		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046971C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1252C>T	2.37:g.220046971C>T	ENSP00000395249:p.Pro418Ser					FAM134A_uc010fwc.2_Missense_Mutation_p.P211S|FAM134A_uc002vjx.2_Missense_Mutation_p.P211S	p.P418S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1388	+		Renal(207;0.0915)	418					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1252C>T	CCDS2434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.694|9.694	1.152559|1.152559	0.21371|0.21371	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000420189|ENST00000430297;ENST00000443518	.|T	.|0.30981	.|1.51	5.26|5.26	2.39|2.39	0.29439|0.29439	.|.	0.486565|0.486565	0.20920|0.20920	N|N	0.083286|0.083286	T|T	0.32194|0.32194	0.0821|0.0821	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D;P	.|0.56287	.|0.975;0.915	.|P;B	.|0.51516	.|0.672;0.297	T|T	0.22277|0.22277	-1.0221|-1.0221	6|9	.|.	.|.	.|.	-5.0094|-5.0094	1.2996|1.2996	0.02076|0.02076	0.1567:0.4465:0.1347:0.2621|0.1567:0.4465:0.1347:0.2621	.|.	.|211;418	.|E7EUL4;Q8NC44	.|.;F134A_HUMAN	L|S	112|418;211	.|ENSP00000395249:P418S	.|.	P|P	+|+	2|1	0|0	FAM134A|FAM134A	219755215|219755215	0.001000|0.001000	0.12720|0.12720	0.944000|0.944000	0.38274|0.38274	0.470000|0.470000	0.32858|0.32858	0.962000|0.962000	0.29280|0.29280	0.324000|0.324000	0.23333|0.23333	-1.105000|-1.105000	0.02106|0.02106	CCC|CCC		0.607	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		36	318	0	0	0	0.007835	0	36	318				
SPEG	10290	broad.mit.edu	37	2	220352934	220352934	+	Missense_Mutation	SNP	A	A	T	rs576909918		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220352934A>T	ENST00000312358.7	+	32	7892	c.7760A>T	c.(7759-7761)cAc>cTc	p.H2587L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2587	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H2587L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGTCTTCCACATCAAACTC	0.612																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(7759-7761)CAC>CTC		SPEG complex locus							81.0	85.0	84.0					2																	220352934		1999	4181	6180	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220352934A>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7760A>T	2.37:g.220352934A>T	ENSP00000311684:p.His2587Leu						p.H2587L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	32	7760	+		Renal(207;0.0183)	2587			Ig-like 9.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7760A>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171040	0.57584	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.71461	-0.57	4.71	3.57	0.40892	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38548	U	0.001660	T	0.65375	0.2685	N	0.11724	0.165	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59989	-0.7350	10	0.16420	T	0.52	.	9.6318	0.39785	0.9169:0.0:0.083:0.0	.	2587	Q15772	SPEG_HUMAN	L	2587	ENSP00000311684:H2587L	ENSP00000265327:H2587L	H	+	2	0	SPEG	220061178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.983000	0.70540	1.768000	0.52137	0.482000	0.46254	CAC		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		30	130	0	0	0	0.007291	0	30	130				
ASIC4	55515	broad.mit.edu	37	2	220399952	220399952	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220399952C>A	ENST00000347842.3	+	5	1473	c.1459C>A	c.(1459-1461)Cgc>Agc	p.R487S	ASIC4_ENST00000358078.4_Missense_Mutation_p.R506S	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	487					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.R506S(1)									CAACCTGACACGCTATGGGAA	0.602																																							uc002vma.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1459-1461)CGC>AGC		amiloride-sensitive cation channel 4 isoform 2							57.0	50.0	52.0					2																	220399952		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220399952C>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1459C>A	2.37:g.220399952C>A	ENSP00000326627:p.Arg487Ser					ACCN4_uc002vlz.2_Missense_Mutation_p.R506S|ACCN4_uc002vmb.2_Missense_Mutation_p.R160S	p.R487S	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	5	1473	+		Renal(207;0.0183)	487			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1459C>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746322	0.69418	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.64438	-0.1;-0.1	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.41124	1.26	0.80722	D	1	P;P	0.52842	0.956;0.934	P;P	0.58172	0.759;0.834	T	0.61292	-0.7092	10	0.20519	T	0.43	-23.6377	18.1597	0.89704	0.0:1.0:0.0:0.0	.	487;506	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	S	487;506	ENSP00000326627:R487S;ENSP00000350786:R506S	ENSP00000326627:R487S	R	+	1	0	ACCN4	220108196	1.000000	0.71417	0.502000	0.27614	0.300000	0.27592	7.609000	0.82925	2.602000	0.87976	0.650000	0.86243	CGC		0.602	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		6	79	1	0	0.00198382	0.001984	0.00212876	6	79				
TMEM198	130612	broad.mit.edu	37	2	220413975	220413975	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220413975C>A	ENST00000344458.2	+	5	1429	c.844C>A	c.(844-846)Ctc>Atc	p.L282I	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.L282I|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	282	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L282I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCGGGCTCCCCTCAGAGGTCC	0.642																																							uc002vme.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(844-846)CTC>ATC		transmembrane protein 198							49.0	58.0	55.0					2																	220413975		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220413975C>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.844C>A	2.37:g.220413975C>A	ENSP00000343507:p.Leu282Ile					TMEM198_uc002vmf.2_Missense_Mutation_p.L282I|hsa-mir-3132|MI0014152_5'Flank	p.L282I	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1429	+		Renal(207;0.0376)	282			Arg-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.844C>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081596	0.36758	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.95	-1.64	0.08318	.	0.608577	0.16799	N	0.199081	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16660	-1.0395	9	0.29301	T	0.29	-1.4991	6.1745	0.20437	0.0:0.4264:0.1295:0.4441	.	282	Q66K66	TM198_HUMAN	I	282	.	ENSP00000343507:L282I	L	+	1	0	TMEM198	220122219	0.000000	0.05858	0.374000	0.26016	0.990000	0.78478	-0.147000	0.10234	-0.192000	0.10432	0.555000	0.69702	CTC		0.642	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		27	162	1	0	1.22384e-17	0.002836	2.1239e-17	27	162				
OBSL1	23363	broad.mit.edu	37	2	220418377	220418377	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220418377G>T	ENST00000404537.1	-	16	4964	c.4908C>A	c.(4906-4908)caC>caA	p.H1636Q	OBSL1_ENST00000373876.1_Missense_Mutation_p.H1544Q|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1636	Ig-like 13.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.H1636Q(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTCTAGGTCGTGTGGCCCCC	0.627											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc010fwk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4906-4908)CAC>CAA		obscurin-like 1							43.0	46.0	45.0					2																	220418377		2097	4207	6304	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220418377G>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4908C>A	2.37:g.220418377G>T	ENSP00000385636:p.His1636Gln		OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266		p.H1636Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	16	4965	-		Renal(207;0.0376)	1636			Ig-like 13.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4908C>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	g	7.901	0.734410	0.15574	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.65178	-0.14;-0.14	4.22	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29945	0.0749	N	0.00750	-1.22	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07139	-1.0788	9	0.21014	T	0.42	.	12.9898	0.58612	0.0:0.8357:0.1643:0.0	.	1636	O75147	OBSL1_HUMAN	Q	1636;1544	ENSP00000385636:H1636Q;ENSP00000362983:H1544Q	ENSP00000362983:H1544Q	H	-	3	2	OBSL1	220126621	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.531000	0.23052	1.016000	0.39470	-0.220000	0.12472	CAC		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			4	35	1	0	2.0095e-06	0.001984	2.47478e-06	4	35				
PAX3	5077	broad.mit.edu	37	2	223096856	223096856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:223096856C>A	ENST00000350526.4	-	5	869	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	PAX3_ENST00000344493.4_Missense_Mutation_p.D245Y|PAX3_ENST00000409551.3_Missense_Mutation_p.D244Y|PAX3_ENST00000392069.2_Missense_Mutation_p.D245Y|PAX3_ENST00000336840.6_Missense_Mutation_p.D245Y|PAX3_ENST00000392070.2_Missense_Mutation_p.D245Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	245					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D245Y(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTATAAATGTCAGGGTAATGA	0.527			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(733-735)GAC>TAC		paired box 3 isoform PAX3							134.0	134.0	134.0					2																	223096856		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096856C>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.733G>T	2.37:g.223096856C>A	ENSP00000343052:p.Asp245Tyr					PAX3_uc002vmt.1_Missense_Mutation_p.D245Y|PAX3_uc002vmy.1_Missense_Mutation_p.D244Y|PAX3_uc002vmv.1_Missense_Mutation_p.D245Y|PAX3_uc002vmw.1_Missense_Mutation_p.D245Y|PAX3_uc002vmx.1_Missense_Mutation_p.D245Y	p.D245Y	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1099	-		Renal(207;0.0183)	245			Homeobox.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.733G>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828067	0.90955	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.994;0.999	D	0.98871	1.0766	10	0.87932	D	0	.	19.1177	0.93348	0.0:1.0:0.0:0.0	.	245;244;245;245;245	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	Y	245;245;245;245;245;244	ENSP00000375921:D245Y;ENSP00000342092:D245Y;ENSP00000343052:D245Y;ENSP00000375922:D245Y;ENSP00000338767:D245Y;ENSP00000386750:D244Y	ENSP00000338767:D245Y	D	-	1	0	PAX3	222805100	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.510000	0.84645	0.557000	0.71058	GAC		0.527	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			19	122	1	0	3.51602e-12	0.008871	5.4356e-12	19	122				
IRS1	3667	broad.mit.edu	37	2	227663167	227663167	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:227663167C>A	ENST00000305123.5	-	1	1308	c.288G>T	c.(286-288)gcG>gcT	p.A96A	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	96	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A96A(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCTGTCCGCCGCGATGGCAA	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(286-288)GCG>GCT		insulin receptor substrate 1							71.0	86.0	81.0					2																	227663167		2202	4300	6502	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663167C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.288G>T	2.37:g.227663167C>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.A96A	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	340	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	96			PH.|Mediates interaction with PHIP (By similarity).			Silent	SNP	ENST00000305123.5	37	c.288G>T	CCDS2463.1																																																																																				0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		48	169	1	0	1.19451e-25	0.00361	2.25172e-25	48	169				
SPHKAP	80309	broad.mit.edu	37	2	228883020	228883020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:228883020C>A	ENST00000392056.3	-	7	2596	c.2550G>T	c.(2548-2550)gaG>gaT	p.E850D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E850D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	850						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E850D(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCATTCATTCTCACTGTGAT	0.502																																							uc002vpq.2		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)	skin(5)|ovary(4)|lung(1)	10						c.(2548-2550)GAG>GAT		sphingosine kinase type 1-interacting protein							741.0	700.0	714.0					2																	228883020		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883020C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2550G>T	2.37:g.228883020C>A	ENSP00000375909:p.Glu850Asp					SPHKAP_uc002vpp.2_Missense_Mutation_p.E850D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E850D	p.E850D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2597	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	850					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2550G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	4.560	0.103932	0.08731	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	6.17	2.34	0.29019	.	0.894418	0.10067	N	0.720194	T	0.14657	0.0354	L	0.57536	1.79	0.24968	N	0.991684	B;B	0.30236	0.006;0.274	B;B	0.30179	0.005;0.112	T	0.28870	-1.0030	10	0.29301	T	0.29	.	8.2504	0.31715	0.0:0.4462:0.4149:0.1389	.	850;850	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	850	ENSP00000375909:E850D;ENSP00000339886:E850D	ENSP00000339886:E850D	E	-	3	2	SPHKAP	228591264	0.000000	0.05858	0.059000	0.19551	0.298000	0.27526	0.890000	0.28295	0.152000	0.19188	0.655000	0.94253	GAG		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		61	885	1	0	7.50695e-29	0.00361	1.43434e-28	61	885				
SPHKAP	80309	broad.mit.edu	37	2	228973593	228973593	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:228973593G>T	ENST00000392056.3	-	3	247	c.201C>A	c.(199-201)ccC>ccA	p.P67P	SPHKAP_ENST00000344657.5_Silent_p.P67P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	67						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.C68fs*6(2)|p.P67P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAATTTGGCAGGGCATCCTCT	0.458																																							uc002vpq.2		NA																	4	Deletion - Frameshift(2)|Substitution - coding silent(2)		lung(4)	skin(5)|ovary(4)|lung(1)	10						c.(199-201)CCC>CCA		sphingosine kinase type 1-interacting protein							90.0	90.0	90.0					2																	228973593		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228973593G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.201C>A	2.37:g.228973593G>T						SPHKAP_uc002vpp.2_Silent_p.P67P|SPHKAP_uc010zlx.1_Silent_p.P67P	p.P67P	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	3	248	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	67					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.201C>A	CCDS46537.1																																																																																				0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		13	75	1	0	6.31663e-08	0.003163	8.32627e-08	13	75				
DNER	92737	broad.mit.edu	37	2	230456378	230456378	+	Missense_Mutation	SNP	C	C	A	rs141603946		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:230456378C>A	ENST00000341772.4	-	2	637	c.503G>T	c.(502-504)cGc>cTc	p.R168L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	168					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.R168L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGCCTGAGAGCGAGGCAGGAT	0.542																																							uc002vpv.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(502-504)CGC>CTC		delta-notch-like EGF repeat-containing							90.0	80.0	83.0					2																	230456378		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456378C>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.503G>T	2.37:g.230456378C>A	ENSP00000345229:p.Arg168Leu						p.R168L	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	650	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	168			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.503G>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340126	0.11069	.	.	ENSG00000187957	ENST00000341772	D	0.84730	-1.89	5.69	2.8	0.32819	.	0.439260	0.25894	N	0.027606	T	0.64427	0.2597	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.47761	-0.9092	10	0.10902	T	0.67	.	6.0054	0.19542	0.0919:0.5948:0.1191:0.1941	.	168	Q8NFT8	DNER_HUMAN	L	168	ENSP00000345229:R168L	ENSP00000345229:R168L	R	-	2	0	DNER	230164622	0.566000	0.26618	0.249000	0.24280	0.001000	0.01503	-0.125000	0.10579	0.332000	0.23536	-0.797000	0.03246	CGC		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		21	94	1	0	4.54149e-19	0.002299	8.09569e-19	21	94				
SP140L	93349	broad.mit.edu	37	2	231193546	231193546	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:231193546G>T	ENST00000415673.2	+	2	193	c.107G>T	c.(106-108)aGg>aTg	p.R36M	SP140L_ENST00000243810.6_Splice_Site_p.R36M|SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Splice_Site_p.R36M|SP140L_ENST00000444636.1_Splice_Site_p.R36M	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	36	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R36M(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						agtctgcaaaggtgatgaaga	0.393																																							uc010fxm.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(106-108)AGG>ATG		SP140 nuclear body protein-like							87.0	93.0	91.0					2																	231193546		2202	4300	6502	SO:0001630	splice_region_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231193546G>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.107+1G>T	2.37:g.231193546G>T						SP140_uc010zma.1_Intron	p.R36M	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			2	198	+			36			HSR.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.107G>T	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435102	0.12045	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88124	-2.19;-1.87;-2.19;-2.34	2.16	0.268	0.15626	.	.	.	.	.	D	0.82609	0.5074	M	0.69823	2.125	0.09310	N	1	P	0.40834	0.73	B	0.37267	0.245	T	0.73467	-0.3973	9	0.87932	D	0	.	4.4599	0.11661	0.3545:0.0:0.6455:0.0	.	36	Q9H930-4	.	M	36	ENSP00000395195:R36M;ENSP00000397911:R36M;ENSP00000243810:R36M;ENSP00000379811:R36M	ENSP00000243810:R36M	R	+	2	0	SP140L	230901790	0.021000	0.18746	0.001000	0.08648	0.024000	0.10985	0.011000	0.13264	0.055000	0.16094	0.511000	0.50034	AGG		0.393	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402	Missense_Mutation	6	52	1	0	1.06961e-07	0.00308	1.40521e-07	6	52				
NMUR1	10316	broad.mit.edu	37	2	232390050	232390050	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:232390050C>A	ENST00000305141.4	-	3	1118	c.985G>T	c.(985-987)Ggc>Tgc	p.G329C		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	329					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.G329C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGGTGCAGGCCATCTGTCCAC	0.632																																							uc002vry.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(985-987)GGC>TGC		neuromedin U receptor 1							72.0	60.0	64.0					2																	232390050		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232390050C>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.985G>T	2.37:g.232390050C>A	ENSP00000305877:p.Gly329Cys						p.G329C	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1095	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	329			Extracellular (Potential).		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.985G>T	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323428	0.10900	.	.	ENSG00000171596	ENST00000305141	T	0.68903	-0.36	5.22	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.627240	0.02829	N	0.126506	T	0.64516	0.2605	M	0.66506	2.035	0.09310	N	1	B	0.15930	0.015	B	0.21151	0.033	T	0.37291	-0.9712	10	0.44086	T	0.13	-4.7149	2.6138	0.04898	0.1307:0.5232:0.1267:0.2194	.	329	Q9HB89	NMUR1_HUMAN	C	329	ENSP00000305877:G329C	ENSP00000305877:G329C	G	-	1	0	NMUR1	232098294	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	0.268000	0.18571	0.224000	0.20940	0.555000	0.69702	GGC		0.632	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		28	75	1	0	2.49675e-24	0.007291	4.63547e-24	28	75				
NEU2	4759	broad.mit.edu	37	2	233898903	233898903	+	Silent	SNP	G	G	T	rs2233387		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:233898903G>T	ENST00000233840.3	+	2	279	c.279G>T	c.(277-279)gcG>gcT	p.A93A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	93					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.A93A(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TGTATGACGCGCAGACGGGGA	0.617																																							uc010zmn.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GCG>GCT		neuraminidase 2							122.0	98.0	106.0					2																	233898903		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233898903G>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.279G>T	2.37:g.233898903G>T							p.A93A	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	279	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	93					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.279G>T	CCDS2501.1																																																																																				0.617	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		33	196	1	0	2.80507e-11	0.002445	4.2012e-11	33	196				
TRPM8	79054	broad.mit.edu	37	2	234835272	234835272	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:234835272G>T	ENST00000324695.4	+	2	130	c.90G>T	c.(88-90)cgG>cgT	p.R30R	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	30					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R30R(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCGCGTCTCGGAGCACAGACT	0.502																																							uc002vvh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(88-90)CGG>CGT		transient receptor potential cation channel,	Menthol(DB00825)						117.0	100.0	106.0					2																	234835272		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234835272G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.90G>T	2.37:g.234835272G>T						TRPM8_uc010fyj.2_5'UTR	p.R30R	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	2	130	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	30			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.90G>T	CCDS33407.1																																																																																				0.502	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		16	49	1	0	3.41278e-10	0.00499	4.93125e-10	16	49				
SH3BP4	23677	broad.mit.edu	37	2	235950023	235950023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:235950023G>T	ENST00000409212.1	+	4	1117	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.E204*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.E204*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	204					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.E204*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CTCCTTCACCGAATCCAGCTC	0.557																																							uc002vvp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(610-612)GAA>TAA		SH3-domain binding protein 4							97.0	96.0	96.0					2																	235950023		2203	4300	6503	SO:0001587	stop_gained	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950023G>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.610G>T	2.37:g.235950023G>T	ENSP00000386862:p.Glu204*					SH3BP4_uc010fym.2_Nonsense_Mutation_p.E204*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.E204*	p.E204*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1003	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	204					O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	c.610G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540218	0.85917	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	.	.	.	5.48	3.58	0.41010	.	0.423208	0.26601	N	0.023479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.4321	9.259	0.37601	0.0833:0.1485:0.7682:0.0	.	.	.	.	X	204	.	ENSP00000340237:E204X	E	+	1	0	SH3BP4	235614762	0.051000	0.20477	0.165000	0.22776	0.244000	0.25665	1.845000	0.39279	2.564000	0.86499	0.650000	0.86243	GAA		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			50	216	1	0	9.52127e-25	0.00361	1.77442e-24	50	216				
COL6A3	1293	broad.mit.edu	37	2	238249368	238249368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238249368G>T	ENST00000295550.4	-	38	8643	c.8191C>A	c.(8191-8193)Cca>Aca	p.P2731T	COL6A3_ENST00000409809.1_Missense_Mutation_p.P2525T|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2525T|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2531T|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2530T|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2124T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2731	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2731T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTGGGTTTGGGGCACTTTCA	0.567																																							uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8191-8193)CCA>ACA		alpha 3 type VI collagen isoform 1 precursor							91.0	90.0	90.0					2																	238249368		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249368G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8191C>A	2.37:g.238249368G>T	ENSP00000295550:p.Pro2731Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.P2525T|COL6A3_uc010znj.1_Missense_Mutation_p.P2124T|COL6A3_uc002vwj.2_Missense_Mutation_p.P112T	p.P2731T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8476	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2731			VWFA 12.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8191C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	6.033	0.374494	0.11409	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.44	4.54	0.55810	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000045	D	0.89581	0.6756	M	0.74881	2.28	0.53688	D	0.999974	B;B;D	0.58620	0.275;0.145;0.983	B;B;D	0.64144	0.159;0.099;0.922	D	0.89424	0.3712	10	0.41790	T	0.15	.	15.6917	0.77461	0.0:0.0:0.8619:0.1381	.	2124;2525;2731	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2731;2530;2525;2124;2525;2531	ENSP00000295550:P2731T;ENSP00000315609:P2530T;ENSP00000315873:P2525T;ENSP00000418285:P2124T;ENSP00000386844:P2525T;ENSP00000295546:P2531T	ENSP00000295550:P2731T	P	-	1	0	COL6A3	237914107	1.000000	0.71417	0.288000	0.24862	0.070000	0.16714	5.523000	0.67099	1.389000	0.46526	0.655000	0.94253	CCA		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		35	157	1	0	1.60099e-16	0.004878	2.73739e-16	35	157				
COL6A3	1293	broad.mit.edu	37	2	238303368	238303368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238303368C>A	ENST00000295550.4	-	3	1023	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E191*|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E191*|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	191	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E191*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAGCGGTTCACTTGCTATT	0.433																																							uc002vwl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(571-573)GAA>TAA		alpha 3 type VI collagen isoform 1 precursor							133.0	129.0	131.0					2																	238303368		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303368C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.571G>T	2.37:g.238303368C>A	ENSP00000295550:p.Glu191*					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Nonsense_Mutation_p.E191*	p.E191*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	856	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	191			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.571G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147887	0.97324	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	.	.	.	4.9	4.02	0.46733	.	0.695427	0.12244	U	0.486258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.8044	0.34929	0.0:0.7682:0.1495:0.0823	.	.	.	.	X	191	.	ENSP00000295550:E191X	E	-	1	0	COL6A3	237968107	0.004000	0.15560	0.591000	0.28745	0.087000	0.18053	-0.079000	0.11357	1.052000	0.40392	0.455000	0.32223	GAA		0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		10	130	1	0	0.000673444	0.008291	0.000736708	10	130				
LRRFIP1	9208	broad.mit.edu	37	2	238688153	238688153	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238688153G>A	ENST00000308482.9	+	24	1970	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	480					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.S634N(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCAAATCGGAGTGCACTCTTG	0.498																																							uc002vxc.2		NA																	1	Substitution - Missense(1)	p.Q634*(1)	lung(1)	breast(3)	3						c.(1900-1902)AGT>AAT		leucine rich repeat (in FLII) interacting							69.0	65.0	66.0					2																	238688153		1568	3582	5150	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238688153G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1901G>A	2.37:g.238688153G>A	ENSP00000310109:p.Ser634Asn					LRRFIP1_uc010znm.1_Missense_Mutation_p.S388N|LRRFIP1_uc002vxg.2_RNA	p.S634N	NM_001137550	NP_001131022	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	24	1965	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	Error:Variant_position_missing_in_Q32MZ4_after_alignment					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	c.1901G>A	CCDS46551.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066795	0.20067	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.46819	0.86	4.85	4.85	0.62838	.	.	.	.	.	T	0.38558	0.1045	L	0.28115	0.83	0.80722	D	1	B;B	0.19583	0.01;0.037	B;B	0.17098	0.008;0.017	T	0.18777	-1.0326	9	0.45353	T	0.12	.	17.3552	0.87334	0.0:0.0:1.0:0.0	.	388;634	B4DPC0;E9PGZ2	.;.	N	634;624	ENSP00000310109:S634N	ENSP00000310109:S634N	S	+	2	0	LRRFIP1	238352892	0.997000	0.39634	0.125000	0.21846	0.206000	0.24218	2.745000	0.47459	2.409000	0.81822	0.563000	0.77884	AGT		0.498	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		4	54	0	0	0	0.001168	0	4	54				
HDAC4	9759	broad.mit.edu	37	2	240056263	240056263	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:240056263G>A	ENST00000345617.3	-	10	1846	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P321L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	352					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P352L(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTGATGTTGGGCAAGGATGG	0.647																																							uc002vyk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(1054-1056)CCC>CTC		histone deacetylase 4							112.0	113.0	113.0					2																	240056263		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240056263G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1055C>T	2.37:g.240056263G>A	ENSP00000264606:p.Pro352Leu					HDAC4_uc010fyz.1_Missense_Mutation_p.P347L|HDAC4_uc010zoa.1_Missense_Mutation_p.P347L|HDAC4_uc010fza.2_Missense_Mutation_p.P352L|HDAC4_uc010fyy.2_Missense_Mutation_p.P304L|HDAC4_uc010znz.1_Missense_Mutation_p.P235L|HDAC4_uc010fzb.1_RNA	p.P352L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	10	1847	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	352					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1055C>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.102228|4.102228	0.76983|0.76983	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621|ENST00000445704	D;T|.	0.82984|.	-1.67;-0.7|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78748|0.78748	0.4332|0.4332	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;P;P|.	0.89917|.	1.0;0.957;1.0;1.0;0.809;0.907|.	D;P;D;D;B;B|.	0.91635|.	0.997;0.845;0.999;0.999;0.395;0.346|.	T|T	0.81581|0.81581	-0.0867|-0.0867	9|6	.|.	.|.	.|.	.|.	17.7023|17.7023	0.88299|0.88299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347;235;321;321;320;352|.	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524|.	.;.;.;.;.;HDAC4_HUMAN|.	L|S	352;235;321;235|96	ENSP00000264606:P352L;ENSP00000443057:P321L|.	.|.	P|P	-|-	2|1	0|0	HDAC4|HDAC4	239721200|239721200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.284000|0.284000	0.27059|0.27059	9.277000|9.277000	0.95755|0.95755	2.339000|2.339000	0.79563|0.79563	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.647	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		8	81	0	0	0	0.008291	0	8	81				
HDLBP	3069	broad.mit.edu	37	2	242195624	242195624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:242195624C>A	ENST00000391975.1	-	7	1075	c.848G>T	c.(847-849)cGc>cTc	p.R283L	HDLBP_ENST00000427183.2_Missense_Mutation_p.R319L|HDLBP_ENST00000391976.2_Missense_Mutation_p.R283L|HDLBP_ENST00000310931.4_Missense_Mutation_p.R283L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	283	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R283L(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTTCTTGATGCGAGCCACAGC	0.512																																							uc002waz.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(847-849)CGC>CTC		high density lipoprotein binding protein							84.0	74.0	78.0					2																	242195624		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242195624C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.848G>T	2.37:g.242195624C>A	ENSP00000375836:p.Arg283Leu					HDLBP_uc002wba.2_Missense_Mutation_p.R283L|HDLBP_uc002wbb.2_Missense_Mutation_p.R304L|HDLBP_uc010fzn.1_Missense_Mutation_p.R35L	p.R283L	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	7	1076	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	283			KH 2.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.848G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.502804|3.502804	0.64298|0.64298	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78	6.13|6.13	6.13|6.13	0.99165|0.99165	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.091941	.|0.64402	.|D	.|0.000001	T|T	0.35998|0.35998	0.0951|0.0951	M|M	0.73217|0.73217	2.22|2.22	0.29497|0.29497	N|N	0.855186|0.855186	.|B;B;B	.|0.17667	.|0.01;0.023;0.01	.|B;B;B	.|0.22880	.|0.026;0.039;0.042	T|T	0.16394|0.16394	-1.0404|-1.0404	5|10	.|0.42905	.|T	.|0.14	-14.0824|-14.0824	20.8599|20.8599	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|283;319;283	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	S|L	184|283;283;283;319	.|ENSP00000375836:R283L;ENSP00000375837:R283L;ENSP00000312042:R283L;ENSP00000399139:R319L	.|ENSP00000312042:R283L	A|R	-|-	1|2	0|0	HDLBP|HDLBP	241844297|241844297	0.960000|0.960000	0.32886|0.32886	0.880000|0.880000	0.34516|0.34516	0.912000|0.912000	0.54170|0.54170	2.732000|2.732000	0.47352|0.47352	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.512	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		19	84	1	0	2.39556e-15	0.00278	4.0055e-15	19	84				
D2HGDH	728294	broad.mit.edu	37	2	242707190	242707190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:242707190G>T	ENST00000321264.4	+	10	1581	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Nonsense_Mutation_p.E324*	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	458					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.E458*(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCTGCCCTGGAGCCCCACGT	0.672																																							uc002wce.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1372-1374)GAG>TAG		D-2-hydroxyglutarate dehydrogenase precursor							33.0	38.0	37.0					2																	242707190		2203	4295	6498	SO:0001587	stop_gained	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707190G>T	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1372G>T	2.37:g.242707190G>T	ENSP00000315351:p.Glu458*					D2HGDH_uc010fzq.1_Nonsense_Mutation_p.E324*|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Nonsense_Mutation_p.E157*	p.E458*	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1545	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	458					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Nonsense_Mutation	SNP	ENST00000321264.4	37	c.1372G>T	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.051826|4.051826	0.75960|0.75960	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211|ENST00000445308	.|.	.|.	.|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72993	.|0.3530	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73754	.|-0.3883	.|4	0.87932|.	D|.	0|.	3.9205|3.9205	17.0957|17.0957	0.86634|0.86634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	458;324;78|256	.|.	ENSP00000315351:E458X|.	E|W	+|+	1|3	0|0	D2HGDH|D2HGDH	242355863|242355863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.508000|0.508000	0.34012|0.34012	8.836000|8.836000	0.92105|0.92105	2.016000|2.016000	0.59253|0.59253	0.457000|0.457000	0.33378|0.33378	GAG|TGG		0.672	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		13	55	1	0	2.31682e-05	0.003163	2.70915e-05	13	55				
PROKR2	128674	broad.mit.edu	37	20	5294854	5294854	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:5294854G>A	ENST00000217270.3	-	1	161	c.162C>T	c.(160-162)atC>atT	p.I54I	PROKR2_ENST00000546004.1_Silent_p.I54I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	54					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.I54I(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						TGCCAATGACGATCTTGGCTG	0.517										HNSCC(71;0.22)																													uc010zqw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(160-162)ATC>ATT		prokineticin receptor 2							158.0	131.0	140.0					20																	5294854		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294854G>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.162C>T	20.37:g.5294854G>A		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.I54I|PROKR2_uc010zqy.1_Silent_p.I54I|uc002wly.1_5'Flank	p.I54I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	162	-			54			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.162C>T	CCDS13089.1																																																																																				0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		19	155	0	0	0	0.001882	0	19	155				
ISM1	140862	broad.mit.edu	37	20	13260326	13260326	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:13260326G>A	ENST00000262487.4	+	3	430	c.424G>A	c.(424-426)Gat>Aat	p.D142N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	142						extracellular region (GO:0005576)		p.D142N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AGCAGATAAAGATCAGCATCC	0.587																																							uc010gce.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAT>AAT		isthmin 1 homolog precursor							41.0	46.0	44.0					20																	13260326		1954	4121	6075	SO:0001583	missense	140862					extracellular region		g.chr20:13260326G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.424G>A	20.37:g.13260326G>A	ENSP00000262487:p.Asp142Asn					TASP1_uc010zri.1_Intron	p.D142N	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			3	430	+			142					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.424G>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008207	0.75046	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.57907	0.37;0.44	5.83	5.83	0.93111	.	0.187226	0.56097	D	0.000027	T	0.51126	0.1656	L	0.46157	1.445	0.80722	D	1	B	0.27559	0.181	B	0.23419	0.046	T	0.50065	-0.8871	10	0.87932	D	0	-7.3062	20.1184	0.97949	0.0:0.0:1.0:0.0	.	142	B1AKI9	ISM1_HUMAN	N	142;96	ENSP00000262487:D142N;ENSP00000409938:D96N	ENSP00000262487:D142N	D	+	1	0	ISM1	13208326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.078000	0.76821	2.769000	0.95229	0.655000	0.94253	GAT		0.587	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			6	57	0	0	0	0.001168	0	6	57				
ISM1	140862	broad.mit.edu	37	20	13260371	13260371	+	Missense_Mutation	SNP	G	G	A	rs201480551		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:13260371G>A	ENST00000262487.4	+	3	475	c.469G>A	c.(469-471)Gac>Aac	p.D157N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	157						extracellular region (GO:0005576)		p.D157N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCCATCCCCCGACTGGCGGGC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18384	0.0		0.001	False		,,,				2504	0.0						uc010gce.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAC>AAC		isthmin 1 homolog precursor							39.0	47.0	45.0					20																	13260371		1901	4103	6004	SO:0001583	missense	140862					extracellular region		g.chr20:13260371G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.469G>A	20.37:g.13260371G>A	ENSP00000262487:p.Asp157Asn					TASP1_uc010zri.1_Intron	p.D157N	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			3	475	+			157					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.469G>A	CCDS46579.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.66	2.600820	0.46423	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.43688	0.97;0.94	5.83	5.83	0.93111	.	0.043712	0.85682	D	0.000000	T	0.31451	0.0797	N	0.14661	0.345	0.80722	D	1	B	0.20988	0.05	B	0.14578	0.011	T	0.04737	-1.0930	10	0.39692	T	0.17	-15.0705	20.1184	0.97949	0.0:0.0:1.0:0.0	.	157	B1AKI9	ISM1_HUMAN	N	157;111	ENSP00000262487:D157N;ENSP00000409938:D111N	ENSP00000262487:D157N	D	+	1	0	ISM1	13208371	1.000000	0.71417	0.983000	0.44433	0.912000	0.54170	6.908000	0.75730	2.769000	0.95229	0.655000	0.94253	GAC		0.572	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			10	51	0	0	0	0.003163	0	10	51				
CD93	22918	broad.mit.edu	37	20	23066263	23066263	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:23066263C>T	ENST00000246006.4	-	1	714	c.567G>A	c.(565-567)cgG>cgA	p.R189R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	189					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.R189R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCCAGAGGCCGGCACATGC	0.642																																							uc002wsv.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(565-567)CGG>CGA		CD93 antigen precursor							47.0	55.0	52.0					20																	23066263		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066263C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.567G>A	20.37:g.23066263C>T							p.R189R	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	715	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		189			Extracellular (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.567G>A	CCDS13149.1																																																																																				0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		35	119	0	0	0	0.00874	0	35	119				
CD93	22918	broad.mit.edu	37	20	23066266	23066266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:23066266G>T	ENST00000246006.4	-	1	711	c.564C>A	c.(562-564)tgC>tgA	p.C188*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	188					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.C188*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGAGGCCGGCACATGCCTT	0.652																																							uc002wsv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)	2						c.(562-564)TGC>TGA		CD93 antigen precursor							47.0	54.0	52.0					20																	23066266		2203	4300	6503	SO:0001587	stop_gained	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066266G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.564C>A	20.37:g.23066266G>T	ENSP00000246006:p.Cys188*						p.C188*	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	712	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		188			Extracellular (Potential).		O00274	Nonsense_Mutation	SNP	ENST00000246006.4	37	c.564C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	37	6.338045	0.97485	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	.	.	.	5.31	2.22	0.28083	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3155	10.3141	0.43725	0.2855:0.0:0.7145:0.0	.	.	.	.	X	188	.	ENSP00000246006:C188X	C	-	3	2	CD93	23014266	0.963000	0.33076	0.991000	0.47740	0.996000	0.88848	1.462000	0.35266	0.295000	0.22570	0.655000	0.94253	TGC		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		36	118	1	0	1.30475e-32	0.009718	2.53229e-32	36	118				
DEFB115	245929	broad.mit.edu	37	20	29847348	29847348	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:29847348G>T	ENST00000400552.1	+	2	180	c.180G>T	c.(178-180)ggG>ggT	p.G60G		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	60					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.G60G(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAAATGTGGGGAAAAACATA	0.373																																							uc002wvp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)GGG>GGT		beta-defensin 115 precursor							91.0	86.0	88.0					20																	29847348		1857	4098	5955	SO:0001819	synonymous_variant	245929				defense response to bacterium	extracellular region		g.chr20:29847348G>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.180G>T	20.37:g.29847348G>T							p.G60G	NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)		2	180	+			60						Silent	SNP	ENST00000400552.1	37	c.180G>T	CCDS42859.1																																																																																				0.373	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		20	58	1	0	7.87624e-14	0.00278	1.27471e-13	20	58				
REM1	28954	broad.mit.edu	37	20	30065698	30065698	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30065698G>T	ENST00000201979.2	+	3	701	c.408G>T	c.(406-408)tgG>tgT	p.W136C	DEFB124_ENST00000481595.1_5'Flank	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	136					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.W136C(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGACACCTGGGAGGCCGAGA	0.562																																							uc002wwa.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(406-408)TGG>TGT		RAS-like GTP-binding protein REM							90.0	72.0	78.0					20																	30065698		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30065698G>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.408G>T	20.37:g.30065698G>T	ENSP00000201979:p.Trp136Cys						p.W136C	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	692	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		136					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.408G>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804447	0.70682	.	.	ENSG00000088320	ENST00000201979	T	0.76316	-1.01	4.5	4.5	0.54988	Small GTP-binding protein domain (1);	0.166694	0.46758	D	0.000262	D	0.88262	0.6389	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90036	0.4138	10	0.72032	D	0.01	.	16.3764	0.83401	0.0:0.0:1.0:0.0	.	136	O75628	REM1_HUMAN	C	136	ENSP00000201979:W136C	ENSP00000201979:W136C	W	+	3	0	REM1	29529359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.063000	0.93927	2.329000	0.79093	0.563000	0.77884	TGG		0.562	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		8	28	1	0	0.000442599	0.006214	0.000490172	8	28				
REM1	28954	broad.mit.edu	37	20	30070104	30070104	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30070104C>G	ENST00000201979.2	+	4	731	c.438C>G	c.(436-438)agC>agG	p.S146R		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	146					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S146R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGCTGGAGCCAGGAGTCAT	0.592																																							uc002wwa.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(436-438)AGC>AGG		RAS-like GTP-binding protein REM							67.0	63.0	65.0					20																	30070104		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070104C>G	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.438C>G	20.37:g.30070104C>G	ENSP00000201979:p.Ser146Arg						p.S146R	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	722	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		146					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.438C>G	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631552	0.29068	.	.	ENSG00000088320	ENST00000201979	T	0.79653	-1.29	4.82	3.86	0.44501	Small GTP-binding protein domain (1);	0.557037	0.20351	N	0.094041	T	0.62073	0.2398	N	0.08118	0	0.39227	D	0.963618	B	0.13145	0.007	B	0.16289	0.015	T	0.59495	-0.7444	10	0.48119	T	0.1	.	9.0828	0.36563	0.1576:0.665:0.1774:0.0	.	146	O75628	REM1_HUMAN	R	146	ENSP00000201979:S146R	ENSP00000201979:S146R	S	+	3	2	REM1	29533765	0.246000	0.23909	1.000000	0.80357	0.783000	0.44284	1.498000	0.35660	1.198000	0.43158	0.655000	0.94253	AGC		0.592	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		8	95	0	0	0	0.004482	0	8	95				
XKR7	343702	broad.mit.edu	37	20	30584558	30584558	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30584558G>A	ENST00000562532.2	+	3	1212	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	346						integral component of membrane (GO:0016021)		p.G346G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCCAAGGGGAGACGGACT	0.562																																							uc002wxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1036-1038)GGG>GGA		XK, Kell blood group complex subunit-related							84.0	69.0	74.0					20																	30584558		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584558G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1038G>A	20.37:g.30584558G>A							p.G346G	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1212	+			346					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1038G>A	CCDS33459.1																																																																																				0.562	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		17	60	0	0	0	0.004007	0	17	60				
HCK	3055	broad.mit.edu	37	20	30659585	30659585	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30659585G>A	ENST00000520553.1	+	2	366	c.120G>A	c.(118-120)ccG>ccA	p.P40P	HCK_ENST00000518730.1_Splice_Site_p.P40P|HCK_ENST00000538448.1_Splice_Site_p.P40P|HCK_ENST00000375862.2_Splice_Site_p.P61P|HCK_ENST00000375852.2_Splice_Site_p.P61P|HCK_ENST00000534862.1_Splice_Site_p.P41P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	61					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P40P(1)|p.P61P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCATCAAGCCGGTGAGTAGGG	0.582																																							uc002wxh.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(181-183)CCG>CCA		hemopoietic cell kinase isoform p61HCK							60.0	50.0	53.0					20																	30659585		2203	4300	6503	SO:0001630	splice_region_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659585G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.120+1G>A	20.37:g.30659585G>A						HCK_uc010gdy.2_Silent_p.P40P|HCK_uc002wxi.2_Silent_p.P40P	p.P61P	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	354	+			61					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.183G>A	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		Silent	11	46	0	0	0	0.008871	0	11	46				
ASXL1	171023	broad.mit.edu	37	20	31021302	31021302	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:31021302G>T	ENST00000375687.4	+	12	1725	c.1301G>T	c.(1300-1302)gGg>gTg	p.G434V	ASXL1_ENST00000306058.5_Missense_Mutation_p.G429V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	434	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G434V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACAAGCAGGGGTTGCTAAG	0.532			"""F, N, Mis"""		"""MDS, CMML"""																																		uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1300-1302)GGG>GTG		additional sex combs like 1 isoform 1							99.0	97.0	97.0					20																	31021302		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021302G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1301G>T	20.37:g.31021302G>T	ENSP00000364839:p.Gly434Val					ASXL1_uc010geb.2_Missense_Mutation_p.G325V	p.G434V	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	1727	+			434					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1301G>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364050	0.24684	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14266	2.52;2.52	4.58	-4.53	0.03462	.	0.837692	0.11066	N	0.603454	T	0.07773	0.0195	L	0.44542	1.39	0.37398	D	0.91272	P;B	0.35745	0.518;0.384	B;B	0.34590	0.186;0.081	T	0.42682	-0.9437	10	0.30854	T	0.27	0.0896	0.6071	0.00755	0.3591:0.2688:0.1324:0.2397	.	429;434	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	434;434;434;373;429	ENSP00000364839:G434V;ENSP00000305119:G429V	ENSP00000305119:G429V	G	+	2	0	ASXL1	30484963	0.922000	0.31269	0.009000	0.14445	0.972000	0.66771	1.126000	0.31344	-0.640000	0.05495	-0.181000	0.13052	GGG		0.532	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		37	150	1	0	1.07121e-22	0.006999	1.97206e-22	37	150				
NCOA6	23054	broad.mit.edu	37	20	33337364	33337364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:33337364C>A	ENST00000374796.2	-	10	5204	c.2634G>T	c.(2632-2634)aaG>aaT	p.K878N	NCOA6_ENST00000359003.2_Missense_Mutation_p.K878N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	878	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.K878N(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCGTGACATCCTTATTGACTG	0.448																																							uc002xav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(2632-2634)AAG>AAT		nuclear receptor coactivator 6							113.0	104.0	107.0					20																	33337364		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337364C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2634G>T	20.37:g.33337364C>A	ENSP00000363929:p.Lys878Asn					NCOA6_uc002xaw.2_Missense_Mutation_p.K878N	p.K878N	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	5205	-			878			TBP/GTF2A-binding region.|NCOA1-binding region.|NCOA6IP-binding region.|CREBBP-binding region.|Gln-rich.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2634G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273050	0.59649	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.47528	0.84;0.84	5.99	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.32530	0.975	0.49051	D	0.999749	P	0.52577	0.954	P	0.47981	0.563	T	0.32025	-0.9922	10	0.72032	D	0.01	-11.0036	8.9667	0.35881	0.0:0.65:0.0:0.35	.	878	Q14686	NCOA6_HUMAN	N	878	ENSP00000363929:K878N;ENSP00000351894:K878N	ENSP00000351894:K878N	K	-	3	2	NCOA6	32801025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.063000	0.30567	0.849000	0.35215	0.655000	0.94253	AAG		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	150	1	0	3.27435e-08	0.00245	4.3599e-08	12	150				
MMP24	10893	broad.mit.edu	37	20	33867799	33867799	+	IGR	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:33867799C>A	ENST00000246186.6	+	0	4412				EIF6_ENST00000374436.3_Missense_Mutation_p.K164N|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000424358.1_RNA|EIF6_ENST00000374450.3_Missense_Mutation_p.K164N|MMP24-AS1_ENST00000455178.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_Missense_Mutation_p.K145N|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K164N(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CAATTGAAGTCTTGGGATGCA	0.532																																							uc002xbv.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(490-492)AAG>AAT		eukaryotic translation initiation factor 6							181.0	180.0	181.0					20																	33867799		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867799C>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867799C>A						EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.K164N|EIF6_uc002xbz.1_Missense_Mutation_p.K145N|EIF6_uc002xby.1_RNA	p.K164N	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	708	-			164					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.492G>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162925	0.38217	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.25	2.8	0.32819	.	0.151545	0.64402	D	0.000020	T	0.46268	0.1384	L	0.49640	1.575	0.45239	D	0.998244	B;B	0.24092	0.097;0.005	B;B	0.21708	0.036;0.013	T	0.27088	-1.0084	9	0.30854	T	0.27	-19.0596	7.238	0.26079	0.0:0.5787:0.0:0.4213	.	145;164	B7ZBG9;P56537	.;IF6_HUMAN	N	164;145;164	.	ENSP00000363559:K164N	K	-	3	2	EIF6	33331213	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.729000	0.26028	0.464000	0.27142	-0.300000	0.09419	AAG		0.532	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		76	279	1	0	5.96624e-29	0.00361	1.14218e-28	76	279				
CEP250	11190	broad.mit.edu	37	20	34092529	34092529	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:34092529T>A	ENST00000397527.1	+	30	7052	c.6332T>A	c.(6331-6333)cTg>cAg	p.L2111Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2055Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2111	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2111Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGAGATTCTGGAGCTGAGG	0.498																																							uc002xcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(6331-6333)CTG>CAG		centrosomal protein 2							81.0	87.0	85.0					20																	34092529		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092529T>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6332T>A	20.37:g.34092529T>A	ENSP00000380661:p.Leu2111Gln					CEP250_uc010zve.1_Missense_Mutation_p.L1479Q	p.L2111Q	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	7003	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2111			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6332T>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858813	0.32884	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.46451	2.91;2.9;0.87	4.78	2.41	0.29592	.	1.025670	0.07805	N	0.957101	T	0.38108	0.1028	L	0.59436	1.845	0.09310	N	1	P	0.49783	0.928	P	0.46253	0.509	T	0.18366	-1.0339	10	0.15066	T	0.55	.	1.9037	0.03273	0.1549:0.1122:0.1606:0.5723	.	2111	Q9BV73	CP250_HUMAN	Q	2111;2055;599	ENSP00000380661:L2111Q;ENSP00000341541:L2055Q;ENSP00000395992:L599Q	ENSP00000341541:L2055Q	L	+	2	0	CEP250	33555943	0.011000	0.17503	0.629000	0.29254	0.717000	0.41224	-0.157000	0.10085	0.285000	0.22329	0.459000	0.35465	CTG		0.498	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		45	135	0	0	0	0.002852	0	45	135				
VSTM2L	128434	broad.mit.edu	37	20	36560130	36560130	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:36560130A>G	ENST00000373461.4	+	2	462	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	VSTM2L_ENST00000373458.3_Missense_Mutation_p.Y72C|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	72	Ig-like.							p.Y72C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCCCCCTCCTACTCGCTGGAG	0.647																																							uc002xhk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(214-216)TAC>TGC		V-set and transmembrane domain containing 2 like							95.0	84.0	87.0					20																	36560130		2203	4300	6503	SO:0001583	missense	128434							g.chr20:36560130A>G	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.215A>G	20.37:g.36560130A>G	ENSP00000362560:p.Tyr72Cys						p.Y72C	NM_080607	NP_542174	Q96N03	VTM2L_HUMAN			2	469	+		Myeloproliferative disorder(115;0.00878)	72			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.215A>G	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974973	0.74360	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.64991	1.66;-0.13;1.66	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266919	0.38381	N	0.001709	T	0.76241	0.3960	M	0.66939	2.045	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.79398	-0.1820	10	0.87932	D	0	-15.883	13.5528	0.61743	1.0:0.0:0.0:0.0	.	72	Q96N03	VTM2L_HUMAN	C	72	ENSP00000362557:Y72C;ENSP00000362560:Y72C;ENSP00000406537:Y72C	ENSP00000362557:Y72C	Y	+	2	0	VSTM2L	35993544	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.143000	0.77348	1.859000	0.53934	0.397000	0.26171	TAC		0.647	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			50	129	0	0	0	0.00361	0	50	129				
KIAA1755	85449	broad.mit.edu	37	20	36841717	36841717	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:36841717A>T	ENST00000279024.4	-	14	3601	c.3330T>A	c.(3328-3330)ccT>ccA	p.P1110P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1110								p.P1110P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGGGGCCCAGGAGGCCAAT	0.602																																							uc002xhy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3328-3330)CCT>CCA		hypothetical protein LOC85449							33.0	29.0	30.0					20																	36841717		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36841717A>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3330T>A	20.37:g.36841717A>T						KIAA1755_uc002xhv.1_Silent_p.P174P|KIAA1755_uc002xhw.1_Silent_p.P165P|KIAA1755_uc002xhx.1_Silent_p.P388P	p.P1110P	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			14	3602	-		Myeloproliferative disorder(115;0.00874)	1110					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.3330T>A	CCDS33467.1																																																																																				0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		10	31	0	0	0	0.000978	0	10	31				
PTPRT	11122	broad.mit.edu	37	20	40757458	40757458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40757458C>A	ENST00000373187.1	-	19	2782	c.2783G>T	c.(2782-2784)cGg>cTg	p.R928L	PTPRT_ENST00000356100.2_Missense_Mutation_p.R937L|PTPRT_ENST00000373198.4_Missense_Mutation_p.R947L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R931L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R918L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R918L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R927L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	928	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R950L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCCTCACCCGGGAATGGTC	0.522																																							uc002xkg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2782-2784)CGG>CTG		protein tyrosine phosphatase, receptor type, T							61.0	70.0	67.0					20																	40757458		2083	4211	6294	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40757458C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2783G>T	20.37:g.40757458C>A	ENSP00000362283:p.Arg928Leu					PTPRT_uc010ggj.2_Missense_Mutation_p.R947L|PTPRT_uc010ggi.2_Missense_Mutation_p.R131L	p.R928L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			19	2967	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	928			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2783G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648445	0.87958	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85827	0.1389	10	0.87932	D	0	.	14.83	0.70139	0.0:1.0:0.0:0.0	.	950;928	O14522-1;O14522	.;PTPRT_HUMAN	L	927;928;931;937;950;918;918	ENSP00000362286:R927L;ENSP00000362283:R928L;ENSP00000362289:R931L;ENSP00000348408:R937L;ENSP00000362294:R950L;ENSP00000362280:R918L;ENSP00000362297:R918L	ENSP00000348408:R937L	R	-	2	0	PTPRT	40190872	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.787000	0.69013	2.647000	0.89833	0.655000	0.94253	CGG		0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			17	66	1	0	1.50039e-11	0.001882	2.26613e-11	17	66				
PTPRT	11122	broad.mit.edu	37	20	40790177	40790178	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40790177_40790178CA>AT	ENST00000373187.1	-	17	2495_2496	c.2496_2497TG>AT	c.(2494-2499)gaTGgc>gaATgc	p.832_833DG>EC	PTPRT_ENST00000356100.2_Missense_Mutation_p.841_842DG>EC|PTPRT_ENST00000373198.4_Missense_Mutation_p.851_852DG>EC|PTPRT_ENST00000373193.3_Missense_Mutation_p.835_836DG>EC|PTPRT_ENST00000373184.1_Missense_Mutation_p.822_823DG>EC|PTPRT_ENST00000373201.1_Missense_Mutation_p.822_823DG>EC|PTPRT_ENST00000373190.1_Splice_Site_p.831_832NG>KC			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	832					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.D854_G855>EC(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCGCGGCTGCCATCTGCTTCGA	0.599																																							uc002xkg.2		NA																	1	Complex - compound substitution(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2494-2499)GATGGC>GAATGC		protein tyrosine phosphatase, receptor type, T																																				SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40790177_40790178CA>AT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2496_2497delinsAT	20.37:g.40790177_40790178delinsAT	ENSP00000362283:p.D832_G833delinsEC					PTPRT_uc010ggj.2_Missense_Mutation_p.851_852DG>EC|PTPRT_uc010ggi.2_Missense_Mutation_p.35_36DG>EC	p.832_833DG>EC	NM_007050	NP_008981	O14522	PTPRT_HUMAN			17	2680_2681	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	832_833			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	DNP	ENST00000373187.1	37	c.2496_2497TG>AT	CCDS42874.1																																																																																				0.599	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			39	94	0	0	0	0.004672	0	39	94				
RIMS4	140730	broad.mit.edu	37	20	43386739	43386739	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43386739C>A	ENST00000372851.3	-	3	389	c.323G>T	c.(322-324)cGc>cTc	p.R108L	RIMS4_ENST00000541604.2_Missense_Mutation_p.R109L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	108					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R108L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CAGGGTCTGGCGGCCCACAAA	0.592																																							uc002xms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(322-324)CGC>CTC		regulating synaptic membrane exocytosis 4							41.0	44.0	43.0					20																	43386739		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386739C>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.323G>T	20.37:g.43386739C>A	ENSP00000361942:p.Arg108Leu					RIMS4_uc010ggu.2_Missense_Mutation_p.R109L	p.R108L	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			3	323	-		Myeloproliferative disorder(115;0.0122)	108					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.323G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676549	0.96764	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.27402	1.67;1.72	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.62807	-0.6776	10	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	109;108	E1P613;Q9H426	.;RIMS4_HUMAN	L	108;109	ENSP00000361942:R108L;ENSP00000439287:R109L	ENSP00000361942:R108L	R	-	2	0	RIMS4	42820153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	CGC		0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		11	108	1	0	3.07112e-06	0.000978	3.73776e-06	11	108				
STK4	6789	broad.mit.edu	37	20	43629814	43629814	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43629814G>A	ENST00000372806.3	+	9	1062	c.967G>A	c.(967-969)Gat>Aat	p.D323N	STK4_ENST00000396731.4_Missense_Mutation_p.D323N|STK4_ENST00000372801.1_Missense_Mutation_p.D323N|STK4_ENST00000499879.2_Missense_Mutation_p.D268N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	323					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.D323N(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ACAGGAAGAGGATGAAATGGA	0.418																																					GBM(187;1039 2137 11798 21916 33213)	GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(967-969)GAT>AAT		serine/threonine kinase 4							86.0	76.0	79.0					20																	43629814		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43629814G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.967G>A	20.37:g.43629814G>A	ENSP00000361892:p.Asp323Asn					STK4_uc010ggx.2_Missense_Mutation_p.D323N|STK4_uc010ggy.2_Missense_Mutation_p.D268N	p.D323N	NM_006282	NP_006273	Q13043	STK4_HUMAN			9	1057	+		Myeloproliferative disorder(115;0.0122)	323					B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.967G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090325	0.94149	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.73258	-0.7;-0.73;-0.73;0.24	5.99	5.99	0.97316	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	M	0.74258	2.255	0.80722	D	1	D;B;B	0.56287	0.975;0.037;0.048	P;B;B	0.60473	0.875;0.048;0.035	T	0.81931	-0.0707	10	0.46703	T	0.11	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	268;323;323	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	N	323;323;323;268	ENSP00000361892:D323N;ENSP00000379957:D323N;ENSP00000361887:D323N;ENSP00000443514:D268N	ENSP00000361887:D323N	D	+	1	0	STK4	43063228	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.555000	0.60767	2.840000	0.97914	0.655000	0.94253	GAT		0.418	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		4	33	0	0	0	0.001168	0	4	33				
RBPJL	11317	broad.mit.edu	37	20	43941003	43941003	+	Missense_Mutation	SNP	C	C	G	rs201253422		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43941003C>G	ENST00000343694.3	+	6	659	c.587C>G	c.(586-588)tCg>tGg	p.S196W	RBPJL_ENST00000372741.3_Missense_Mutation_p.S196W|RBPJL_ENST00000372743.1_Missense_Mutation_p.S196W	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	196					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S196W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TCGAAGCCCTCGCAGAAGAAG	0.647																																							uc002xns.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)TCG>TGG		recombining binding protein L							28.0	30.0	30.0					20																	43941003		2203	4299	6502	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43941003C>G	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.587C>G	20.37:g.43941003C>G	ENSP00000341243:p.Ser196Trp					RBPJL_uc002xnt.2_Missense_Mutation_p.S196W	p.S196W	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			6	659	+		Myeloproliferative disorder(115;0.0122)	196					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.587C>G	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478837	0.84747	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.93189	-3.18;-3.18;-3.18	3.9	3.9	0.45041	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.121669	0.39407	N	0.001365	D	0.96592	0.8888	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97305	0.9933	10	0.87932	D	0	-13.5131	15.3939	0.74774	0.0:1.0:0.0:0.0	.	196;196	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	W	196	ENSP00000361828:S196W;ENSP00000361826:S196W;ENSP00000341243:S196W	ENSP00000341243:S196W	S	+	2	0	RBPJL	43374417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.237000	0.78164	2.144000	0.66660	0.448000	0.29417	TCG		0.647	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		14	37	0	0	0	0.00499	0	14	37				
ZSWIM1	90204	broad.mit.edu	37	20	44512223	44512223	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44512223A>G	ENST00000372523.1	+	2	1087	c.992A>G	c.(991-993)aAt>aGt	p.N331S	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.N331S	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	331						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N331S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CACTCCCTCAATGCCATCTGC	0.572																																							uc010ghi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(991-993)AAT>AGT		zinc finger, SWIM-type containing 1							107.0	97.0	100.0					20																	44512223		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44512223A>G	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.992A>G	20.37:g.44512223A>G	ENSP00000361601:p.Asn331Ser					ZSWIM1_uc010zxh.1_Missense_Mutation_p.N204S	p.N331S	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN			2	1105	+		Myeloproliferative disorder(115;0.028)	331					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.992A>G	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	5.479	0.273374	0.10403	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.21734	1.99;1.99	5.02	3.91	0.45181	.	0.842464	0.10214	N	0.701789	T	0.11367	0.0277	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.36817	-0.9732	10	0.19147	T	0.46	-0.9023	5.8449	0.18661	0.6423:0.2046:0.1532:0.0	.	331	Q9BR11	ZSWM1_HUMAN	S	331	ENSP00000361601:N331S;ENSP00000361598:N331S	ENSP00000361598:N331S	N	+	2	0	ZSWIM1	43945630	0.000000	0.05858	0.958000	0.39756	0.992000	0.81027	0.111000	0.15458	0.915000	0.36847	0.528000	0.53228	AAT		0.572	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		12	225	0	0	0	0.00245	0	12	225				
ZNF335	63925	broad.mit.edu	37	20	44588902	44588902	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44588902G>C	ENST00000322927.2	-	14	2065	c.1965C>G	c.(1963-1965)ccC>ccG	p.P655P	ZNF335_ENST00000426788.1_Silent_p.P500P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	655					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.P655P(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGTGCGGTAGGGACAAAAGC	0.552																																							uc002xqw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1963-1965)CCC>CCG		zinc finger protein 335							113.0	105.0	108.0					20																	44588902		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588902G>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1965C>G	20.37:g.44588902G>C						ZNF335_uc010zxk.1_Silent_p.P500P	p.P655P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			14	2088	-		Myeloproliferative disorder(115;0.0122)	655			C2H2-type 8.		B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.1965C>G	CCDS13389.1																																																																																				0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		10	88	0	0	0	0.000978	0	10	88				
MMP9	4318	broad.mit.edu	37	20	44642321	44642321	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44642321A>T	ENST00000372330.3	+	10	1655	c.1636A>T	c.(1636-1638)Agg>Tgg	p.R546W	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	546					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R546W(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTCTGAGGGCAGGGGGAGCCG	0.657											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1636-1638)AGG>TGG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						26.0	30.0	28.0					20																	44642321		2203	4299	6502	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642321A>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1636A>T	20.37:g.44642321A>T	ENSP00000361405:p.Arg546Trp		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.R546W	NM_004994	NP_004985	P14780	MMP9_HUMAN			10	1655	+		Myeloproliferative disorder(115;0.0122)	546			Hemopexin-like 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1636A>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.556569	0.65425	.	.	ENSG00000100985	ENST00000372330	T	0.24538	1.85	4.85	-9.7	0.00521	Hemopexin/matrixin (2);	1.595100	0.03256	N	0.182615	T	0.20495	0.0493	L	0.52905	1.665	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.16276	-1.0408	10	0.54805	T	0.06	.	5.7356	0.18065	0.2036:0.3884:0.3301:0.0779	.	546	P14780	MMP9_HUMAN	W	546	ENSP00000361405:R546W	ENSP00000361405:R546W	R	+	1	2	MMP9	44075728	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.798000	0.04565	-2.789000	0.00357	0.533000	0.62120	AGG		0.657	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			7	32	0	0	0	0.008291	0	7	32				
PREX1	57580	broad.mit.edu	37	20	47268094	47268094	+	Missense_Mutation	SNP	C	C	A	rs138988694		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:47268094C>A	ENST00000371941.3	-	22	2517	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	PREX1_ENST00000396220.1_Missense_Mutation_p.R832L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	832					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R832L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGGCTCAGCCGGGGACCCAG	0.612																																							uc002xtw.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(2494-2496)CGG>CTG		phosphatidylinositol-3,4,							54.0	49.0	51.0					20																	47268094		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47268094C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2495G>T	20.37:g.47268094C>A	ENSP00000361009:p.Arg832Leu					PREX1_uc002xtv.1_Missense_Mutation_p.R129L	p.R832L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		22	2518	-			832					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2495G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	c	12.06	1.823271	0.32237	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.61040	0.16;0.14	4.82	2.56	0.30785	.	0.513361	0.16178	U	0.225959	T	0.36799	0.0980	N	0.14661	0.345	0.25312	N	0.989191	B;B	0.25312	0.0;0.123	B;B	0.24269	0.002;0.052	T	0.22487	-1.0215	10	0.48119	T	0.1	.	7.1555	0.25635	0.0:0.0906:0.1888:0.7206	.	832;129	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	832	ENSP00000361009:R832L;ENSP00000379522:R832L	ENSP00000361009:R832L	R	-	2	0	PREX1	46701501	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	1.897000	0.39799	0.229000	0.21039	-1.309000	0.01313	CGG		0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		5	85	1	0	8.12818e-05	0.001984	9.2732e-05	5	85				
PARD6B	84612	broad.mit.edu	37	20	49366767	49366767	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:49366767G>T	ENST00000371610.2	+	3	1104	c.861G>T	c.(859-861)gaG>gaT	p.E287D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	287					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.E287D(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TTGAGCCAGAGGATGAAGACA	0.463																																							uc002xvo.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(859-861)GAG>GAT		PAR-6 beta							126.0	124.0	125.0					20																	49366767		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366767G>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.861G>T	20.37:g.49366767G>T	ENSP00000360672:p.Glu287Asp						p.E287D	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			3	1104	+			287					A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.861G>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.987148	0.02180	.	.	ENSG00000124171	ENST00000371610	T	0.14516	2.5	5.71	-3.13	0.05266	.	0.428382	0.27577	N	0.018742	T	0.05364	0.0142	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43877	-0.9364	10	0.06891	T	0.86	-16.7574	6.9729	0.24658	0.6636:0.0:0.1963:0.1401	.	287	Q9BYG5	PAR6B_HUMAN	D	287	ENSP00000360672:E287D	ENSP00000360672:E287D	E	+	3	2	PARD6B	48800174	0.951000	0.32395	0.004000	0.12327	0.003000	0.03518	0.065000	0.14466	-0.353000	0.08224	-1.808000	0.00615	GAG		0.463	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		15	170	1	0	2.23348e-06	0.004007	2.74033e-06	15	170				
TSHZ2	128553	broad.mit.edu	37	20	51870276	51870276	+	Silent	SNP	G	G	T	rs200568023		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:51870276G>T	ENST00000371497.5	+	2	1166	c.279G>T	c.(277-279)tcG>tcT	p.S93S	TSHZ2_ENST00000329613.6_Silent_p.S90S|TSHZ2_ENST00000603338.2_Silent_p.S90S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	93					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)	p.S93S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGTGTCGGACATCAAGA	0.502																																							uc002xwo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(277-279)TCG>TCT		teashirt zinc finger homeobox 2							107.0	91.0	96.0					20																	51870276		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870276G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.279G>T	20.37:g.51870276G>T							p.S93S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1235	+			93					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.279G>T	CCDS33490.1																																																																																				0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		27	77	1	0	1.17739e-12	0.005443	1.84778e-12	27	77				
TSHZ2	128553	broad.mit.edu	37	20	51871406	51871406	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:51871406A>T	ENST00000371497.5	+	2	2296	c.1409A>T	c.(1408-1410)gAg>gTg	p.E470V	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E467V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E467V|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	470					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)	p.E470V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAAAGGCCAGAGGAAACCAGC	0.418																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1408-1410)GAG>GTG		teashirt zinc finger homeobox 2							92.0	99.0	97.0					20																	51871406		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871406A>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1409A>T	20.37:g.51871406A>T	ENSP00000360552:p.Glu470Val						p.E470V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2365	+			470					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1409A>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	8.120	0.780705	0.16120	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.23147	1.92;1.92	5.95	4.86	0.63082	.	0.361246	0.32533	N	0.005963	T	0.25531	0.0621	L	0.34521	1.04	0.46749	D	0.999184	P	0.50710	0.938	P	0.49140	0.601	T	0.01692	-1.1294	10	0.23302	T	0.38	-3.6519	11.695	0.51538	0.9313:0.0:0.0687:0.0	.	470	Q9NRE2	TSH2_HUMAN	V	470;467	ENSP00000360552:E470V;ENSP00000333114:E467V	ENSP00000333114:E467V	E	+	2	0	TSHZ2	51304813	1.000000	0.71417	0.367000	0.25926	0.086000	0.17979	4.977000	0.63792	1.086000	0.41228	0.523000	0.50628	GAG		0.418	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		12	187	0	0	0	0.00245	0	12	187				
MC3R	4159	broad.mit.edu	37	20	54823861	54823861	+	5'UTR	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:54823861C>A	ENST00000243911.2	+	0	74					NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L25M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTACGGACCCTGCTGGAGCC	0.532																																							uc002xxb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(-40--36)CCCTG>CCATG		melanocortin 3 receptor							149.0	162.0	158.0					20																	54823861		2203	4300	6503	SO:0001623	5_prime_UTR_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823861C>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.-39C>A	20.37:g.54823861C>A								NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	74	+								Q4KN27|Q9H517	Translation_Start_Site	SNP	ENST00000243911.2	37	c.-38C>A	CCDS13449.2																																																																																				0.532	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			81	326	1	0	1.09326e-46	0.00361	2.1667e-46	81	326				
FAM209A	200232	broad.mit.edu	37	20	55100027	55100028	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:55100027_55100028TG>CT	ENST00000371328.3	+	1	486_487	c.163_164TG>CT	c.(163-165)TGg>CTg	p.W55L	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	55						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.W55L(1)									CACCCAAGGCTGGCTTGGGAGC	0.495																																							uc002xxx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TGG>CTG		hypothetical protein LOC200232 precursor																																				SO:0001583	missense	200232					integral to membrane		g.chr20:55100027_55100028TG>CT	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	Exception_encountered	20.37:g.55100027_55100028delinsCT	ENSP00000360379:p.Trp55Leu					GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Missense_Mutation_p.W55L	p.W55L	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	Colorectal(105;0.202)		1	243_244	+			55			Helical; (Potential).		Q05C43	Missense_Mutation	DNP	ENST00000371328.3	37	c.163_164TG>CT	CCDS33493.1																																																																																				0.495	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			13	165	0	0	0	0.004672	0	13	165				
GNAS	2778	broad.mit.edu	37	20	57430252	57430252	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:57430252G>A	ENST00000306120.3	+	1	1742	c.1742G>A	c.(1741-1743)aGc>aAc	p.S581N	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Silent_p.K644K|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.K644K|GNAS_ENST00000371100.4_Silent_p.K644K			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.K644K(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGCGGAGAAGCGCAGACAGA	0.582			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - coding silent(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1930-1932)AAG>AAA		GNAS complex locus XLas							27.0	31.0	30.0					20																	57430252		2049	4209	6258	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57430252G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.1742G>A	20.37:g.57430252G>A	ENSP00000302237:p.Ser581Asn	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.K644K	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	2217	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000306120.3	37	c.1932G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.838|0.838	-0.742948|-0.742948	0.03088|0.03088	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000306120;ENST00000423897	.|.	.|.	.|.	3.84|3.84	1.82|1.82	0.25136|0.25136	.|.	.|.	.|.	.|.	.|.	T|T	0.58821|0.58821	0.2149|0.2149	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56649|0.56649	-0.7944|-0.7944	4|5	.|0.62326	.|D	.|0.03	.|.	4.8335|4.8335	0.13453|0.13453	0.1146:0.0:0.6763:0.2091|0.1146:0.0:0.6763:0.2091	.|.	.|.	.|.	.|.	T|N	31|581;7	.|.	.|ENSP00000302237:S581N	A|S	+|+	1|2	0|0	GNAS|GNAS	56863647|56863647	0.892000|0.892000	0.30473|0.30473	0.835000|0.835000	0.33067|0.33067	0.294000|0.294000	0.27393|0.27393	1.689000|1.689000	0.37700|0.37700	0.373000|0.373000	0.24621|0.24621	-0.448000|-0.448000	0.05591|0.05591	GCG|AGC		0.582	GNAS-050	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000267987.1	NM_000516		7	16	0	0	0	0.001984	0	7	16				
ZNF831	128611	broad.mit.edu	37	20	57769381	57769381	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:57769381C>T	ENST00000371030.2	+	1	3307	c.3307C>T	c.(3307-3309)Ctg>Ttg	p.L1103L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1103							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L1103L(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)					CAACTGGGAGCTGGGGGAGCC	0.652																																							uc002yan.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(3307-3309)CTG>TTG		zinc finger protein 831							35.0	38.0	37.0					20																	57769381		1908	4120	6028	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769381C>T	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.3307C>T	20.37:g.57769381C>T							p.L1103L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3307	+	all_lung(29;0.0085)		1103					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3307C>T	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		23	82	0	0	0	0.00632	0	23	82				
LAMA5	3911	broad.mit.edu	37	20	60892796	60892796	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:60892796C>A	ENST00000252999.3	-	54	7344	c.7278G>T	c.(7276-7278)ctG>ctT	p.L2426L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2426	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L2426L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAGTGGCCTGCAGGGTGGCAT	0.587																																							uc002ycq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(7276-7278)CTG>CTT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	36.0	37.0					20																	60892796		2186	4278	6464	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60892796C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7278G>T	20.37:g.60892796C>A							p.L2426L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		54	7345	-	Breast(26;1.57e-08)		2426			Domain II and I.|Potential.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.7278G>T	CCDS33502.1																																																																																				0.587	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	22	1	0	0.000673444	0.008291	0.000736708	8	22				
COL20A1	57642	broad.mit.edu	37	20	61943875	61943875	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:61943875C>G	ENST00000358894.6	+	15	2007	c.1907C>G	c.(1906-1908)tCt>tGt	p.S636C	COL20A1_ENST00000326996.6_Missense_Mutation_p.S636C|COL20A1_ENST00000435874.1_Missense_Mutation_p.S643C|COL20A1_ENST00000422202.1_Missense_Mutation_p.S643C	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	636	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.S636C(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGCTCCTCTACGCTGACT	0.647																																							uc011aau.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1906-1908)TCT>TGT		collagen, type XX, alpha 1							45.0	52.0	50.0					20																	61943875		2201	4299	6500	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943875C>G	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1907C>G	20.37:g.61943875C>G	ENSP00000351767:p.Ser636Cys					COL20A1_uc011aav.1_Missense_Mutation_p.S457C	p.S636C	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			15	2007	+	all_cancers(38;1.39e-10)		636			Fibronectin type-III 4.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1907C>G	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199816	0.38905	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.04917	3.53;3.53;3.53;3.53	4.15	4.15	0.48705	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.335214	0.28290	N	0.015895	T	0.20088	0.0483	M	0.64997	1.995	0.29218	N	0.874103	D;D	0.89917	1.0;1.0	D;D	0.77557	0.986;0.99	T	0.00918	-1.1515	10	0.59425	D	0.04	.	11.9477	0.52938	0.0:1.0:0.0:0.0	.	643;636	Q9P218-2;Q9P218	.;COKA1_HUMAN	C	636;636;643;643	ENSP00000351767:S636C;ENSP00000323077:S636C;ENSP00000408690:S643C;ENSP00000414753:S643C	ENSP00000323077:S636C	S	+	2	0	COL20A1	61414320	0.004000	0.15560	0.737000	0.30932	0.047000	0.14425	0.951000	0.29135	1.887000	0.54652	0.313000	0.20887	TCT		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	83	0	0	0	0.008291	0	7	83				
COL20A1	57642	broad.mit.edu	37	20	61951687	61951687	+	Silent	SNP	C	C	A	rs371179357		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:61951687C>A	ENST00000358894.6	+	25	3220	c.3120C>A	c.(3118-3120)gcC>gcA	p.A1040A	COL20A1_ENST00000326996.6_Silent_p.A1040A|COL20A1_ENST00000435874.1_Silent_p.A1047A|COL20A1_ENST00000422202.1_Silent_p.A1047A	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1040					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.A1040A(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACACCTGGGCCGATGAGGACC	0.652																																							uc011aau.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(3118-3120)GCC>GCA		collagen, type XX, alpha 1							54.0	60.0	58.0					20																	61951687		2125	4236	6361	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951687C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3120C>A	20.37:g.61951687C>A						COL20A1_uc011aav.1_Silent_p.A861A	p.A1040A	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			25	3220	+	all_cancers(38;1.39e-10)		1040					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3120C>A	CCDS46628.1																																																																																				0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		18	83	1	0	6.44725e-10	0.002299	9.24122e-10	18	83				
ZNF512B	57473	broad.mit.edu	37	20	62596021	62596021	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:62596021C>A	ENST00000450537.1	-	6	1143	c.1083G>T	c.(1081-1083)agG>agT	p.R361S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R361S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R361S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	361					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.R361S(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CATTCTCTGGCCTGGCCTGCT	0.667																																							uc002yhl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)AGG>AGT		zinc finger protein 512B							64.0	57.0	59.0					20																	62596021		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62596021C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1083G>T	20.37:g.62596021C>A	ENSP00000393795:p.Arg361Ser						p.R361S	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			6	1137	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		361					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1083G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027395	0.54683	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27890	1.64;1.64;1.64	5.55	4.6	0.57074	.	0.171971	0.50627	D	0.000101	T	0.21841	0.0526	L	0.44542	1.39	0.35083	D	0.76357	P	0.38922	0.651	B	0.24974	0.057	T	0.35176	-0.9799	10	0.48119	T	0.1	-44.8635	11.7228	0.51691	0.0:0.9183:0.0:0.0817	.	361	Q96KM6	Z512B_HUMAN	S	361	ENSP00000358904:R361S;ENSP00000393795:R361S;ENSP00000217130:R361S	ENSP00000217130:R361S	R	-	3	2	ZNF512B	62066465	1.000000	0.71417	0.891000	0.34965	0.904000	0.53231	1.463000	0.35277	1.336000	0.45506	0.591000	0.81541	AGG		0.667	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		20	63	1	0	2.21704e-12	0.00278	3.44095e-12	20	63				
USP25	29761	broad.mit.edu	37	21	17197314	17197314	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:17197314G>A	ENST00000285679.6	+	12	1607	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	USP25_ENST00000285681.2_Missense_Mutation_p.R413K|USP25_ENST00000400183.2_Missense_Mutation_p.R413K|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	413	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R413K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAATAACAAGAATTAAGAGG	0.338																																							uc002yjy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(1237-1239)AGA>AAA		ubiquitin specific peptidase 25							108.0	106.0	107.0					21																	17197314		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17197314G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1238G>A	21.37:g.17197314G>A	ENSP00000285679:p.Arg413Lys					USP25_uc011aby.1_Missense_Mutation_p.R413K|USP25_uc002yjz.1_Missense_Mutation_p.R413K|USP25_uc010gla.1_Intron	p.R413K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	12	1455	+			413					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1238G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780949	0.90282	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.28666	1.6;1.6;1.6	5.74	5.74	0.90152	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.042888	0.85682	D	0.000000	T	0.51805	0.1696	M	0.64404	1.975	0.58432	D	0.999992	D;D;B	0.62365	0.991;0.991;0.004	P;P;B	0.61201	0.885;0.885;0.015	T	0.36696	-0.9737	10	0.42905	T	0.14	.	19.082	0.93186	0.0:0.0:1.0:0.0	.	413;413;413	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	K	413	ENSP00000285681:R413K;ENSP00000285679:R413K;ENSP00000383044:R413K	ENSP00000285679:R413K	R	+	2	0	USP25	16119185	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.312000	0.78968	2.890000	0.99128	0.650000	0.86243	AGA		0.338	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			15	39	0	0	0	0.004007	0	15	39				
NCAM2	4685	broad.mit.edu	37	21	22370902	22370902	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:22370902C>T	ENST00000400546.1	+	1	270	c.21C>T	c.(19-21)ttC>ttT	p.F7F	NCAM2_ENST00000284894.7_Silent_p.F7F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	7					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.F7F(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)		TCCTCTCCTTCTACCTGCTGG	0.562																																							uc002yld.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(19-21)TTC>TTT		neural cell adhesion molecule 2 precursor							115.0	128.0	123.0					21																	22370902		2115	4223	6338	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22370902C>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.21C>T	21.37:g.22370902C>T						NCAM2_uc011acb.1_Silent_p.F7F	p.F7F	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)	1	270	+		Lung NSC(9;0.195)	7					A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.21C>T	CCDS42910.1																																																																																				0.562	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		9	68	0	0	0	0.001855	0	9	68				
LTN1	26046	broad.mit.edu	37	21	30303583	30303583	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:30303583C>A	ENST00000361371.5	-	29	5211	c.5132G>T	c.(5131-5133)gGt>gTt	p.G1711V	LTN1_ENST00000389194.2_Missense_Mutation_p.G1757V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1711					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G1711V(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						ATCTTCAACACCCTCAAAACG	0.363																																							uc002ymr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5269-5271)GGT>GTT		zinc finger protein 294							145.0	137.0	139.0					21																	30303583		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30303583C>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.5132G>T	21.37:g.30303583C>A	ENSP00000354977:p.Gly1711Val						p.G1757V	NM_015565	NP_056380	O94822	LTN1_HUMAN			29	5283	-			1711					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.5270G>T		.	.	.	.	.	.	.	.	.	.	C	29.2	4.986017	0.93044	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.50548	0.74;0.76	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83933	0.0307	10	0.66056	D	0.02	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	1711	O94822	LTN1_HUMAN	V	1757;1711	ENSP00000373846:G1757V;ENSP00000354977:G1711V	ENSP00000354977:G1711V	G	-	2	0	LTN1	29225454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.805000	0.96524	0.655000	0.94253	GGT		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	62	1	0	4.68919e-08	0.008291	6.21436e-08	10	62				
KRTAP6-2	337967	broad.mit.edu	37	21	31971073	31971073	+	Missense_Mutation	SNP	C	C	A	rs578174949	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31971073C>A	ENST00000334897.3	-	1	146	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	41						intermediate filament (GO:0005882)		p.G41C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCATGACCATAGCCACAG	0.557																																							uc011adc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GGT>TGT		keratin associated protein 6-2							116.0	98.0	104.0					21																	31971073		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971073C>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.121G>T	21.37:g.31971073C>A	ENSP00000334560:p.Gly41Cys					KRTAP22-1_uc011add.1_5'Flank	p.G41C	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			1	121	-			41						Missense_Mutation	SNP	ENST00000334897.3	37	c.121G>T	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.794005	0.16327	.	.	ENSG00000186930	ENST00000334897	T	0.43688	0.94	4.0	3.1	0.35709	.	0.000000	0.35207	U	0.003364	T	0.44180	0.1281	.	.	.	0.27564	N	0.950096	P	0.46952	0.887	P	0.48815	0.591	T	0.38845	-0.9642	9	0.87932	D	0	.	9.2032	0.37272	0.2158:0.7842:0.0:0.0	.	41	Q3LI66	KRA62_HUMAN	C	41	ENSP00000334560:G41C	ENSP00000334560:G41C	G	-	1	0	KRTAP6-2	30892944	0.839000	0.29477	0.998000	0.56505	0.613000	0.37349	1.013000	0.29937	1.241000	0.43820	0.650000	0.86243	GGT		0.557	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			6	35	1	0	2.17888e-05	0.006214	2.56155e-05	6	35				
KRTAP20-1	337975	broad.mit.edu	37	21	31988931	31988931	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31988931A>T	ENST00000334664.2	+	1	182	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	53						intermediate filament (GO:0005882)		p.Y53F(1)		breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TATTGGTCATATGGTTTCTAC	0.438																																							uc011ade.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(157-159)TAT>TTT		keratin associated protein 20-1							228.0	204.0	212.0					21																	31988931		2203	4300	6503	SO:0001583	missense	337975					intermediate filament		g.chr21:31988931A>T	AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.158A>T	21.37:g.31988931A>T	ENSP00000335503:p.Tyr53Phe					KRTAP6-1_uc002yop.2_5'Flank	p.Y53F	NM_181615	NP_853646	Q3LI63	KR201_HUMAN			1	158	+			53						Missense_Mutation	SNP	ENST00000334664.2	37	c.158A>T	CCDS13603.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434942	0.25813	.	.	ENSG00000244624	ENST00000334664	T	0.24538	1.85	4.1	-8.2	0.01045	.	0.598323	0.12565	U	0.457872	T	0.12433	0.0302	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.18618	-1.0331	9	0.87932	D	0	.	2.7707	0.05333	0.2072:0.357:0.319:0.1169	.	53	Q3LI63	KR201_HUMAN	F	53	ENSP00000335503:Y53F	ENSP00000335503:Y53F	Y	+	2	0	KRTAP20-1	30910802	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-1.123000	0.03263	-1.927000	0.01060	-0.317000	0.08691	TAT		0.438	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128253.3			9	103	0	0	0	0.008291	0	9	103				
TIAM1	7074	broad.mit.edu	37	21	32589888	32589888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:32589888C>A	ENST00000286827.3	-	10	2594	c.2123G>T	c.(2122-2124)gGa>gTa	p.G708V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.G708V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	708					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.G708V(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						GCTTGGCCGTCCCTGCTTCTT	0.517																																							uc002yow.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2122-2124)GGA>GTA		T-cell lymphoma invasion and metastasis 1							188.0	168.0	175.0					21																	32589888		2203	4300	6503	SO:0001583	missense	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.chr21:32589888C>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.2123G>T	21.37:g.32589888C>A	ENSP00000286827:p.Gly708Val					TIAM1_uc011adk.1_Missense_Mutation_p.G708V|TIAM1_uc011adl.1_Missense_Mutation_p.G708V|TIAM1_uc002yox.1_Missense_Mutation_p.G316V	p.G708V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			10	2595	-			708					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2123G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800338	0.50315	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.33654	1.4;1.4	5.41	5.41	0.78517	.	0.184835	0.46145	D	0.000306	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D;P;D	0.59767	0.98;0.986;0.883;0.986	P;P;B;P	0.52217	0.693;0.593;0.36;0.593	T	0.28427	-1.0044	10	0.45353	T	0.12	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	708;708;549;708	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	V	708;549;708	ENSP00000286827:G708V;ENSP00000441570:G708V	ENSP00000286827:G708V	G	-	2	0	TIAM1	31511759	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.884000	0.63135	2.803000	0.96430	0.655000	0.94253	GGA		0.517	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		28	203	1	0	2.85442e-18	0.002096	5.03359e-18	28	203				
SON	6651	broad.mit.edu	37	21	34922655	34922655	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:34922655A>G	ENST00000356577.4	+	3	1593	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	SON_ENST00000381679.4_Missense_Mutation_p.Q373R|SON_ENST00000290239.6_Missense_Mutation_p.Q373R|SON_ENST00000300278.4_Missense_Mutation_p.Q373R|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	373					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q373R(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTGGAGCTGCAGGAGTCGTCG	0.617																																							uc002yse.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1117-1119)CAG>CGG		SON DNA-binding protein isoform F							85.0	92.0	90.0					21																	34922655		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922655A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1118A>G	21.37:g.34922655A>G	ENSP00000348984:p.Gln373Arg					SON_uc002ysb.1_Missense_Mutation_p.Q373R|SON_uc002ysc.2_Missense_Mutation_p.Q373R|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.Q373R	NM_138927	NP_620305	P18583	SON_HUMAN			3	1167	+			373					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1118A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726222	0.30593	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12147	2.9;2.89;2.89;2.71	5.43	2.47	0.30058	.	0.351845	0.24864	N	0.034994	T	0.08714	0.0216	N	0.19112	0.55	0.24424	N	0.994608	P;P;P	0.41910	0.764;0.661;0.661	B;B;B	0.37267	0.124;0.245;0.245	T	0.12915	-1.0529	10	0.48119	T	0.1	.	11.6125	0.51069	0.5336:0.4664:0.0:0.0	.	373;373;373	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	R	373	ENSP00000348984:Q373R;ENSP00000290239:Q373R;ENSP00000300278:Q373R;ENSP00000371095:Q373R	ENSP00000290239:Q373R	Q	+	2	0	SON	33844525	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.272000	0.18644	0.283000	0.22279	-0.396000	0.06452	CAG		0.617	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		11	114	0	0	0	0.00245	0	11	114				
ITSN1	6453	broad.mit.edu	37	21	35183306	35183306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:35183306G>T	ENST00000381318.3	+	21	2635	c.2347G>T	c.(2347-2349)Ggc>Tgc	p.G783C	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.G783C|ITSN1_ENST00000437442.2_Missense_Mutation_p.G778C|ITSN1_ENST00000379960.5_Missense_Mutation_p.G778C|ITSN1_ENST00000381291.4_Missense_Mutation_p.G783C|ITSN1_ENST00000399326.3_Missense_Mutation_p.G778C|ITSN1_ENST00000399367.3_Missense_Mutation_p.G778C|ITSN1_ENST00000399353.1_Missense_Mutation_p.G741C|ITSN1_ENST00000399338.4_Missense_Mutation_p.G778C|ITSN1_ENST00000399352.1_Missense_Mutation_p.G778C|ITSN1_ENST00000399349.1_Missense_Mutation_p.G778C|ITSN1_ENST00000381285.4_Missense_Mutation_p.G783C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	783	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G783C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGGAGAACCCGGCTGGCTTGG	0.463																																							uc002yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2347-2349)GGC>TGC		intersectin 1 isoform ITSN-l							93.0	110.0	104.0					21																	35183306		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183306G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2347G>T	21.37:g.35183306G>T	ENSP00000370719:p.Gly783Cys					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G778C|ITSN1_uc010gmg.2_Missense_Mutation_p.G741C|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G783C|ITSN1_uc010gmi.2_Missense_Mutation_p.G746C|ITSN1_uc010gmj.2_Missense_Mutation_p.G662C|ITSN1_uc002ysy.2_Missense_Mutation_p.G778C|ITSN1_uc002ysx.2_Missense_Mutation_p.G741C|ITSN1_uc002ytb.1_Missense_Mutation_p.G778C|ITSN1_uc002ytc.1_Missense_Mutation_p.G778C|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G746C|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G778C|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G717C|ITSN1_uc002ytf.1_RNA	p.G783C	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			21	2615	+			783			SH3 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2347G>T	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.951698|4.951698	0.92660|0.92660	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960|ENST00000440794	T;T;T;T;T;T;T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Src homology-3 domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88362|0.88362	0.6416|0.6416	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.90556|0.90556	0.4512|0.4512	10|5	0.87932|.	D|.	0|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	746;746;741;778;783;778;778;783;778;741|.	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0|.	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.|.	C|L	741;783;783;783;783;778;778;778;783;778;778;778;778;778|17	ENSP00000382290:G741C;ENSP00000370719:G783C;ENSP00000370691:G783C;ENSP00000370685:G783C;ENSP00000382301:G778C;ENSP00000382289:G778C;ENSP00000382292:G783C;ENSP00000382286:G778C;ENSP00000382275:G778C;ENSP00000387377:G778C;ENSP00000382265:G778C;ENSP00000369294:G778C|.	ENSP00000369294:G778C|.	G|R	+|+	1|2	0|0	ITSN1|ITSN1	34105176|34105176	1.000000|1.000000	0.71417|0.71417	0.842000|0.842000	0.33263|0.33263	0.990000|0.990000	0.78478|0.78478	9.441000|9.441000	0.97557|0.97557	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGC|CGG		0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		27	226	1	0	3.65163e-15	0.00632	6.08502e-15	27	226				
ITSN1	6453	broad.mit.edu	37	21	35199148	35199148	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:35199148G>T	ENST00000381318.3	+	26	3498	c.3210G>T	c.(3208-3210)ggG>ggT	p.G1070G	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000437442.2_Silent_p.G1065G|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Silent_p.G1070G|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.E1010*|ITSN1_ENST00000399367.3_Silent_p.G1065G|ITSN1_ENST00000399353.1_Silent_p.G1028G|ITSN1_ENST00000399352.1_Silent_p.G1065G|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000381285.4_Silent_p.G1070G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1070					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1070G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACAGGGAGTTTAGGAA	0.378																																							uc002yta.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3208-3210)GGG>GGT		intersectin 1 isoform ITSN-l							89.0	89.0	89.0					21																	35199148		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35199148G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3210G>T	21.37:g.35199148G>T						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Silent_p.G1070G|ITSN1_uc010gmi.2_Silent_p.G1033G|ITSN1_uc010gmj.2_Silent_p.G949G|ITSN1_uc002ysy.2_Silent_p.G1065G|ITSN1_uc002ysx.2_Silent_p.G1028G|ITSN1_uc002ytb.1_Silent_p.G1065G|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Intron|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Silent_p.G1065G|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Intron|ITSN1_uc002ytg.1_Nonsense_Mutation_p.E68*|ITSN1_uc002yti.1_5'Flank	p.G1070G	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			26	3478	+			1070					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3210G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	40	8.008812	0.98607	.	.	ENSG00000205726	ENST00000399326	.	.	.	5.87	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.9347	0.13935	0.1525:0.2097:0.6378:0.0	.	.	.	.	X	1010	.	ENSP00000382265:E1010X	E	+	1	0	ITSN1	34121018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.606000	0.46291	1.604000	0.50143	0.655000	0.94253	GAG		0.378	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	81	1	0	0.000157383	0.00308	0.000177598	6	81				
AGPAT3	56894	broad.mit.edu	37	21	45402211	45402211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:45402211G>T	ENST00000398063.2	+	9	1561	c.1069G>T	c.(1069-1071)Gga>Tga	p.G357*	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.G357*	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	357					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.G357*(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CAGACTGATAGGAGTAACTGA	0.458																																					Pancreas(60;623 1650 5574 52796)	Pancreas(60;623 1650 5574 52796)	uc002zdv.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1069-1071)GGA>TGA		1-acylglycerol-3-phosphate O-acyltransferase 3							147.0	158.0	154.0					21																	45402211		2203	4300	6503	SO:0001587	stop_gained	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402211G>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1069G>T	21.37:g.45402211G>T	ENSP00000381140:p.Gly357*					AGPAT3_uc002zdw.2_Nonsense_Mutation_p.G357*|AGPAT3_uc002zdx.2_Nonsense_Mutation_p.G444*|AGPAT3_uc002zdy.2_Nonsense_Mutation_p.G295*	p.G357*	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	10	1291	+			357			Cytoplasmic (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Nonsense_Mutation	SNP	ENST00000398063.2	37	c.1069G>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	37	6.211413	0.97380	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-13.3838	17.7067	0.88310	0.0:0.0:1.0:0.0	.	.	.	.	X	357	.	ENSP00000291572:G357X	G	+	1	0	AGPAT3	44226639	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.847000	0.75404	2.409000	0.81822	0.563000	0.77884	GGA		0.458	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		49	294	1	0	2.31418e-15	0.00361	3.89257e-15	49	294				
PFKL	5211	broad.mit.edu	37	21	45745937	45745937	+	Missense_Mutation	SNP	C	C	T	rs374183792		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:45745937C>T	ENST00000349048.4	+	20	2138	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	PFKL_ENST00000403390.1_Missense_Mutation_p.R742C|AP001062.8_ENST00000422357.1_RNA	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	695	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.R742C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGAGGTTTACCGCAAGGGTAG	0.642																																							uc002zel.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2083-2085)CGC>TGC		liver phosphofructokinase		C	CYS/ARG	0,4404		0,0,2202	84.0	76.0	79.0		2083	4.6	1.0	21		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	PFKL	NM_002626.4	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	695/781	45745937	1,13003	2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745937C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2083C>T	21.37:g.45745937C>T	ENSP00000269848:p.Arg695Cys					PFKL_uc002zek.2_Missense_Mutation_p.R742C|PFKL_uc002zem.2_Missense_Mutation_p.R282C|PFKL_uc002zen.2_Missense_Mutation_p.R282C	p.R695C	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	20	2142	+			695					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.2083C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486116	0.63962	0.0	1.16E-4	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.81247	-1.45;-1.47	4.59	4.59	0.56863	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;D	0.68943	0.772;0.961	D	0.88536	0.3106	10	0.66056	D	0.02	-31.241	11.4365	0.50070	0.1808:0.8192:0.0:0.0	.	695;742	P17858;P17858-2	K6PL_HUMAN;.	C	695;488;742	ENSP00000269848:R695C;ENSP00000384038:R742C	ENSP00000269848:R695C	R	+	1	0	PFKL	44570365	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.166000	0.42406	2.117000	0.64856	0.591000	0.81541	CGC		0.642	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			8	39	0	0	0	0.004482	0	8	39				
KRTAP10-10	353333	broad.mit.edu	37	21	46057504	46057504	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:46057504G>T	ENST00000380095.1	+	1	232	c.170G>T	c.(169-171)tGt>tTt	p.C57F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	57	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C57F(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CAGACGGCCTGTGAGCCCAGC	0.667																																							uc002zfq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)TGT>TTT		keratin associated protein 10-10							59.0	65.0	63.0					21																	46057504		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057504G>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.170G>T	21.37:g.46057504G>T	ENSP00000369438:p.Cys57Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C57F	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	232	+			57			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.170G>T	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	g	5.064	0.197418	0.09599	.	.	ENSG00000221859	ENST00000380095	T	0.03831	3.79	1.8	1.8	0.24995	.	.	.	.	.	T	0.21227	0.0511	M	0.91663	3.23	0.09310	N	1	D	0.58970	0.984	P	0.62435	0.902	T	0.03433	-1.1037	9	0.87932	D	0	.	7.1391	0.25546	0.0:0.0:1.0:0.0	.	57	P60014	KR10A_HUMAN	F	57	ENSP00000369438:C57F	ENSP00000369438:C57F	C	+	2	0	KRTAP10-10	44881932	0.225000	0.23685	0.024000	0.17045	0.046000	0.14306	0.643000	0.24750	0.657000	0.30906	0.313000	0.20887	TGT		0.667	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		9	90	1	0	4.36969e-10	0.001855	6.27247e-10	9	90				
COL18A1	80781	broad.mit.edu	37	21	46888412	46888412	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:46888412G>T	ENST00000359759.4	+	2	1629	c.1608G>T	c.(1606-1608)ctG>ctT	p.L536L	COL18A1_ENST00000400337.2_Silent_p.L121L|COL18A1_ENST00000355480.5_Silent_p.L301L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	536	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.L301L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGTCTTGCTGGGCGTGAAGC	0.647																																							uc011afs.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1606-1608)CTG>CTT		alpha 1 type XVIII collagen isoform 3 precursor							70.0	84.0	79.0					21																	46888412		2163	4255	6418	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888412G>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1608G>T	21.37:g.46888412G>T						COL18A1_uc002zhg.2_Silent_p.L121L|COL18A1_uc002zhi.2_Silent_p.L301L	p.L536L	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1629	+			536			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1608G>T																																																																																					0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			16	147	1	0	6.94344e-10	0.006122	9.90913e-10	16	147				
PCNT	5116	broad.mit.edu	37	21	47754562	47754562	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47754562A>T	ENST00000359568.5	+	3	626	c.519A>T	c.(517-519)acA>acT	p.T173T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	173					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.T173T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGATGTTCACAATCAGTGACC	0.542																																							uc002zji.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(517-519)ACA>ACT		pericentrin							212.0	140.0	164.0					21																	47754562		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754562A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.519A>T	21.37:g.47754562A>T						PCNT_uc002zjj.2_Silent_p.T55T|PCNT_uc010gqk.1_RNA	p.T173T	NM_006031	NP_006022	O95613	PCNT_HUMAN			3	626	+	Breast(49;0.112)		173					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.519A>T	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	132	0	0	0	0.00278	0	20	132				
PCNT	5116	broad.mit.edu	37	21	47851463	47851463	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47851463G>A	ENST00000359568.5	+	38	8192	c.8085G>A	c.(8083-8085)gaG>gaA	p.E2695E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2695					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E2695E(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGTCTTTGGAGACACAGCGTG	0.527																																							uc002zji.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(8083-8085)GAG>GAA		pericentrin							61.0	61.0	61.0					21																	47851463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851463G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8085G>A	21.37:g.47851463G>A						PCNT_uc002zjj.2_Silent_p.E2577E	p.E2695E	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8192	+	Breast(49;0.112)		2695			Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8085G>A	CCDS33592.1																																																																																				0.527	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		10	98	0	0	0	0.008291	0	10	98				
DIP2A	23181	broad.mit.edu	37	21	47987386	47987386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47987386G>T	ENST00000417564.2	+	38	4588	c.4567G>T	c.(4567-4569)Gag>Tag	p.E1523*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E1519*|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.E1524*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1523					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E1523*(1)|p.E1524*(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGTGGTGCTGGAGGAGCACTA	0.632																																							uc002zjo.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(4567-4569)GAG>TAG		disco-interacting protein 2A isoform a							89.0	99.0	96.0					21																	47987386		2203	4300	6503	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987386G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4567G>T	21.37:g.47987386G>T	ENSP00000392066:p.Glu1523*					DIP2A_uc011afz.1_Nonsense_Mutation_p.E1519*|DIP2A_uc002zjs.2_Nonsense_Mutation_p.E203*|DIP2A_uc002zjt.2_RNA	p.E1523*	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	38	4750	+	Breast(49;0.0933)		1523					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.4567G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.950551	0.99708	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-36.6274	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	1519;1524;1523	.	ENSP00000323633:E1524X	E	+	1	0	DIP2A	46811814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.689000	0.98673	2.748000	0.94277	0.655000	0.94253	GAG		0.632	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		10	51	1	0	1.5842e-08	0.001855	2.15163e-08	10	51				
TRMT2A	27037	broad.mit.edu	37	22	20100126	20100126	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:20100126T>C	ENST00000252136.7	-	12	2226	c.1838A>G	c.(1837-1839)gAt>gGt	p.D613G	TRMT2A_ENST00000492988.1_5'Flank|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000439169.2_Missense_Mutation_p.D631G|TRMT2A_ENST00000404751.3_3'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.D613G	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	613					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.D613G(1)		breast(2)|endometrium(2)|lung(5)	9						TAGGGTGTTATCTGGGGGTCC	0.622																																							uc002zrk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1837-1839)GAT>GGT		HpaII tiny fragments locus 9C							54.0	55.0	55.0					22																	20100126		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100126T>C	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1838A>G	22.37:g.20100126T>C	ENSP00000252136:p.Asp613Gly					TRMT2A_uc002zrl.1_Missense_Mutation_p.D613G|TRMT2A_uc002zrm.1_Missense_Mutation_p.D435G|TRMT2A_uc002zrn.1_Missense_Mutation_p.D631G	p.D613G	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			13	2053	-			613					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.1838A>G	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.58|11.58	1.680542|1.680542	0.29872|0.29872	.|.	.|.	ENSG00000099899|ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000444845;ENST00000439169|ENST00000444256	T;T;T;T|.	0.49720|.	0.77;0.77;0.8;0.77|.	5.02|5.02	-0.11|-0.11	0.13580|0.13580	.|.	2.131500|.	0.01723|.	N|.	0.028429|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.26608|0.26608	-1.0098|-1.0098	10|5	0.22706|.	T|.	0.39|.	1.447|1.447	4.4708|4.4708	0.11712|0.11712	0.0:0.3018:0.2147:0.4836|0.0:0.3018:0.2147:0.4836	.|.	631;613|.	F2Z2W7;Q8IZ69|.	.;TRM2A_HUMAN|.	G|V	613;613;146;631|131	ENSP00000252136:D613G;ENSP00000385807:D613G;ENSP00000397744:D146G;ENSP00000395738:D631G|.	ENSP00000252136:D613G|.	D|I	-|-	2|1	0|0	TRMT2A|TRMT2A	18480126|18480126	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.133000|-0.133000	0.10451|0.10451	-0.169000|-0.169000	0.10834|0.10834	0.459000|0.459000	0.35465|0.35465	GAT|ATA		0.622	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		17	66	0	0	0	0.007413	0	17	66				
PI4KA	5297	broad.mit.edu	37	22	21157610	21157610	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:21157610T>A	ENST00000572273.1	-	13	1518		c.e13-2		PI4KA_ENST00000255882.6_Splice_Site			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.?(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCCCAAACCCTGCAACACACC	0.597																																					GBM(136;1332 1831 3115 23601 50806)	GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	2	Unknown(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.e13-1		phosphatidylinositol 4-kinase type 3 alpha							115.0	92.0	100.0					22																	21157610		2203	4300	6503	SO:0001630	splice_region_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21157610T>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1288-2A>T	22.37:g.21157610T>A						PI4KA_uc010gsq.1_Splice_Site_p.G488_splice	p.G430_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		13	1519	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)						Q7Z625|Q9UPG2	Splice_Site	SNP	ENST00000572273.1	37	c.1288_splice		.	.	.	.	.	.	.	.	.	.	T	27.2	4.806305	0.90623	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6457	0.68759	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PI4KA	19487610	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.859000	0.86982	2.047000	0.60756	0.402000	0.26972	.		0.597	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Intron	13	124	0	0	0	0.004007	0	13	124				
PRAME	23532	broad.mit.edu	37	22	22890546	22890546	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22890546C>A	ENST00000398741.1	-	6	1779	c.1473G>T	c.(1471-1473)ggG>ggT	p.G491G	PRAME_ENST00000543184.1_Silent_p.G491G|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000424204.2_Silent_p.G475G|PRAME_ENST00000402697.1_Silent_p.G491G|PRAME_ENST00000398743.2_Silent_p.G491G|PRAME_ENST00000405655.3_Silent_p.G491G|PRAME_ENST00000539862.1_Silent_p.G475G	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	491	Mediates interaction with RARA.				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.G491G(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)		AGGTTCTGTCCCCACAGTGAG	0.557																																					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.(1471-1473)GGG>GGT		preferentially expressed antigen in melanoma							143.0	137.0	139.0					22																	22890546		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.chr22:22890546C>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.1473G>T	22.37:g.22890546C>A						LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.G475G|PRAME_uc010gtr.2_Silent_p.G491G|PRAME_uc002zwg.2_Silent_p.G491G|PRAME_uc002zwh.2_Silent_p.G491G|PRAME_uc002zwi.2_Silent_p.G491G|PRAME_uc002zwj.2_Silent_p.G491G|PRAME_uc002zwk.2_Silent_p.G491G	p.G491G	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1629	-	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)	491			Mediates interaction with RARA.		B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.1473G>T	CCDS13801.1																																																																																				0.557	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		36	296	1	0	1.36161e-19	0.004289	2.44494e-19	36	296				
PRAME	23532	broad.mit.edu	37	22	22892504	22892504	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22892504C>T	ENST00000398741.1	-	5	903	c.597G>A	c.(595-597)gtG>gtA	p.V199V	PRAME_ENST00000543184.1_Silent_p.V199V|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000424204.2_Silent_p.V183V|PRAME_ENST00000402697.1_Silent_p.V199V|PRAME_ENST00000398743.2_Silent_p.V199V|PRAME_ENST00000405655.3_Silent_p.V199V|PRAME_ENST00000539862.1_Silent_p.V183V	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	199					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.V199V(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)		TCTTTCGCTTCACTTTCTCAA	0.468																																					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.(595-597)GTG>GTA		preferentially expressed antigen in melanoma							155.0	149.0	151.0					22																	22892504		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.chr22:22892504C>T	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.597G>A	22.37:g.22892504C>T						LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.V183V|PRAME_uc010gtr.2_Silent_p.V199V|PRAME_uc002zwg.2_Silent_p.V199V|PRAME_uc002zwh.2_Silent_p.V199V|PRAME_uc002zwi.2_Silent_p.V199V|PRAME_uc002zwj.2_Silent_p.V199V|PRAME_uc002zwk.2_Silent_p.V199V	p.V199V	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	753	-	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)	199					B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.597G>A	CCDS13801.1																																																																																				0.468	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		35	186	0	0	0	0.007835	0	35	186				
PRAME	23532	broad.mit.edu	37	22	22899246	22899246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22899246G>A	ENST00000398741.1	-	3	313	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PRAME_ENST00000543184.1_Nonsense_Mutation_p.R3*|PRAME_ENST00000406503.1_Nonsense_Mutation_p.R3*|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000424204.2_5'Flank|PRAME_ENST00000402697.1_Nonsense_Mutation_p.R3*|LL22NC03-63E9.3_ENST00000407120.1_5'Flank|PRAME_ENST00000398743.2_Nonsense_Mutation_p.R3*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.R3*|PRAME_ENST00000539862.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	3					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.R3*(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)		AAACGCCTTCGTTCCATTTTG	0.532																																					Melanoma(73;1707 1838 15168 27201)	Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(7-9)CGA>TGA		preferentially expressed antigen in melanoma							174.0	154.0	161.0					22																	22899246		2203	4300	6503	SO:0001587	stop_gained	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.chr22:22899246G>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.7C>T	22.37:g.22899246G>A	ENSP00000381726:p.Arg3*					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_5'Flank|PRAME_uc010gtr.2_Nonsense_Mutation_p.R3*|PRAME_uc002zwg.2_Nonsense_Mutation_p.R3*|PRAME_uc002zwh.2_Nonsense_Mutation_p.R3*|PRAME_uc002zwi.2_Nonsense_Mutation_p.R3*|PRAME_uc002zwj.2_Nonsense_Mutation_p.R3*|PRAME_uc002zwk.2_Nonsense_Mutation_p.R3*|LOC648691_uc011ais.1_5'Flank	p.R3*	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	2	163	-	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)	3					B2R6Y7|O43481|Q8IXN8	Nonsense_Mutation	SNP	ENST00000398741.1	37	c.7C>T	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.720432	0.89205	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000402697;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441	.	.	.	2.78	-4.4	0.03600	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0446	0.14477	0.0:0.3012:0.1823:0.5165	.	.	.	.	X	3	.	ENSP00000381726:R3X	R	-	1	2	PRAME	21229246	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	-0.582000	0.05814	-1.008000	0.03404	-0.300000	0.09419	CGA		0.532	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		42	182	0	0	0	0.009718	0	42	182				
SEZ6L	23544	broad.mit.edu	37	22	26688679	26688679	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:26688679C>G	ENST00000248933.6	+	2	497	c.402C>G	c.(400-402)ccC>ccG	p.P134P	SEZ6L_ENST00000404234.3_Silent_p.P134P|SEZ6L_ENST00000360929.3_Silent_p.P134P|SEZ6L_ENST00000529632.2_Silent_p.P134P|SEZ6L_ENST00000343706.4_Silent_p.P134P|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	134					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.P134P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGCTGAGGCCCAAGGCCACCT	0.662																																							uc003acb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(400-402)CCC>CCG		seizure related 6 homolog (mouse)-like							38.0	32.0	34.0					22																	26688679		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688679C>G	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.402C>G	22.37:g.26688679C>G						SEZ6L_uc003acc.2_Silent_p.P134P|SEZ6L_uc011akc.1_Silent_p.P134P|SEZ6L_uc003acd.2_Silent_p.P134P|SEZ6L_uc011akd.1_Silent_p.P134P|SEZ6L_uc003ace.2_Silent_p.P134P|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	p.P134P	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			2	558	+			134			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.402C>G	CCDS13833.1																																																																																				0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			9	40	0	0	0	0.004482	0	9	40				
CRYBB1	1414	broad.mit.edu	37	22	26995455	26995455	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:26995455C>T	ENST00000215939.2	-	6	888	c.758G>A	c.(757-759)tGa>tAa	p.*253*	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	0					visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.*253*(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGTGTGGACTCACTTGGGGGG	0.542																																							uc003acy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(757-759)TGA>TAA		crystallin, beta B1							66.0	63.0	64.0					22																	26995455		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995455C>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.758G>A	22.37:g.26995455C>T							p.*253*	NM_001887	NP_001878	P53674	CRBB1_HUMAN			6	828	-			253						Silent	SNP	ENST00000215939.2	37	c.758G>A	CCDS13840.1																																																																																				0.542	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		11	148	0	0	0	0.001855	0	11	148				
CRYBB1	1414	broad.mit.edu	37	22	27008146	27008146	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:27008146G>A	ENST00000215939.2	-	3	319	c.189C>T	c.(187-189)gtC>gtT	p.V63V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	63	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.V63V(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCAGTTCGAAGACCACCAGCT	0.532																																							uc003acy.1		NA																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(187-189)GTC>GTT		crystallin, beta B1							54.0	49.0	50.0					22																	27008146		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:27008146G>A		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.189C>T	22.37:g.27008146G>A							p.V63V	NM_001887	NP_001878	P53674	CRBB1_HUMAN			3	259	-			63			Beta/gamma crystallin 'Greek key' 1.			Silent	SNP	ENST00000215939.2	37	c.189C>T	CCDS13840.1																																																																																				0.532	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		7	81	0	0	0	0.001984	0	7	81				
SEC14L3	266629	broad.mit.edu	37	22	30857304	30857304	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:30857304G>A	ENST00000215812.4	-	11	1164	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	SEC14L3_ENST00000401751.1_Silent_p.A299A|SEC14L3_ENST00000402286.1_Silent_p.A281A|SEC14L3_ENST00000403066.1_Silent_p.A299A|SEC14L3_ENST00000540910.1_Silent_p.A281A|SEC14L3_ENST00000539629.1_Silent_p.A299A|SEC14L3_ENST00000415957.2_Silent_p.A299A	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	358	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A358A(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TACAGACGCCGGCCTCTGAGC	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1072-1074)GCC>GCT		SEC14-like 3	Vitamin E(DB00163)						82.0	80.0	80.0					22																	30857304		2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857304G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1074C>T	22.37:g.30857304G>A						SEC14L3_uc003ahz.2_Silent_p.A281A|SEC14L3_uc003aia.2_Silent_p.A299A|SEC14L3_uc003aib.2_Silent_p.A299A	p.A358A	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			11	1163	-			358			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.1074C>T	CCDS13877.1																																																																																				0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		18	178	0	0	0	0.005443	0	18	178				
GAL3ST1	9514	broad.mit.edu	37	22	30951365	30951365	+	Missense_Mutation	SNP	C	C	A	rs560164540		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:30951365C>A	ENST00000402321.1	-	3	1164	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D283Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	283					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.D283Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACGGGCGAGTCGCGGCGGGCG	0.647																																							uc003aig.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GAC>TAC		galactose-3-O-sulfotransferase 1							33.0	38.0	36.0					22																	30951365		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951365C>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.847G>T	22.37:g.30951365C>A	ENSP00000385735:p.Asp283Tyr					GAL3ST1_uc003aih.1_Missense_Mutation_p.D283Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.D283Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.D283Y	p.D283Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	987	-			283			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.847G>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906656	0.72868	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.37	4.33	0.51752	.	0.258733	0.43919	D	0.000506	T	0.19005	0.0456	N	0.11560	0.145	0.80722	D	1	D	0.55385	0.971	P	0.56398	0.797	T	0.10989	-1.0606	10	0.45353	T	0.12	-24.058	15.5345	0.75993	0.0:0.8609:0.1391:0.0	.	283	Q99999	G3ST1_HUMAN	Y	283	ENSP00000385825:D283Y;ENSP00000385735:D283Y;ENSP00000384122:D283Y;ENSP00000384388:D283Y;ENSP00000343234:D283Y;ENSP00000385207:D283Y;ENSP00000402587:D283Y	ENSP00000343234:D283Y	D	-	1	0	GAL3ST1	29281365	1.000000	0.71417	0.591000	0.28745	0.798000	0.45092	5.966000	0.70395	1.228000	0.43614	0.561000	0.74099	GAC		0.647	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	36	1	0	3.62473e-10	0.001882	5.22599e-10	6	36				
PLA2G3	50487	broad.mit.edu	37	22	31533822	31533822	+	Missense_Mutation	SNP	G	G	C	rs149172730		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:31533822G>C	ENST00000215885.3	-	4	1192	c.940C>G	c.(940-942)Cat>Gat	p.H314D		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	314					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.H314D(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTTTCTGATGTGGTGGCCCC	0.667																																							uc003aka.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(940-942)CAT>GAT		phospholipase A2, group III precursor							109.0	121.0	117.0					22																	31533822		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533822G>C	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.940C>G	22.37:g.31533822G>C	ENSP00000215885:p.His314Asp						p.H314D	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			4	1069	-			314					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.940C>G	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169647	0.21621	.	.	ENSG00000100078	ENST00000215885	T	0.11277	2.79	4.76	3.71	0.42584	.	0.885929	0.09922	N	0.738299	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.32370	T	0.25	-2.5716	11.4604	0.50206	0.0:0.3517:0.6483:0.0	.	314	Q9NZ20	PA2G3_HUMAN	D	314	ENSP00000215885:H314D	ENSP00000215885:H314D	H	-	1	0	PLA2G3	29863822	0.006000	0.16342	0.007000	0.13788	0.018000	0.09664	0.392000	0.20801	1.304000	0.44892	0.655000	0.94253	CAT		0.667	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		32	254	0	0	0	0.004878	0	32	254				
C22orf42	150297	broad.mit.edu	37	22	32546305	32546305	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:32546305C>A	ENST00000382097.3	-	7	727		c.e7+1		C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42									p.?(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATGCATCTTACCATCTCCGGT	0.383																																							uc003amd.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e7+1		chromosome 22 open reading frame 42							111.0	106.0	108.0					22																	32546305		2203	4300	6503	SO:0001630	splice_region_variant	150297							g.chr22:32546305C>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.654+1G>T	22.37:g.32546305C>A							p.M218_splice	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			7	695	-								A4QPH5	Splice_Site	SNP	ENST00000382097.3	37	c.654_splice	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	c	1.061	-0.673007	0.03403	.	.	ENSG00000205856	ENST00000382097	.	.	.	0.767	-0.41	0.12374	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1445	0.06467	0.0:0.6543:0.0:0.3457	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf42	30876305	0.002000	0.14202	0.003000	0.11579	0.054000	0.15201	-0.478000	0.06575	-0.094000	0.12374	0.173000	0.16961	.		0.383	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	Intron	29	161	1	0	6.38683e-12	0.008361	9.78916e-12	29	161				
ISX	91464	broad.mit.edu	37	22	35481642	35481642	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:35481642C>T	ENST00000308700.6	+	4	1646	c.694C>T	c.(694-696)Cct>Tct	p.P232S	ISX_ENST00000404699.2_Missense_Mutation_p.P232S	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	232					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P232S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATCCTTCCACCTCCACACCC	0.547																																							uc003anj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(694-696)CCT>TCT		intestine-specific homeobox							198.0	131.0	154.0					22																	35481642		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35481642C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.694C>T	22.37:g.35481642C>T	ENSP00000311492:p.Pro232Ser					ISX_uc011amg.1_Missense_Mutation_p.P220S	p.P232S	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			4	1645	+			232					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.694C>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851695	0.32699	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90444	-2.67;-2.67	5.14	4.13	0.48395	.	0.141742	0.32952	N	0.005454	D	0.84665	0.5522	L	0.38531	1.155	0.09310	N	1	D	0.56968	0.978	P	0.47134	0.539	T	0.75124	-0.3428	10	0.06494	T	0.89	.	9.2833	0.37742	0.0:0.9011:0.0:0.0989	.	232	Q2M1V0	ISX_HUMAN	S	232	ENSP00000311492:P232S;ENSP00000386037:P232S	ENSP00000311492:P232S	P	+	1	0	ISX	33811642	0.000000	0.05858	0.060000	0.19600	0.180000	0.23129	-0.098000	0.11024	1.156000	0.42514	0.655000	0.94253	CCT		0.547	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		24	139	0	0	0	0.00278	0	24	139				
HMGXB4	10042	broad.mit.edu	37	22	35679974	35679974	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:35679974C>T	ENST00000216106.5	+	6	1363	c.1235C>T	c.(1234-1236)tCg>tTg	p.S412L	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S303L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	412					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.S412L(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAACATGTCGGCCTACCAG	0.418																																							uc003anl.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1234-1236)TCG>TTG		high-mobility group protein 2-like 1							176.0	151.0	160.0					22																	35679974		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35679974C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1235C>T	22.37:g.35679974C>T	ENSP00000216106:p.Ser412Leu					HMGXB4_uc003ank.2_Missense_Mutation_p.S303L	p.S412L	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			6	1409	+			412			HMG box.		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1235C>T	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370370	0.95900	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	D;D	0.98717	-5.09;-5.09	5.42	5.42	0.78866	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.175190	0.50627	D	0.000109	D	0.98801	0.9596	M	0.62209	1.925	0.58432	D	0.999999	D	0.71674	0.998	P	0.62885	0.908	D	0.99878	1.1107	10	0.66056	D	0.02	-9.0376	19.2121	0.93760	0.0:1.0:0.0:0.0	.	412	Q9UGU5	HMGX4_HUMAN	L	303;412	ENSP00000398302:S303L;ENSP00000216106:S412L	ENSP00000216106:S412L	S	+	2	0	HMGXB4	34009974	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	7.571000	0.82399	2.540000	0.85666	0.655000	0.94253	TCG		0.418	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		18	65	0	0	0	0.001882	0	18	65				
C1QTNF6	114904	broad.mit.edu	37	22	37578327	37578327	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:37578327C>A	ENST00000337843.2	-	3	813	c.738G>T	c.(736-738)gtG>gtT	p.V246V	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.V122V|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.V246V	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	227	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.V246V(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAAGAGCCGCACCCAGACGC	0.617																																							uc003aqw.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)GTG>GTT		C1q and tumor necrosis factor related protein 6							73.0	62.0	66.0					22																	37578327		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578327C>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.738G>T	22.37:g.37578327C>A						C1QTNF6_uc003aqx.1_Silent_p.V246V|C1QTNF6_uc003aqy.1_Silent_p.V246V|C1QTNF6_uc003aqz.1_RNA	p.V227V	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	1186	-			227			C1q.		Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.681G>T	CCDS13943.1																																																																																				0.617	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		17	55	1	0	4.14922e-12	0.004007	6.38441e-12	17	55				
GTPBP1	9567	broad.mit.edu	37	22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:39112749G>A	ENST00000216044.5	+	4	811	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R193H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557																																							uc003awg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)CGC>CAC		GTP binding protein 1							57.0	55.0	56.0					22																	39112749		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112749G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.578G>A	22.37:g.39112749G>A	ENSP00000216044:p.Arg193His						p.R193H	NM_004286	NP_004277	O00178	GTPB1_HUMAN			4	732	+	Melanoma(58;0.04)		193					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.578G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.341713	0.95783	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	5.25	5.25	0.73442	Protein synthesis factor, GTP-binding (1);	0.053428	0.85682	D	0.000000	D	0.90120	0.6913	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.93653	0.6975	10	0.87932	D	0	.	18.8294	0.92132	0.0:0.0:1.0:0.0	.	193	O00178	GTPB1_HUMAN	H	193;112	ENSP00000216044:R193H;ENSP00000442881:R112H	ENSP00000216044:R193H	R	+	2	0	GTPBP1	37442695	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.747000	0.98863	2.436000	0.82500	0.551000	0.68910	CGC		0.557	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		22	77	0	0	0	0.010504	0	22	77				
TAB1	10454	broad.mit.edu	37	22	39813767	39813767	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:39813767C>A	ENST00000216160.6	+	5	525	c.463C>A	c.(463-465)Ctc>Atc	p.L155I	TAB1_ENST00000331454.3_Missense_Mutation_p.L155I	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	155	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)	p.L155I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCTTGAGAGACTCAAGACGTT	0.562																																							uc003axt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(463-465)CTC>ATC		mitogen-activated protein kinase kinase kinase 7							89.0	82.0	84.0					22																	39813767		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39813767C>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.463C>A	22.37:g.39813767C>A	ENSP00000216160:p.Leu155Ile					TAB1_uc003axr.2_Missense_Mutation_p.L231I|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.L155I	p.L155I	NM_006116	NP_006107	Q15750	TAB1_HUMAN			5	512	+			155			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.463C>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721304	0.68959	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.17528	2.27;2.27	5.45	5.45	0.79879	Protein phosphatase 2C-like (4);	0.298737	0.32357	N	0.006204	T	0.29524	0.0736	L	0.39467	1.215	0.58432	D	0.999999	P;D;D	0.65815	0.874;0.987;0.995	P;D;D	0.85130	0.819;0.996;0.997	T	0.01071	-1.1461	10	0.30078	T	0.28	.	10.4242	0.44367	0.0:0.8808:0.0:0.1192	.	155;155;299	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	I	155	ENSP00000216160:L155I;ENSP00000333049:L155I	ENSP00000216160:L155I	L	+	1	0	TAB1	38143713	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	1.429000	0.34903	2.553000	0.86117	0.655000	0.94253	CTC		0.562	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		15	100	1	0	6.31663e-08	0.003163	8.32627e-08	15	100				
CACNA1I	8911	broad.mit.edu	37	22	40037036	40037036	+	Missense_Mutation	SNP	A	A	T	rs59635914	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:40037036A>T	ENST00000402142.3	+	6	905	c.905A>T	c.(904-906)gAc>gTc	p.D302V	CACNA1I_ENST00000400164.3_Missense_Mutation_p.D302V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D302V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D302V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.D302V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D302V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D302V(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GACGTCTACGACTTTGGGGCG	0.632																																							uc003ayc.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(904-906)GAC>GTC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						59.0	65.0	63.0					22																	40037036		2042	4192	6234	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037036A>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.905A>T	22.37:g.40037036A>T	ENSP00000385019:p.Asp302Val					CACNA1I_uc003ayd.2_Missense_Mutation_p.D302V|CACNA1I_uc003aye.2_Missense_Mutation_p.D217V|CACNA1I_uc003ayf.2_Missense_Mutation_p.D217V	p.D302V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			6	905	+	Melanoma(58;0.0749)		302			I.|Extracellular (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.905A>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219846	0.39201	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96802	-4.1;-4.07;-4.11;-4.08;-4.13;-4.05	5.21	4.18	0.49190	Ion transport (1);	0.304573	0.17240	U	0.181584	D	0.91580	0.7340	L	0.41824	1.3	0.46167	D	0.998908	B;P;B;B	0.38195	0.241;0.622;0.372;0.27	B;B;B;B	0.30316	0.058;0.104;0.114;0.085	D	0.89669	0.3882	10	0.27785	T	0.31	.	10.3759	0.44081	0.9231:0.0:0.0769:0.0	.	302;302;302;302	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	V	302	ENSP00000385019:D302V;ENSP00000384093:D302V;ENSP00000383887:D302V;ENSP00000385680:D302V;ENSP00000337829:D302V;ENSP00000383028:D302V	ENSP00000337829:D302V	D	+	2	0	CACNA1I	38366982	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	3.869000	0.56062	1.980000	0.57719	0.460000	0.39030	GAC		0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		8	85	0	0	0	0.006214	0	8	85				
PMM1	5372	broad.mit.edu	37	22	41982110	41982110	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:41982110T>A	ENST00000216259.7	-	2	259	c.175A>T	c.(175-177)Atc>Ttc	p.I59F	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	59					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.I59F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TGCTCAGCGATCTTACAGTAG	0.567																																							uc003bal.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)ATC>TTC		phosphomannomutase 1							96.0	83.0	87.0					22																	41982110		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41982110T>A		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.175A>T	22.37:g.41982110T>A	ENSP00000216259:p.Ile59Phe						p.I59F	NM_002676	NP_002667	Q92871	PMM1_HUMAN			2	237	-			59					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.175A>T	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958202	0.92726	.	.	ENSG00000100417	ENST00000216259	D	0.98684	-5.07	5.18	5.18	0.71444	HAD-like domain (2);	0.054730	0.64402	D	0.000001	D	0.99026	0.9667	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99971	1.2010	10	0.15066	T	0.55	-4.5374	14.7515	0.69530	0.0:0.0:0.0:1.0	.	59	Q92871	PMM1_HUMAN	F	59	ENSP00000216259:I59F	ENSP00000216259:I59F	I	-	1	0	PMM1	40312056	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.792000	0.85828	1.951000	0.56629	0.529000	0.55759	ATC		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		24	211	0	0	0	0.00333	0	24	211				
SEPT3	55964	broad.mit.edu	37	22	42383628	42383628	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:42383628G>T	ENST00000396426.3	+	5	671	c.416G>T	c.(415-417)tGg>tTg	p.W139L	SEPT3_ENST00000328414.8_Missense_Mutation_p.G69W|SEPT3_ENST00000406029.1_Missense_Mutation_p.W75L|SEPT3_ENST00000291236.11_Missense_Mutation_p.W75L|SEPT3_ENST00000396425.3_Missense_Mutation_p.W139L	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	139	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.W139L(3)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCCATCAGCTGGGAGCCCATT	0.488																																							uc003bbr.3		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(415-417)TGG>TTG		septin 3 isoform A							140.0	111.0	121.0					22																	42383628		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42383628G>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.416G>T	22.37:g.42383628G>T	ENSP00000379704:p.Trp139Leu					WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.W139L|SEPT3_uc010gyr.2_Missense_Mutation_p.W75L|SEPT3_uc011apj.1_Missense_Mutation_p.W75L|SEPT3_uc010gys.2_5'UTR	p.W139L	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			5	554	+			139					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.416G>T	CCDS14026.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.140205|5.140205	0.94560|0.94560	.|.	.|.	ENSG00000100167|ENSG00000100167	ENST00000328414|ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	.|T;T;T;T;T	.|0.58797	.|0.31;0.31;0.31;0.31;0.31	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79167|0.79167	0.4400|0.4400	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.997;1.0;0.996;0.997	.|D;D;D;D	.|0.97110	.|0.992;1.0;0.986;0.995	T|T	0.82368|0.82368	-0.0492|-0.0492	6|10	0.87932|0.87932	D|D	0|0	.|.	18.9591|18.9591	0.92671|0.92671	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|75;75;139;139	.|B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.|.;.;.;SEPT3_HUMAN	W|L	69|126;139;75;139;75	.|ENSP00000391416:W126L;ENSP00000379704:W139L;ENSP00000383956:W75L;ENSP00000379703:W139L;ENSP00000291236:W75L	ENSP00000332866:G69W|ENSP00000291236:W75L	G|W	+|+	1|2	0|0	SEPT3|SEPT3	40713574|40713574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	9.770000|9.770000	0.98971|0.98971	2.555000|2.555000	0.86185|0.86185	0.514000|0.514000	0.50259|0.50259	GGG|TGG		0.488	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		8	106	1	0	3.86212e-05	0.008291	4.46834e-05	8	106				
TCF20	6942	broad.mit.edu	37	22	42609766	42609766	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:42609766C>G	ENST00000359486.3	-	1	1682	c.1546G>C	c.(1546-1548)Gca>Cca	p.A516P	TCF20_ENST00000335626.4_Missense_Mutation_p.A516P	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A516P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATGACTCTGCCATAGGGGAC	0.522																																							uc003bcj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1546-1548)GCA>CCA		transcription factor 20 isoform 1							157.0	167.0	164.0					22																	42609766		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609766C>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1546G>C	22.37:g.42609766C>G	ENSP00000352463:p.Ala516Pro					TCF20_uc003bck.1_Missense_Mutation_p.A516P|TCF20_uc003bnt.2_Missense_Mutation_p.A516P	p.A516P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	1680	-			516					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1546G>C	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027224	0.75390	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35605	1.3;1.3	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.49830	0.1580	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70016	0.967;0.928	T	0.49173	-0.8967	10	0.72032	D	0.01	-13.3109	20.8794	0.99867	0.0:1.0:0.0:0.0	.	516;516	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	P	516	ENSP00000352463:A516P;ENSP00000335561:A516P	ENSP00000335561:A516P	A	-	1	0	TCF20	40939710	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.637000	0.46553	2.941000	0.99782	0.655000	0.94253	GCA		0.522	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		55	403	0	0	0	0.00361	0	55	403				
PNPLA5	150379	broad.mit.edu	37	22	44285403	44285403	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:44285403C>A	ENST00000597664.1	-	4	637	c.508G>T	c.(508-510)Gct>Tct	p.A170S	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000216177.4_Missense_Mutation_p.A170S			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	170	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.A170S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTGCTCAGAGCCCCATCGATG	0.632																																							uc003beg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GCT>TCT		patatin-like phospholipase domain containing 5							168.0	159.0	162.0					22																	44285403		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44285403C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.508G>T	22.37:g.44285403C>A	ENSP00000471069:p.Ala170Ser					PNPLA5_uc011aqc.1_Intron|PNPLA5_uc003beh.2_Intron	p.A170S	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			4	605	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	170			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.508G>T		.	.	.	.	.	.	.	.	.	.	C	7.971	0.749100	0.15710	.	.	ENSG00000100341	ENST00000216177	T	0.77358	-1.09	4.97	2.85	0.33270	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.382752	0.21703	N	0.070386	T	0.71693	0.3370	L	0.58810	1.83	0.52501	D	0.999955	B	0.11235	0.004	B	0.13407	0.009	T	0.66810	-0.5829	10	0.51188	T	0.08	-2.2001	9.3699	0.38248	0.1431:0.7798:0.0:0.0771	.	170	Q7Z6Z6	PLPL5_HUMAN	S	170	ENSP00000216177:A170S	ENSP00000216177:A170S	A	-	1	0	PNPLA5	42616736	0.003000	0.15002	0.004000	0.12327	0.001000	0.01503	1.924000	0.40065	0.626000	0.30322	-0.226000	0.12346	GCT		0.632	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		47	203	1	0	5.20006e-24	0.002852	9.62721e-24	47	203				
FBLN1	2192	broad.mit.edu	37	22	45943050	45943050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:45943050C>A	ENST00000327858.6	+	12	1502	c.1407C>A	c.(1405-1407)taC>taA	p.Y469*	FBLN1_ENST00000402984.3_Nonsense_Mutation_p.Y507*|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000340923.5_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000262722.7_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000348697.2_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000442170.2_Nonsense_Mutation_p.Y469*	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	469	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.Y469*(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCGAGGCTACCAGCTCAGCG	0.597																																							uc003bgj.1		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1405-1407)TAC>TAA		fibulin 1 isoform D							89.0	74.0	79.0					22																	45943050		2203	4300	6503	SO:0001587	stop_gained	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45943050C>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1407C>A	22.37:g.45943050C>A	ENSP00000331544:p.Tyr469*					FBLN1_uc003bgg.1_Nonsense_Mutation_p.Y469*|FBLN1_uc003bgh.2_Nonsense_Mutation_p.Y469*|FBLN1_uc010gzz.2_Nonsense_Mutation_p.Y507*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Y469*	p.Y469*	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	1554	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	469			EGF-like 7; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Nonsense_Mutation	SNP	ENST00000327858.6	37	c.1407C>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	39	7.582505	0.98371	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	.	.	.	5.78	3.67	0.42095	.	0.174452	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7701	0.46316	0.0:0.7947:0.0:0.2053	.	.	.	.	X	469;507;469;469;469;469	.	ENSP00000262722:Y469X	Y	+	3	2	FBLN1	44321714	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.318000	0.33643	1.429000	0.47314	0.603000	0.83216	TAC		0.597	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		7	55	1	0	5.18039e-06	0.00308	6.26229e-06	7	55				
ZBED4	9889	broad.mit.edu	37	22	50278436	50278436	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:50278436C>T	ENST00000216268.5	+	2	1603	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P376S(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCTCGTCTCCAGTAAAGCC	0.637																																							uc003bix.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1126-1128)CCA>TCA		zinc finger, BED-type containing 4							51.0	54.0	53.0					22																	50278436		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278436C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1126C>T	22.37:g.50278436C>T	ENSP00000216268:p.Pro376Ser						p.P376S	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1596	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	376					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1126C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	6.039	0.375513	0.11409	.	.	ENSG00000100426	ENST00000216268	T	0.53857	0.6	5.18	4.17	0.49024	.	0.127623	0.53938	D	0.000054	T	0.41971	0.1182	L	0.28740	0.885	0.38788	D	0.954915	B	0.21071	0.051	B	0.21917	0.037	T	0.40270	-0.9572	10	0.44086	T	0.13	-2.3307	13.782	0.63087	0.0:0.9267:0.0:0.0733	.	376	O75132	ZBED4_HUMAN	S	376	ENSP00000216268:P376S	ENSP00000216268:P376S	P	+	1	0	ZBED4	48664440	0.315000	0.24571	0.022000	0.16811	0.002000	0.02628	1.399000	0.34566	1.434000	0.47414	0.655000	0.94253	CCA		0.637	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		14	103	0	0	0	0.004007	0	14	103				
GRM7	2917	broad.mit.edu	37	3	7456833	7456833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:7456833C>A	ENST00000357716.4	+	5	1431	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	GRM7_ENST00000402647.2_Missense_Mutation_p.T386K|GRM7_ENST00000403881.1_Missense_Mutation_p.T386K|GRM7_ENST00000486284.1_Missense_Mutation_p.T386K|GRM7_ENST00000389336.4_Missense_Mutation_p.T386K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	386					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.T386K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AAAGAAGACACAGATCGCAAA	0.418																																							uc003bqm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(1156-1158)ACA>AAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						98.0	91.0	93.0					3																	7456833		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456833C>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1157C>A	3.37:g.7456833C>A	ENSP00000350348:p.Thr386Lys					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.T386K|GRM7_uc003bql.2_Missense_Mutation_p.T386K|GRM7_uc003bqn.1_5'UTR	p.T386K	NM_000844	NP_000835	Q14831	GRM7_HUMAN			5	1431	+			386			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1157C>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473279	0.43942	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.052022	0.85682	D	0.000000	T	0.77579	0.4151	N	0.22421	0.69	0.40887	D	0.984042	B;P;B	0.34587	0.403;0.458;0.013	B;B;B	0.32211	0.087;0.142;0.015	T	0.75345	-0.3350	10	0.30078	T	0.28	.	19.0006	0.92832	0.0:1.0:0.0:0.0	.	386;386;386	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	K	386;386;386;386;386;386;386;43	ENSP00000350348:T386K;ENSP00000417536:T386K;ENSP00000373987:T386K;ENSP00000385664:T386K;ENSP00000384585:T386K;ENSP00000395035:T43K	ENSP00000350348:T386K	T	+	2	0	GRM7	7431833	0.952000	0.32445	0.997000	0.53966	0.995000	0.86356	2.133000	0.42093	2.906000	0.99361	0.655000	0.94253	ACA		0.418	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		23	79	1	0	2.21704e-12	0.00278	3.44095e-12	23	79				
ATP2B2	491	broad.mit.edu	37	3	10391822	10391822	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:10391822G>A	ENST00000352432.4	-	15	2447	c.2378C>T	c.(2377-2379)cCa>cTa	p.P793L	ATP2B2_ENST00000360273.2_Missense_Mutation_p.P793L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P779L|ATP2B2_ENST00000397077.1_Missense_Mutation_p.P748L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.P748L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	793					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.P793L(1)|p.P748L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCCGTTGGGGAGGAGCG	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2377-2379)CCA>CTA		plasma membrane calcium ATPase 2 isoform 1							45.0	41.0	43.0					3																	10391822		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10391822G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2378C>T	3.37:g.10391822G>A	ENSP00000324172:p.Pro793Leu					ATP2B2_uc003bvv.2_Missense_Mutation_p.P748L|ATP2B2_uc003bvw.2_Missense_Mutation_p.P748L|ATP2B2_uc010hdo.2_Missense_Mutation_p.P498L	p.P793L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			16	2817	-			793			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2378C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519234	0.85495	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31;-5.31;-5.31	4.44	3.55	0.40652	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.052659	0.85682	D	0.000000	D	0.99664	0.9875	H	0.99794	4.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.997	D	0.97211	0.9871	10	0.87932	D	0	-18.4002	14.617	0.68556	0.0:0.1469:0.8531:0.0	.	728;760;793	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	793;748;748;793;779;728;649;793	ENSP00000324172:P793L;ENSP00000373311:P748L;ENSP00000380267:P748L;ENSP00000353414:P793L;ENSP00000344677:P779L;ENSP00000414854:P649L	ENSP00000342954:P793L	P	-	2	0	ATP2B2	10366822	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.935000	0.87658	0.956000	0.37904	0.491000	0.48974	CCA		0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	32	0	0	0	0.008291	0	8	32				
WNT7A	7476	broad.mit.edu	37	3	13896298	13896298	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:13896298T>A	ENST00000285018.4	-	3	605	c.301A>T	c.(301-303)Agc>Tgc	p.S101C		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	101					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.S101C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCCTCCCGGCTCCCTGCGAGG	0.627																																							uc003bye.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(301-303)AGC>TGC		wingless-type MMTV integration site family,							47.0	48.0	48.0					3																	13896298		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896298T>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.301A>T	3.37:g.13896298T>A	ENSP00000285018:p.Ser101Cys						p.S101C	NM_004625	NP_004616	O00755	WNT7A_HUMAN			3	606	-			101					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.301A>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470580	0.84533	.	.	ENSG00000154764	ENST00000285018	T	0.76448	-1.02	4.98	4.98	0.66077	.	0.540506	0.20243	N	0.096243	D	0.83478	0.5263	L	0.49513	1.565	0.80722	D	1	P	0.52842	0.956	D	0.64506	0.926	T	0.81908	-0.0717	10	0.34782	T	0.22	.	14.6761	0.68981	0.0:0.0:0.0:1.0	.	101	O00755	WNT7A_HUMAN	C	101	ENSP00000285018:S101C	ENSP00000285018:S101C	S	-	1	0	WNT7A	13871299	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	8.040000	0.89188	1.871000	0.54225	0.459000	0.35465	AGC		0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		18	87	0	0	0	0.007413	0	18	87				
GRIP2	80852	broad.mit.edu	37	3	14547155	14547155	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:14547155C>T	ENST00000273083.3	-	0	2605							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.E848E(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCTCCTCCTCCTCTGGAA	0.672																																							uc011avi.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2833-2835)GAG>GAA		glutamate receptor interacting protein 2							30.0	33.0	32.0					3																	14547155		2073	4185	6258			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14547155C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547155C>T						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.E476E	p.E945E	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			21	2835	-			847					Q8TEH9|Q9H7H3	Silent	SNP	ENST00000273083.3	37	c.2835G>A																																																																																					0.672	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	12	0	0	0	0.000602	0	4	12				
TBC1D5	9779	broad.mit.edu	37	3	17447954	17447954	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:17447954T>A	ENST00000253692.7	-	5	1896	c.232A>T	c.(232-234)Aat>Tat	p.N78Y	TBC1D5_ENST00000429383.4_Missense_Mutation_p.N78Y|TBC1D5_ENST00000429924.2_Missense_Mutation_p.N30Y|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N78Y	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	78						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.N78Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCTGCCCATTAATCCCCTTC	0.373																																							uc003cbf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)AAT>TAT		TBC1 domain family, member 5 isoform b							188.0	180.0	183.0					3																	17447954		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17447954T>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.232A>T	3.37:g.17447954T>A	ENSP00000253692:p.Asn78Tyr					TBC1D5_uc010hev.2_Missense_Mutation_p.N78Y|TBC1D5_uc003cbe.2_Missense_Mutation_p.N78Y|TBC1D5_uc010hew.1_Missense_Mutation_p.N30Y	p.N78Y	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			5	1897	-			78					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.232A>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538513	0.45176	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863	T;T;T;T;T;T;T;T;T;T;T	0.20738	3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;2.05;2.05;2.05	5.76	4.58	0.56647	Rab-GAP/TBC domain (2);	0.123265	0.85682	D	0.000000	T	0.26629	0.0651	L	0.56769	1.78	0.58432	D	0.999995	B;B;B	0.28605	0.019;0.217;0.129	B;B;B	0.34385	0.017;0.181;0.181	T	0.04678	-1.0934	10	0.72032	D	0.01	-19.9766	13.4439	0.61129	0.0:0.0:0.1306:0.8694	.	30;78;78	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	Y	78;78;78;30;78;78;78;78;78;78;78	ENSP00000253692:N78Y;ENSP00000398127:N78Y;ENSP00000402935:N78Y;ENSP00000411925:N30Y;ENSP00000396239:N78Y;ENSP00000387395:N78Y;ENSP00000399967:N78Y;ENSP00000410596:N78Y;ENSP00000393882:N78Y;ENSP00000424998:N78Y;ENSP00000415379:N78Y	ENSP00000253692:N78Y	N	-	1	0	TBC1D5	17422958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	1.076000	0.40961	0.528000	0.53228	AAT		0.373	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		12	135	0	0	0	0.001368	0	12	135				
ARPP21	10777	broad.mit.edu	37	3	35723372	35723372	+	Splice_Site	SNP	G	G	A	rs576537216	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:35723372G>A	ENST00000187397.4	+	3	585	c.129G>A	c.(127-129)caG>caA	p.Q43Q	ARPP21_ENST00000436702.1_Splice_Site_p.Q43Q|ARPP21_ENST00000412048.1_Splice_Site_p.Q43Q|ARPP21_ENST00000438071.1_Splice_Site_p.Q43Q|ARPP21_ENST00000428373.1_Splice_Site_p.Q43Q|ARPP21_ENST00000427542.1_Splice_Site_p.Q43Q|ARPP21_ENST00000474696.1_Splice_Site_p.Q43Q|ARPP21_ENST00000441454.1_Splice_Site_p.Q43Q|ARPP21_ENST00000417925.1_Splice_Site_p.Q43Q|ARPP21_ENST00000396482.2_Splice_Site_p.Q43Q|ARPP21_ENST00000432682.1_Splice_Site_p.Q43Q|ARPP21_ENST00000396481.2_Splice_Site_p.Q43Q|ARPP21_ENST00000458225.1_Splice_Site_p.Q43Q|ARPP21_ENST00000337271.5_Splice_Site_p.Q43Q|ARPP21_ENST00000444190.1_Splice_Site_p.Q43Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	43					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.Q43Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGAACTGCAGGTGAGTGAGC	0.433													G|||	3	0.000599042	0.0	0.0043	5008	,	,		15824	0.0		0.0	False		,,,				2504	0.0						uc003cgb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(127-129)CAG>CAA		cyclic AMP-regulated phosphoprotein, 21 kD							92.0	91.0	91.0					3																	35723372		2203	4300	6503	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35723372G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.129+1G>A	3.37:g.35723372G>A						ARPP21_uc003cga.2_Silent_p.Q43Q|ARPP21_uc011axy.1_Silent_p.Q43Q|ARPP21_uc003cfz.2_RNA|ARPP21_uc003cgc.2_Silent_p.Q43Q|ARPP21_uc003cgd.2_Silent_p.Q43Q|ARPP21_uc011axx.1_RNA|ARPP21_uc003cge.2_Silent_p.Q43Q	p.Q43Q	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			3	393	+			43			Potential.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.129G>A	CCDS2661.1																																																																																				0.433	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Silent	5	38	0	0	0	0.00308	0	5	38				
ARPP21	10777	broad.mit.edu	37	3	35731613	35731613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:35731613G>T	ENST00000187397.4	+	8	982	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	ARPP21_ENST00000417925.1_Missense_Mutation_p.D176Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.D176Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.D176Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.D176Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	176	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.D176Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAAATTATTGATTTCATTGC	0.313																																							uc003cgb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(526-528)GAT>TAT		cyclic AMP-regulated phosphoprotein, 21 kD							112.0	109.0	110.0					3																	35731613		2202	4297	6499	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35731613G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.526G>T	3.37:g.35731613G>T	ENSP00000187397:p.Asp176Tyr					ARPP21_uc003cga.2_Missense_Mutation_p.D176Y|ARPP21_uc011axy.1_Missense_Mutation_p.D176Y|ARPP21_uc003cgf.2_Missense_Mutation_p.D12Y	p.D176Y	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			8	790	+			176			R3H.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.526G>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.141495|3.141495	0.57044|0.57044	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	T;T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87;0.87|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Single-stranded nucleic acid binding R3H (3);|.	0.049358|.	0.85682|.	D|.	0.000000|.	T|.	0.77928|.	0.4204|.	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51933|.	0.936;0.949;0.936|.	P;D;P|.	0.63283|.	0.752;0.913;0.752|.	T|.	0.75792|.	-0.3193|.	10|.	0.59425|.	D|.	0.04|.	-13.5178|-13.5178	20.2602|20.2602	0.98440|0.98440	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;176;176|.	Q9UBL0-3;Q9UBL0;Q9UBL0-4|.	.;ARP21_HUMAN;.|.	Y|L	176|17	ENSP00000414351:D176Y;ENSP00000337792:D176Y;ENSP00000405276:D176Y;ENSP00000187397:D176Y;ENSP00000412326:D176Y|.	ENSP00000187397:D176Y|.	D|X	+|+	1|2	0|2	ARPP21|ARPP21	35706617|35706617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.230000|0.230000	0.25150|0.25150	9.771000|9.771000	0.98977|0.98977	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.313	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		10	41	1	0	1.58986e-06	0.008291	1.96659e-06	10	41				
DCLK3	85443	broad.mit.edu	37	3	36779327	36779327	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:36779327C>A	ENST00000416516.2	-	2	1314	c.824G>T	c.(823-825)tGg>tTg	p.W275L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	275						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W275L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCAGGAGCCAGCCACCATG	0.577																																							uc003cgi.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(823-825)TGG>TTG		doublecortin-like kinase 3							90.0	96.0	94.0					3																	36779327		1951	4128	6079	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779327C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.824G>T	3.37:g.36779327C>A	ENSP00000394484:p.Trp275Leu						p.W275L	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	1315	-			275						Missense_Mutation	SNP	ENST00000416516.2	37	c.824G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783642	0.49891	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.48	4.59	0.56863	.	0.000000	0.30850	N	0.008745	T	0.50205	0.1602	L	0.32530	0.975	0.33075	D	0.535918	P	0.49635	0.926	B	0.41571	0.36	T	0.64664	-0.6354	10	0.49607	T	0.09	.	11.1027	0.48184	0.1449:0.7156:0.1395:0.0	.	275	Q9C098	DCLK3_HUMAN	L	275	ENSP00000394484:W275L	ENSP00000394484:W275L	W	-	2	0	DCLK3	36754331	0.962000	0.33011	0.969000	0.41365	0.996000	0.88848	1.240000	0.32731	1.420000	0.47138	0.655000	0.94253	TGG		0.577	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		47	147	1	0	4.37618e-36	0.00361	8.59514e-36	47	147				
ACVR2B	93	broad.mit.edu	37	3	38519453	38519453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:38519453G>T	ENST00000352511.4	+	3	834	c.362G>T	c.(361-363)gGc>gTc	p.G121V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	121					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G121V(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGGCTGGGGGCCCGGAAGGT	0.607																																							uc003cif.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(361-363)GGC>GTC		activin A receptor, type IIB precursor							71.0	74.0	73.0					3																	38519453		2203	4300	6503	SO:0001583	missense	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38519453G>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.362G>T	3.37:g.38519453G>T	ENSP00000340361:p.Gly121Val					ACVR2B_uc003cig.2_5'UTR	p.G121V	NM_001106	NP_001097	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	3	386	+	Medulloblastoma(35;0.163)		121			Extracellular (Potential).		Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	c.362G>T	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	3.224	-0.158865	0.06544	.	.	ENSG00000114739	ENST00000352511	D	0.83837	-1.77	4.77	3.88	0.44766	.	0.121345	0.56097	D	0.000026	T	0.70281	0.3206	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64859	-0.6308	10	0.24483	T	0.36	.	11.6481	0.51273	0.0855:0.0:0.9145:0.0	.	121	Q13705	AVR2B_HUMAN	V	121	ENSP00000340361:G121V	ENSP00000340361:G121V	G	+	2	0	ACVR2B	38494457	1.000000	0.71417	0.991000	0.47740	0.356000	0.29392	6.802000	0.75175	2.203000	0.70933	0.462000	0.41574	GGC		0.607	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		34	200	1	0	1.99505e-19	0.002445	3.56933e-19	34	200				
SCN5A	6331	broad.mit.edu	37	3	38627390	38627390	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:38627390A>G	ENST00000333535.4	-	16	2728	c.2579T>C	c.(2578-2580)cTc>cCc	p.L860P	SCN5A_ENST00000425664.1_Missense_Mutation_p.L860P|SCN5A_ENST00000451551.2_Missense_Mutation_p.L860P|SCN5A_ENST00000450102.2_Missense_Mutation_p.L860P|SCN5A_ENST00000443581.1_Missense_Mutation_p.L860P|SCN5A_ENST00000414099.2_Missense_Mutation_p.L860P|SCN5A_ENST00000455624.2_Missense_Mutation_p.L860P|SCN5A_ENST00000449557.2_Missense_Mutation_p.L860P|SCN5A_ENST00000413689.1_Missense_Mutation_p.L860P|SCN5A_ENST00000423572.2_Missense_Mutation_p.L860P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	860					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L860P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGCCAAAGAGCTGCATGCC	0.552																																							uc003cio.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2578-2580)CTC>CCC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						167.0	162.0	164.0					3																	38627390		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627390A>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2579T>C	3.37:g.38627390A>G	ENSP00000328968:p.Leu860Pro					SCN5A_uc003cin.2_Missense_Mutation_p.L860P|SCN5A_uc003cil.3_Missense_Mutation_p.L860P|SCN5A_uc010hhi.2_Missense_Mutation_p.L860P|SCN5A_uc010hhk.2_Missense_Mutation_p.L860P|SCN5A_uc011ayr.1_Missense_Mutation_p.L860P|SCN5A_uc010hhj.1_Missense_Mutation_p.L471P	p.L860P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2773	-	Medulloblastoma(35;0.163)		860			Helical; Name=S5 of repeat II; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2579T>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027771	0.75390	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99226	-5.59;-5.59;-5.59;-5.59;-5.59;-5.59;-5.59;-5.59;-5.59;-5.59	4.17	4.17	0.49024	Ion transport (1);	0.152168	0.45606	D	0.000355	D	0.99680	0.9880	H	0.99347	4.525	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.996;0.972;1.0;0.982	D	0.97199	0.9863	10	0.87932	D	0	.	13.3769	0.60743	1.0:0.0:0.0:0.0	.	860;860;860;860;860;860;860	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	860	ENSP00000398962:L860P;ENSP00000398266:L860P;ENSP00000410257:L860P;ENSP00000388797:L860P;ENSP00000397915:L860P;ENSP00000416634:L860P;ENSP00000328968:L860P;ENSP00000399524:L860P;ENSP00000403355:L860P;ENSP00000413996:L860P	ENSP00000328968:L860P	L	-	2	0	SCN5A	38602394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	1.761000	0.52028	0.379000	0.24179	CTC		0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		27	142	0	0	0	0.00632	0	27	142				
XIRP1	165904	broad.mit.edu	37	3	39228545	39228545	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:39228545C>T	ENST00000340369.3	-	2	2620	c.2392G>A	c.(2392-2394)Ggg>Agg	p.G798R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G798R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	798					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.G798R(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAGCTCCCCTGGCCCTCGG	0.607																																							uc003cjk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2392-2394)GGG>AGG		xin actin-binding repeat containing 1							62.0	63.0	62.0					3																	39228545		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228545C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2392G>A	3.37:g.39228545C>T	ENSP00000343140:p.Gly798Arg					XIRP1_uc003cji.2_Missense_Mutation_p.G798R|XIRP1_uc003cjj.2_Intron	p.G798R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2613	-			798					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2392G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362303	0.24684	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05081	3.5;3.89	4.11	3.15	0.36227	.	0.509065	0.19158	N	0.121269	T	0.06462	0.0166	N	0.25380	0.74	0.80722	D	1	D;B	0.56035	0.974;0.095	P;B	0.47134	0.539;0.015	T	0.50474	-0.8824	10	0.22109	T	0.4	.	11.739	0.51781	0.0:0.8197:0.1803:0.0	.	798;798	Q702N8;Q702N8-2	XIRP1_HUMAN;.	R	798	ENSP00000379550:G798R;ENSP00000343140:G798R	ENSP00000343140:G798R	G	-	1	0	XIRP1	39203549	0.058000	0.20735	0.955000	0.39395	0.980000	0.70556	1.824000	0.39072	2.310000	0.77875	0.563000	0.77884	GGG		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		10	96	0	0	0	0.001368	0	10	96				
LIMD1	8994	broad.mit.edu	37	3	45637310	45637310	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:45637310A>T	ENST00000273317.4	+	1	960	c.939A>T	c.(937-939)agA>agT	p.R313S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.R313S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	313					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R313S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTCTTCCAAGATCAAACTCGG	0.597																																							uc003coq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)AGA>AGT		LIM domains containing 1							54.0	59.0	57.0					3																	45637310		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637310A>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.939A>T	3.37:g.45637310A>T	ENSP00000273317:p.Arg313Ser						p.R313S	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	988	+			313					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.939A>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379549	0.24944	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.61040	0.14;0.35	4.99	2.64	0.31445	.	1.692330	0.02775	N	0.120123	T	0.44456	0.1294	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.19516	-1.0303	10	0.19590	T	0.45	.	4.651	0.12594	0.6002:0.1581:0.2416:0.0	.	313	Q9UGP4	LIMD1_HUMAN	S	313	ENSP00000394537:R313S;ENSP00000273317:R313S	ENSP00000273317:R313S	R	+	3	2	LIMD1	45612314	0.028000	0.19301	0.017000	0.16124	0.635000	0.38103	1.535000	0.36061	0.756000	0.33013	0.533000	0.62120	AGA		0.597	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	105	0	0	0	0.000978	0	9	105				
LIMD1	8994	broad.mit.edu	37	3	45707201	45707201	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:45707201G>A	ENST00000273317.4	+	3	1591	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Missense_Mutation_p.D524N	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	524	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D524N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TTGTGAAGAAGACTTCCTGGT	0.507																																							uc003coq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1570-1572)GAC>AAC		LIM domains containing 1							128.0	136.0	133.0					3																	45707201		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45707201G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1570G>A	3.37:g.45707201G>A	ENSP00000273317:p.Asp524Asn						p.D524N	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	3	1619	+			524			Necessary for nuclear localization.|LIM zinc-binding 1.		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1570G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575281	0.96553	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	D;D	0.89415	-2.51;-2.51	5.73	5.73	0.89815	Zinc finger, LIM-type (4);	0.058064	0.64402	D	0.000002	D	0.96109	0.8732	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95272	0.8378	10	0.05721	T	0.95	.	18.0797	0.89439	0.0:0.0:1.0:0.0	.	524	Q9UGP4	LIMD1_HUMAN	N	524	ENSP00000394537:D524N;ENSP00000273317:D524N	ENSP00000273317:D524N	D	+	1	0	LIMD1	45682205	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.470000	0.97683	2.708000	0.92522	0.655000	0.94253	GAC		0.507	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		18	188	0	0	0	0.001882	0	18	188				
XCR1	2829	broad.mit.edu	37	3	46062476	46062476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:46062476G>T	ENST00000309285.3	-	2	1320	c.964C>A	c.(964-966)Cct>Act	p.P322T	XCR1_ENST00000542109.1_Missense_Mutation_p.P322T	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	322					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.P322T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAGGCACCAGGGGAGTGGGGG	0.647																																							uc003cpe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(964-966)CCT>ACT		XC chemokine receptor 1							25.0	25.0	25.0					3																	46062476		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062476G>T		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.964C>A	3.37:g.46062476G>T	ENSP00000310405:p.Pro322Thr					uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.P322T	p.P322T	NM_005283	NP_005274	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	3	1188	-			322			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000309285.3	37	c.964C>A	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295274	0.23564	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.66460	-0.21;-0.21	5.73	2.86	0.33363	.	0.308092	0.11907	U	0.518024	T	0.44726	0.1307	N	0.08118	0	0.09310	N	1	P	0.35077	0.483	B	0.30251	0.113	T	0.26326	-1.0106	10	0.46703	T	0.11	.	11.9467	0.52932	0.0631:0.3334:0.6034:0.0	.	322	P46094	XCR1_HUMAN	T	322	ENSP00000310405:P322T;ENSP00000438119:P322T	ENSP00000310405:P322T	P	-	1	0	XCR1	46037480	0.001000	0.12720	0.035000	0.18076	0.067000	0.16453	0.473000	0.22132	0.720000	0.32209	0.655000	0.94253	CCT		0.647	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			3	19	1	0	3.59834e-05	0.001168	4.19273e-05	3	19				
ELP6	54859	broad.mit.edu	37	3	47543343	47543343	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:47543343T>A	ENST00000296149.4	-	5	494		c.e5-2		Y_RNA_ENST00000607813.1_RNA|ELP6_ENST00000439305.1_Splice_Site|ELP6_ENST00000446787.1_Splice_Site|RP11-708J19.2_ENST00000604904.1_RNA	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6						chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)		p.?(1)									TTAGCCTCCCTGGAGAGACAG	0.517																																							uc003crk.2		NA																	1	Unknown(1)		lung(1)		0						c.e5-1		transmembrane protein 103							41.0	40.0	41.0					3																	47543343		1961	4137	6098	SO:0001630	splice_region_variant	54859							g.chr3:47543343T>A	AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.324-2A>T	3.37:g.47543343T>A						C3orf75_uc003crj.2_Splice_Site_p.R35_splice|C3orf75_uc011bba.1_Splice_Site_p.R59_splice|C3orf75_uc003crl.1_Splice_Site_p.R108_splice	p.R108_splice	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN			5	443	-								Q9BW57|Q9NXJ3	Splice_Site	SNP	ENST00000296149.4	37	c.324_splice	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971594	0.74246	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760;ENST00000425291;ENST00000449409;ENST00000414236	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.848	0.57842	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3orf75	47518347	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	6.110000	0.71535	2.289000	0.77006	0.459000	0.35465	.		0.517	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1	NM_017713	Intron	6	22	0	0	0	0.001984	0	6	22				
CELSR3	1951	broad.mit.edu	37	3	48677941	48677941	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:48677941G>A	ENST00000164024.4	-	34	9357	c.9077C>T	c.(9076-9078)gCc>gTc	p.A3026V	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3031V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3026					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A3026V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTCAGGGGCACCTCGGGT	0.642																																							uc003cul.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9076-9078)GCC>GTC		cadherin EGF LAG seven-pass G-type receptor 3							22.0	24.0	23.0					3																	48677941		2199	4292	6491	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677941G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9077C>T	3.37:g.48677941G>A	ENSP00000164024:p.Ala3026Val					CELSR3_uc003cuf.1_Missense_Mutation_p.A3124V|CELSR3_uc010hkf.2_Missense_Mutation_p.A316V|CELSR3_uc010hkg.2_Missense_Mutation_p.A1009V	p.A3026V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9358	-			3026			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9077C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428164	0.43122	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70516	-0.49;-0.49	4.52	3.6	0.41247	.	.	.	.	.	T	0.53948	0.1828	N	0.14661	0.345	0.25478	N	0.987761	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.45833	-0.9234	9	0.41790	T	0.15	.	11.9266	0.52823	0.09:0.0:0.91:0.0	.	3031;3026;3124	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	V	3026;3031	ENSP00000164024:A3026V;ENSP00000445694:A3031V	ENSP00000164024:A3026V	A	-	2	0	CELSR3	48652945	1.000000	0.71417	0.723000	0.30687	0.955000	0.61496	4.100000	0.57762	0.990000	0.38787	0.555000	0.69702	GCC		0.642	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		8	37	0	0	0	0.00308	0	8	37				
WDR6	11180	broad.mit.edu	37	3	49049550	49049550	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:49049550G>C	ENST00000608424.1	+	2	622	c.583G>C	c.(583-585)Gac>Cac	p.D195H	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.D225H|WDR6_ENST00000448293.1_Missense_Mutation_p.D144H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	195					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D195H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGCCTTAGCAGACAACAAACC	0.537																																							uc003cvj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(673-675)GAC>CAC		WD repeat domain 6 protein							81.0	72.0	75.0					3																	49049550		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049550G>C	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.583G>C	3.37:g.49049550G>C	ENSP00000477389:p.Asp195His					WDR6_uc011bbx.1_Missense_Mutation_p.D96H|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.D169H|WDR6_uc011bbz.1_Missense_Mutation_p.D144H	p.D225H	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	811	+			195			WD 2.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.673G>C		.	.	.	.	.	.	.	.	.	.	g	8.642	0.896278	0.17686	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000448293	T;T;D	0.90955	-0.58;-0.58;-2.76	5.43	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.427280	0.26792	N	0.022475	T	0.78585	0.4306	N	0.14661	0.345	0.09310	N	1	P;B;B	0.42337	0.776;0.002;0.004	B;B;B	0.37780	0.258;0.004;0.004	T	0.70011	-0.4989	10	0.42905	T	0.14	-7.7736	5.6742	0.17739	0.2306:0.1426:0.6267:0.0	.	66;195;144	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	H	225;227;144	ENSP00000378857:D225H;ENSP00000387692:D227H;ENSP00000413432:D144H	ENSP00000378857:D225H	D	+	1	0	WDR6	49024554	0.009000	0.17119	0.000000	0.03702	0.895000	0.52256	1.423000	0.34837	0.294000	0.22547	-0.217000	0.12591	GAC		0.537	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			13	71	0	0	0	0.00245	0	13	71				
RNF123	63891	broad.mit.edu	37	3	49725033	49725033	+	5'Flank	SNP	G	G	T	rs370891487		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:49725033G>T	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.T29K|MST1_ENST00000449682.2_Missense_Mutation_p.T104K|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Missense_Mutation_p.T90K|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T90K(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCGCAGCCTCGTGTGGGGCGA	0.612																																						GBM(110;181 1524 8005 22865 46297)	uc003cxg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(310-312)ACG>AAG		macrophage stimulating 1 (hepatocyte growth		G	LYS/THR	1,4405	2.1+/-5.4	0,1,2202	63.0	56.0	58.0		311	4.3	0.0	3		58	0,8600		0,0,4300	no	missense	MST1	NM_020998.3	78	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	104/726	49725033	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725033G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725033G>T	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.T104K|MST1_uc010hkx.2_Silent_p.R15R|MST1_uc011bct.1_Missense_Mutation_p.T104K|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.T104K	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	383	-			90			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.311C>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130526	0.37630	2.27E-4	0.0	ENSG00000173531	ENST00000449682;ENST00000383728;ENST00000545762	D;D;D	0.89050	-2.46;-2.46;-2.46	5.13	4.26	0.50523	.	0.366754	0.19842	N	0.104821	D	0.90466	0.7014	L	0.51422	1.61	0.09310	N	1	D;P	0.58970	0.984;0.79	P;P	0.60236	0.871;0.547	T	0.83007	-0.0174	10	0.66056	D	0.02	.	9.4068	0.38466	0.2232:0.0:0.7768:0.0	.	90;104	B7Z538;G3XAK1	.;.	K	104;29;90	ENSP00000414287:T104K;ENSP00000373234:T29K;ENSP00000437535:T90K	ENSP00000373234:T29K	T	-	2	0	MST1	49700037	0.238000	0.23825	0.007000	0.13788	0.225000	0.24961	2.581000	0.46077	1.300000	0.44818	0.591000	0.81541	ACG		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		10	56	1	0	0.00400662	0.004007	0.00426449	10	56				
CDHR4	389118	broad.mit.edu	37	3	49836286	49836286	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:49836286G>T	ENST00000412678.2	-	4	476	c.468C>A	c.(466-468)ctC>ctA	p.L156L	CDHR4_ENST00000343366.4_Missense_Mutation_p.P182T|CDHR4_ENST00000487256.1_Silent_p.L156L	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	156					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L156L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTAGGCCTGGGAGGAGCAGAG	0.602																																							uc010hkz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)CTC>CTA		cadherin-like 29 precursor							36.0	41.0	39.0					3																	49836286		2017	4175	6192	SO:0001819	synonymous_variant	389118				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr3:49836286G>T		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.468C>A	3.37:g.49836286G>T						CDHR4_uc003cxp.2_Missense_Mutation_p.P182T|CDHR4_uc011bcw.1_Silent_p.L156L	p.L156L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN			4	477	-			156			Extracellular (Potential).		Q6UXT0	Silent	SNP	ENST00000412678.2	37	c.468C>A	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790704	0.31685	.	.	ENSG00000187492	ENST00000343366	T	0.60672	0.17	4.81	-0.467	0.12150	.	0.573281	0.15785	N	0.244722	T	0.49660	0.1570	.	.	.	0.80722	D	1	B	0.32829	0.386	B	0.39217	0.294	T	0.46498	-0.9187	9	0.87932	D	0	-10.8822	5.6978	0.17865	0.2482:0.2728:0.479:0.0	.	182	A6H8M9-2	.	T	182	ENSP00000341302:P182T	ENSP00000341302:P182T	P	-	1	0	CDHR4	49811290	.	.	0.996000	0.52242	0.080000	0.17528	.	.	-0.064000	0.13043	-0.218000	0.12543	CCC		0.602	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540		7	38	1	0	0.000274275	0.004482	0.000306341	7	38				
PCBP4	57060	broad.mit.edu	37	3	51994299	51994299	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:51994299G>C	ENST00000461554.1	-	7	624	c.293C>G	c.(292-294)tCc>tGc	p.S98C	RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000428823.2_Missense_Mutation_p.S98C|PCBP4_ENST00000395014.2_Missense_Mutation_p.S64C|PCBP4_ENST00000322099.7_Missense_Mutation_p.S98C|PCBP4_ENST00000471622.1_Missense_Mutation_p.S98C|PCBP4_ENST00000355852.2_Missense_Mutation_p.S98C|PCBP4_ENST00000395013.3_Missense_Mutation_p.S21C|PCBP4_ENST00000484633.1_Missense_Mutation_p.S98C	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	98						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S64C(1)|p.S98C(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGAGGCCTGGAGACATTTCC	0.592																																							uc003dcd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(292-294)TCC>TGC		poly(rC) binding protein 4 isoform c							41.0	43.0	42.0					3																	51994299		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51994299G>C	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.293C>G	3.37:g.51994299G>C	ENSP00000417196:p.Ser98Cys					PCBP4_uc003dcb.1_Missense_Mutation_p.S64C|PCBP4_uc003dcc.1_Missense_Mutation_p.S64C|PCBP4_uc003dce.1_Missense_Mutation_p.S98C|PCBP4_uc003dcf.1_Missense_Mutation_p.S98C|PCBP4_uc003dcg.1_Missense_Mutation_p.S64C|PCBP4_uc003dch.1_Missense_Mutation_p.S98C|PCBP4_uc003dci.1_Missense_Mutation_p.S21C|PCBP4_uc003dcj.1_Missense_Mutation_p.S98C|PCBP4_uc003dck.1_Missense_Mutation_p.S98C|PCBP4_uc003dcl.1_Missense_Mutation_p.S98C	p.S98C	NM_033010	NP_127503	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	689	-			98					Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.293C>G	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824589	0.71143	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192;ENST00000468324;ENST00000466412;ENST00000497653	T;T;T;T;T;T;T;T;T;T;T	0.50001	1.33;1.33;1.33;1.37;1.4;1.37;1.34;1.74;0.79;0.93;0.76	5.17	5.17	0.71159	.	0.207476	0.41712	D	0.000835	T	0.73737	0.3625	M	0.92784	3.345	0.18873	N	0.999986	B;D;D;D;D;D;D	0.89917	0.048;0.996;0.981;0.993;0.993;1.0;0.982	B;P;P;P;P;D;P	0.69142	0.086;0.882;0.712;0.766;0.766;0.962;0.815	T	0.70846	-0.4761	10	0.72032	D	0.01	-21.302	13.369	0.60703	0.0:0.1581:0.8419:0.0	.	98;98;21;98;98;64;64	C9J0A4;P57723-2;B3KM64;E7EST1;P57723;Q9GZT1;Q9HCU2	.;.;.;.;PCBP4_HUMAN;.;.	C	98;98;98;98;21;98;64;98;98;98;98;98	ENSP00000348111:S98C;ENSP00000322341:S98C;ENSP00000417196:S98C;ENSP00000417100:S98C;ENSP00000378460:S21C;ENSP00000395030:S98C;ENSP00000378461:S64C;ENSP00000418925:S98C;ENSP00000419694:S98C;ENSP00000419557:S98C;ENSP00000417916:S98C	ENSP00000294192:S98C	S	-	2	0	PCBP4	51969339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.407000	0.44565	2.392000	0.81423	0.563000	0.77884	TCC		0.592	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		4	39	0	0	0	0.009096	0	4	39				
PBRM1	55193	broad.mit.edu	37	3	52643680	52643680	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:52643680T>C	ENST00000296302.7	-	16	2217	c.2216A>G	c.(2215-2217)aAt>aGt	p.N739S	PBRM1_ENST00000409767.1_Missense_Mutation_p.N754S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N739S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N739S|PBRM1_ENST00000356770.4_Missense_Mutation_p.N707S|PBRM1_ENST00000337303.4_Missense_Mutation_p.N739S|PBRM1_ENST00000410007.1_Missense_Mutation_p.N739S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N754S			Q86U86	PB1_HUMAN	polybromo 1	739	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y738_P741>*(2)|p.N739S(2)|p.Y706_P709>*(1)|p.N707S(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTCCGGCTCATTGTATGTACA	0.423			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		6	Substitution - Missense(3)|Complex - deletion inframe(3)	p.Y738_N739delYN(1)	lung(3)|kidney(3)	kidney(136)|breast(4)	140						c.(2215-2217)AAT>AGT		polybromo 1 isoform 4							135.0	131.0	132.0					3																	52643680		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643680T>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2216A>G	3.37:g.52643680T>C	ENSP00000296302:p.Asn739Ser					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N739S|PBRM1_uc003der.2_Missense_Mutation_p.N707S|PBRM1_uc003det.2_Missense_Mutation_p.N754S|PBRM1_uc003deu.2_Missense_Mutation_p.N754S|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N739S|PBRM1_uc010hmk.1_Missense_Mutation_p.N739S|PBRM1_uc003dey.2_Missense_Mutation_p.N739S|PBRM1_uc003dez.1_Missense_Mutation_p.N739S|PBRM1_uc003dfb.1_Missense_Mutation_p.N652S|PBRM1_uc003dfa.1_Missense_Mutation_p.N85S|PBRM1_uc003dfc.2_Missense_Mutation_p.N106S	p.N739S	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2228	-			739			Bromo 5.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2216A>G		.	.	.	.	.	.	.	.	.	.	T	18.77	3.694078	0.68386	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.17	6.17	0.99709	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	H	0.98370	4.215	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.997;0.999;0.998;0.999;1.0;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D	0.87578	0.985;0.982;0.996;0.998;0.964;0.977;0.969;0.993;0.994;0.969;0.969	D	0.87276	0.2289	10	0.72032	D	0.01	-35.1657	16.8222	0.85835	0.0:0.0:0.0:1.0	.	739;114;739;739;739;739;754;754;739;707;739	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	S	707;739;739;739;739;739;754;754;739;698	ENSP00000349213:N707S;ENSP00000378307:N739S;ENSP00000296302:N739S;ENSP00000338302:N739S;ENSP00000386593:N739S;ENSP00000386529:N739S;ENSP00000386643:N754S;ENSP00000386601:N754S;ENSP00000387775:N739S;ENSP00000397662:N698S	ENSP00000296302:N739S	N	-	2	0	PBRM1	52618720	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	AAT		0.423	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		39	134	0	0	0	0.002852	0	39	134				
ITIH1	3697	broad.mit.edu	37	3	52816058	52816058	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:52816058C>A	ENST00000273283.2	+	7	814	c.790C>A	c.(790-792)Cga>Aga	p.R264R	ITIH1_ENST00000542827.1_Silent_p.R264R|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.R122R|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	264					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R264R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGATGTCAGTCGAGACAAGAT	0.587																																							uc003dfs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(790-792)CGA>AGA		inter-alpha (globulin) inhibitor H1							149.0	125.0	133.0					3																	52816058		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52816058C>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.790C>A	3.37:g.52816058C>A						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	p.R264R	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	7	814	+			264					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.790C>A	CCDS2864.1																																																																																				0.587	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		17	100	1	0	1.02788e-11	0.00499	1.56086e-11	17	100				
RFT1	91869	broad.mit.edu	37	3	53137994	53137994	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:53137994T>A	ENST00000296292.3	-	10	1138	c.1077A>T	c.(1075-1077)ggA>ggT	p.G359G	RFT1_ENST00000394738.3_Silent_p.G320G	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	359					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.G359G(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)		GCATGGTCCCTCCGTAGATAT	0.488																																							uc003dgj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1075-1077)GGA>GGT		RFT1 homolog							63.0	62.0	62.0					3																	53137994		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.chr3:53137994T>A	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.1077A>T	3.37:g.53137994T>A						RFT1_uc003dgk.2_Silent_p.G320G	p.G359G	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)	10	1131	-			359					Q96J03	Silent	SNP	ENST00000296292.3	37	c.1077A>T	CCDS2869.1																																																																																				0.488	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		13	47	0	0	0	0.001855	0	13	47				
ARHGEF3	50650	broad.mit.edu	37	3	56779328	56779328	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:56779328G>A	ENST00000296315.3	-	7	943	c.775C>T	c.(775-777)Cca>Tca	p.P259S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P265S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.P265S|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P259S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P291S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P230S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	259	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P259S(2)|p.P291S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGGCTTCTTGGAATATCGAGG	0.463																																							uc003dig.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(775-777)CCA>TCA		Rho guanine nucleotide exchange factor 3 isoform							159.0	173.0	168.0					3																	56779328		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779328G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.775C>T	3.37:g.56779328G>A	ENSP00000296315:p.Pro259Ser					ARHGEF3_uc011bew.1_Missense_Mutation_p.P259S|ARHGEF3_uc003dih.2_Missense_Mutation_p.P291S|ARHGEF3_uc011bev.1_Missense_Mutation_p.P230S|ARHGEF3_uc003dif.2_Missense_Mutation_p.P265S|ARHGEF3_uc010hmy.1_Missense_Mutation_p.P57S|ARHGEF3_uc003dii.2_Missense_Mutation_p.P259S	p.P259S	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	944	-			259			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.775C>T	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235309	0.95207	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.994;0.999;0.999;0.999;0.999	D	0.91334	0.5092	10	0.87932	D	0	-10.283	20.5471	0.99284	0.0:0.0:1.0:0.0	.	265;230;57;259;291;259;265	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	S	259;291;265;265;230;259	ENSP00000296315:P259S;ENSP00000341071:P291S;ENSP00000410922:P265S;ENSP00000420420:P265S;ENSP00000418826:P230S;ENSP00000417986:P259S	ENSP00000296315:P259S	P	-	1	0	ARHGEF3	56754368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCA		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		75	268	0	0	0	0.00361	0	75	268				
CADPS	8618	broad.mit.edu	37	3	62751548	62751548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:62751548C>A	ENST00000383710.4	-	2	902	c.553G>T	c.(553-555)Gag>Tag	p.E185*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.E185*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.E185*|CADPS_ENST00000490353.2_Nonsense_Mutation_p.E185*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	185					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E185*(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTCTCACCTCATAGTAACTC	0.517																																							uc003dll.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(553-555)GAG>TAG		Ca2+-dependent secretion activator isoform 1							123.0	108.0	113.0					3																	62751548		2203	4300	6503	SO:0001587	stop_gained	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751548C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.553G>T	3.37:g.62751548C>A	ENSP00000373215:p.Glu185*					CADPS_uc003dlm.2_Nonsense_Mutation_p.E185*|CADPS_uc003dln.2_Nonsense_Mutation_p.E185*	p.E185*	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	913	-		Lung SC(41;0.0452)	185					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation	SNP	ENST00000383710.4	37	c.553G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	41	8.767087	0.98945	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	.	.	.	5.24	5.24	0.73138	.	0.108387	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9568	0.89072	0.0:1.0:0.0:0.0	.	.	.	.	X	185	.	ENSP00000283269:E185X	E	-	1	0	CADPS	62726588	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.462000	0.80851	2.602000	0.87976	0.655000	0.94253	GAG		0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		17	66	1	0	6.94344e-10	0.006122	9.90913e-10	17	66				
PSMD6	9861	broad.mit.edu	37	3	64004980	64004980	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:64004980C>A	ENST00000295901.4	-	3	629	c.489G>T	c.(487-489)aaG>aaT	p.K163N	PSMD6_ENST00000482510.1_Missense_Mutation_p.K124N|PSMD6_ENST00000492933.1_Missense_Mutation_p.K216N|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000394431.2_Missense_Mutation_p.K125N	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.K163N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ACCTTTTGGCCTTTTCTGTGT	0.363																																							uc003dma.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(487-489)AAG>AAT		proteasome (prosome, macropain) 26S subunit,							92.0	92.0	92.0					3																	64004980		2203	4300	6503	SO:0001583	missense	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64004980C>A	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.489G>T	3.37:g.64004980C>A	ENSP00000295901:p.Lys163Asn					PSMD6_uc003dlz.1_Missense_Mutation_p.K114N|PSMD6_uc003dmb.1_Missense_Mutation_p.K216N|PSMD6_uc003dmc.1_Missense_Mutation_p.K124N|PSMD6_uc003dmd.1_Missense_Mutation_p.K125N	p.K163N	NM_014814	NP_055629	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	3	514	-		Lung NSC(201;0.136)	163					A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	c.489G>T	CCDS2901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.333406|3.333406	0.60853|0.60853	.|.	.|.	ENSG00000163636|ENSG00000163636	ENST00000480205|ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323	.|T;T;T;T;T	.|0.79554	.|-1.28;-1.28;-1.28;-1.28;-1.18	5.84|5.84	3.07|3.07	0.35406|0.35406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90167|0.90167	0.6927|0.6927	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.999;0.767;0.997;0.999	.|D;P;D;D	.|0.77557	.|0.987;0.731;0.98;0.99	D|D	0.90635|0.90635	0.4570|0.4570	5|10	.|0.87932	.|D	.|0	-10.7437|-10.7437	8.8152|8.8152	0.34991|0.34991	0.0:0.6735:0.0:0.3265|0.0:0.6735:0.0:0.3265	.|.	.|125;124;216;163	.|Q6UV22;E9PHI9;C9IZE4;Q15008	.|.;.;.;PSMD6_HUMAN	C|N	11|163;216;125;124;177	.|ENSP00000295901:K163N;ENSP00000418695:K216N;ENSP00000377952:K125N;ENSP00000419227:K124N;ENSP00000418887:K177N	.|ENSP00000295901:K163N	G|K	-|-	1|3	0|2	PSMD6|PSMD6	63980020|63980020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	1.911000|1.911000	0.39937|0.39937	1.482000|1.482000	0.48325|0.48325	-0.258000|-0.258000	0.10820|0.10820	GGC|AAG		0.363	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		14	96	1	0	7.93312e-07	0.00245	9.92523e-07	14	96				
ADAMTS9	56999	broad.mit.edu	37	3	64526878	64526878	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:64526878T>C	ENST00000498707.1	-	36	5756	c.5414A>G	c.(5413-5415)tAt>tGt	p.Y1805C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y1777C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1805	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				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.Y1805C(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)		GCTCCCGTTATAGGGACATTC	0.483																																							uc003dmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(5413-5415)TAT>TGT		ADAM metallopeptidase with thrombospondin type 1							76.0	79.0	78.0					3																	64526878		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526878T>C	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.5414A>G	3.37:g.64526878T>C	ENSP00000418735:p.Tyr1805Cys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.Y1777C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.Y716C	p.Y1805C	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)	36	5446	-		Lung NSC(201;0.00682)	1805			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5414A>G	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.93|12.93	2.083999|2.083999	0.36758|0.36758	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.17213	.|2.29;2.29	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Peptidase M12B, GON-ADAMTSs (2);	.|0.150893	.|0.47093	.|D	.|0.000254	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B;P	.|0.34909	.|0.283;0.475	.|B;P	.|0.47251	.|0.324;0.542	T|T	0.02238|0.02238	-1.1190|-1.1190	5|10	.|0.52906	.|T	.|0.07	.|.	16.0233|16.0233	0.80516|0.80516	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1777;1805	.|B7ZVX9;Q9P2N4	.|.;ATS9_HUMAN	V|C	861|1777;1805	.|ENSP00000295903:Y1777C;ENSP00000418735:Y1805C	.|ENSP00000295903:Y1777C	I|Y	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64501918|64501918	0.829000|0.829000	0.29322|0.29322	0.999000|0.999000	0.59377|0.59377	0.597000|0.597000	0.36814|0.36814	2.343000|2.343000	0.44001|0.44001	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.483	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			15	120	0	0	0	0.004007	0	15	120				
EPHA6	285220	broad.mit.edu	37	3	97167557	97167557	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97167557T>A	ENST00000389672.5	+	7	1915	c.1877T>A	c.(1876-1878)tTt>tAt	p.F626Y	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	532						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.F532Y(2)|p.F626Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAATTTGAATTTGAAACAGGA	0.378																																							uc010how.1		NA																	3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1876-1878)TTT>TAT		EPH receptor A6 isoform a							78.0	78.0	78.0					3																	97167557		1877	4109	5986	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167557T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1877T>A	3.37:g.97167557T>A	ENSP00000374323:p.Phe626Tyr					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Translation_Start_Site|EPHA6_uc003drs.3_Translation_Start_Site|EPHA6_uc003drr.3_Translation_Start_Site|EPHA6_uc003drt.2_Translation_Start_Site|EPHA6_uc010hox.1_RNA	p.F626Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			7	1920	+			531			Fibronectin type-III 2.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1877T>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302662	0.40795	.	.	ENSG00000080224	ENST00000389672	T	0.56103	0.48	5.02	5.02	0.67125	.	.	.	.	.	T	0.60117	0.2244	L	0.46741	1.465	0.80722	D	1	.	.	.	.	.	.	T	0.64232	-0.6456	7	0.87932	D	0	.	15.034	0.71731	0.0:0.0:0.0:1.0	.	.	.	.	Y	626	ENSP00000374323:F626Y	ENSP00000374323:F626Y	F	+	2	0	EPHA6	98650247	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.337000	0.43947	2.020000	0.59435	0.533000	0.62120	TTT		0.378	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		17	51	0	0	0	0.004007	0	17	51				
OR5H15	403274	broad.mit.edu	37	3	97887789	97887789	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97887789G>A	ENST00000356526.2	+	1	246	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CAAAGATGCTGAATAACTTCT	0.393																																							uc011bgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(244-246)CTG>CTA		olfactory receptor, family 5, subfamily H,							82.0	86.0	85.0					3																	97887789		2203	4294	6497	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887789G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.246G>A	3.37:g.97887789G>A							p.L82L	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	246	+			82			Extracellular (Potential).			Silent	SNP	ENST00000356526.2	37	c.246G>A	CCDS33799.1																																																																																				0.393	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			17	141	0	0	0	0.001882	0	17	141				
OR5H6	79295	broad.mit.edu	37	3	97984066	97984066	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97984066T>C	ENST00000383696.2	+	1	979	c.938T>C	c.(937-939)gTa>gCa	p.V313A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V313A(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACAAGCAAGTAATAGCTTCA	0.353																																							uc003dsi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(937-939)GTA>GCA		olfactory receptor, family 5, subfamily H,							54.0	55.0	55.0					3																	97984066		2184	4284	6468	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984066T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.938T>C	3.37:g.97984066T>C	ENSP00000373196:p.Val313Ala						p.V313A	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	938	+			313			Cytoplasmic (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.938T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.81	2.049191	0.36181	.	.	ENSG00000230301	ENST00000383696	T	0.39592	1.07	2.19	2.19	0.27852	.	0.000000	0.42682	D	0.000676	T	0.66925	0.2839	H	0.95437	3.67	0.09310	N	0.999999	D	0.64830	0.994	P	0.61201	0.885	T	0.60110	-0.7327	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	313	Q8NGV6	OR5H6_HUMAN	A	313	ENSP00000373196:V313A	ENSP00000373196:V313A	V	+	2	0	OR5H6	99466756	0.995000	0.38212	0.108000	0.21378	0.060000	0.15804	3.049000	0.49869	1.006000	0.39211	0.163000	0.16589	GTA		0.353	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			16	59	0	0	0	0.00499	0	16	59				
TMPRSS7	344805	broad.mit.edu	37	3	111780676	111780676	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:111780676G>T	ENST00000452346.2	+	11	1356	c.1353G>T	c.(1351-1353)gtG>gtT	p.V451V	TMPRSS7_ENST00000419127.1_Silent_p.V325V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	451	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V325V(1)|p.V180V(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTTCGAGTGCCCAGCCCTC	0.493																																							uc010hqb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)	2						c.(973-975)GTG>GTT		transmembrane protease, serine 7							123.0	124.0	124.0					3																	111780676		1938	4137	6075	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111780676G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1353G>T	3.37:g.111780676G>T						TMPRSS7_uc011bhr.1_Silent_p.V180V	p.V325V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			9	1145	+			451			Extracellular (Potential).|CUB 2.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.975G>T																																																																																					0.493	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		8	139	1	0	0.000157383	0.00308	0.000177598	8	139				
CD200R1	131450	broad.mit.edu	37	3	112643989	112643989	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112643989G>T	ENST00000471858.1	-	5	984	c.752C>A	c.(751-753)aCt>aAt	p.T251N	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.T274N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	251					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.T274N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AATAATAATAGTAAGGATGAT	0.313																																							uc003dzk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(751-753)ACT>AAT		CD200 receptor 1 isoform d							57.0	63.0	61.0					3																	112643989		2202	4298	6500	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112643989G>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.752C>A	3.37:g.112643989G>T	ENSP00000418928:p.Thr251Asn					CD200R1_uc003dzj.1_Missense_Mutation_p.T274N|CD200R1_uc011bhx.1_Intron	p.T251N	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			5	985	-			251			Helical; (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.752C>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	6.115	0.389474	0.11581	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.14266	2.53;2.52	5.08	3.19	0.36642	.	1.231680	0.05836	N	0.618365	T	0.07503	0.0189	N	0.08118	0	0.09310	N	0.999999	B;B	0.26483	0.092;0.15	B;B	0.23716	0.016;0.048	T	0.39901	-0.9591	10	0.23891	T	0.37	.	6.1484	0.20298	0.107:0.1844:0.7087:0.0	.	251;274	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	N	251;274	ENSP00000418928:T251N;ENSP00000311035:T274N	ENSP00000311035:T274N	T	-	2	0	CD200R1	114126679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.645000	0.30675	-0.345000	0.07892	ACT		0.313	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		3	15	1	0	1.23904e-05	0.000602	1.47337e-05	3	15				
BOC	91653	broad.mit.edu	37	3	112989746	112989746	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112989746C>A	ENST00000495514.1	+	6	1326	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	BOC_ENST00000355385.3_Missense_Mutation_p.Q208K|BOC_ENST00000273395.4_Missense_Mutation_p.Q208K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	208	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.Q208K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCAGTGACCCAGGAAGTGAA	0.602																																							uc003dzx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(622-624)CAG>AAG		brother of CDO precursor							142.0	140.0	140.0					3																	112989746		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112989746C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.622C>A	3.37:g.112989746C>A	ENSP00000418663:p.Gln208Lys					BOC_uc010hqi.2_Missense_Mutation_p.Q208K|BOC_uc003dzy.2_Missense_Mutation_p.Q208K|BOC_uc003dzz.2_Missense_Mutation_p.Q208K|BOC_uc003eab.2_5'UTR	p.Q208K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		6	1243	+			208			Extracellular (Potential).|Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.622C>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841853	0.71488	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.12039	2.72;2.72;2.72	5.8	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.16903	0.455	0.50632	D	0.99988	B;B	0.21071	0.041;0.051	B;B	0.29440	0.096;0.102	T	0.24941	-1.0146	10	0.21540	T	0.41	.	11.2646	0.49104	0.0:0.8043:0.1272:0.0684	.	208;208	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	208	ENSP00000418663:Q208K;ENSP00000273395:Q208K;ENSP00000347546:Q208K	ENSP00000273395:Q208K	Q	+	1	0	BOC	114472436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.727000	0.68523	1.454000	0.47793	0.655000	0.94253	CAG		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		32	224	1	0	1.47244e-24	0.00623	2.73891e-24	32	224				
BOC	91653	broad.mit.edu	37	3	112991432	112991432	+	Silent	SNP	G	G	A	rs368545761		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112991432G>A	ENST00000495514.1	+	7	1547	c.843G>A	c.(841-843)ctG>ctA	p.L281L	BOC_ENST00000355385.3_Silent_p.L281L|BOC_ENST00000273395.4_Silent_p.L281L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	281	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L281L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTTCCTGCTGAGCAACCTCC	0.632																																							uc003dzx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(841-843)CTG>CTA		brother of CDO precursor		G		1,4405	2.1+/-5.4	0,1,2202	127.0	120.0	122.0		843	0.5	1.0	3		122	0,8600		0,0,4300	no	coding-synonymous	BOC	NM_033254.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		281/1115	112991432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112991432G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.843G>A	3.37:g.112991432G>A						BOC_uc003dzy.2_Silent_p.L281L|BOC_uc003dzz.2_Silent_p.L281L|BOC_uc003eab.2_5'UTR	p.L281L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		7	1464	+			281			Ig-like C2-type 3.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.843G>A	CCDS2971.1																																																																																				0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		19	188	0	0	0	0.007413	0	19	188				
GAP43	2596	broad.mit.edu	37	3	115342539	115342539	+	Start_Codon_SNP	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:115342539G>C	ENST00000305124.6	+	1	369	c.3G>C	c.(1-3)atG>atC	p.M1I	GAP43_ENST00000393780.3_5'UTR	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	1	Important for membrane binding.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.M1I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGACAACCATGCTGTGCTGTA	0.463																																							uc003ebq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATC		growth associated protein 43 isoform 2							209.0	191.0	197.0					3																	115342539		2203	4300	6503	SO:0001582	initiator_codon_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115342539G>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.3G>C	3.37:g.115342539G>C	ENSP00000305010:p.Met1Ile					GAP43_uc003ebr.2_5'UTR	p.M1I	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	1	389	+			1			Important for membrane binding.		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.3G>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438467	0.43326	.	.	ENSG00000172020	ENST00000305124	T	0.40476	1.03	4.33	4.33	0.51752	Neuromodulin gap junction N-terminal (1);	.	.	.	.	T	0.65974	0.2743	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.72064	-0.4403	8	0.72032	D	0.01	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	1	P17677	NEUM_HUMAN	I	1	ENSP00000305010:M1I	ENSP00000305010:M1I	M	+	3	0	GAP43	116825229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.118000	0.89577	2.235000	0.73313	0.557000	0.71058	ATG		0.463	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045	Missense_Mutation	16	134	0	0	0	0.003163	0	16	134				
C3orf30	152405	broad.mit.edu	37	3	118865608	118865608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:118865608C>A	ENST00000295622.1	+	1	612	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	191								p.S191Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAGCTTCCGAGCAGATG	0.512																																							uc003ecb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)TCC>TAC		hypothetical protein LOC152405							90.0	93.0	92.0					3																	118865608		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865608C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.572C>A	3.37:g.118865608C>A	ENSP00000295622:p.Ser191Tyr					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.S191Y	p.S191Y	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	612	+			191					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.572C>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.171423|2.171423	0.38315|0.38315	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.27557	.|1.66	3.87|3.87	2.97|2.97	0.34412|0.34412	.|.	.|1.257440	.|0.05456	.|N	.|0.550289	T|T	0.40670|0.40670	0.1126|0.1126	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P;D	.|0.71674	.|0.932;0.998	.|B;D	.|0.69142	.|0.415;0.962	T|T	0.37731|0.37731	-0.9693|-0.9693	5|10	.|0.42905	.|T	.|0.14	-14.7772|-14.7772	8.9733|8.9733	0.35919|0.35919	0.4336:0.5664:0.0:0.0|0.4336:0.5664:0.0:0.0	.|.	.|191;191	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	L|Y	154|191	.|ENSP00000295622:S191Y	.|ENSP00000295622:S191Y	F|S	+|+	3|2	2|0	C3orf30|C3orf30	120348298|120348298	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.001000|-0.001000	0.12947|0.12947	1.177000|1.177000	0.42855|0.42855	0.514000|0.514000	0.50259|0.50259	TTC|TCC		0.512	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		18	124	1	0	2.4624e-09	0.008871	3.43201e-09	18	124				
UPK1B	7348	broad.mit.edu	37	3	118909901	118909901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:118909901C>A	ENST00000264234.3	+	5	567	c.418C>A	c.(418-420)Cag>Aag	p.Q140K	UPK1B_ENST00000497685.1_Missense_Mutation_p.Q60K|UPK1B_ENST00000460625.1_Missense_Mutation_p.Q132K	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	140					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAATGATGACCAGTGGAAAAA	0.483																																							uc003ecc.2		NA																	0					0						c.(418-420)CAG>AAG		uroplakin 1B							255.0	251.0	252.0					3																	118909901		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118909901C>A	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.418C>A	3.37:g.118909901C>A	ENSP00000264234:p.Gln140Lys					UPK1B_uc011bix.1_Missense_Mutation_p.Q60K|UPK1B_uc003ecd.2_Missense_Mutation_p.Q132K	p.Q140K	NM_006952	NP_008883	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	507	+			140			Extracellular (Potential).		O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.418C>A	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.098604	0.01843	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.55	-0.279	0.12890	Tetraspanin, EC2 domain (1);	1.094610	0.06962	N	0.816498	T	0.52058	0.1711	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34153	-0.9840	10	0.05959	T	0.93	-10.6879	11.07	0.47997	0.4035:0.5022:0.0942:0.0	.	132;140	C9J9M7;O75841	.;UPK1B_HUMAN	K	60;140;140;140;132	ENSP00000418972:Q60K;ENSP00000264234:Q140K;ENSP00000418399:Q140K;ENSP00000418597:Q140K;ENSP00000418116:Q132K	ENSP00000264234:Q140K	Q	+	1	0	UPK1B	120392591	0.000000	0.05858	0.215000	0.23724	0.662000	0.39071	-0.028000	0.12350	-0.003000	0.14444	-0.521000	0.04368	CAG		0.483	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			53	357	1	0	6.14515e-18	0.00361	1.07499e-17	53	357				
PARP15	165631	broad.mit.edu	37	3	122340333	122340333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:122340333G>T	ENST00000464300.2	+	8	1172	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	PARP15_ENST00000483793.1_Missense_Mutation_p.C243F|PARP15_ENST00000310366.4_Missense_Mutation_p.C135F|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.C135F	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	369	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.C369F(1)|p.C135F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCAGGTGGATGCTTAAAGTGC	0.403																																							uc003efm.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1105-1107)TGC>TTC		poly (ADP-ribose) polymerase family, member 15							93.0	90.0	91.0					3																	122340333		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340333G>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1106G>T	3.37:g.122340333G>T	ENSP00000417214:p.Cys369Phe					PARP15_uc003efn.2_Missense_Mutation_p.C243F|PARP15_uc003efo.1_Missense_Mutation_p.C116F|PARP15_uc003efp.1_Missense_Mutation_p.C135F|PARP15_uc011bjt.1_Missense_Mutation_p.C135F	p.C369F	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1172	+			347			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1106G>T	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116749	0.01799	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.21734	1.99;2.01;1.99;1.99	4.16	-5.42	0.02640	Appr-1-p processing (3);	2.030650	0.02932	N	0.139328	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.0;0.0;0.0;0.006;0.0	B;B;B;B;B	0.17979	0.0;0.001;0.0;0.02;0.001	T	0.24261	-1.0165	10	0.10111	T	0.7	.	3.5971	0.08010	0.3382:0.0:0.2629:0.3989	.	135;135;116;243;347	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	F	369;243;116;135;135	ENSP00000417214:C369F;ENSP00000417785:C243F;ENSP00000308436:C135F;ENSP00000419488:C135F	ENSP00000308436:C135F	C	+	2	0	PARP15	123823023	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.533000	0.02215	-1.144000	0.02862	-0.302000	0.09304	TGC		0.403	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		23	154	1	0	4.16121e-05	0.00278	4.80873e-05	23	154				
MYLK	4638	broad.mit.edu	37	3	123452994	123452994	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:123452994C>A	ENST00000475616.1	-	7	848	c.849G>T	c.(847-849)tcG>tcT	p.S283S	MYLK_ENST00000360304.3_Silent_p.S283S|MYLK_ENST00000346322.5_Silent_p.S283S|MYLK_ENST00000360772.3_Silent_p.S283S|MYLK_ENST00000359169.1_Silent_p.S283S			Q15746	MYLK_HUMAN	myosin light chain kinase	283					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S283S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCCAGCTTCGACTCCTTTG	0.557																																							uc003ego.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(847-849)TCG>TCT		myosin light chain kinase isoform 1							76.0	73.0	74.0					3																	123452994		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452994C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.849G>T	3.37:g.123452994C>A						MYLK_uc011bjw.1_Silent_p.S283S|MYLK_uc003egp.2_Silent_p.S283S|MYLK_uc003egq.2_Silent_p.S283S|MYLK_uc003egr.2_Silent_p.S283S|MYLK_uc003egs.2_Silent_p.S107S	p.S283S	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1131	-		Lung NSC(201;0.0496)	283					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.849G>T	CCDS46896.1																																																																																				0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	83	1	0	9.31168e-06	0.001855	1.1174e-05	13	83				
MYLK	4638	broad.mit.edu	37	3	123456333	123456333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:123456333G>T	ENST00000475616.1	-	5	645	c.646C>A	c.(646-648)Cag>Aag	p.Q216K	MYLK_ENST00000360304.3_Missense_Mutation_p.Q216K|MYLK_ENST00000346322.5_Missense_Mutation_p.Q216K|MYLK_ENST00000360772.3_Missense_Mutation_p.Q216K|MYLK_ENST00000359169.1_Missense_Mutation_p.Q216K			Q15746	MYLK_HUMAN	myosin light chain kinase	216	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.Q216K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCAGAACCTGCATGCCGTTC	0.537																																							uc003ego.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(646-648)CAG>AAG		myosin light chain kinase isoform 1							227.0	183.0	198.0					3																	123456333		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456333G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.646C>A	3.37:g.123456333G>T	ENSP00000418335:p.Gln216Lys					MYLK_uc011bjw.1_Missense_Mutation_p.Q216K|MYLK_uc003egp.2_Missense_Mutation_p.Q216K|MYLK_uc003egq.2_Missense_Mutation_p.Q216K|MYLK_uc003egr.2_Missense_Mutation_p.Q216K|MYLK_uc003egs.2_Missense_Mutation_p.Q40K|MYLK_uc010hrs.1_Missense_Mutation_p.Q216K	p.Q216K	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	8	928	-		Lung NSC(201;0.0496)	216			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.646C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228029	0.79576	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66538	0.2799	N	0.21240	0.645	0.80722	D	1	P;P;D;P;D;P	0.60575	0.835;0.95;0.988;0.9;0.969;0.863	P;P;P;P;P;P	0.56216	0.466;0.697;0.794;0.466;0.723;0.601	T	0.64322	-0.6435	9	0.31617	T	0.26	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	216;216;216;216;216;216	Q15746-6;Q15746-5;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	K	216	ENSP00000354004:Q216K;ENSP00000353452:Q216K;ENSP00000352088:Q216K;ENSP00000320622:Q216K;ENSP00000418335:Q216K	ENSP00000320622:Q216K	Q	-	1	0	MYLK	124939023	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.046000	0.76592	2.705000	0.92388	0.655000	0.94253	CAG		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		26	239	1	0	2.65835e-16	0.007291	4.5374e-16	26	239				
ITGB5	3693	broad.mit.edu	37	3	124492670	124492670	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:124492670G>A	ENST00000296181.4	-	11	2079	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	595	Cysteine-rich tandem repeats.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.R595W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCTCTGCCCCGGCATGTGCTG	0.587																																							uc003eho.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1783-1785)CGG>TGG		integrin, beta 5 precursor							91.0	77.0	82.0					3																	124492670		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124492670G>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1783C>T	3.37:g.124492670G>A	ENSP00000296181:p.Arg595Trp					ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	p.R595W	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	11	2080	-			595			IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1783C>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154197	0.57259	.	.	ENSG00000082781	ENST00000296181	D	0.92595	-3.07	5.05	3.2	0.36748	.	0.880032	0.10086	N	0.717771	D	0.88983	0.6586	M	0.64404	1.975	0.32459	N	0.544369	D	0.56521	0.976	B	0.42653	0.394	D	0.86461	0.1779	10	0.72032	D	0.01	.	3.0261	0.06091	0.0881:0.1592:0.4468:0.3059	.	595	P18084	ITB5_HUMAN	W	595	ENSP00000296181:R595W	ENSP00000296181:R595W	R	-	1	2	ITGB5	125975360	0.004000	0.15560	0.987000	0.45799	0.498000	0.33706	-0.008000	0.12788	0.658000	0.30925	0.655000	0.94253	CGG		0.587	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		19	77	0	0	0	0.002299	0	19	77				
SLC12A8	84561	broad.mit.edu	37	3	124829095	124829095	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:124829095G>A	ENST00000393469.4	-	8	1046	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R134C|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R333C|SLC12A8_ENST00000423114.2_Missense_Mutation_p.R362C|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R86C	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	333					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.R333C(1)|p.R371C(1)		endometrium(2)|kidney(2)|lung(12)	16						TGCAGGATGCGGGGAGCTCCA	0.507																																							uc003ehv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(997-999)CGC>TGC		solute carrier family 12, member 8							89.0	94.0	93.0					3																	124829095		1928	4134	6062	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124829095G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.997C>T	3.37:g.124829095G>A	ENSP00000377112:p.Arg333Cys					SLC12A8_uc003ehw.3_Missense_Mutation_p.R362C|SLC12A8_uc003eht.3_Missense_Mutation_p.R134C|SLC12A8_uc003ehu.3_Missense_Mutation_p.R86C|SLC12A8_uc010hry.2_Missense_Mutation_p.R86C	p.R333C	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			9	1108	-			333					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.997C>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932452	0.73442	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35;-6.35	5.26	4.37	0.52481	Amino acid permease domain (1);	.	.	.	.	D	0.99651	0.9871	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97732	1.0203	9	0.87932	D	0	.	13.5961	0.61991	0.0:0.0:0.5704:0.4296	.	86;362;333;134	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	C	134;333;362;333;86	ENSP00000415713:R134C;ENSP00000377112:R333C;ENSP00000404243:R362C;ENSP00000418783:R333C;ENSP00000323632:R86C	ENSP00000323632:R86C	R	-	1	0	SLC12A8	126311785	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.490000	0.35573	1.399000	0.46721	0.563000	0.77884	CGC		0.507	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		16	121	0	0	0	0.00499	0	16	121				
PLXNA1	5361	broad.mit.edu	37	3	126735383	126735383	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:126735383G>T	ENST00000393409.2	+	15	3038	c.3038G>T	c.(3037-3039)tGc>tTc	p.C1013F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.C990F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1013	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.C990F(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAGATCCGGTGCCTGACACCC	0.622																																							uc003ejg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2968-2970)TGC>TTC		plexin A1							77.0	83.0	81.0					3																	126735383		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735383G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3038G>T	3.37:g.126735383G>T	ENSP00000377061:p.Cys1013Phe						p.C990F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	15	2973	+			1013			IPT/TIG 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.2969G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330988	0.81690	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71103	-0.54;-0.54	3.84	3.84	0.44239	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.85605	0.5735	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89077	0.3473	10	0.87932	D	0	.	15.9482	0.79809	0.0:0.0:1.0:0.0	.	1013	Q9UIW2	PLXA1_HUMAN	F	1013;990	ENSP00000377061:C1013F;ENSP00000251772:C990F	ENSP00000251772:C990F	C	+	2	0	PLXNA1	128218073	1.000000	0.71417	0.990000	0.47175	0.856000	0.48823	9.632000	0.98428	1.986000	0.57962	0.491000	0.48974	TGC		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		10	163	1	0	1.76689e-08	0.006214	2.38331e-08	10	163				
MCM2	4171	broad.mit.edu	37	3	127336223	127336223	+	Silent	SNP	G	G	C	rs377688408		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:127336223G>C	ENST00000265056.7	+	11	2119	c.1875G>C	c.(1873-1875)acG>acC	p.T625T		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	625	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.T625T(1)		ovary(3)|skin(2)|stomach(1)	6						CTCGCTGCACGGTCATTGCTG	0.622																																							uc003ejp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1873-1875)ACG>ACC		minichromosome maintenance complex component 2							66.0	47.0	54.0					3																	127336223		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127336223G>C	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1875G>C	3.37:g.127336223G>C						MCM2_uc011bkm.1_Silent_p.T495T|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.T578T	p.T625T	NM_004526	NP_004517	P49736	MCM2_HUMAN			11	1932	+			625			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1875G>C	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	7.175	0.588429	0.13812	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.95	-9.32	0.00643	.	.	.	.	.	T	0.49745	0.1575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60052	-0.7338	4	.	.	.	-36.2803	10.7114	0.45986	0.0:0.2491:0.2135:0.5374	.	.	.	.	P	557	.	.	R	+	2	0	MCM2	128818913	0.000000	0.05858	0.184000	0.23157	0.849000	0.48306	-3.936000	0.00330	-2.098000	0.00850	-1.607000	0.00807	CGG		0.622	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			7	35	0	0	0	0.004482	0	7	35				
RAB43	339122	broad.mit.edu	37	3	128813856	128813857	+	Missense_Mutation	DNP	CC	CC	AA	rs368368130		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:128813856_128813857CC>AA	ENST00000315150.5	-	2	660_661	c.360_361GG>TT	c.(358-363)gcGGgc>gcTTgc	p.G121C	RAB43_ENST00000393307.1_Missense_Mutation_p.G121C|RAB43_ENST00000393308.1_Missense_Mutation_p.G121C|RAB43_ENST00000393304.1_Missense_Mutation_p.G121C|RAB43_ENST00000393305.1_Missense_Mutation_p.G121C|RAB43_ENST00000476465.1_Missense_Mutation_p.G121C|ISY1-RAB43_ENST00000418265.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	121					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G121C(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						ATGTTGGAGCCCGCATACTTCC	0.55																																							uc003eln.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(358-363)GCGGGC>GCTTGC		RAB43 protein																																				SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128813856_128813857CC>AA	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.360_361delinsAA	3.37:g.128813856_128813857delinsAA	ENSP00000319781:p.Gly121Cys					RAB43_uc003elo.1_3'UTR|RAB43_uc010hsy.1_Missense_Mutation_p.G121C	p.G121C	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN			2	647_648	-			121					A8K4P9|E9PBQ0	Missense_Mutation	DNP	ENST00000315150.5	37	c.360_361GG>TT	CCDS33850.1																																																																																				0.550	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		12	95	0	0	0	0.004672	0	12	95				
COL6A6	131873	broad.mit.edu	37	3	130282042	130282042	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:130282042T>C	ENST00000358511.6	+	2	226	c.195T>C	c.(193-195)cgT>cgC	p.R65R	COL6A6_ENST00000453409.2_Silent_p.R65R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	65	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R65R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAAATACCGTGTGGCCCTGG	0.502																																							uc010htl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(193-195)CGT>CGC		collagen type VI alpha 6 precursor							114.0	108.0	110.0					3																	130282042		1922	4122	6044	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282042T>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.195T>C	3.37:g.130282042T>C							p.R65R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	226	+			65			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.195T>C	CCDS46911.1																																																																																				0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		22	127	0	0	0	0.010504	0	22	127				
ACAD11	84129	broad.mit.edu	37	3	132360962	132360962	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:132360962C>T	ENST00000264990.6	-	4	1362	c.391G>A	c.(391-393)Gat>Aat	p.D131N	ACAD11_ENST00000481970.2_Missense_Mutation_p.D131N|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.D131N|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	131					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.D131N(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATTGTTAAATCACGGAAGATT	0.368																																							uc003eov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)GAT>AAT		putative acyl-CoA dehydrogenase							106.0	100.0	102.0					3																	132360962		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132360962C>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.391G>A	3.37:g.132360962C>T	ENSP00000264990:p.Asp131Asn					ACAD11_uc003eoy.2_Missense_Mutation_p.D131N	p.D131N	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			4	771	-			131					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.391G>A	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802869	0.90623	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.29655	1.56;1.56;1.56	5.49	5.49	0.81192	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.59487	0.2197	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.91635	0.893;0.999	T	0.58042	-0.7706	9	0.45353	T	0.12	.	19.7268	0.96166	0.0:1.0:0.0:0.0	.	131;131	D6RDI8;Q709F0	.;ACD11_HUMAN	N	131	ENSP00000347636:D131N;ENSP00000264990:D131N;ENSP00000420907:D131N	ENSP00000264990:D131N	D	-	1	0	ACAD11	133843652	1.000000	0.71417	0.996000	0.52242	0.539000	0.34962	5.035000	0.64158	2.727000	0.93392	0.563000	0.77884	GAT		0.368	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		10	79	0	0	0	0.001368	0	10	79				
EPHB1	2047	broad.mit.edu	37	3	134898709	134898709	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:134898709A>T	ENST00000398015.3	+	10	2137	c.1767A>T	c.(1765-1767)ccA>ccT	p.P589P	EPHB1_ENST00000493838.1_Silent_p.P150P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	589					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.P589P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGGCTCCCCAGGGATGAAGA	0.488																																							uc003eqt.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1765-1767)CCA>CCT		ephrin receptor EphB1 precursor							223.0	210.0	214.0					3																	134898709		1989	4189	6178	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134898709A>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1767A>T	3.37:g.134898709A>T						EPHB1_uc003equ.2_Silent_p.P150P	p.P589P	NM_004441	NP_004432	P54762	EPHB1_HUMAN			10	1987	+			589			Cytoplasmic (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1767A>T	CCDS46921.1																																																																																				0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		30	220	0	0	0	0.002836	0	30	220				
EPHB1	2047	broad.mit.edu	37	3	134920489	134920489	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:134920489C>G	ENST00000398015.3	+	12	2674	c.2304C>G	c.(2302-2304)taC>taG	p.Y768*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.Y329*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y768*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCTCCCGCTACCTCCAGGATG	0.522																																							uc003eqt.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2302-2304)TAC>TAG		ephrin receptor EphB1 precursor							107.0	108.0	108.0					3																	134920489		2191	4298	6489	SO:0001587	stop_gained	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920489C>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2304C>G	3.37:g.134920489C>G	ENSP00000381097:p.Tyr768*					EPHB1_uc003equ.2_Nonsense_Mutation_p.Y329*	p.Y768*	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2524	+			768			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	ENST00000398015.3	37	c.2304C>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	45	12.025202	0.99628	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.9143	0.58197	0.0:0.9254:0.0:0.0746	.	.	.	.	X	768;329	.	ENSP00000381097:Y768X	Y	+	3	2	EPHB1	136403179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.575000	0.36493	2.707000	0.92482	0.563000	0.77884	TAC		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		11	92	0	0	0	0.008291	0	11	92				
PRR23A	729627	broad.mit.edu	37	3	138724343	138724343	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:138724343C>A	ENST00000383163.2	-	1	767	c.768G>T	c.(766-768)ccG>ccT	p.P256P	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	256	Pro-rich.							p.P256P(1)		endometrium(3)|kidney(1)|lung(7)	11						GGGCCTTGCACGGAGGGCGTT	0.647																																							uc011bms.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)CCG>CCT		proline rich 23A							18.0	18.0	18.0					3																	138724343		692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724343C>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.768G>T	3.37:g.138724343C>A							p.P256P	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	768	-			256			Pro-rich.			Silent	SNP	ENST00000383163.2	37	c.768G>T	CCDS46923.1																																																																																				0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	3	1	0	0.00116845	0.001168	0.00126555	4	3				
CLSTN2	64084	broad.mit.edu	37	3	140284952	140284952	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:140284952G>A	ENST00000458420.3	+	17	2915	c.2725G>A	c.(2725-2727)Gcc>Acc	p.A909T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	909	Glu-rich (highly acidic).				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.A909T(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						GGAGGAAGAAGCCGAGGAAGA	0.542										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.(2725-2727)GCC>ACC		calsyntenin 2 precursor							107.0	110.0	109.0					3																	140284952		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140284952G>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.2725G>A	3.37:g.140284952G>A	ENSP00000402460:p.Ala909Thr	HNSCC(16;0.037)					p.A909T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			17	2915	+			909			Glu-rich (highly acidic).|Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2725G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351982	0.41700	.	.	ENSG00000158258	ENST00000458420	T	0.29655	1.56	5.5	4.63	0.57726	.	0.382752	0.28420	N	0.015402	T	0.18923	0.0454	N	0.14661	0.345	0.33872	D	0.635015	B	0.12013	0.005	B	0.14023	0.01	T	0.15809	-1.0424	9	.	.	.	-11.0478	14.3189	0.66470	0.0:0.1493:0.8507:0.0	.	909	Q9H4D0	CSTN2_HUMAN	T	909	ENSP00000402460:A909T	.	A	+	1	0	CLSTN2	141767642	0.999000	0.42202	0.284000	0.24805	0.831000	0.47069	7.009000	0.76347	1.307000	0.44944	0.655000	0.94253	GCC		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		7	64	0	0	0	0.008291	0	7	64				
TRIM42	287015	broad.mit.edu	37	3	140397271	140397271	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:140397271G>T	ENST00000286349.3	+	1	391	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	67	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C67F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTGGTGTTGCTGCTCTTGG	0.557																																							uc003eto.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(199-201)TGC>TTC		tripartite motif-containing 42							130.0	105.0	114.0					3																	140397271		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397271G>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.200G>T	3.37:g.140397271G>T	ENSP00000286349:p.Cys67Phe						p.C67F	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	391	+			67			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.200G>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668447	0.67814	.	.	ENSG00000155890	ENST00000286349	T	0.17691	2.26	5.53	5.53	0.82687	.	0.182978	0.39615	N	0.001313	T	0.27832	0.0685	N	0.19112	0.55	0.43574	D	0.9959	D	0.71674	0.998	D	0.81914	0.995	T	0.04140	-1.0974	10	0.87932	D	0	-17.3031	14.9755	0.71267	0.0:0.0:1.0:0.0	.	67	Q8IWZ5	TRI42_HUMAN	F	67	ENSP00000286349:C67F	ENSP00000286349:C67F	C	+	2	0	TRIM42	141879961	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.648000	0.67930	2.597000	0.87782	0.563000	0.77884	TGC		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		19	128	1	0	7.45023e-12	0.010504	1.13836e-11	19	128				
HLTF	6596	broad.mit.edu	37	3	148759310	148759310	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:148759310T>A	ENST00000310053.5	-	20	2536	c.2343A>T	c.(2341-2343)aaA>aaT	p.K781N	HLTF_ENST00000494055.1_Missense_Mutation_p.K781N|HLTF_ENST00000392912.2_Missense_Mutation_p.K781N|HLTF_ENST00000465259.1_Missense_Mutation_p.K780N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	781					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K781N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAATACAGGGTTTACAAAATA	0.363																																							uc003ewq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2341-2343)AAA>AAT		helicase-like transcription factor							117.0	113.0	115.0					3																	148759310		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148759310T>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2343A>T	3.37:g.148759310T>A	ENSP00000308944:p.Lys781Asn					HLTF_uc003ewr.1_Missense_Mutation_p.K781N|HLTF_uc003ews.1_Missense_Mutation_p.K780N|HLTF_uc010hve.1_Missense_Mutation_p.K780N	p.K781N	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		20	2561	-			781			RING-type.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2343A>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019846	0.75275	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	6.03	1.04	0.20106	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.88051	0.6333	L	0.52823	1.66	0.38509	D	0.948413	P;D;D	0.76494	0.851;0.999;0.998	P;D;D	0.72075	0.539;0.976;0.964	D	0.84939	0.0864	9	0.42905	T	0.14	-30.2203	9.5135	0.39091	0.0:0.2657:0.0:0.7343	.	781;781;781	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	N	780;781;781;781;249	ENSP00000420745:K780N;ENSP00000308944:K781N;ENSP00000376644:K781N;ENSP00000420429:K781N;ENSP00000420106:K249N	ENSP00000308944:K781N	K	-	3	2	HLTF	150242000	0.988000	0.35896	0.998000	0.56505	0.998000	0.95712	0.136000	0.15974	-0.040000	0.13580	0.455000	0.32223	AAA		0.363	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			15	69	0	0	0	0.004007	0	15	69				
HLTF	6596	broad.mit.edu	37	3	148791089	148791089	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:148791089T>A	ENST00000310053.5	-	5	743	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	HLTF_ENST00000494055.1_Missense_Mutation_p.S184C|HLTF_ENST00000392912.2_Missense_Mutation_p.S184C|HLTF_ENST00000465259.1_Missense_Mutation_p.S184C	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	184					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S184C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCCCAACCACTTTCCAAATTG	0.338																																							uc003ewq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)AGT>TGT		helicase-like transcription factor							55.0	59.0	58.0					3																	148791089		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148791089T>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.550A>T	3.37:g.148791089T>A	ENSP00000308944:p.Ser184Cys					HLTF_uc003ewr.1_Missense_Mutation_p.S184C|HLTF_uc003ews.1_Missense_Mutation_p.S184C|HLTF_uc010hve.1_Missense_Mutation_p.S184C	p.S184C	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	768	-			184					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.550A>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479102	0.44044	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	6.0	3.56	0.40772	.	.	.	.	.	D	0.83709	0.5313	N	0.19112	0.55	0.21841	N	0.999511	P;D;D	0.55605	0.943;0.972;0.972	P;P;P	0.47891	0.479;0.56;0.56	T	0.74737	-0.3564	9	0.56958	D	0.05	2.7972	2.764	0.05315	0.1467:0.0786:0.1529:0.6219	.	184;184;184	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	C	184;184;184;184;181;181	ENSP00000420745:S184C;ENSP00000308944:S184C;ENSP00000376644:S184C;ENSP00000420429:S184C	ENSP00000308944:S184C	S	-	1	0	HLTF	150273779	0.896000	0.30565	0.602000	0.28890	0.426000	0.31534	0.907000	0.28531	0.485000	0.27652	0.529000	0.55759	AGT		0.338	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			8	57	0	0	0	0.006214	0	8	57				
IGSF10	285313	broad.mit.edu	37	3	151163172	151163172	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:151163172T>A	ENST00000282466.3	-	4	4596	c.4597A>T	c.(4597-4599)Aag>Tag	p.K1533*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.K1533*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGAACTTGGCATTTGGG	0.418																																							uc011bod.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4597-4599)AAG>TAG		immunoglobulin superfamily, member 10 precursor							155.0	156.0	156.0					3																	151163172		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163172T>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4597A>T	3.37:g.151163172T>A	ENSP00000282466:p.Lys1533*						p.K1533*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4597	-			1533					Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.4597A>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	41	8.910555	0.99000	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	.	.	.	5.52	2.0	0.26442	.	0.592407	0.14843	N	0.295164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4034	0.16308	0.0:0.2499:0.1461:0.6039	.	.	.	.	X	1533;160	.	ENSP00000282466:K1533X	K	-	1	0	IGSF10	152645862	0.001000	0.12720	0.013000	0.15412	0.086000	0.17979	0.392000	0.20801	0.598000	0.29829	0.528000	0.53228	AAG		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		29	234	0	0	0	0.008361	0	29	234				
SI	6476	broad.mit.edu	37	3	164730802	164730802	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164730802A>G	ENST00000264382.3	-	34	4090	c.4028T>C	c.(4027-4029)aTa>aCa	p.I1343T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1343	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.I1343T(1)		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)	AGTTTTATCTATTGTTATGTT	0.333										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4027-4029)ATA>ACA		sucrase-isomaltase	Acarbose(DB00284)						127.0	125.0	125.0					3																	164730802		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164730802A>G	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.4028T>C	3.37:g.164730802A>G	ENSP00000264382:p.Ile1343Thr	HNSCC(35;0.089)					p.I1343T	NM_001041	NP_001032	P14410	SUIS_HUMAN			34	4090	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1343			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4028T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651886	0.47362	.	.	ENSG00000090402	ENST00000264382	D	0.88896	-2.44	4.35	1.96	0.26148	Glycoside hydrolase, superfamily (1);	0.060626	0.64402	D	0.000005	D	0.89001	0.6591	M	0.69823	2.125	0.30749	N	0.745302	P	0.42161	0.772	P	0.49252	0.604	D	0.85802	0.1374	10	0.87932	D	0	.	5.8034	0.18426	0.7685:0.0:0.083:0.1485	.	1343	P14410	SUIS_HUMAN	T	1343	ENSP00000264382:I1343T	ENSP00000264382:I1343T	I	-	2	0	SI	166213496	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	2.945000	0.49043	0.212000	0.20703	0.477000	0.44152	ATA		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		41	74	0	0	0	0.009718	0	41	74				
SI	6476	broad.mit.edu	37	3	164739041	164739041	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164739041C>A	ENST00000264382.3	-	27	3292	c.3230G>T	c.(3229-3231)cGa>cTa	p.R1077L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1077	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R1077L(1)		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)	GCTTCTCCGTCGAATCTGGAT	0.348										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3229-3231)CGA>CTA		sucrase-isomaltase	Acarbose(DB00284)						145.0	145.0	145.0					3																	164739041		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739041C>A	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.3230G>T	3.37:g.164739041C>A	ENSP00000264382:p.Arg1077Leu	HNSCC(35;0.089)					p.R1077L	NM_001041	NP_001032	P14410	SUIS_HUMAN			27	3292	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1077			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3230G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397185	0.62177	.	.	ENSG00000090402	ENST00000264382	T	0.12361	2.69	4.64	4.64	0.57946	Glycoside hydrolase-type carbohydrate-binding (1);	0.451423	0.21066	N	0.080755	T	0.26231	0.0640	M	0.78223	2.4	0.33538	D	0.594483	P	0.45474	0.859	P	0.52309	0.695	T	0.33929	-0.9849	10	0.45353	T	0.12	.	7.4249	0.27094	0.1673:0.7484:0.0:0.0842	.	1077	P14410	SUIS_HUMAN	L	1077	ENSP00000264382:R1077L	ENSP00000264382:R1077L	R	-	2	0	SI	166221735	0.091000	0.21658	0.978000	0.43139	0.974000	0.67602	0.301000	0.19174	2.414000	0.81942	0.585000	0.79938	CGA		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		21	96	1	0	4.35082e-09	0.010504	6.01715e-09	21	96				
SI	6476	broad.mit.edu	37	3	164792404	164792404	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164792404G>A	ENST00000264382.3	-	3	232	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	57	Ser/Thr-rich.				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)	p.P57L(1)		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)	TGAATCAGAAGGATTTGTAGT	0.353										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(169-171)CCT>CTT		sucrase-isomaltase	Acarbose(DB00284)						85.0	88.0	87.0					3																	164792404		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164792404G>A	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.170C>T	3.37:g.164792404G>A	ENSP00000264382:p.Pro57Leu	HNSCC(35;0.089)					p.P57L	NM_001041	NP_001032	P14410	SUIS_HUMAN			3	232	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	57			Ser/Thr-rich.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.170C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567696	0.13560	.	.	ENSG00000090402	ENST00000264382	D	0.88975	-2.45	2.77	0.668	0.17912	.	2.793120	0.00919	N	0.002579	T	0.75162	0.3812	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.65841	-0.6070	10	0.11485	T	0.65	.	3.1744	0.06564	0.1584:0.0:0.5851:0.2565	.	57	P14410	SUIS_HUMAN	L	57	ENSP00000264382:P57L	ENSP00000264382:P57L	P	-	2	0	SI	166275098	0.000000	0.05858	0.007000	0.13788	0.027000	0.11550	0.222000	0.17699	0.355000	0.24131	0.580000	0.79431	CCT		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	60	0	0	0	0.001168	0	4	60				
ZBBX	79740	broad.mit.edu	37	3	167045790	167045790	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:167045790G>T	ENST00000392766.2	-	11	1142	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	ZBBX_ENST00000455345.2_Missense_Mutation_p.Q268K|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q239K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q268K|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q268K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	268						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q268K(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTTCTCCATTGACTTAACACT	0.373																																							uc003fep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(802-804)CAA>AAA		zinc finger, B-box domain containing							218.0	202.0	207.0					3																	167045790		1880	4117	5997	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167045790G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.802C>A	3.37:g.167045790G>T	ENSP00000376519:p.Gln268Lys					ZBBX_uc011bpc.1_Missense_Mutation_p.Q268K|ZBBX_uc003feq.2_Missense_Mutation_p.Q239K	p.Q268K	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			11	1125	-			268					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.802C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747237	0.30955	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10668	3.03;3.03;3.02;3.02;2.85	5.43	4.55	0.56014	.	0.261528	0.19558	U	0.111385	T	0.15869	0.0382	L	0.56769	1.78	0.09310	N	0.999999	P;P	0.50156	0.932;0.798	P;B	0.45856	0.495;0.3	T	0.06391	-1.0829	10	0.45353	T	0.12	-2.6839	12.1852	0.54234	0.0:0.172:0.828:0.0	.	268;268	A8MT70-2;A8MT70	.;ZBBX_HUMAN	K	268;268;268;268;239	ENSP00000376519:Q268K;ENSP00000376520:Q268K;ENSP00000390232:Q268K;ENSP00000305065:Q268K;ENSP00000376517:Q239K	ENSP00000305065:Q268K	Q	-	1	0	ZBBX	168528484	1.000000	0.71417	0.019000	0.16419	0.010000	0.07245	3.845000	0.55880	1.260000	0.44134	0.455000	0.32223	CAA		0.373	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		20	179	1	0	5.26018e-13	0.001882	8.35515e-13	20	179				
CLDN11	5010	broad.mit.edu	37	3	170140990	170140990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170140990C>A	ENST00000064724.3	+	2	468	c.266C>A	c.(265-267)tCg>tAg	p.S89*	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Nonsense_Mutation_p.S89*|CLDN11_ENST00000451576.1_Nonsense_Mutation_p.S89*	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	89					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|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.S89*(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATTGCTGCCTCGGTCCTGGGT	0.617																																							uc003fgx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(265-267)TCG>TAG		claudin 11							148.0	143.0	144.0					3																	170140990		2203	4300	6503	SO:0001587	stop_gained	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170140990C>A	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.266C>A	3.37:g.170140990C>A	ENSP00000064724:p.Ser89*					CLDN11_uc011bpt.1_Nonsense_Mutation_p.S89*|CLDN11_uc003fgy.2_Nonsense_Mutation_p.S5*	p.S89*	NM_005602	NP_005593	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	468	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		89			Helical; (Potential).		B2R7C1|D3DNQ5|Q5U0P3	Nonsense_Mutation	SNP	ENST00000064724.3	37	c.266C>A	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193908	0.78902	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.7503	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	89	.	ENSP00000064724:S89X	S	+	2	0	CLDN11	171623684	0.995000	0.38212	0.933000	0.37362	0.077000	0.17291	3.016000	0.49607	2.675000	0.91044	0.557000	0.71058	TCG		0.617	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		37	235	1	0	7.70917e-36	0.00361	1.51112e-35	37	235				
SLC7A14	57709	broad.mit.edu	37	3	170198101	170198101	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170198101C>A	ENST00000231706.5	-	7	2285	c.1970G>T	c.(1969-1971)cGg>cTg	p.R657L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	657					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.R657L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GACCGCAAACCGGATCCATGT	0.498																																							uc003fgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1969-1971)CGG>CTG		solute carrier family 7 (cationic amino acid							106.0	111.0	110.0					3																	170198101		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198101C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1970G>T	3.37:g.170198101C>A	ENSP00000231706:p.Arg657Leu					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.R657L	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2286	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		657			Helical; (Potential).		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1970G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798798	0.90538	.	.	ENSG00000013293	ENST00000231706	D	0.91945	-2.94	5.81	5.81	0.92471	.	0.065303	0.64402	D	0.000001	D	0.95781	0.8627	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95139	0.8262	10	0.52906	T	0.07	.	20.0804	0.97772	0.0:1.0:0.0:0.0	.	657	Q8TBB6	S7A14_HUMAN	L	657	ENSP00000231706:R657L	ENSP00000231706:R657L	R	-	2	0	SLC7A14	171680795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.738000	0.93877	0.655000	0.94253	CGG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		55	209	1	0	2.17126e-26	0.00361	4.10474e-26	55	209				
SLC2A2	6514	broad.mit.edu	37	3	170716031	170716031	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170716031C>A	ENST00000314251.3	-	10	1404	c.1325G>T	c.(1324-1326)aGc>aTc	p.S442I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.S323I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	442					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.S442I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GGTCCAATTGCTGAATGCAGC	0.463																																							uc003fhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1324-1326)AGC>ATC		solute carrier family 2 (facilitated glucose							84.0	83.0	83.0					3																	170716031		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716031C>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1325G>T	3.37:g.170716031C>A	ENSP00000323568:p.Ser442Ile					SLC2A2_uc003fhf.1_Missense_Mutation_p.S269I|SLC2A2_uc011bpu.1_Missense_Mutation_p.S315I	p.S442I	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		10	1634	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		442			Helical; Name=11; (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1325G>T	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926471	0.52759	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.79845	-1.31;-1.31	6.17	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.191513	0.64402	D	0.000002	T	0.80412	0.4618	M	0.63208	1.945	0.41093	D	0.985613	B	0.18968	0.032	B	0.29267	0.1	T	0.74878	-0.3514	10	0.31617	T	0.26	.	17.2276	0.86975	0.0:0.7628:0.2372:0.0	.	442	P11168	GTR2_HUMAN	I	442;323	ENSP00000323568:S442I;ENSP00000372258:S323I	ENSP00000323568:S442I	S	-	2	0	SLC2A2	172198725	1.000000	0.71417	0.998000	0.56505	0.490000	0.33462	4.684000	0.61686	0.914000	0.36822	0.655000	0.94253	AGC		0.463	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		12	86	1	0	0.00185496	0.001855	0.0020036	12	86				
NLGN1	22871	broad.mit.edu	37	3	173997440	173997440	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:173997440G>C	ENST00000457714.1	+	6	2078	c.1649G>C	c.(1648-1650)gGt>gCt	p.G550A	NLGN1_ENST00000401917.3_Splice_Site_p.G590A|NLGN1_ENST00000361589.4_Splice_Site_p.G550A|NLGN1_ENST00000545397.1_Splice_Site_p.G550A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	567					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.G550A(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)			GCTAAAACTGGGTATGTACCT	0.294																																							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.(1648-1650)GGT>GCT		neuroligin 1							43.0	44.0	44.0					3																	173997440		2183	4245	6428	SO:0001630	splice_region_variant	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.chr3:173997440G>C	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.1649+1G>C	3.37:g.173997440G>C						NLGN1_uc010hww.1_3'UTR|NLGN1_uc003fip.1_Missense_Mutation_p.G550A	p.G550A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2072	+	Ovarian(172;0.0025)		567			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1649G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259405	0.80246	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92077	0.5669	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	550	Q8N2Q7-2	.	A	550;550;550;590	ENSP00000392500:G550A;ENSP00000354541:G550A;ENSP00000441108:G550A;ENSP00000385750:G590A	ENSP00000354541:G550A	G	+	2	0	NLGN1	175480134	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT		0.294	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	Missense_Mutation	17	84	0	0	0	0.00499	0	17	84				
CCDC39	339829	broad.mit.edu	37	3	180366130	180366130	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:180366130C>A	ENST00000442201.2	-	10	1304	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	CCDC39_ENST00000273654.4_Silent_p.L479L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	395					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.L479L(1)|p.L395L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATGAGGTTCAGTTGAACAT	0.299																																							uc010hxe.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1183-1185)CTG>CTT		coiled-coil domain containing 39							134.0	125.0	128.0					3																	180366130		1830	4066	5896	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180366130C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1185G>T	3.37:g.180366130C>A						CCDC39_uc003fkn.2_RNA	p.L395L	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1300	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		395			Potential.		B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1185G>T	CCDS46964.1																																																																																				0.299	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		22	86	1	0	9.57634e-11	0.00333	1.41382e-10	22	86				
ATP11B	23200	broad.mit.edu	37	3	182605388	182605388	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:182605388C>T	ENST00000323116.5	+	24	2990	c.2730C>T	c.(2728-2730)agC>agT	p.S910S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	910					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S910S(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTATGACAGCGTGTACCTGA	0.318																																							uc003flb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2728-2730)AGC>AGT		ATPase, class VI, type 11B							139.0	135.0	136.0					3																	182605388		2203	4298	6501	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182605388C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2730C>T	3.37:g.182605388C>T						ATP11B_uc003flc.2_Silent_p.S494S|ATP11B_uc011bqm.1_Intron|ATP11B_uc010hxf.1_Silent_p.S72S	p.S910S	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		24	2987	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		910			Extracellular (Potential).		Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.2730C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855164	0.17106	.	.	ENSG00000058063	ENST00000498086	.	.	.	5.34	3.54	0.40534	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49224	-0.8962	4	.	.	.	.	6.9713	0.24650	0.0:0.6083:0.0:0.3917	.	.	.	.	V	711	.	.	A	+	2	0	ATP11B	184088082	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.948000	0.40303	0.635000	0.30488	0.563000	0.77884	GCG		0.318	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		9	75	0	0	0	0.004482	0	9	75				
ALG3	10195	broad.mit.edu	37	3	183960709	183960709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:183960709C>A	ENST00000397676.3	-	8	1076	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	ALG3_ENST00000418734.2_Missense_Mutation_p.G293V|ALG3_ENST00000455059.1_Missense_Mutation_p.G309V|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000445626.2_Missense_Mutation_p.G301V|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	349					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.G349V(1)|p.G301V(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGCAGATGCCAATGAAGTT	0.572																																							uc003fne.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)GGC>GTC		alpha-1,3-mannosyltransferase ALG3 isoform a							72.0	77.0	75.0					3																	183960709		2058	4189	6247	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960709C>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1046G>T	3.37:g.183960709C>A	ENSP00000380793:p.Gly349Val					ALG3_uc011brc.1_Missense_Mutation_p.G314V|ALG3_uc011brd.1_Missense_Mutation_p.G293V|ALG3_uc011bre.1_Missense_Mutation_p.G301V	p.G349V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1077	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		349			Helical; (Potential).		A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1046G>T	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.330826|4.330826	0.81690|0.81690	.|.	.|.	ENSG00000214160|ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059|ENST00000446569	D;D;D;D|.	0.93953|.	-3.32;-3.32;-3.32;-3.32|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.87410|0.87410	0.6170|0.6170	H|H	0.95645|0.95645	3.7|3.7	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|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.91010|0.91010	0.4849|0.4849	10|5	0.87932|.	D|.	0|.	-10.5406|-10.5406	17.6301|17.6301	0.88104|0.88104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	301;293;309;349|.	A8JZZ6;B4DS50;C9J7S5;Q92685|.	.;.;.;ALG3_HUMAN|.	V|C	293;349;301;309|252	ENSP00000402976:G293V;ENSP00000380793:G349V;ENSP00000402744:G301V;ENSP00000397613:G309V|.	ENSP00000380793:G349V|.	G|W	-|-	2|3	0|0	ALG3|ALG3	185443403|185443403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.641000|2.641000	0.89580|0.89580	0.462000|0.462000	0.41574|0.41574	GGC|TGG		0.572	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		13	36	1	0	4.36969e-10	0.001855	6.27247e-10	13	36				
ETV5	2119	broad.mit.edu	37	3	185798879	185798879	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:185798879C>A	ENST00000306376.5	-	6	564	c.318G>T	c.(316-318)caG>caT	p.Q106H	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.Q106H|ETV5_ENST00000537818.1_Missense_Mutation_p.Q148H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	106					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q106H(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CACCAAGAGCCTGCTCATGGC	0.532			T	"""TMPRSS2, SCL45A3"""	Prostate																																		uc003fpz.2		NA		Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(316-318)CAG>CAT		ets variant gene 5 (ets-related molecule)							170.0	173.0	172.0					3																	185798879		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185798879C>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.318G>T	3.37:g.185798879C>A	ENSP00000306894:p.Gln106His					ETV5_uc003fpy.2_Missense_Mutation_p.Q148H	p.Q106H	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		6	565	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		106					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.318G>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049853	0.55218	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.04	2.86	0.33363	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.403196	0.26048	N	0.026647	T	0.42877	0.1222	M	0.72894	2.215	0.36170	D	0.848692	D;D	0.61697	0.99;0.99	P;P	0.62298	0.859;0.9	T	0.53697	-0.8402	10	0.54805	T	0.06	.	9.5564	0.39341	0.0:0.7948:0.0:0.2052	.	106;148	P41161;B7Z7D7	ETV5_HUMAN;.	H	106;106;148;106;106;106	ENSP00000306894:Q106H;ENSP00000413755:Q106H;ENSP00000441737:Q148H;ENSP00000389707:Q106H;ENSP00000412171:Q106H;ENSP00000405157:Q106H	ENSP00000306894:Q106H	Q	-	3	2	ETV5	187281573	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.351000	0.44071	1.109000	0.41680	0.563000	0.77884	CAG		0.532	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		52	279	1	0	1.13205e-32	0.00361	2.19927e-32	52	279				
TMEM175	84286	broad.mit.edu	37	4	945483	945483	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:945483C>G	ENST00000264771.4	+	6	541	c.356C>G	c.(355-357)aCc>aGc	p.T119S	TMEM175_ENST00000508204.1_Missense_Mutation_p.T37S|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.T3S	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	119						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T119S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCATGATGACCATCACCTTC	0.612																																							uc003gbq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)ACC>AGC		transmembrane protein 175							196.0	160.0	172.0					4																	945483		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:945483C>G	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.356C>G	4.37:g.945483C>G	ENSP00000264771:p.Thr119Ser					TMEM175_uc010ibl.1_Missense_Mutation_p.T119S|TMEM175_uc003gbp.1_Missense_Mutation_p.T37S|TMEM175_uc003gbr.2_Missense_Mutation_p.T37S|TMEM175_uc003gbu.2_Missense_Mutation_p.T37S|TMEM175_uc003gbs.2_Missense_Mutation_p.T2S|TMEM175_uc003gbt.2_Missense_Mutation_p.T2S|TMEM175_uc003gbv.2_Missense_Mutation_p.T2S|TMEM175_uc010ibm.2_Intron	p.T119S	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	454	+			119			Helical; (Potential).		D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.356C>G	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	17.13	3.310941	0.60414	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000515740;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;1.54;0.96;0.96;0.96	5.3	3.28	0.37604	.	0.154615	0.45361	D	0.000372	T	0.32585	0.0834	N	0.12182	0.205	0.24435	N	0.994554	P;D;D	0.63880	0.891;0.986;0.993	P;P;P	0.60609	0.596;0.629;0.877	T	0.12760	-1.0535	10	0.16420	T	0.52	-8.8522	4.3559	0.11178	0.0:0.6186:0.2376:0.1437	.	37;119;37	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	S	119;106;37;37;3;37;37;119	ENSP00000264771:T119S;ENSP00000425181:T106S;ENSP00000425867:T37S;ENSP00000427039:T3S;ENSP00000423669:T37S;ENSP00000424208:T37S;ENSP00000425763:T119S	ENSP00000264771:T119S	T	+	2	0	TMEM175	935483	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	2.394000	0.44450	1.255000	0.44051	0.536000	0.68110	ACC		0.612	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		9	215	0	0	0	0.001368	0	9	215				
ADD1	118	broad.mit.edu	37	4	2883688	2883689	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:2883688_2883689GG>TT	ENST00000398129.1	+	2	279_280	c.259_260GG>TT	c.(259-261)GGc>TTc	p.G87F	ADD1_ENST00000398123.2_Missense_Mutation_p.G87F|ADD1_ENST00000503455.2_Missense_Mutation_p.G87F|ADD1_ENST00000398125.1_Missense_Mutation_p.G87F|ADD1_ENST00000355842.3_Missense_Mutation_p.G87F|ADD1_ENST00000264758.7_Missense_Mutation_p.G87F|ADD1_ENST00000446856.1_Missense_Mutation_p.G87F|ADD1_ENST00000513328.2_Missense_Mutation_p.G87F			P35611	ADDA_HUMAN	adducin 1 (alpha)	87					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.G87F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAACCCCACAGGCCTATTGGCA	0.406																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GGC>TTC		adducin 1 (alpha) isoform a																																				SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2883688_2883689GG>TT	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	Exception_encountered	4.37:g.2883688_2883689delinsTT	ENSP00000381197:p.Gly87Phe					ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G87F|ADD1_uc003gfo.2_Missense_Mutation_p.G87F|ADD1_uc003gfp.2_Missense_Mutation_p.G87F|ADD1_uc003gfq.2_Missense_Mutation_p.G87F|ADD1_uc003gfs.2_Missense_Mutation_p.G87F|ADD1_uc003gft.3_Missense_Mutation_p.G87F	p.G87F	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	447_448	+			87					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	DNP	ENST00000398129.1	37	c.259_260GG>TT	CCDS43205.1																																																																																				0.406	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		22	133	0	0	0	0.004672	0	22	133				
MSANTD1	345222	broad.mit.edu	37	4	3265616	3265616	+	IGR	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:3265616C>T	ENST00000510580.1	+	0	2039							Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1									p.S245F(1)		endometrium(1)|lung(2)	3						acacagatatcccgttgttac	0.488																																							uc003ggt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)TCC>TTC		hypothetical protein LOC345222 isoform b							386.0	332.0	351.0					4																	3265616		2203	4300	6503	SO:0001628	intergenic_variant	345222							g.chr4:3265616C>T		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977		4.37:g.3265616C>T							p.S245F	NM_001012982	NP_001013000	Q6ZTZ1	CD044_HUMAN			4	917	+			245					C9J6V0	Missense_Mutation	SNP	ENST00000510580.1	37	c.734C>T																																																																																					0.488	MSANTD1-004	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000370925.1	NM_001012982		49	370	0	0	0	0.00361	0	49	370				
ADRA2C	152	broad.mit.edu	37	4	3769412	3769412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:3769412G>T	ENST00000330055.5	+	1	1288	c.1079G>T	c.(1078-1080)cGg>cTg	p.R360L	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	360					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R360Q(1)|p.R360L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGTCGCGCCGGCGCCGGGCG	0.746																																					Esophageal Squamous(12;454 628 4517 14479)	Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(1078-1080)CGG>CTG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						18.0	20.0	19.0					4																	3769412		2025	4144	6169	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769412G>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1079G>T	4.37:g.3769412G>T	ENSP00000386069:p.Arg360Leu					ADRA2C_uc010icx.2_Intron	p.R360L	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1117	+			360			Cytoplasmic (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1079G>T	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559342	0.27827	.	.	ENSG00000184160	ENST00000330055	T	0.65732	-0.17	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.62060	0.2397	M	0.62088	1.915	0.36243	D	0.853377	P	0.49090	0.919	P	0.49332	0.607	T	0.65751	-0.6092	9	0.28530	T	0.3	.	7.9953	0.30265	0.1146:0.0:0.8854:0.0	.	360	P18825	ADA2C_HUMAN	L	360	ENSP00000386069:R360L	ENSP00000386069:R360L	R	+	2	0	ADRA2C	3739210	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	6.835000	0.75344	1.696000	0.51158	0.511000	0.50034	CGG		0.746	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	17	1	0	0.00024832	0.009096	0.000278935	3	17				
ZBTB49	166793	broad.mit.edu	37	4	4304252	4304252	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:4304252G>T	ENST00000337872.4	+	3	810	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ZBTB49_ENST00000355834.3_Missense_Mutation_p.G230V|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	230					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.G230V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CACGCAGCTGGTCCCAGTCAG	0.468																																							uc003ghu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(688-690)GGT>GTT		zinc finger protein 509							80.0	76.0	78.0					4																	4304252		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304252G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.689G>T	4.37:g.4304252G>T	ENSP00000338807:p.Gly230Val					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'UTR	p.G230V	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			3	864	+			230					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.689G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517149	0.27123	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.12774	2.65;2.95	5.42	5.42	0.78866	.	0.281878	0.31323	N	0.007852	T	0.09423	0.0232	N	0.22421	0.69	0.46149	D	0.998892	B	0.09022	0.002	B	0.08055	0.003	T	0.15492	-1.0435	10	0.35671	T	0.21	.	9.4286	0.38595	0.0751:0.1449:0.78:0.0	.	230	Q6ZSB9	ZBT49_HUMAN	V	230	ENSP00000348091:G230V;ENSP00000338807:G230V	ENSP00000338807:G230V	G	+	2	0	ZBTB49	4355153	0.761000	0.28439	0.336000	0.25522	0.368000	0.29767	2.574000	0.46016	2.709000	0.92574	0.591000	0.81541	GGT		0.468	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		19	111	1	0	1.64293e-13	0.00333	2.62869e-13	19	111				
STK32B	55351	broad.mit.edu	37	4	5332984	5332984	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:5332984G>C	ENST00000282908.5	+	4	720	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	STK32B_ENST00000510398.1_Missense_Mutation_p.V53L|STK32B_ENST00000512636.1_Missense_Mutation_p.V53L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.V100L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GTTCATGGTGGTGGACCTGCT	0.552																																							uc003gih.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(298-300)GTG>CTG		serine/threonine kinase 32B							182.0	139.0	154.0					4																	5332984		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5332984G>C	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.298G>C	4.37:g.5332984G>C	ENSP00000282908:p.Val100Leu					STK32B_uc010ida.1_Missense_Mutation_p.V53L	p.V100L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			4	362	+			100			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.298G>C	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725556	0.68959	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.21031	2.03;2.03;2.03	5.05	5.05	0.67936	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	0.37219	U	0.002192	T	0.15565	0.0375	N	0.00459	-1.475	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.57353	-0.7826	10	0.15499	T	0.54	.	17.7695	0.88487	0.0:0.0:1.0:0.0	.	100	Q9NY57	ST32B_HUMAN	L	100;53;53	ENSP00000282908:V100L;ENSP00000423209:V53L;ENSP00000420984:V53L	ENSP00000282908:V100L	V	+	1	0	STK32B	5383885	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.102000	0.94226	2.487000	0.83934	0.462000	0.41574	GTG		0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		27	97	0	0	0	0.008361	0	27	97				
HTRA3	94031	broad.mit.edu	37	4	8307701	8307701	+	Silent	SNP	C	C	A	rs577535097		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8307701C>A	ENST00000307358.2	+	9	1404	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	400	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G400G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TTGGCAGAGGCGGCATCCAAG	0.632																																							uc003gla.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1198-1200)GGC>GGA		HtrA serine peptidase 3 precursor							94.0	86.0	89.0					4																	8307701		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307701C>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1200C>A	4.37:g.8307701C>A							p.G400G	NM_053044	NP_444272	P83110	HTRA3_HUMAN			9	1404	+			400			PDZ.		Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.1200C>A	CCDS3400.1																																																																																				0.632	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		12	172	1	0	0.000219431	0.00245	0.00024719	12	172				
ACOX3	8310	broad.mit.edu	37	4	8418141	8418141	+	Silent	SNP	C	C	T	rs367983038		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8418141C>T	ENST00000356406.5	-	2	185	c.108G>A	c.(106-108)gcG>gcA	p.A36A	ACOX3_ENST00000413009.2_Silent_p.A36A|ACOX3_ENST00000503233.1_Silent_p.A36A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	36					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A36A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CCGTGAACAGCGCCAGCTCCT	0.597																																							uc010idk.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(106-108)GCG>GCA		acyl-Coenzyme A oxidase 3 isoform a		C	,	1,4405	2.1+/-5.4	0,1,2202	82.0	81.0	81.0		108,108	1.3	0.2	4		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	36/625,36/701	8418141	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8418141C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.108G>A	4.37:g.8418141C>T						ACOX3_uc003glc.3_Silent_p.A36A|ACOX3_uc003gld.3_Silent_p.A36A|ACOX3_uc003gle.1_5'Flank	p.A36A	NM_003501	NP_003492	O15254	ACOX3_HUMAN			2	253	-			36					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.108G>A	CCDS3401.1																																																																																				0.597	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			20	107	0	0	0	0.010504	0	20	107				
GPR78	27201	broad.mit.edu	37	4	8584301	8584301	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8584301C>A	ENST00000382487.4	+	2	1129	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	238					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R238S(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCGCCGCCACCGCGCCACCAG	0.627																																							uc003glk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)	6						c.(712-714)CGC>AGC		G protein-coupled receptor 78							122.0	103.0	110.0					4																	8584301		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8584301C>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.712C>A	4.37:g.8584301C>A	ENSP00000371927:p.Arg238Ser					CPZ_uc003gll.2_RNA	p.R238S	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			2	1131	+			238			Cytoplasmic (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.712C>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280158	0.40294	.	.	ENSG00000155269	ENST00000382487	T	0.42513	0.97	2.22	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.075120	0.46758	U	0.000269	T	0.49881	0.1583	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.42275	-0.9461	10	0.87932	D	0	.	7.0148	0.24883	0.1678:0.5273:0.3049:0.0	.	238	Q96P69	GPR78_HUMAN	S	238	ENSP00000371927:R238S	ENSP00000371927:R238S	R	+	1	0	GPR78	8635201	0.097000	0.21791	0.000000	0.03702	0.002000	0.02628	0.203000	0.17315	-0.301000	0.08882	0.563000	0.77884	CGC		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			14	120	1	0	3.99206e-14	0.007413	6.48215e-14	14	120				
BOD1L1	259282	broad.mit.edu	37	4	13603176	13603176	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13603176T>C	ENST00000040738.5	-	10	5483	c.5348A>G	c.(5347-5349)gAt>gGt	p.D1783G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1783						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1783G(1)									TTCTGTACCATCATTCACAGA	0.527																																							uc003gmz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5347-5349)GAT>GGT		biorientation of chromosomes in cell division							274.0	266.0	269.0					4																	13603176		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603176T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5348A>G	4.37:g.13603176T>C	ENSP00000040738:p.Asp1783Gly					BOD1L_uc010idr.1_Missense_Mutation_p.D1120G	p.D1783G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5465	-			1783					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5348A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404377	0.42613	.	.	ENSG00000038219	ENST00000040738	T	0.21543	2.0	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000016	T	0.31104	0.0786	L	0.32530	0.975	0.24684	N	0.993342	D	0.89917	1.0	D	0.80764	0.994	T	0.06954	-1.0798	10	0.87932	D	0	-12.0165	7.6574	0.28383	0.0:0.133:0.0:0.867	.	1783	Q8NFC6	BOD1L_HUMAN	G	1783	ENSP00000040738:D1783G	ENSP00000040738:D1783G	D	-	2	0	BOD1L	13212274	0.994000	0.37717	0.046000	0.18839	0.530000	0.34684	3.358000	0.52284	1.914000	0.55421	0.459000	0.35465	GAT		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		29	530	0	0	0	0.008361	0	29	530				
BOD1L1	259282	broad.mit.edu	37	4	13603372	13603372	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13603372C>A	ENST00000040738.5	-	10	5287	c.5152G>T	c.(5152-5154)Ggt>Tgt	p.G1718C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1718						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1718C(1)									TTTTTGGGACCCATTCTCATC	0.483																																							uc003gmz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5152-5154)GGT>TGT		biorientation of chromosomes in cell division							163.0	160.0	161.0					4																	13603372		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603372C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5152G>T	4.37:g.13603372C>A	ENSP00000040738:p.Gly1718Cys					BOD1L_uc010idr.1_Missense_Mutation_p.G1055C	p.G1718C	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5269	-			1718					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5152G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	9.851	1.193609	0.22037	.	.	ENSG00000038219	ENST00000040738	T	0.10382	2.88	4.8	3.0	0.34707	.	0.221099	0.32041	N	0.006661	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999982	B	0.20368	0.044	B	0.20384	0.029	T	0.23833	-1.0177	10	0.87932	D	0	-0.6985	7.8518	0.29459	0.1607:0.7555:0.0:0.0838	.	1718	Q8NFC6	BOD1L_HUMAN	C	1718	ENSP00000040738:G1718C	ENSP00000040738:G1718C	G	-	1	0	BOD1L	13212470	0.672000	0.27530	0.343000	0.25615	0.773000	0.43773	1.368000	0.34216	1.101000	0.41535	0.555000	0.69702	GGT		0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		37	206	1	0	6.02846e-25	0.003271	1.12669e-24	37	206				
BOD1L1	259282	broad.mit.edu	37	4	13606630	13606630	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13606630G>A	ENST00000040738.5	-	10	2029	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	632	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R632W(1)									GAAAGTCTCCGGGCAGGTTTA	0.363																																							uc003gmz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(1894-1896)CGG>TGG		biorientation of chromosomes in cell division							59.0	60.0	59.0					4																	13606630		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606630G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1894C>T	4.37:g.13606630G>A	ENSP00000040738:p.Arg632Trp					BOD1L_uc010idr.1_5'UTR	p.R632W	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2011	-			632			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1894C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959560	0.53400	.	.	ENSG00000038219	ENST00000040738	T	0.12147	2.71	5.51	2.72	0.32119	.	0.000000	0.38164	N	0.001785	T	0.25457	0.0619	L	0.29908	0.895	0.27503	N	0.95191	D	0.89917	1.0	D	0.85130	0.997	T	0.10567	-1.0624	10	0.87932	D	0	-3.4456	14.9176	0.70810	0.0:0.0:0.3296:0.6703	.	632	Q8NFC6	BOD1L_HUMAN	W	632	ENSP00000040738:R632W	ENSP00000040738:R632W	R	-	1	2	BOD1L	13215728	0.999000	0.42202	0.973000	0.42090	0.997000	0.91878	1.534000	0.36051	0.233000	0.21120	0.563000	0.77884	CGG		0.363	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		12	55	0	0	0	0.001368	0	12	55				
LDB2	9079	broad.mit.edu	37	4	16590406	16590406	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:16590406A>T	ENST00000304523.5	-	4	781	c.458T>A	c.(457-459)aTg>aAg	p.M153K	LDB2_ENST00000515064.1_Missense_Mutation_p.M153K|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000502640.1_Missense_Mutation_p.M153K|LDB2_ENST00000503178.2_Missense_Mutation_p.M29K|LDB2_ENST00000441778.2_Missense_Mutation_p.M153K	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	153					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.M153K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTTGATTCTCATGAGATCATC	0.408																																							uc003goz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(457-459)ATG>AAG		LIM domain binding 2 isoform a							205.0	176.0	186.0					4																	16590406		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590406A>T	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.458T>A	4.37:g.16590406A>T	ENSP00000306772:p.Met153Lys					LDB2_uc003gpa.2_Missense_Mutation_p.M153K|LDB2_uc003gpb.2_Missense_Mutation_p.M153K|LDB2_uc011bxh.1_Missense_Mutation_p.M153K|LDB2_uc010iee.2_Missense_Mutation_p.M153K|LDB2_uc003goy.2_Missense_Mutation_p.M29K|LDB2_uc011bxi.1_Missense_Mutation_p.M29K	p.M153K	NM_001290	NP_001281	O43679	LDB2_HUMAN			4	774	-			153					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.458T>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.926836|4.926836	0.92319|0.92319	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79251|.	0.4414|.	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;D|.	0.89917|.	0.996;0.845;1.0;1.0;1.0;0.985;0.981|.	D;P;D;D;D;D;D|.	0.91635|.	0.995;0.855;0.992;0.999;0.986;0.992;0.987|.	T|.	0.82285|.	-0.0533|.	9|.	0.62326|.	D|.	0.03|.	-16.0754|-16.0754	14.8185|14.8185	0.70052|0.70052	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	29;119;153;153;153;153;129|.	B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3|.	.;.;.;.;.;LDB2_HUMAN;.|.	K|R	153;153;153;153;29;129|75	.|.	ENSP00000306772:M153K|.	M|X	-|-	2|1	0|0	LDB2|LDB2	16199504|16199504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.287000|9.287000	0.95975|0.95975	2.158000|2.158000	0.67659|0.67659	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.408	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			16	82	0	0	0	0.003163	0	16	82				
DCAF16	54876	broad.mit.edu	37	4	17805188	17805188	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:17805188C>G	ENST00000382247.1	-	3	1637	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	DCAF16_ENST00000536863.1_Missense_Mutation_p.E193Q|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	193					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.E193Q(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTGATGGGTTCAGTACGAGTT	0.408																																							uc003gpn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)GAA>CAA		DDB1 and CUL4 associated factor 16							213.0	197.0	202.0					4																	17805188		2203	4300	6503	SO:0001583	missense	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805188C>G	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.577G>C	4.37:g.17805188C>G	ENSP00000371682:p.Glu193Gln					DCAF16_uc003gpo.2_RNA	p.E193Q	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN			3	1638	-			193					B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	c.577G>C	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392718	0.11638	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.38887	1.11;1.11	3.82	3.82	0.43975	.	.	.	.	.	T	0.42471	0.1204	N	0.08118	0	0.25058	N	0.991089	D	0.69078	0.997	D	0.70487	0.969	T	0.33214	-0.9877	9	0.87932	D	0	-6.5552	11.5213	0.50553	0.0:1.0:0.0:0.0	.	193	Q9NXF7	DCA16_HUMAN	Q	193	ENSP00000371682:E193Q;ENSP00000445736:E193Q	ENSP00000371682:E193Q	E	-	1	0	DCAF16	17414286	0.963000	0.33076	0.978000	0.43139	0.234000	0.25298	0.608000	0.24223	2.434000	0.82447	0.555000	0.69702	GAA		0.408	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		20	87	0	0	0	0.002299	0	20	87				
GPR125	166647	broad.mit.edu	37	4	22436933	22436933	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:22436933C>A	ENST00000334304.5	-	10	1713		c.e10+1		GPR125_ENST00000508133.1_Splice_Site|GPR125_ENST00000282943.5_Splice_Site|GPR125_ENST00000502482.1_Splice_Site	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGAGAAGTACCTCTTTTGAT	0.328																																							uc003gqm.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e10+1		G protein-coupled receptor 125 precursor							84.0	85.0	85.0					4																	22436933		2203	4300	6503	SO:0001630	splice_region_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22436933C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1443+1G>T	4.37:g.22436933C>A						GPR125_uc010ieo.1_Splice_Site_p.E355_splice|GPR125_uc003gqn.1_Splice_Site_p.E255_splice|GPR125_uc003gqo.2_Splice_Site_p.E481_splice	p.E481_splice	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			10	1708	-		Breast(46;0.198)						Q6UXK9|Q86SQ5|Q8TC55	Splice_Site	SNP	ENST00000334304.5	37	c.1443_splice	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605486	0.66445	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2098	0.93749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR125	22046031	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.849000	0.75414	2.528000	0.85240	0.563000	0.77884	.		0.328	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		Intron	13	59	1	0	0.00136819	0.001368	0.00148027	13	59				
GABRA2	2555	broad.mit.edu	37	4	46314638	46314638	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:46314638C>A	ENST00000510861.1	-	5	524	c.351G>T	c.(349-351)atG>atT	p.M117I	GABRA2_ENST00000381620.4_Missense_Mutation_p.M117I|GABRA2_ENST00000515082.1_Missense_Mutation_p.M117I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M117I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M62I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M117I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M117I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	117					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.M117I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTTGCTAGCCATTAAATTGT	0.323																																							uc003gxc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(349-351)ATG>ATT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						68.0	73.0	71.0					4																	46314638		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314638C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.351G>T	4.37:g.46314638C>A	ENSP00000421828:p.Met117Ile					GABRA2_uc010igc.2_Missense_Mutation_p.M117I|GABRA2_uc011bzc.1_Missense_Mutation_p.M62I|GABRA2_uc003gxe.2_Missense_Mutation_p.M117I	p.M117I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			4	1024	-			117			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.351G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352921	0.82132	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.64404	1.975	0.80722	D	1	B;B;B	0.33777	0.425;0.171;0.121	B;B;B	0.43445	0.42;0.193;0.238	T	0.82155	-0.0597	10	0.87932	D	0	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	62;117;117	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	117;117;117;117;62;117;117;117;117	ENSP00000421828:M117I;ENSP00000421300:M117I;ENSP00000371033:M117I;ENSP00000348897:M117I;ENSP00000444409:M62I;ENSP00000427603:M117I;ENSP00000423840:M117I;ENSP00000424362:M117I;ENSP00000424093:M117I	ENSP00000348897:M117I	M	-	3	0	GABRA2	46009395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	ATG		0.323	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			17	38	1	0	5.01169e-05	0.00499	5.78137e-05	17	38				
ATP10D	57205	broad.mit.edu	37	4	47570974	47570974	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:47570974G>T	ENST00000273859.3	+	16	3243	c.2974G>T	c.(2974-2976)Ggg>Tgg	p.G992W		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	992					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G992W(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCGGGACTCAGGGTTACGAGC	0.483																																							uc003gxk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2974-2976)GGG>TGG		ATPase, class V, type 10D							72.0	78.0	76.0					4																	47570974		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47570974G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2974G>T	4.37:g.47570974G>T	ENSP00000273859:p.Gly992Trp					ATP10D_uc003gxl.1_Missense_Mutation_p.G240W	p.G992W	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			16	3138	+			992			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2974G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641673	0.47153	.	.	ENSG00000145246	ENST00000273859	T	0.79454	-1.27	5.26	3.47	0.39725	HAD-like domain (1);	0.651970	0.16782	N	0.199756	D	0.83658	0.5302	M	0.72353	2.195	0.09310	N	0.999992	D	0.59767	0.986	P	0.58391	0.838	T	0.74822	-0.3534	10	0.72032	D	0.01	-7.8544	11.2967	0.49282	0.078:0.1391:0.7829:0.0	.	992	Q9P241	AT10D_HUMAN	W	992	ENSP00000273859:G992W	ENSP00000273859:G992W	G	+	1	0	ATP10D	47265731	0.040000	0.19996	0.004000	0.12327	0.008000	0.06430	1.920000	0.40025	1.454000	0.47793	0.563000	0.77884	GGG		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		12	109	1	0	0.00185496	0.001855	0.0020036	12	109				
FRYL	285527	broad.mit.edu	37	4	48621362	48621362	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:48621362A>G	ENST00000503238.1	-	4	339	c.340T>C	c.(340-342)Tat>Cat	p.Y114H	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Y114H|FRYL_ENST00000537810.1_Missense_Mutation_p.Y114H|FRYL_ENST00000507711.1_Missense_Mutation_p.Y114H			O94915	FRYL_HUMAN	FRY-like	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Y114H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAAGAAGATAATCTCTTTCA	0.333																																							uc003gyh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(340-342)TAT>CAT		furry-like							148.0	136.0	140.0					4																	48621362		1837	4080	5917	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621362A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.340T>C	4.37:g.48621362A>G	ENSP00000426064:p.Tyr114His					FRYL_uc003gyk.2_Missense_Mutation_p.Y114H|FRYL_uc003gyl.1_Missense_Mutation_p.Y165H	p.Y114H	NM_015030	NP_055845	O94915	FRYL_HUMAN			7	945	-			114					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.340T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557691	0.86231	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.46451	1.84;1.84;1.84;0.87	5.87	5.87	0.94306	.	0.000000	0.64402	U	0.000008	T	0.61652	0.2364	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.994	D;P;D	0.74348	0.983;0.809;0.962	T	0.58399	-0.7643	10	0.35671	T	0.21	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	165;114;114	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	H	114	ENSP00000426064:Y114H;ENSP00000351113:Y114H;ENSP00000441114:Y114H;ENSP00000421584:Y114H	ENSP00000351113:Y114H	Y	-	1	0	FRYL	48316119	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.371000	0.80710	0.533000	0.62120	TAT		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	23	0	0	0	0.001984	0	7	23				
CWH43	80157	broad.mit.edu	37	4	49032885	49032885	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:49032885C>A	ENST00000226432.4	+	11	1599	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P	CWH43_ENST00000513409.1_Silent_p.P445P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	472					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.P472P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTTCTAAGCCCTATATGGGGA	0.403																																							uc003gyv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1414-1416)CCC>CCA		cell wall biogenesis 43 C-terminal homolog							137.0	138.0	137.0					4																	49032885		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49032885C>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1416C>A	4.37:g.49032885C>A						CWH43_uc011bzl.1_Silent_p.P445P	p.P472P	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			11	1598	+			472					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1416C>A	CCDS3486.1																																																																																				0.403	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		21	124	1	0	2.39556e-15	0.00278	4.0055e-15	21	124				
LRRC66	339977	broad.mit.edu	37	4	52860889	52860889	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:52860889T>G	ENST00000343457.3	-	4	2305	c.2299A>C	c.(2299-2301)Aag>Cag	p.K767Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	767						integral component of membrane (GO:0016021)		p.K767Q(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATTCTTGCATTTCCCT	0.463																																							uc003gzi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2299-2301)AAG>CAG		leucine rich repeat containing 66							88.0	87.0	87.0					4																	52860889		1906	4132	6038	SO:0001583	missense	339977					integral to membrane		g.chr4:52860889T>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2299A>C	4.37:g.52860889T>G	ENSP00000341944:p.Lys767Gln						p.K767Q	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2312	-			767						Missense_Mutation	SNP	ENST00000343457.3	37	c.2299A>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274875	0.23307	.	.	ENSG00000188993	ENST00000343457	T	0.28666	1.6	4.67	2.86	0.33363	.	0.547984	0.16733	N	0.201759	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.18335	-1.0340	10	0.72032	D	0.01	-15.4039	7.2965	0.26395	0.0:0.7978:0.0:0.2022	.	767	Q68CR7	LRC66_HUMAN	Q	767	ENSP00000341944:K767Q	ENSP00000341944:K767Q	K	-	1	0	LRRC66	52555646	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.192000	0.09587	0.676000	0.31285	-0.959000	0.02639	AAG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		12	126	0	0	0	0.001855	0	12	126				
LRRC66	339977	broad.mit.edu	37	4	52861975	52861975	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:52861975A>G	ENST00000343457.3	-	4	1219	c.1213T>C	c.(1213-1215)Tgg>Cgg	p.W405R		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	405						integral component of membrane (GO:0016021)		p.W405R(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTTTGCCACAGTCTGTCA	0.562																																							uc003gzi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1213-1215)TGG>CGG		leucine rich repeat containing 66							77.0	79.0	79.0					4																	52861975		1982	4155	6137	SO:0001583	missense	339977					integral to membrane		g.chr4:52861975A>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1213T>C	4.37:g.52861975A>G	ENSP00000341944:p.Trp405Arg						p.W405R	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1226	-			405						Missense_Mutation	SNP	ENST00000343457.3	37	c.1213T>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	A	9.962	1.223172	0.22457	.	.	ENSG00000188993	ENST00000343457	T	0.40756	1.02	4.44	1.98	0.26296	.	0.355245	0.21008	N	0.081728	T	0.26810	0.0656	L	0.41710	1.295	0.26670	N	0.971755	P	0.37015	0.578	B	0.31495	0.131	T	0.09684	-1.0663	10	0.36615	T	0.2	-1.6165	6.3497	0.21369	0.7879:0.0:0.2121:0.0	.	405	Q68CR7	LRC66_HUMAN	R	405	ENSP00000341944:W405R	ENSP00000341944:W405R	W	-	1	0	LRRC66	52556732	0.999000	0.42202	0.986000	0.45419	0.015000	0.08874	1.811000	0.38942	0.211000	0.20683	0.383000	0.25322	TGG		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		18	157	0	0	0	0.006122	0	18	157				
PDGFRA	5156	broad.mit.edu	37	4	55139722	55139722	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55139722C>G	ENST00000257290.5	+	10	1714	c.1383C>G	c.(1381-1383)tcC>tcG	p.S461S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	461	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S461S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATGAAACTTCCTGGACTATTT	0.488			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1381-1383)TCC>TCG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						72.0	74.0	73.0					4																	55139722		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139722C>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1383C>G	4.37:g.55139722C>G		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.S355S|PDGFRA_uc003ham.2_RNA	p.S461S	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1714	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		461			Ig-like C2-type 5.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1383C>G	CCDS3495.1																																																																																				0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		9	78	0	0	0	0.006214	0	9	78				
PDGFRA	5156	broad.mit.edu	37	4	55155037	55155037	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55155037G>A	ENST00000257290.5	+	20	3077	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A676T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	916	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A916T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTACCGGATGGCCAAGCCTGA	0.557			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2746-2748)GCC>ACC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						90.0	83.0	86.0					4																	55155037		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55155037G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2746G>A	4.37:g.55155037G>A	ENSP00000257290:p.Ala916Thr	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.A676T	p.A916T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		20	3077	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		916			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2746G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810767	0.50421	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.82984	-1.67;-1.67	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31976	U	0.006773	T	0.68265	0.2982	N	0.11284	0.12	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.63097	-0.6713	10	0.17369	T	0.5	.	14.4328	0.67261	0.0707:0.0:0.9293:0.0	.	916	P16234	PGFRA_HUMAN	T	676;916	ENSP00000423325:A676T;ENSP00000257290:A916T	ENSP00000423325:A676T	A	+	1	0	FIP1L1;PDGFRA	54849794	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.844000	0.55873	2.885000	0.99019	0.655000	0.94253	GCC		0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		6	60	0	0	0	0.001168	0	6	60				
KDR	3791	broad.mit.edu	37	4	55968157	55968157	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55968157G>A	ENST00000263923.4	-	15	2468	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	725	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R725C(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACTCTGCGGATAGTGAGG	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2173-2175)CGC>TGC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						133.0	124.0	127.0					4																	55968157		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968157G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2173C>T	4.37:g.55968157G>A	ENSP00000263923:p.Arg725Cys	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R725C	p.R725C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2475	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		725			Ig-like C2-type 7.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2173C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226106	0.95173	.	.	ENSG00000128052	ENST00000263923	T	0.68479	-0.33	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055431	0.85682	D	0.000000	D	0.83234	0.5210	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.83708	0.0186	10	0.72032	D	0.01	.	20.4097	0.99016	0.0:0.0:1.0:0.0	.	725	P35968	VGFR2_HUMAN	C	725	ENSP00000263923:R725C	ENSP00000263923:R725C	R	-	1	0	KDR	55662914	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.912000	0.87465	2.828000	0.97474	0.650000	0.86243	CGC		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			18	129	0	0	0	0.008871	0	18	129				
CEP135	9662	broad.mit.edu	37	4	56865740	56865740	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:56865740G>A	ENST00000257287.4	+	17	2333	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	737					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.D737N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAAAAAGACTTTCTCCA	0.333																																							uc003hbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2209-2211)GAC>AAC		centrosome protein 4							73.0	81.0	78.0					4																	56865740		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56865740G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2209G>A	4.37:g.56865740G>A	ENSP00000257287:p.Asp737Asn					CEP135_uc003hbj.2_Missense_Mutation_p.D443N	p.D737N	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			17	2443	+	Glioma(25;0.08)|all_neural(26;0.101)		737			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.2209G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638308	0.87760	.	.	ENSG00000174799	ENST00000257287	T	0.55052	0.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.65627	-0.6122	10	0.23891	T	0.37	.	18.0678	0.89396	0.0:0.0:1.0:0.0	.	737	Q66GS9	CP135_HUMAN	N	737	ENSP00000257287:D737N	ENSP00000257287:D737N	D	+	1	0	CEP135	56560497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.504000	0.84457	0.644000	0.83932	GAC		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		9	90	0	0	0	0.006214	0	9	90				
LPHN3	23284	broad.mit.edu	37	4	62812745	62812745	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:62812745G>T	ENST00000514591.1	+	15	2658	c.2329G>T	c.(2329-2331)Gtc>Ttc	p.V777F	LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.V845F|LPHN3_ENST00000506720.1_Missense_Mutation_p.V845F|LPHN3_ENST00000506700.1_Missense_Mutation_p.V777F|LPHN3_ENST00000508693.1_Missense_Mutation_p.V845F|LPHN3_ENST00000509896.1_Missense_Mutation_p.V845F|LPHN3_ENST00000545650.1_Missense_Mutation_p.V777F|LPHN3_ENST00000507625.1_Missense_Mutation_p.V845F|LPHN3_ENST00000504896.1_Missense_Mutation_p.V777F|LPHN3_ENST00000514157.1_Missense_Mutation_p.V777F|LPHN3_ENST00000514996.1_Missense_Mutation_p.V777F|LPHN3_ENST00000506746.1_Missense_Mutation_p.V845F|LPHN3_ENST00000512091.2_Missense_Mutation_p.V777F|LPHN3_ENST00000508946.1_Missense_Mutation_p.V777F|LPHN3_ENST00000507164.1_Missense_Mutation_p.V845F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	764					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V777F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTGTTATTGTCAATTCCCC	0.393																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2329-2331)GTC>TTC		latrophilin 3 precursor							207.0	193.0	197.0					4																	62812745		1884	4109	5993	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812745G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2329G>T	4.37:g.62812745G>T	ENSP00000422533:p.Val777Phe					LPHN3_uc003hcq.3_Missense_Mutation_p.V777F|LPHN3_uc003hct.2_Missense_Mutation_p.V170F	p.V777F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2502	+			764			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2329G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.980463|4.980463	0.92982|0.92982	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Domain of unknown function DUF3497 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.997	T|T	0.11817|0.11817	-1.0572|-1.0572	5|10	.|0.87932	.|D	.|0	.|.	19.4278|19.4278	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|777;764;777	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|F	234|777;777;845;845;777;777;764;777;845;845;845;777;777;777;845;845;777	.|ENSP00000423388:V777F;ENSP00000422533:V777F;ENSP00000423787:V845F;ENSP00000425033:V845F;ENSP00000424120:V777F;ENSP00000439831:V777F;ENSP00000421476:V845F;ENSP00000424030:V845F;ENSP00000421372:V845F;ENSP00000425201:V777F;ENSP00000423434:V777F;ENSP00000421627:V777F;ENSP00000420931:V845F;ENSP00000425884:V845F;ENSP00000424258:V777F	.|ENSP00000280009:V777F	C|V	+|+	2|1	0|0	LPHN3|LPHN3	62495340|62495340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.869000|9.869000	0.99810|0.99810	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	TGT|GTC		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			29	154	1	0	3.57733e-08	0.009535	4.7601e-08	29	154				
EPHA5	2044	broad.mit.edu	37	4	66280039	66280039	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:66280039G>T	ENST00000273854.3	-	7	2250	c.1650C>A	c.(1648-1650)gtC>gtA	p.V550V	EPHA5_ENST00000354839.4_Silent_p.V550V|EPHA5_ENST00000432638.2_Silent_p.V386V|EPHA5_ENST00000511294.1_Silent_p.V550V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	550	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.V550V(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						TTCGACTGAAGACACCATAGC	0.413										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.(1648-1650)GTC>GTA		ephrin receptor EphA5 isoform a precursor							173.0	143.0	153.0					4																	66280039		2203	4300	6503	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.chr4:66280039G>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.1650C>A	4.37:g.66280039G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.V481V|EPHA5_uc003hcz.2_Silent_p.V550V|EPHA5_uc011cah.1_Silent_p.V550V|EPHA5_uc011cai.1_Silent_p.V550V|EPHA5_uc003hda.2_Silent_p.V550V	p.V550V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			7	1843	-			550			Extracellular (Potential).|Fibronectin type-III 2.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1650C>A	CCDS3513.1																																																																																				0.413	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		14	114	1	0	0.000308642	0.003163	0.000343751	14	114				
UBA6	55236	broad.mit.edu	37	4	68504786	68504786	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:68504786C>A	ENST00000322244.5	-	19	1670	c.1611G>T	c.(1609-1611)aaG>aaT	p.K537N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	537					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.K537N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGCATCTATCTTTATTTGAG	0.308																																							uc003hdg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1609-1611)AAG>AAT		ubiquitin-activating enzyme E1-like 2							148.0	134.0	139.0					4																	68504786		2202	4299	6501	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68504786C>A	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.1611G>T	4.37:g.68504786C>A	ENSP00000313454:p.Lys537Asn					UBA6_uc003hdh.1_Missense_Mutation_p.K63N	p.K537N	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			19	1663	-			537					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1611G>T	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.583|6.583	0.475895|0.475895	0.12521|0.12521	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.43294|.	0.95|.	5.63|5.63	-2.53|-2.53	0.06326|0.06326	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.048238|.	0.85682|.	D|.	0.000000|.	T|T	0.43500|0.43500	0.1250|0.1250	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	P|.	0.36330|.	0.548|.	B|.	0.35655|.	0.207|.	T|T	0.14531|0.14531	-1.0469|-1.0469	10|5	0.11794|.	T|.	0.64|.	-4.978|-4.978	14.033|14.033	0.64627|0.64627	0.0:0.3695:0.0:0.6305|0.0:0.3695:0.0:0.6305	.|.	537|.	A0AVT1|.	UBA6_HUMAN|.	N|I	537|71	ENSP00000313454:K537N|.	ENSP00000313454:K537N|.	K|R	-|-	3|2	2|0	UBA6|UBA6	68187381|68187381	0.510000|0.510000	0.26171|0.26171	0.654000|0.654000	0.29608|0.29608	0.944000|0.944000	0.59088|0.59088	-0.244000|-0.244000	0.08903|0.08903	-1.064000|-1.064000	0.03172|0.03172	-0.218000|-0.218000	0.12543|0.12543	AAG|AGA		0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		9	49	1	0	3.07112e-06	0.000978	3.73776e-06	9	49				
TMPRSS11F	389208	broad.mit.edu	37	4	68934426	68934426	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:68934426G>C	ENST00000356291.2	-	7	724	c.665C>G	c.(664-666)gCc>gGc	p.A222G	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	222	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A222G(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						CTGGAGGCTGGCCTGCCATGG	0.502																																							uc003hdt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(664-666)GCC>GGC		transmembrane protease, serine 11F							111.0	94.0	100.0					4																	68934426		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934426G>C	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.665C>G	4.37:g.68934426G>C	ENSP00000348639:p.Ala222Gly					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.A222G	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			7	714	-			222			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.665C>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029115	0.54790	.	.	ENSG00000198092	ENST00000356291	D	0.95035	-3.59	5.73	4.89	0.63831	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.226075	0.31415	N	0.007700	D	0.91078	0.7192	L	0.31804	0.96	0.39690	D	0.971039	B	0.29212	0.237	B	0.36534	0.227	D	0.90081	0.4170	10	0.87932	D	0	.	10.724	0.46057	0.0875:0.0:0.9125:0.0	.	222	Q6ZWK6	TM11F_HUMAN	G	222	ENSP00000348639:A222G	ENSP00000348639:A222G	A	-	2	0	TMPRSS11F	68617021	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.095000	0.41729	1.441000	0.47550	0.655000	0.94253	GCC		0.502	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		8	36	0	0	0	0.006214	0	8	36				
UGT2B10	7365	broad.mit.edu	37	4	69693259	69693259	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:69693259G>T	ENST00000265403.7	+	5	1327	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D350Y	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	434					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.D434Y(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGTAATTAATGATCCTTCGTG	0.383																																					Melanoma(133;755 1763 25578 26334 46021)	Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(1300-1302)GAT>TAT		UDP glucuronosyltransferase 2B10 isoform 1							141.0	151.0	148.0					4																	69693259		1511	2709	4220	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693259G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1300G>T	4.37:g.69693259G>T	ENSP00000265403:p.Asp434Tyr					UGT2B10_uc011cam.1_Missense_Mutation_p.D350Y	p.D434Y	NM_001075	NP_001066	P36537	UDB10_HUMAN			5	1325	+			434					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1300G>T		.	.	.	.	.	.	.	.	.	.	g	12.50	1.957136	0.34565	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.67171	-0.25;2.97	2.25	-2.86	0.05717	.	0.185806	0.35970	U	0.002877	T	0.80297	0.4597	M	0.91612	3.225	0.23712	N	0.997041	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72384	-0.4310	10	0.87932	D	0	.	8.1045	0.30877	0.6453:0.0:0.3547:0.0	.	350;434	B4DPP1;P36537	.;UDB10_HUMAN	Y	434;350	ENSP00000265403:D434Y;ENSP00000413420:D350Y	ENSP00000265403:D434Y	D	+	1	0	UGT2B10	69727848	0.898000	0.30612	0.008000	0.14137	0.098000	0.18820	0.366000	0.20365	-0.795000	0.04462	0.184000	0.17185	GAT		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		13	98	1	0	6.72482e-11	0.003163	9.9582e-11	13	98				
UGT2B27P	54569	broad.mit.edu	37	4	69870792	69870793	+	IGR	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:69870792_69870793CC>AA								UGT2A3 (53283 upstream) : UGT2B7 (46400 downstream)																							ACTGCTCGATCCAAGGGCTTCA	0.406																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(1255-1260)CTGGAT>CTTTAT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;																																				SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870792_69870793CC>AA																													4.37:g.69870792_69870793delinsAA						UGT2B10_uc011can.1_Missense_Mutation_p.D336Y	p.D420Y			P36537	UDB10_HUMAN			9	1393_1394	-			457						Missense_Mutation	DNP		37	c.1257_1258GG>TT																																																																																				0	0.406									10	98	0	0	0	0.004672	0	10	98				
UGT2B7	7364	broad.mit.edu	37	4	69962824	69962824	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:69962824G>A	ENST00000508661.1	+	1	613	c.586G>A	c.(586-588)Gtt>Att	p.V196I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.V196I			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	196					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.V196I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTACGTACCTGTTGTTATGTC	0.363																																							uc003heg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(586-588)GTT>ATT		UDP glucuronosyltransferase 2B7 precursor							107.0	105.0	106.0					4																	69962824		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962824G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.586G>A	4.37:g.69962824G>A	ENSP00000427659:p.Val196Ile					UGT2B7_uc010ihq.2_Missense_Mutation_p.V196I	p.V196I	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	632	+			196					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.586G>A		.	.	.	.	.	.	.	.	.	.	G	2.502	-0.315052	0.05422	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60424	0.19;0.19	2.47	-4.95	0.03048	.	3.160210	0.03353	U	0.196480	T	0.49012	0.1532	L	0.55990	1.75	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.22880	0.042;0.012	T	0.23440	-1.0188	9	.	.	.	.	5.5554	0.17113	0.255:0.2643:0.4807:0.0	.	196;196	E9PBP8;P16662	.;UD2B7_HUMAN	I	196	ENSP00000304811:V196I;ENSP00000427659:V196I	.	V	+	1	0	UGT2B7	69997413	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.313000	0.19415	-2.322000	0.00640	0.205000	0.17691	GTT		0.363	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		12	55	0	0	0	0.000978	0	12	55				
CSN1S1	1446	broad.mit.edu	37	4	70810635	70810635	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:70810635A>T	ENST00000246891.4	+	15	519	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	CSN1S1_ENST00000507763.1_Missense_Mutation_p.Q148L|CSN1S1_ENST00000444405.3_Missense_Mutation_p.Q148L|CSN1S1_ENST00000507772.1_Missense_Mutation_p.Q149L|CSN1S1_ENST00000505782.1_Missense_Mutation_p.Q141L	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	157						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)	p.Q157L(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAATCATGCAGTATGTTCCT	0.418																																							uc003hep.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CAG>CTG		casein alpha s1 isoform 1							354.0	339.0	344.0					4																	70810635		1960	4147	6107	SO:0001583	missense	1446					extracellular region	protein binding|transporter activity	g.chr4:70810635A>T	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.470A>T	4.37:g.70810635A>T	ENSP00000246891:p.Gln157Leu					CSN1S1_uc003heq.1_Missense_Mutation_p.Q148L|CSN1S1_uc003her.1_Missense_Mutation_p.Q149L	p.Q157L	NM_001890	NP_001881	P47710	CASA1_HUMAN			15	519	+			157					A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.470A>T	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359272	0.41801	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.59638	0.3;0.29;0.29;0.3;0.36;0.25	4.28	0.642	0.17765	.	0.590042	0.14190	N	0.335419	T	0.50274	0.1606	M	0.64404	1.975	0.09310	N	1.0	B;P;P	0.39157	0.101;0.662;0.662	B;B;B	0.38655	0.112;0.278;0.278	T	0.56643	-0.7945	9	0.87932	D	0	-1.3298	5.6046	0.17373	0.4041:0.4427:0.0:0.1532	.	149;148;157	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	L	157;148;149;148;149;141;48	ENSP00000246891:Q157L;ENSP00000413157:Q148L;ENSP00000422611:Q148L;ENSP00000427490:Q149L;ENSP00000426684:Q141L;ENSP00000421314:Q48L	ENSP00000246891:Q157L	Q	+	2	0	CSN1S1	70845224	0.012000	0.17670	0.001000	0.08648	0.000000	0.00434	1.150000	0.31639	0.106000	0.17784	-0.316000	0.08728	CAG		0.418	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			13	237	0	0	0	0.004007	0	13	237				
MUC7	4589	broad.mit.edu	37	4	71346841	71346841	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71346841C>G	ENST00000304887.5	+	3	570	c.380C>G	c.(379-381)cCa>cGa	p.P127R	MUC7_ENST00000413702.1_Missense_Mutation_p.P127R|MUC7_ENST00000456088.1_Missense_Mutation_p.P127R|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	127	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)		p.P127R(1)		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)			ACTACCCTTCCAAATGTGACT	0.428																																							uc011cat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(379-381)CCA>CGA		mucin 7, secreted precursor							140.0	131.0	134.0					4																	71346841		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346841C>G	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.380C>G	4.37:g.71346841C>G	ENSP00000302021:p.Pro127Arg					MUC7_uc011cau.1_Missense_Mutation_p.P127R|MUC7_uc003hfj.2_Missense_Mutation_p.P127R|uc011cav.1_RNA	p.P127R	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	668	+			127			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.380C>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326587	0.24080	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.57273	0.43;0.41;0.43;0.43	2.48	1.61	0.23674	.	.	.	.	.	T	0.48732	0.1516	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	P	0.57101	0.813	T	0.32161	-0.9917	9	0.72032	D	0.01	-5.1462	6.4172	0.21723	0.2916:0.7084:0.0:0.0	.	127	Q8TAX7	MUC7_HUMAN	R	127	ENSP00000407422:P127R;ENSP00000427594:P127R;ENSP00000400585:P127R;ENSP00000302021:P127R	ENSP00000302021:P127R	P	+	2	0	MUC7	71381430	0.000000	0.05858	0.032000	0.17829	0.011000	0.07611	0.082000	0.14847	0.590000	0.29694	-0.181000	0.13052	CCA		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		21	160	0	0	0	0.00278	0	21	160				
MUC7	4589	broad.mit.edu	37	4	71347516	71347516	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71347516G>T	ENST00000304887.5	+	3	1245	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	MUC7_ENST00000413702.1_Missense_Mutation_p.G352V|MUC7_ENST00000456088.1_Missense_Mutation_p.G352V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352					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)		p.G352V(1)		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)			TCAGCTCCTGGCCAAAATAAA	0.378																																							uc011cat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1054-1056)GGC>GTC		mucin 7, secreted precursor							87.0	94.0	92.0					4																	71347516		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347516G>T	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.1055G>T	4.37:g.71347516G>T	ENSP00000302021:p.Gly352Val					MUC7_uc011cau.1_Missense_Mutation_p.G352V|MUC7_uc003hfj.2_Missense_Mutation_p.G352V|uc011cav.1_RNA	p.G352V	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1343	+			352					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1055G>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517762	0.00975	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.58652	0.32;0.32;0.32	2.92	-5.84	0.02318	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.04781	-1.0927	8	.	.	.	.	3.3357	0.07100	0.123:0.2719:0.4079:0.1972	.	352	Q8TAX7	MUC7_HUMAN	V	352	ENSP00000407422:G352V;ENSP00000400585:G352V;ENSP00000302021:G352V	.	G	+	2	0	MUC7	71382105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.549000	0.00217	-5.455000	0.00014	-2.230000	0.00291	GGC		0.378	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		16	126	1	0	1.45105e-14	0.006122	2.38171e-14	16	126				
AMTN	401138	broad.mit.edu	37	4	71384525	71384525	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71384525C>T	ENST00000339336.4	+	2	161	c.31C>T	c.(31-33)Cta>Tta	p.L11L	AMTN_ENST00000504451.1_Silent_p.L11L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	11					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)		p.L11L(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GTTTTGTCTTCTAGGATCAAC	0.383																																							uc003hfk.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(31-33)CTA>TTA		amelotin precursor							244.0	225.0	231.0					4																	71384525		2203	4300	6503	SO:0001819	synonymous_variant	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71384525C>T	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.31C>T	4.37:g.71384525C>T						AMTN_uc010ihy.1_Silent_p.L11L	p.L11L	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		2	120	+			11					Q0P503|Q0P506	Silent	SNP	ENST00000339336.4	37	c.31C>T	CCDS3542.1																																																																																				0.383	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		6	94	0	0	0	0.001984	0	6	94				
ENAM	10117	broad.mit.edu	37	4	71497577	71497577	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71497577C>A	ENST00000396073.3	+	4	416	c.135C>A	c.(133-135)ccC>ccA	p.P45P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	45					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P45P(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGCACATGCCCCGAATGCCTG	0.418																																							uc011caw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(133-135)CCC>CCA		enamelin precursor							204.0	198.0	200.0					4																	71497577		2203	4296	6499	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71497577C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.135C>A	4.37:g.71497577C>A							p.P45P	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		4	416	+			45					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.135C>A	CCDS3544.2																																																																																				0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		21	146	1	0	5.45024e-15	0.00333	9.04391e-15	21	146				
ADAMTS3	9508	broad.mit.edu	37	4	73149155	73149155	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:73149155T>A	ENST00000286657.4	-	22	3352	c.3316A>T	c.(3316-3318)Atc>Ttc	p.I1106F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1106					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I1106F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGAAGAGATGCTACTCAAA	0.468																																					NSCLC(168;1941 2048 2918 13048 43078)	NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(3316-3318)ATC>TTC		ADAM metallopeptidase with thrombospondin type 1							102.0	96.0	98.0					4																	73149155		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149155T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3316A>T	4.37:g.73149155T>A	ENSP00000286657:p.Ile1106Phe						p.I1106F	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3353	-			1106					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3316A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	0.586	-0.834976	0.02713	.	.	ENSG00000156140	ENST00000286657	T	0.61510	0.1	5.35	-4.09	0.03951	.	0.898163	0.09475	N	0.797113	T	0.33614	0.0869	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31420	-0.9944	10	0.09590	T	0.72	.	0.9812	0.01437	0.2901:0.1283:0.3185:0.2631	.	1106	O15072	ATS3_HUMAN	F	1106	ENSP00000286657:I1106F	ENSP00000286657:I1106F	I	-	1	0	ADAMTS3	73368019	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.232000	0.09055	-0.997000	0.03450	-0.326000	0.08463	ATC		0.468	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	83	0	0	0	0.001984	0	6	83				
ANKRD17	26057	broad.mit.edu	37	4	74007528	74007528	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:74007528C>A	ENST00000358602.4	-	14	2378	c.2262G>T	c.(2260-2262)atG>atT	p.M754I	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.M754I|ANKRD17_ENST00000509867.2_Missense_Mutation_p.M641I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	754					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M754I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGAACAACCATGGGCAGTG	0.428																																							uc003hgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(2260-2262)ATG>ATT		ankyrin repeat domain protein 17 isoform a							91.0	86.0	87.0					4																	74007528		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74007528C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2262G>T	4.37:g.74007528C>A	ENSP00000351416:p.Met754Ile					ANKRD17_uc003hgo.2_Missense_Mutation_p.M641I|ANKRD17_uc003hgq.2_Missense_Mutation_p.M754I|ANKRD17_uc003hgr.2_Missense_Mutation_p.M754I|ANKRD17_uc011cbd.1_Missense_Mutation_p.M319I	p.M754I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		14	2379	-	Breast(15;0.000295)		754					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.2262G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628047	0.96671	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66815	-0.23;-0.12;-0.21	6.05	6.05	0.98169	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	L	0.47190	1.495	0.43126	D	0.994859	B;B;P;B;B	0.45348	0.024;0.039;0.856;0.105;0.126	B;B;P;B;B	0.51615	0.008;0.009;0.675;0.022;0.021	T	0.63739	-0.6569	10	0.20046	T	0.44	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	275;754;754;754;641	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	I	754;754;754;641;754	ENSP00000351416:M754I;ENSP00000332265:M754I;ENSP00000427151:M641I	ENSP00000332265:M754I	M	-	3	0	ANKRD17	74226392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.803000	0.85983	2.878000	0.98634	0.650000	0.86243	ATG		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	44	1	0	8.12818e-05	0.001984	9.2732e-05	7	44				
PPEF2	5470	broad.mit.edu	37	4	76787428	76787428	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:76787428G>A	ENST00000286719.7	-	15	2190	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	612					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.P612S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCAGCTGTGGCCTCAGCATC	0.537																																					NSCLC(105;1359 1603 15961 44567 47947)	NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1834-1836)CCA>TCA		serine/threonine protein phosphatase with							168.0	135.0	146.0					4																	76787428		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787428G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1834C>T	4.37:g.76787428G>A	ENSP00000286719:p.Pro612Ser					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	p.P612S	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2191	-			612					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1834C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	3.283	-0.146575	0.06627	.	.	ENSG00000156194	ENST00000286719	T	0.39406	1.08	4.67	2.94	0.34122	.	0.286434	0.40385	N	0.001112	T	0.45276	0.1334	L	0.29908	0.895	0.29008	N	0.887047	D	0.89917	1.0	D	0.85130	0.997	T	0.38067	-0.9678	10	0.07644	T	0.81	-3.8308	11.6665	0.51376	0.1642:0.0:0.8358:0.0	.	612	O14830	PPE2_HUMAN	S	612	ENSP00000286719:P612S	ENSP00000286719:P612S	P	-	1	0	PPEF2	77006452	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	1.757000	0.38400	0.220000	0.20860	-1.579000	0.00862	CCA		0.537	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		11	86	0	0	0	0.001368	0	11	86				
PPEF2	5470	broad.mit.edu	37	4	76793254	76793254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:76793254G>T	ENST00000286719.7	-	13	1929	c.1573C>A	c.(1573-1575)Ctg>Atg	p.L525M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	525	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.L525M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCTGGCCCCAGTTTGACATAG	0.458																																					NSCLC(105;1359 1603 15961 44567 47947)	NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1573-1575)CTG>ATG		serine/threonine protein phosphatase with							118.0	107.0	110.0					4																	76793254		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76793254G>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1573C>A	4.37:g.76793254G>T	ENSP00000286719:p.Leu525Met					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.L525M	p.L525M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1930	-			525			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1573C>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700778	0.48307	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.07114	3.22	4.47	3.62	0.41486	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.101073	0.41938	U	0.000797	T	0.12561	0.0305	L	0.47716	1.5	0.37393	D	0.912542	P;P	0.51351	0.882;0.944	P;P	0.49953	0.627;0.535	T	0.11421	-1.0588	10	0.39692	T	0.17	5.998	10.8565	0.46802	0.0941:0.0:0.9059:0.0	.	525;525	O14830-2;O14830	.;PPE2_HUMAN	M	525	ENSP00000286719:L525M	ENSP00000286719:L525M	L	-	1	2	PPEF2	77012278	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.033000	0.49743	1.215000	0.43411	0.491000	0.48974	CTG		0.458	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		9	121	1	0	1.58986e-06	0.008291	1.96659e-06	9	121				
SOWAHB	345079	broad.mit.edu	37	4	77817798	77817798	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:77817798C>G	ENST00000334306.2	-	1	1204	c.1205G>C	c.(1204-1206)aGt>aCt	p.S402T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	402								p.S402T(1)									ACTGCCATCACTCTCCTGGTC	0.582																																							uc003hki.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)AGT>ACT		ankyrin repeat domain 56							68.0	74.0	72.0					4																	77817798		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817798C>G		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1205G>C	4.37:g.77817798C>G	ENSP00000334879:p.Ser402Thr						p.S402T	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1205	-			402					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1205G>C	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528899	0.44969	.	.	ENSG00000186212	ENST00000334306	T	0.08896	3.04	4.66	4.66	0.58398	.	0.000000	0.45126	U	0.000390	T	0.08223	0.0205	L	0.32530	0.975	0.28720	N	0.903056	P	0.43094	0.799	B	0.43301	0.415	T	0.16482	-1.0401	10	0.19147	T	0.46	-12.6206	12.3816	0.55309	0.0:0.8299:0.1701:0.0	.	402	A6NEL2	ANR56_HUMAN	T	402	ENSP00000334879:S402T	ENSP00000334879:S402T	S	-	2	0	ANKRD56	78036822	0.996000	0.38824	0.962000	0.40283	0.194000	0.23727	1.328000	0.33758	2.409000	0.81822	0.655000	0.94253	AGT		0.582	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		21	172	0	0	0	0.010504	0	21	172				
ANXA3	306	broad.mit.edu	37	4	79522677	79522677	+	Missense_Mutation	SNP	G	G	T	rs267600271		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:79522677G>T	ENST00000264908.6	+	11	1123	c.744G>T	c.(742-744)agG>agT	p.R248S	ANXA3_ENST00000512884.1_Missense_Mutation_p.R209S|ANXA3_ENST00000503570.2_Missense_Mutation_p.R209S	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	248					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.R248S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGTGTGAGGAACACGCCGG	0.383																																					GBM(2;126 157 27790 28920 42492)	GBM(2;126 157 27790 28920 42492)	uc003hld.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)AGG>AGT		annexin A3							142.0	131.0	135.0					4																	79522677		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522677G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.744G>T	4.37:g.79522677G>T	ENSP00000264908:p.Arg248Ser					ANXA3_uc003hle.2_Missense_Mutation_p.R209S|ANXA3_uc010ijk.2_Missense_Mutation_p.R209S	p.R248S	NM_005139	NP_005130	P12429	ANXA3_HUMAN			11	1054	+			248					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.744G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418244	0.25552	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.11712	2.75;2.75;2.75	5.21	3.44	0.39384	.	0.098360	0.64402	D	0.000002	T	0.08133	0.0203	L	0.37850	1.14	0.48135	D	0.999591	B	0.14805	0.011	B	0.04013	0.001	T	0.18053	-1.0349	10	0.66056	D	0.02	.	4.5171	0.11940	0.2684:0.1607:0.5709:0.0	.	248	P12429	ANXA3_HUMAN	S	248;209;209	ENSP00000264908:R248S;ENSP00000423068:R209S;ENSP00000421015:R209S	ENSP00000264908:R248S	R	+	3	2	ANXA3	79741701	1.000000	0.71417	0.991000	0.47740	0.425000	0.31504	0.724000	0.25954	0.723000	0.32274	0.585000	0.79938	AGG		0.383	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		10	100	1	0	1.58986e-06	0.008291	1.96659e-06	10	100				
NAA11	84779	broad.mit.edu	37	4	80246689	80246689	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:80246689T>A	ENST00000286794.4	-	1	515	c.343A>T	c.(343-345)Aac>Tac	p.N115Y	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	115	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.N115Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GCTGGCCGGTTACTCTTCCTG	0.512																																							uc003hlt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(343-345)AAC>TAC		alpha-N-acetyltransferase 1B							60.0	64.0	63.0					4																	80246689		2086	4243	6329	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246689T>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.343A>T	4.37:g.80246689T>A	ENSP00000286794:p.Asn115Tyr						p.N115Y	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	483	-			115			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.343A>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131498	0.56828	.	.	ENSG00000156269	ENST00000286794	T	0.73152	-0.72	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	D	0.91637	0.7357	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94760	0.7935	9	.	.	.	-28.1819	13.3112	0.60380	0.0:0.0:0.0:1.0	.	115	Q9BSU3	NAA11_HUMAN	Y	115	ENSP00000286794:N115Y	.	N	-	1	0	NAA11	80465713	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	2.966000	0.49208	2.308000	0.77769	0.533000	0.62120	AAC		0.512	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			8	60	0	0	0	0.00308	0	8	60				
PRKG2	5593	broad.mit.edu	37	4	82090872	82090872	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:82090872T>A	ENST00000395578.1	-	5	909	c.793A>T	c.(793-795)Ata>Tta	p.I265L	RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000264399.1_Missense_Mutation_p.I265L|PRKG2_ENST00000418486.2_Missense_Mutation_p.I265L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	265					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.I265L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCCTCATTATATTCTGGAAT	0.373																																							uc003hmh.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(793-795)ATA>TTA		protein kinase, cGMP-dependent, type II							173.0	159.0	164.0					4																	82090872		2203	4299	6502	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82090872T>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.793A>T	4.37:g.82090872T>A	ENSP00000378945:p.Ile265Leu					PRKG2_uc011cch.1_Missense_Mutation_p.I265L	p.I265L	NM_006259	NP_006250	Q13237	KGP2_HUMAN			4	807	-			265			cGMP 1.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.793A>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	32	5.181251	0.94846	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.91180	-2.8;-2.8;-2.8	6.07	6.07	0.98685	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.043815	0.85682	N	0.000000	D	0.92721	0.7686	L	0.38733	1.17	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.79108	0.992;0.951	D	0.92544	0.6044	10	0.44086	T	0.13	-26.0438	16.3021	0.82825	0.0:0.0:0.0:1.0	.	265;265	E7EPE6;Q13237	.;KGP2_HUMAN	L	265	ENSP00000378945:I265L;ENSP00000264399:I265L;ENSP00000389038:I265L	ENSP00000264399:I265L	I	-	1	0	PRKG2	82309896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.451000	0.80668	2.326000	0.78906	0.533000	0.62120	ATA		0.373	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		12	107	0	0	0	0.00245	0	12	107				
PTPN13	5783	broad.mit.edu	37	4	87679886	87679886	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:87679886C>T	ENST00000411767.2	+	22	3432	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	PTPN13_ENST00000427191.2_Silent_p.I1104I|PTPN13_ENST00000511467.1_Silent_p.I1123I|PTPN13_ENST00000316707.6_Silent_p.I932I|PTPN13_ENST00000436978.1_Silent_p.I1123I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1123	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.I1123I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCATATTTATCAGTTCAGTTG	0.388																																							uc003hpz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(3367-3369)ATC>ATT		protein tyrosine phosphatase, non-receptor type							129.0	130.0	129.0					4																	87679886		1857	4100	5957	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87679886C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3369C>T	4.37:g.87679886C>T						PTPN13_uc003hpy.2_Silent_p.I1123I|PTPN13_uc003hqa.2_Silent_p.I1104I|PTPN13_uc003hqb.2_Silent_p.I932I	p.I1123I	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	22	3849	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1123			PDZ 1.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.3369C>T	CCDS47094.1																																																																																				0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			8	104	0	0	0	0.004482	0	8	104				
MEPE	56955	broad.mit.edu	37	4	88767462	88767462	+	Missense_Mutation	SNP	G	G	T	rs138152179		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:88767462G>T	ENST00000424957.3	+	4	1515	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L	MEPE_ENST00000497649.2_Missense_Mutation_p.R457L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.R368L|MEPE_ENST00000560249.1_Missense_Mutation_p.R368L|MEPE_ENST00000361056.3_Missense_Mutation_p.R481L|MEPE_ENST00000395102.4_Missense_Mutation_p.R512L	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	481					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R481Q(1)|p.R481L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AATTCTACACGGAATAAGGGT	0.423																																							uc003hqy.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1441-1443)CGG>CTG		matrix, extracellular phosphoglycoprotein with							84.0	84.0	84.0					4																	88767462		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767462G>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1442G>T	4.37:g.88767462G>T	ENSP00000416984:p.Arg481Leu					MEPE_uc010ikn.2_Missense_Mutation_p.R368L	p.R481L	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	1481	+		Hepatocellular(203;0.114)	481					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1442G>T	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414914	0.25465	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49432	0.78;0.79;0.78;0.79;0.78	4.68	-0.129	0.13502	.	2.142430	0.02126	N	0.055974	T	0.42223	0.1193	L	0.61218	1.895	0.09310	N	1	P	0.37352	0.591	B	0.31946	0.138	T	0.26573	-1.0099	10	0.42905	T	0.14	5.0519	4.6795	0.12727	0.3356:0.1521:0.5123:0.0	.	481	Q9NQ76	MEPE_HUMAN	L	481;512;457;368;481	ENSP00000416984:R481L;ENSP00000378534:R512L;ENSP00000422747:R457L;ENSP00000443491:R368L;ENSP00000354341:R481L	ENSP00000354341:R481L	R	+	2	0	MEPE	88986486	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.531000	0.23052	0.021000	0.15133	0.563000	0.77884	CGG		0.423	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			20	109	1	0	1.50039e-11	0.001882	2.26613e-11	20	109				
FAM13A	10144	broad.mit.edu	37	4	89679943	89679943	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:89679943G>C	ENST00000264344.5	-	14	1895	c.1688C>G	c.(1687-1689)tCg>tGg	p.S563W	FAM13A_ENST00000503556.1_Missense_Mutation_p.S223W|FAM13A_ENST00000513837.1_Missense_Mutation_p.S209W|FAM13A_ENST00000511976.1_Missense_Mutation_p.S149W|FAM13A_ENST00000395002.2_Missense_Mutation_p.S237W|FAM13A_ENST00000508369.1_Missense_Mutation_p.S237W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	563					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.S563W(1)|p.S237W(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTCAGGTCCGACTGGGGCAC	0.453																																							uc003hse.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1687-1689)TCG>TGG		family with sequence similarity 13, member A1							119.0	112.0	114.0					4																	89679943		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89679943G>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1688C>G	4.37:g.89679943G>C	ENSP00000264344:p.Ser563Trp					FAM13A_uc003hsa.1_Missense_Mutation_p.S34W|FAM13A_uc003hsb.1_Missense_Mutation_p.S237W|FAM13A_uc003hsd.1_Missense_Mutation_p.S237W|FAM13A_uc003hsc.1_Missense_Mutation_p.S223W|FAM13A_uc011cdq.1_Missense_Mutation_p.S209W|FAM13A_uc003hsf.1_Missense_Mutation_p.S149W|FAM13A_uc003hsg.1_Missense_Mutation_p.S34W|FAM13A_uc010ikr.1_Missense_Mutation_p.S59W	p.S563W	NM_014883	NP_055698	O94988	FA13A_HUMAN			14	1896	-			563					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1688C>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195870	0.38806	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.46451	0.87;2.15;1.45;1.46;1.46;1.45	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.19167	0.0460	N	0.08118	0	0.80722	D	1	B;B;P;P;B;B;B	0.42010	0.422;0.422;0.768;0.578;0.168;0.422;0.204	B;B;B;B;B;B;B	0.25884	0.024;0.04;0.064;0.025;0.013;0.04;0.033	T	0.07849	-1.0751	10	0.72032	D	0.01	.	11.456	0.50183	0.9302:0.0:0.0698:0.0	.	209;242;149;563;237;223;237	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	W	237;563;223;149;237;209	ENSP00000378450:S237W;ENSP00000264344:S563W;ENSP00000427189:S223W;ENSP00000421914:S149W;ENSP00000421562:S237W;ENSP00000423252:S209W	ENSP00000264344:S563W	S	-	2	0	FAM13A	89898966	1.000000	0.71417	0.809000	0.32408	0.335000	0.28730	5.794000	0.69067	1.056000	0.40484	-0.269000	0.10298	TCG		0.453	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			11	69	0	0	0	0.000978	0	11	69				
SNCA	6622	broad.mit.edu	37	4	90743477	90743477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90743477C>A	ENST00000394986.1	-	4	647	c.226G>T	c.(226-228)Gca>Tca	p.A76S	SNCA_ENST00000420646.2_Missense_Mutation_p.A76S|SNCA_ENST00000506244.1_Missense_Mutation_p.A76S|SNCA_ENST00000502987.1_Missense_Mutation_p.A76S|SNCA_ENST00000394991.3_Missense_Mutation_p.A76S|SNCA_ENST00000345009.4_Missense_Mutation_p.A76S|SNCA_ENST00000394989.2_Missense_Mutation_p.A62S|SNCA_ENST00000505199.1_Missense_Mutation_p.A62S|SNCA_ENST00000336904.3_Missense_Mutation_p.A76S|SNCA_ENST00000508895.1_Missense_Mutation_p.A76S			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	76					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.A76S(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TGGGCTACTGCTGTCACACCC	0.507																																							uc003hsq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GCA>TCA		alpha-synuclein isoform NACP140	Melatonin(DB01065)						217.0	153.0	175.0					4																	90743477		2203	4300	6503	SO:0001583	missense	6622				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	g.chr4:90743477C>A	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.226G>T	4.37:g.90743477C>A	ENSP00000378437:p.Ala76Ser					SNCA_uc010ikt.2_Missense_Mutation_p.A62S|SNCA_uc003hso.2_Missense_Mutation_p.A76S|SNCA_uc003hsp.2_Missense_Mutation_p.A76S|SNCA_uc003hsr.2_Missense_Mutation_p.A76S	p.A76S	NM_001146054	NP_001139526	P37840	SYUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	4	485	-		Hepatocellular(203;0.114)	76	Missing: Impairs polymerization into amyloid fibrils.|Missing: Impairs polymerization into amyloid fibrils.|Missing: Does not affect polymerization into amyloid fibrils.				A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	c.226G>T	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242614	0.58995	.	.	ENSG00000145335	ENST00000394989;ENST00000420646;ENST00000345009;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199;ENST00000502987	D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.21	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	L	0.43152	1.355	0.42978	D	0.994456	P;P;P	0.50156	0.819;0.932;0.612	P;D;B	0.72982	0.894;0.979;0.222	D	0.86840	0.2016	10	0.51188	T	0.08	-21.4277	12.8537	0.57873	0.0:0.9197:0.0:0.0803	.	62;76;76	P37840-3;P37840;P37840-2	.;SYUA_HUMAN;.	S	62;76;76;76;76;76;76;76;62;76	ENSP00000378440:A62S;ENSP00000396241:A76S;ENSP00000343683:A76S;ENSP00000378437:A76S;ENSP00000378442:A76S;ENSP00000338345:A76S;ENSP00000426955:A76S;ENSP00000422238:A76S;ENSP00000421485:A62S;ENSP00000426034:A76S	ENSP00000338345:A76S	A	-	1	0	SNCA	90962500	0.989000	0.36119	0.998000	0.56505	0.994000	0.84299	2.769000	0.47654	1.355000	0.45865	0.563000	0.77884	GCA		0.507	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			8	60	1	0	3.86212e-05	0.008291	4.46834e-05	8	60				
MMRN1	22915	broad.mit.edu	37	4	90844382	90844382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90844382G>T	ENST00000394980.1	+	5	1233	c.914G>T	c.(913-915)gGa>gTa	p.G305V	MMRN1_ENST00000394981.1_Missense_Mutation_p.G271V|MMRN1_ENST00000264790.2_Missense_Mutation_p.G305V|MMRN1_ENST00000508372.1_Missense_Mutation_p.G47V			Q13201	MMRN1_HUMAN	multimerin 1	305					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.G305V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTTGGCAGAGGAGTAGCTGAG	0.448																																							uc003hst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(913-915)GGA>GTA		multimerin 1							181.0	179.0	180.0					4																	90844382		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844382G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.914G>T	4.37:g.90844382G>T	ENSP00000378431:p.Gly305Val					MMRN1_uc010iku.2_Missense_Mutation_p.G271V|MMRN1_uc011cds.1_Missense_Mutation_p.G47V	p.G305V	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	4	985	+		Hepatocellular(203;0.114)	305					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.914G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716612	0.30413	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.71222	0.13;0.13;-0.55;-0.25	5.36	-0.731	0.11151	.	1.238090	0.05462	N	0.551349	T	0.55194	0.1905	L	0.34521	1.04	0.18873	N	0.999982	P;P	0.41524	0.753;0.638	B;B	0.37304	0.246;0.178	T	0.45279	-0.9272	10	0.30854	T	0.27	.	5.3406	0.15981	0.3658:0.2531:0.3811:0.0	.	271;305	Q13201-2;Q13201	.;MMRN1_HUMAN	V	305;305;271;47	ENSP00000378431:G305V;ENSP00000264790:G305V;ENSP00000378432:G271V;ENSP00000426461:G47V	ENSP00000264790:G305V	G	+	2	0	MMRN1	91063405	0.000000	0.05858	0.000000	0.03702	0.680000	0.39746	0.070000	0.14573	-0.085000	0.12573	0.591000	0.81541	GGA		0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		26	184	1	0	4.3181e-19	0.002836	7.70446e-19	26	184				
MMRN1	22915	broad.mit.edu	37	4	90856977	90856977	+	Missense_Mutation	SNP	C	C	A	rs377031358		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90856977C>A	ENST00000394980.1	+	7	2465	c.2146C>A	c.(2146-2148)Cgt>Agt	p.R716S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R716S|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458S			Q13201	MMRN1_HUMAN	multimerin 1	716					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.R716S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTAGAAAGACGTATCAATGA	0.313																																							uc003hst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2146-2148)CGT>AGT		multimerin 1							75.0	77.0	76.0					4																	90856977		2201	4295	6496	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856977C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2146C>A	4.37:g.90856977C>A	ENSP00000378431:p.Arg716Ser					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.R458S	p.R716S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2217	+		Hepatocellular(203;0.114)	716			Potential.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2146C>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817708	0.32145	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66995	0.07;0.07;-0.24	5.2	4.35	0.52113	.	0.155264	0.41294	D	0.000917	T	0.73984	0.3657	M	0.66939	2.045	0.80722	D	1	D	0.58970	0.984	P	0.54372	0.75	T	0.76402	-0.2972	10	0.51188	T	0.08	.	13.7184	0.62712	0.2792:0.7208:0.0:0.0	.	716	Q13201	MMRN1_HUMAN	S	716;716;458	ENSP00000378431:R716S;ENSP00000264790:R716S;ENSP00000426461:R458S	ENSP00000264790:R716S	R	+	1	0	MMRN1	91076000	0.112000	0.22096	0.808000	0.32385	0.872000	0.50106	0.840000	0.27600	1.478000	0.48253	0.655000	0.94253	CGT		0.313	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		4	44	1	0	0.00909568	0.009096	0.00951132	4	44				
MMRN1	22915	broad.mit.edu	37	4	90857618	90857618	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90857618A>G	ENST00000394980.1	+	7	3106	c.2787A>G	c.(2785-2787)acA>acG	p.T929T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.T929T|MMRN1_ENST00000508372.1_Silent_p.T671T			Q13201	MMRN1_HUMAN	multimerin 1	929					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.T929T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGTTTTAACAATGTGTCACA	0.368																																							uc003hst.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2785-2787)ACA>ACG		multimerin 1							70.0	71.0	70.0					4																	90857618		2203	4299	6502	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857618A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2787A>G	4.37:g.90857618A>G						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.T671T	p.T929T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2858	+		Hepatocellular(203;0.114)	929					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2787A>G	CCDS3635.1																																																																																				0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	59	0	0	0	0.004482	0	8	59				
MMRN1	22915	broad.mit.edu	37	4	90874276	90874276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90874276C>A	ENST00000394980.1	+	9	3713	c.3394C>A	c.(3394-3396)Cca>Aca	p.P1132T	MMRN1_ENST00000394981.1_Missense_Mutation_p.P435T|MMRN1_ENST00000264790.2_Missense_Mutation_p.P1132T|MMRN1_ENST00000508372.1_Missense_Mutation_p.P874T			Q13201	MMRN1_HUMAN	multimerin 1	1132	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.P1132T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTCATATACCCCAAGAACTGG	0.368																																							uc003hst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3394-3396)CCA>ACA		multimerin 1							102.0	103.0	103.0					4																	90874276		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874276C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3394C>A	4.37:g.90874276C>A	ENSP00000378431:p.Pro1132Thr					MMRN1_uc010iku.2_Missense_Mutation_p.P435T|MMRN1_uc011cds.1_Missense_Mutation_p.P874T	p.P1132T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3465	+		Hepatocellular(203;0.114)	1132			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3394C>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931660	0.52866	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.11	3.24	0.37175	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.195793	0.36101	N	0.002783	T	0.73079	0.3541	L	0.33189	0.99	0.37732	D	0.92529	D;P	0.56287	0.975;0.946	P;P	0.58454	0.839;0.8	T	0.75611	-0.3258	10	0.52906	T	0.07	.	8.6523	0.34042	0.1504:0.7707:0.0:0.0789	.	435;1132	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1132;1132;435;874	ENSP00000378431:P1132T;ENSP00000264790:P1132T;ENSP00000378432:P435T;ENSP00000426461:P874T	ENSP00000264790:P1132T	P	+	1	0	MMRN1	91093299	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.430000	0.44766	1.475000	0.48197	0.484000	0.47621	CCA		0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	73	1	0	0.000157383	0.00308	0.000177598	8	73				
SMARCAD1	56916	broad.mit.edu	37	4	95162122	95162122	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:95162122G>C	ENST00000354268.4	+	6	743	c.670G>C	c.(670-672)Gat>Cat	p.D224H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D224H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	224					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D224H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGAATTTAATGATGATCAATC	0.358																																							uc003htc.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(670-672)GAT>CAT		SWI/SNF-related, matrix-associated							62.0	64.0	63.0					4																	95162122		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95162122G>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.670G>C	4.37:g.95162122G>C	ENSP00000346217:p.Asp224His					SMARCAD1_uc003htb.3_Missense_Mutation_p.D224H|SMARCAD1_uc003htd.3_Missense_Mutation_p.D224H|SMARCAD1_uc010ila.2_Missense_Mutation_p.D87H	p.D224H	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	6	925	+			224					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.670G>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548269	0.65311	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.06768	3.26;3.26;3.26	5.11	4.25	0.50352	.	0.136545	0.33309	N	0.005045	T	0.12305	0.0299	L	0.47716	1.5	0.80722	D	1	P;P	0.44429	0.745;0.835	B;P	0.48400	0.372;0.576	T	0.00847	-1.1542	10	0.45353	T	0.12	-15.9044	10.0567	0.42250	0.099:0.0:0.901:0.0	.	224;224	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	224	ENSP00000351947:D224H;ENSP00000415576:D224H;ENSP00000346217:D224H	ENSP00000346217:D224H	D	+	1	0	SMARCAD1	95381145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.015000	0.49599	2.530000	0.85305	0.585000	0.79938	GAT		0.358	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		3	26	0	0	0	0.004672	0	3	26				
BMPR1B	658	broad.mit.edu	37	4	96051084	96051084	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:96051084G>T	ENST00000515059.1	+	9	940	c.657G>T	c.(655-657)tgG>tgT	p.W219C	BMPR1B_ENST00000440890.2_Missense_Mutation_p.W249C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.W219C|BMPR1B_ENST00000264568.4_Missense_Mutation_p.W219C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.W219C(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GGGAAGTTTGGATGGGAAAGT	0.453																																							uc003htm.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(655-657)TGG>TGT		bone morphogenetic protein receptor, type IB							149.0	158.0	155.0					4																	96051084		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96051084G>T	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.657G>T	4.37:g.96051084G>T	ENSP00000426617:p.Trp219Cys					BMPR1B_uc010ilb.2_Missense_Mutation_p.W219C|BMPR1B_uc003htn.3_Missense_Mutation_p.W219C	p.W219C	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	9	931	+		Hepatocellular(203;0.114)	219			Cytoplasmic (Potential).|Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.657G>T	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760968	0.89932	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96357	0.9263	10	0.87932	D	0	.	20.3357	0.98737	0.0:0.0:1.0:0.0	.	219	O00238	BMR1B_HUMAN	C	219;219;219;249;219;219	ENSP00000426617:W219C;ENSP00000425444:W219C;ENSP00000421671:W219C;ENSP00000401907:W249C;ENSP00000264568:W219C;ENSP00000378389:W219C	ENSP00000264568:W219C	W	+	3	0	BMPR1B	96270107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.806000	0.99153	2.808000	0.96608	0.552000	0.68991	TGG		0.453	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		7	62	1	0	3.09899e-07	0.004482	3.96541e-07	7	62				
C4orf17	84103	broad.mit.edu	37	4	100458876	100458876	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:100458876T>A	ENST00000326581.4	+	6	959	c.597T>A	c.(595-597)gtT>gtA	p.V199V	C4orf17_ENST00000514652.1_Silent_p.V199V	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	199								p.V199V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGGCAGAAGTTTTACAGTGGC	0.363																																							uc003huw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)GTT>GTA		hypothetical protein LOC84103							126.0	120.0	122.0					4																	100458876		2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100458876T>A	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.597T>A	4.37:g.100458876T>A						C4orf17_uc003hux.2_RNA	p.V199V	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	6	920	+			199					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.597T>A	CCDS3649.1																																																																																				0.363	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	86	0	0	0	0.001368	0	8	86				
CENPE	1062	broad.mit.edu	37	4	104061453	104061453	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:104061453T>G	ENST00000265148.3	-	37	5962	c.5873A>C	c.(5872-5874)cAa>cCa	p.Q1958P	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1933P	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1958					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.Q1958P(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAAATCCTTTTGAATGTCTGA	0.284																																							uc003hxb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(5872-5874)CAA>CCA		centromere protein E							82.0	90.0	87.0					4																	104061453		2203	4293	6496	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104061453T>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5873A>C	4.37:g.104061453T>G	ENSP00000265148:p.Gln1958Pro					CENPE_uc003hxc.1_Missense_Mutation_p.Q1933P|CENPE_uc003hxd.1_RNA	p.Q1958P	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	37	5963	-			1958			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.5873A>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643354	0.29246	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72051	-0.62;-0.62	5.42	2.93	0.34026	.	.	.	.	.	T	0.74291	0.3697	M	0.64404	1.975	0.09310	N	1	D;B	0.58268	0.982;0.007	P;B	0.54924	0.764;0.003	T	0.62891	-0.6758	9	0.62326	D	0.03	.	6.8076	0.23786	0.1501:0.0:0.1571:0.6928	.	1933;1958	Q02224-3;Q02224	.;CENPE_HUMAN	P	1958;1958;1933	ENSP00000265148:Q1958P;ENSP00000369365:Q1933P	ENSP00000265148:Q1958P	Q	-	2	0	CENPE	104280902	0.909000	0.30893	0.011000	0.14972	0.495000	0.33615	2.440000	0.44855	0.339000	0.23719	0.523000	0.50628	CAA		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	43	0	0	0	0.00308	0	7	43				
EEF1A1P9	441032	broad.mit.edu	37	4	106406500	106406500	+	IGR	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:106406500C>G								PPA2 (11262 upstream) : AC004066.3 (54846 downstream)																							GAAAGTCACCCGTAAGGATGG	0.537																																							uc003hxt.1		NA																	0					0						c.(508-510)CGT>GGT		SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment;																																				SO:0001628	intergenic_variant	441032							g.chr4:106406500C>G																													4.37:g.106406500C>G							p.R170G	NR_003586						1	638	+									Missense_Mutation	SNP		37	c.508C>G																																																																																				0	0.537									8	43	0	0	0	0.00308	0	8	43				
LEF1	51176	broad.mit.edu	37	4	108985506	108985506	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:108985506T>A	ENST00000265165.1	-	10	1805	c.1151A>T	c.(1150-1152)cAg>cTg	p.Q384L	LEF1_ENST00000438313.2_Missense_Mutation_p.Q356L|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Missense_Mutation_p.Q288L|LEF1_ENST00000379951.2_Missense_Mutation_p.Q356L	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	384					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q384L(1)|p.Q288L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGCAGATTCCTGTAGTTTCTC	0.428																																							uc003hyt.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1150-1152)CAG>CTG		lymphoid enhancer-binding factor 1 isoform 1							352.0	307.0	322.0					4																	108985506		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108985506T>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1151A>T	4.37:g.108985506T>A	ENSP00000265165:p.Gln384Leu					LEF1_uc011cfj.1_Missense_Mutation_p.Q241L|LEF1_uc011cfk.1_Missense_Mutation_p.Q288L|LEF1_uc003hyu.1_Missense_Mutation_p.Q356L|LEF1_uc003hyv.1_Missense_Mutation_p.Q356L|LEF1_uc010imb.1_RNA|LEF1_uc003hys.1_RNA|LEF1_uc010ima.1_Missense_Mutation_p.Q72L	p.Q384L	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	10	1806	-			384					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.1151A>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203299	0.79127	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99259	-5.6;-5.58;-5.61;-5.64	4.47	4.47	0.54385	.	0.129817	0.53938	D	0.000054	D	0.98779	0.9589	L	0.35854	1.095	0.80722	D	1	P;P;D;P;D;D	0.76494	0.659;0.851;0.999;0.908;0.978;0.971	P;P;D;P;P;P	0.70227	0.775;0.775;0.968;0.888;0.643;0.525	D	0.99647	1.0990	10	0.66056	D	0.02	-22.732	13.2494	0.60043	0.0:0.0:0.0:1.0	.	288;241;288;356;356;384	E9PDK3;B4DZY5;B7Z8E2;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;.;LEF1_HUMAN	L	384;356;356;288	ENSP00000265165:Q384L;ENSP00000369284:Q356L;ENSP00000406176:Q356L;ENSP00000422840:Q288L	ENSP00000265165:Q384L	Q	-	2	0	LEF1	109204955	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	4.679000	0.61649	1.774000	0.52232	0.533000	0.62120	CAG		0.428	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			9	83	0	0	0	0.004482	0	9	83				
OSTC	58505	broad.mit.edu	37	4	109571951	109571951	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:109571951G>T	ENST00000361564.4	+	1	211		c.e1+1		RNU6-431P_ENST00000383874.1_RNA|OSTC_ENST00000512478.2_Splice_Site|OSTC_ENST00000505745.1_Splice_Site	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)						protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)		p.?(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ATCACCGGAGGTAACTCGGGC	0.632																																							uc003hzb.1		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e1+1		DC2 protein							39.0	38.0	38.0					4																	109571951		2203	4300	6503	SO:0001630	splice_region_variant	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109571951G>T	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.139+1G>T	4.37:g.109571951G>T							p.G47_splice	NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN			1	210	+								A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Splice_Site	SNP	ENST00000361564.4	37	c.139_splice	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568537	0.86439	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2279	0.89924	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSTC	109791400	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.036000	0.93758	2.369000	0.80426	0.563000	0.77884	.		0.632	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227	Intron	8	70	1	0	0.00307968	0.00308	0.00327966	8	70				
ALPK1	80216	broad.mit.edu	37	4	113356453	113356453	+	Missense_Mutation	SNP	G	G	T	rs142605222		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:113356453G>T	ENST00000458497.1	+	12	3463	c.3184G>T	c.(3184-3186)Ggg>Tgg	p.G1062W	ALPK1_ENST00000177648.9_Missense_Mutation_p.G1062W|ALPK1_ENST00000504176.2_Missense_Mutation_p.G984W	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1062	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1062W(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAAATTCTGGGGAGGTATTA	0.363																																							uc003iap.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3184-3186)GGG>TGG		alpha-kinase 1							106.0	124.0	118.0					4																	113356453		2201	4300	6501	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113356453G>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3184G>T	4.37:g.113356453G>T	ENSP00000398048:p.Gly1062Trp					ALPK1_uc003ian.3_Missense_Mutation_p.G1062W|ALPK1_uc011cfx.1_Missense_Mutation_p.G984W|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.G890W	p.G1062W	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	12	3463	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1062			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3184G>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854405	0.71719	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14022	2.54;2.54;2.54	5.79	5.79	0.91817	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.115083	0.64402	D	0.000013	T	0.36663	0.0975	L	0.54323	1.7	0.40258	D	0.978147	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.03139	-1.1068	10	0.87932	D	0	-25.9505	20.0368	0.97565	0.0:0.0:1.0:0.0	.	984;984;1062	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	W	1062;1062;984	ENSP00000398048:G1062W;ENSP00000177648:G1062W;ENSP00000426044:G984W	ENSP00000177648:G1062W	G	+	1	0	ALPK1	113575902	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.443000	0.73447	2.735000	0.93741	0.563000	0.77884	GGG		0.363	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		12	175	1	0	0.000151284	0.001855	0.0001717	12	175				
ANK2	287	broad.mit.edu	37	4	114278434	114278434	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114278434C>T	ENST00000357077.4	+	38	8713	c.8660C>T	c.(8659-8661)cCa>cTa	p.P2887L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2854L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2887					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P2887L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAACTTACCAAAGGACTGC	0.378																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8659-8661)CCA>CTA		ankyrin 2 isoform 1							120.0	120.0	120.0					4																	114278434		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278434C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8660C>T	4.37:g.114278434C>T	ENSP00000349588:p.Pro2887Leu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P189L|ANK2_uc011cgb.1_Missense_Mutation_p.P2902L	p.P2887L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8760	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2854					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8660C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860502	0.32884	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67523	-0.26;-0.27	5.43	4.57	0.56435	.	0.743110	0.11316	N	0.576572	T	0.58963	0.2159	L	0.56769	1.78	0.19300	N	0.999979	B;B	0.32245	0.361;0.023	B;B	0.23852	0.036;0.049	T	0.49184	-0.8966	9	.	.	.	.	8.9696	0.35899	0.214:0.6514:0.1347:0.0	.	2854;2887	Q01484;Q01484-4	ANK2_HUMAN;.	L	2887;2854	ENSP00000349588:P2887L;ENSP00000264366:P2854L	.	P	+	2	0	ANK2	114497883	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	0.881000	0.28173	1.232000	0.43678	0.655000	0.94253	CCA		0.378	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	229	0	0	0	0.004656	0	28	229				
ANK2	287	broad.mit.edu	37	4	114279550	114279551	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114279550_114279551CC>AA	ENST00000357077.4	+	38	9829_9830	c.9776_9777CC>AA	c.(9775-9777)tCC>tAA	p.S3259*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S3226*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3259					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S3259*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAGATTTTTCCACACTCACCA	0.48																																							uc003ibe.3		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(9775-9777)TCC>TAA		ankyrin 2 isoform 1																																				SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279550_114279551CC>AA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	Exception_encountered	4.37:g.114279550_114279551delinsAA	ENSP00000349588:p.Ser3259*					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Nonsense_Mutation_p.S561*|ANK2_uc011cgb.1_Nonsense_Mutation_p.S3274*	p.S3259*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9876_9877	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3226					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	DNP	ENST00000357077.4	37	c.9776_9777CC>AA	CCDS3702.1																																																																																				0.480	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		20	125	0	0	0	0.004672	0	20	125				
FAT4	79633	broad.mit.edu	37	4	126240586	126240586	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:126240586A>T	ENST00000394329.3	+	1	3033	c.3020A>T	c.(3019-3021)gAg>gTg	p.E1007V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1007	Cadherin 10. {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.E1007V(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						ACCCTTTCTGAGTCAGAACCT	0.393																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3019-3021)GAG>GTG		FAT tumor suppressor homolog 4 precursor							113.0	106.0	108.0					4																	126240586		1874	4106	5980	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240586A>T	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.3020A>T	4.37:g.126240586A>T	ENSP00000377862:p.Glu1007Val						p.E1007V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3020	+			1007			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3020A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061628	0.55432	.	.	ENSG00000196159	ENST00000394329	T	0.76448	-1.02	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	0.000000	0.34676	U	0.003761	D	0.92140	0.7508	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94784	0.7956	10	0.87932	D	0	.	14.9061	0.70721	1.0:0.0:0.0:0.0	.	1007	Q6V0I7	FAT4_HUMAN	V	1007	ENSP00000377862:E1007V	ENSP00000377862:E1007V	E	+	2	0	FAT4	126460036	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.949000	0.93012	2.100000	0.63781	0.533000	0.62120	GAG		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	90	0	0	0	0.004007	0	17	90				
FAT4	79633	broad.mit.edu	37	4	126411167	126411167	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:126411167G>T	ENST00000394329.3	+	17	13203	c.13190G>T	c.(13189-13191)gGc>gTc	p.G4397V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2638V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4397	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						GTGAAGATTGGCTGCCGTGGC	0.527																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13189-13191)GGC>GTC		FAT tumor suppressor homolog 4 precursor							185.0	192.0	190.0					4																	126411167		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411167G>T	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.13190G>T	4.37:g.126411167G>T	ENSP00000377862:p.Gly4397Val					FAT4_uc011cgp.1_Missense_Mutation_p.G2638V|FAT4_uc003ifi.1_Missense_Mutation_p.G1874V	p.G4397V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13190	+			4397			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13190G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071829	0.76301	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.82081	-1.57;-1.56	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.35067	U	0.003472	D	0.89777	0.6813	L	0.59436	1.845	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	D	0.90702	0.4621	10	0.87932	D	0	.	17.8878	0.88862	0.0:0.0:1.0:0.0	.	2638;4397;4396	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4397;2638	ENSP00000377862:G4397V;ENSP00000335169:G2638V	ENSP00000335169:G2638V	G	+	2	0	FAT4	126630617	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.627000	0.98412	2.452000	0.82932	0.561000	0.74099	GGC		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		63	354	1	0	2.60599e-31	0.00361	5.02803e-31	63	354				
PCDH10	57575	broad.mit.edu	37	4	134072236	134072236	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:134072236G>T	ENST00000264360.5	+	1	1767	c.941G>T	c.(940-942)gGc>gTc	p.G314V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	314	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.G314V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGGTAAGCGGCGAGTTGGAC	0.622																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(940-942)GGC>GTC		protocadherin 10 isoform 1 precursor							64.0	59.0	61.0					4																	134072236		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072236G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.941G>T	4.37:g.134072236G>T	ENSP00000264360:p.Gly314Val					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G314V	p.G314V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1767	+			314			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.941G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151448	0.57151	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52526	0.66	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.46145	D	0.000312	T	0.67896	0.2942	M	0.71206	2.165	0.80722	D	1	D;D	0.60160	0.987;0.983	P;D	0.75484	0.879;0.986	T	0.73190	-0.4061	10	0.87932	D	0	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	314;314	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	314	ENSP00000264360:G314V	ENSP00000264360:G314V	G	+	2	0	PCDH10	134291686	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.467000	0.73547	2.230000	0.72887	0.407000	0.27541	GGC		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		24	130	1	0	5.35356e-11	0.00278	7.95755e-11	24	130				
PCDH10	57575	broad.mit.edu	37	4	134072870	134072870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:134072870G>T	ENST00000264360.5	+	1	2401	c.1575G>T	c.(1573-1575)ttG>ttT	p.L525F	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L525F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGGCTACTTGTACGCCCTGC	0.592																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1573-1575)TTG>TTT		protocadherin 10 isoform 1 precursor							65.0	69.0	68.0					4																	134072870		2200	4292	6492	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072870G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1575G>T	4.37:g.134072870G>T	ENSP00000264360:p.Leu525Phe					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.L525F	p.L525F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2401	+			525			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1575G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842113	0.51057	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.67698	-0.28	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.34802	N	0.003666	D	0.83686	0.5308	M	0.91038	3.17	0.54753	D	0.999982	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.979	D	0.86479	0.1790	10	0.72032	D	0.01	.	11.1906	0.48683	0.0:0.3108:0.6892:0.0	.	525;525	Q9P2E7;Q96SF0	PCD10_HUMAN;.	F	525	ENSP00000264360:L525F	ENSP00000264360:L525F	L	+	3	2	PCDH10	134292320	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.447000	0.21710	2.329000	0.79093	0.655000	0.94253	TTG		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		17	132	1	0	4.63292e-17	0.008871	7.99088e-17	17	132				
INPP4B	8821	broad.mit.edu	37	4	143003332	143003333	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:143003332_143003333GG>TT	ENST00000513000.1	-	26	2926_2927	c.2493_2494CC>AA	c.(2491-2496)tgCCgc>tgAAgc	p.831_832CR>*S	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.831_832CR>*S|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.831_832CR>*S|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.831_832CR>*S|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.831_832CR>*S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	831					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.C831_R832>*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCAGTTTGCGGCAAATCTGTA	0.396																																							uc003iix.3		NA																	1	Complex - deletion inframe(1)		lung(1)	ovary(1)|lung(1)	2						c.(2491-2496)TGCCGC>TGAAGC		inositol polyphosphate-4-phosphatase, type II,																																				SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003332_143003333GG>TT	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2493_2494delinsTT	4.37:g.143003332_143003333delinsTT	ENSP00000425487:p.C831_R832delins*S					INPP4B_uc003iiw.3_Nonsense_Mutation_p.831_832CR>*S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.646_647CR>*S|INPP4B_uc011cho.1_RNA	p.831_832CR>*S	NM_003866	NP_003857	O15327	INP4B_HUMAN			26	3088_3089	-	all_hematologic(180;0.158)		831_832					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	DNP	ENST00000513000.1	37	c.2493_2494CC>AA	CCDS3757.1																																																																																				0.396	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		6	67	0	0	0	0.004672	0	6	67				
INPP4B	8821	broad.mit.edu	37	4	143235915	143235915	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:143235915C>T	ENST00000513000.1	-	9	806	c.373G>A	c.(373-375)Gtt>Att	p.V125I	INPP4B_ENST00000508116.1_Splice_Site_p.V125I|INPP4B_ENST00000509777.1_Splice_Site_p.V125I|INPP4B_ENST00000308502.4_Splice_Site_p.V125I|INPP4B_ENST00000262992.4_Splice_Site_p.V125I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	125	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.V125I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTGGTTCGAACCTGTGGAGAA	0.448																																							uc003iix.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(373-375)GTT>ATT		inositol polyphosphate-4-phosphatase, type II,							118.0	123.0	121.0					4																	143235915		2203	4300	6503	SO:0001630	splice_region_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143235915C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.373-1G>A	4.37:g.143235915C>T						INPP4B_uc003iiw.3_Missense_Mutation_p.V125I|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA	p.V125I	NM_003866	NP_003857	O15327	INP4B_HUMAN			9	968	-	all_hematologic(180;0.158)		125			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.373G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377770	0.24944	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812	T;T;T;T;T;T	0.30981	1.93;1.93;1.93;1.93;1.93;1.51	6.04	4.26	0.50523	C2 calcium/lipid-binding domain, CaLB (1);	0.570204	0.18524	N	0.138666	T	0.22627	0.0546	L	0.50333	1.59	0.26181	N	0.97973	B	0.06786	0.001	B	0.09377	0.004	T	0.35101	-0.9802	10	0.06891	T	0.86	.	7.626	0.28212	0.0:0.7455:0.1661:0.0884	.	125	O15327	INP4B_HUMAN	I	125	ENSP00000425487:V125I;ENSP00000262992:V125I;ENSP00000308441:V125I;ENSP00000423954:V125I;ENSP00000422793:V125I;ENSP00000427250:V125I	ENSP00000262992:V125I	V	-	1	0	INPP4B	143455365	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.068000	0.41471	0.837000	0.34925	0.561000	0.74099	GTT		0.448	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	Missense_Mutation	15	137	0	0	0	0.00245	0	15	137				
TTC29	83894	broad.mit.edu	37	4	147830185	147830185	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:147830185C>G	ENST00000325106.4	-	5	619	c.393G>C	c.(391-393)gaG>gaC	p.E131D	TTC29_ENST00000513335.1_Missense_Mutation_p.E157D|TTC29_ENST00000398886.4_Missense_Mutation_p.E157D	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	131								p.E131D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TACCTTTCCTCTCAGCGTCCT	0.532																																							uc003ikw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GAG>GAC		tetratricopeptide repeat domain 29							97.0	100.0	99.0					4																	147830185		1984	4163	6147	SO:0001583	missense	83894						binding	g.chr4:147830185C>G	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.393G>C	4.37:g.147830185C>G	ENSP00000316740:p.Glu131Asp					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.E157D|TTC29_uc010ipd.1_Missense_Mutation_p.E131D	p.E131D	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			5	620	-	all_hematologic(180;0.151)		131					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.393G>C	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708235	0.68615	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.03	1.74	0.24563	.	0.119433	0.53938	D	0.000044	T	0.32194	0.0821	M	0.69823	2.125	0.33266	D	0.560431	D;D;D	0.69078	0.984;0.997;0.984	P;D;P	0.64042	0.655;0.921;0.655	T	0.40961	-0.9535	10	0.39692	T	0.17	-23.234	8.4596	0.32921	0.0:0.4188:0.0:0.5812	.	131;157;131	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	D	157;157;131;131;131	ENSP00000423505:E157D;ENSP00000381861:E157D;ENSP00000316740:E131D;ENSP00000425778:E131D	ENSP00000316740:E131D	E	-	3	2	TTC29	148049635	0.933000	0.31639	0.824000	0.32777	0.076000	0.17211	0.012000	0.13287	0.468000	0.27243	0.655000	0.94253	GAG		0.532	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		9	94	0	0	0	0.006214	0	9	94				
DCHS2	54798	broad.mit.edu	37	4	155256115	155256115	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:155256115G>T	ENST00000357232.4	-	8	1120	c.1121C>A	c.(1120-1122)cCt>cAt	p.P374H	DCHS2_ENST00000339452.1_Missense_Mutation_p.P873H|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	374	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.P873H(1)|p.P374H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAACTCAGCAGGTGCCAGAGT	0.463																																							uc003inw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1120-1122)CCT>CAT		dachsous 2 isoform 1							102.0	100.0	101.0					4																	155256115		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256115G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1121C>A	4.37:g.155256115G>T	ENSP00000349768:p.Pro374His					DCHS2_uc003inx.2_Missense_Mutation_p.P873H	p.P374H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1121	-	all_hematologic(180;0.208)	Renal(120;0.0854)	374			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1121C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075451	0.55646	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.63744	0.38;-0.06	6.17	5.33	0.75918	Cadherin (1);	0.169492	0.40728	N	0.001031	T	0.73598	0.3607	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.935;0.96	T	0.74487	-0.3649	10	0.48119	T	0.1	.	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	873;374	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	374;873;873	ENSP00000349768:P374H;ENSP00000345062:P873H	ENSP00000345062:P873H	P	-	2	0	DCHS2	155475565	1.000000	0.71417	0.029000	0.17559	0.221000	0.24807	7.383000	0.79741	1.630000	0.50440	0.655000	0.94253	CCT		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		8	84	1	0	1.12685e-05	0.004482	1.34403e-05	8	84				
FGB	2244	broad.mit.edu	37	4	155487754	155487754	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:155487754C>T	ENST00000302068.4	+	3	483	c.420C>T	c.(418-420)acC>acT	p.T140T	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	140					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.T140T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTCCCAGACCTCCTCTTCTT	0.413																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(418-420)ACC>ACT		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						164.0	155.0	158.0					4																	155487754		2203	4300	6503	SO:0001819	synonymous_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487754C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.420C>T	4.37:g.155487754C>T						FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Silent_p.T137T|FGB_uc010ipv.2_Silent_p.T78T|FGB_uc010ipw.2_Silent_p.T137T|FGB_uc003ioc.3_Intron	p.T140T	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	459	+	all_hematologic(180;0.215)	Renal(120;0.0458)	140					A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	c.420C>T	CCDS3786.1																																																																																				0.413	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		16	113	0	0	0	0.003163	0	16	113				
GUCY1A3	2982	broad.mit.edu	37	4	156634571	156634571	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:156634571C>A	ENST00000296518.7	+	7	1617	c.1408C>A	c.(1408-1410)Caa>Aaa	p.Q470K	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q212K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q470K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	470					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.Q470K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGGCAAGGGCAAGTTGTGCA	0.527																																							uc003iov.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1408-1410)CAA>AAA		guanylate cyclase 1, soluble, alpha 3 isoform A							97.0	92.0	94.0					4																	156634571		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634571C>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1408C>A	4.37:g.156634571C>A	ENSP00000296518:p.Gln470Lys					GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q470K|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q470K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q469K|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q470K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.Q235K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q470K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.Q235K|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q470K	p.Q470K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1944	+	all_hematologic(180;0.24)	Renal(120;0.0854)	470					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1408C>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670582	0.47781	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.88	5.88	0.94601	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.097925	0.44902	D	0.000403	T	0.73401	0.3582	N	0.11106	0.095	0.45097	D	0.998114	B;B	0.15141	0.012;0.012	B;B	0.14023	0.01;0.01	T	0.67457	-0.5666	10	0.30078	T	0.28	.	15.6948	0.77488	0.0:0.8639:0.1361:0.0	.	470;470	B3KU69;Q02108	.;GCYA3_HUMAN	K	470;470;470;470;212;470;470	ENSP00000424361:Q470K;ENSP00000421493:Q470K;ENSP00000426968:Q470K;ENSP00000412201:Q470K;ENSP00000377418:Q212K;ENSP00000296518:Q470K;ENSP00000426040:Q470K	ENSP00000296518:Q470K	Q	+	1	0	GUCY1A3	156854021	0.996000	0.38824	0.800000	0.32199	0.997000	0.91878	2.509000	0.45459	2.774000	0.95407	0.655000	0.94253	CAA		0.527	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			10	64	1	0	2.17888e-05	0.006214	2.56155e-05	10	64				
GUCY1B3	2983	broad.mit.edu	37	4	156711063	156711063	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:156711063G>T	ENST00000264424.8	+	5	577	c.495G>T	c.(493-495)aaG>aaT	p.K165N	GUCY1B3_ENST00000505764.1_Splice_Site_p.K145N|GUCY1B3_ENST00000502959.1_Splice_Site_p.K187N|GUCY1B3_ENST00000503520.1_Splice_Site_p.K165N|GUCY1B3_ENST00000505154.1_Splice_Site_p.K97N|GUCY1B3_ENST00000507146.1_Splice_Site_p.K97N|GUCY1B3_ENST00000513437.1_Splice_Site_p.K97N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	165					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.K165N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TAGACATGAAGGTAACAAACA	0.368																																							uc003ipc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(493-495)AAG>AAT		guanylate cyclase 1, soluble, beta 3							131.0	122.0	125.0					4																	156711063		1933	4146	6079	SO:0001630	splice_region_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156711063G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.495+1G>T	4.37:g.156711063G>T						GUCY1B3_uc011cio.1_Missense_Mutation_p.K187N|GUCY1B3_uc011cip.1_Missense_Mutation_p.K145N|GUCY1B3_uc003ipd.2_Missense_Mutation_p.K93N|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K165N|GUCY1B3_uc010iqg.2_Missense_Mutation_p.K93N|GUCY1B3_uc011ciq.1_Missense_Mutation_p.K93N	p.K165N	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	5	662	+	all_hematologic(180;0.24)	Renal(120;0.0854)	165					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.495G>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038430	0.75617	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.56	5.56	0.83823	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.045076	0.85682	D	0.000000	T	0.52517	0.1739	L	0.42686	1.345	0.80722	D	1	B;B;P;B;B	0.41188	0.155;0.091;0.741;0.128;0.034	B;B;P;B;B	0.51453	0.048;0.105;0.67;0.029;0.063	T	0.43829	-0.9367	10	0.46703	T	0.11	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	145;187;97;165;165	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	N	97;187;145;97;165;165;97	ENSP00000427226:K97N;ENSP00000426786:K187N;ENSP00000426319:K145N;ENSP00000422313:K97N;ENSP00000264424:K165N;ENSP00000420842:K165N;ENSP00000425065:K97N	ENSP00000264424:K165N	K	+	3	2	GUCY1B3	156930513	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.738000	0.98835	2.777000	0.95525	0.655000	0.94253	AAG		0.368	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		Missense_Mutation	13	74	1	0	1.05317e-09	0.00245	1.48897e-09	13	74				
RAPGEF2	9693	broad.mit.edu	37	4	160251586	160251586	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:160251586C>G	ENST00000264431.4	+	7	1339	c.920C>G	c.(919-921)tCt>tGt	p.S307C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	307	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S295C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACTTTTCTTTCTAGCCCAATG	0.383																																							uc003iqg.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(919-921)TCT>TGT		Rap guanine nucleotide exchange factor 2							143.0	134.0	136.0					4																	160251586		1828	4079	5907	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251586C>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.920C>G	4.37:g.160251586C>G	ENSP00000264431:p.Ser307Cys						p.S307C	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1230	+	all_hematologic(180;0.24)		307			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.920C>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285000	0.59867	.	.	ENSG00000109756	ENST00000264431	T	0.39787	1.06	5.78	4.93	0.64822	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.052616	0.85682	N	0.000000	T	0.42832	0.1220	L	0.54323	1.7	0.58432	D	0.999995	B	0.09022	0.002	B	0.15052	0.012	T	0.32666	-0.9898	10	0.54805	T	0.06	.	17.2207	0.86956	0.0:0.867:0.133:0.0	.	307	Q9Y4G8	RPGF2_HUMAN	C	307	ENSP00000264431:S307C	ENSP00000264431:S307C	S	+	2	0	RAPGEF2	160471036	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.678000	0.61641	1.560000	0.49568	0.655000	0.94253	TCT		0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		11	109	0	0	0	0.003163	0	11	109				
FSTL5	56884	broad.mit.edu	37	4	162307027	162307027	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:162307027A>G	ENST00000306100.5	-	16	2852	c.2416T>C	c.(2416-2418)Ttt>Ctt	p.F806L	FSTL5_ENST00000536695.1_Missense_Mutation_p.F805L|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F805L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F796L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	806						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F806L(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)		TATTGACCAAACAAGCCACTG	0.433																																							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.(2416-2418)TTT>CTT		follistatin-like 5 isoform a							200.0	183.0	189.0					4																	162307027		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307027A>G	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.2416T>C	4.37:g.162307027A>G	ENSP00000305334:p.Phe806Leu					FSTL5_uc003iqi.2_Missense_Mutation_p.F805L|FSTL5_uc010iqv.2_Missense_Mutation_p.F796L|uc010iqu.1_RNA	p.F806L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2852	-	all_hematologic(180;0.24)		806					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2416T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001638	0.74818	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.989;0.999;0.995	T	0.61773	-0.6994	10	0.87932	D	0	.	15.2005	0.73132	1.0:0.0:0.0:0.0	.	796;805;806	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	806;805;796;805	ENSP00000305334:F806L;ENSP00000368462:F805L;ENSP00000389270:F796L;ENSP00000440409:F805L	ENSP00000305334:F806L	F	-	1	0	FSTL5	162526477	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.933000	0.92911	2.180000	0.69256	0.533000	0.62120	TTT		0.433	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		7	123	0	0	0	0.001984	0	7	123				
MARCH1	55016	broad.mit.edu	37	4	165118375	165118375	+	Intron	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:165118375C>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.L163L(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)				CCTCGTCATCCAGGCCCTCCA	0.547																																							uc011cjk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)CTG>CTT		acidic nuclear phosphoprotein 32C							128.0	113.0	118.0					4																	165118375		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118375C>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.113-85561G>T	4.37:g.165118375C>A						MARCH1_uc003iqs.1_Intron	p.L163L	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	489	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	163			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.489G>T	CCDS54814.1																																																																																				0.547	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		6	69	1	0	1.26484e-09	0.00308	1.78055e-09	6	69				
TLL1	7092	broad.mit.edu	37	4	166976235	166976235	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:166976235G>C	ENST00000061240.2	+	13	2179	c.1532G>C	c.(1531-1533)aGa>aCa	p.R511T	RNA5SP170_ENST00000517150.1_RNA|TLL1_ENST00000507499.1_Missense_Mutation_p.R534T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	511	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R511T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAGATTGAAAGACATGACAAT	0.348																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1531-1533)AGA>ACA		tolloid-like 1 precursor							88.0	88.0	88.0					4																	166976235		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166976235G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1532G>C	4.37:g.166976235G>C	ENSP00000061240:p.Arg511Thr					TLL1_uc011cjn.1_Missense_Mutation_p.R534T|TLL1_uc011cjo.1_Missense_Mutation_p.R335T	p.R511T	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	13	2179	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	511			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1532G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388149	0.42308	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.57907	2.23;0.37	5.42	4.59	0.56863	CUB (5);	0.000000	0.85682	U	0.000000	T	0.57873	0.2083	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.91635	0.999;0.761	T	0.55698	-0.8100	10	0.27785	T	0.31	.	14.7072	0.69200	0.0701:0.0:0.9299:0.0	.	534;511	E9PD25;O43897	.;TLL1_HUMAN	T	511;534	ENSP00000061240:R511T;ENSP00000426082:R534T	ENSP00000061240:R511T	R	+	2	0	TLL1	167195685	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	5.672000	0.68102	1.429000	0.47314	-0.459000	0.05422	AGA		0.348	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			7	91	0	0	0	0.00308	0	7	91				
TLL1	7092	broad.mit.edu	37	4	166999115	166999115	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:166999115A>T	ENST00000061240.2	+	18	3022	c.2375A>T	c.(2374-2376)gAc>gTc	p.D792V	TLL1_ENST00000507499.1_Missense_Mutation_p.D815V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	792	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D792V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACTGGCCAGACAAGTACCCA	0.473																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2374-2376)GAC>GTC		tolloid-like 1 precursor							129.0	106.0	114.0					4																	166999115		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166999115A>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2375A>T	4.37:g.166999115A>T	ENSP00000061240:p.Asp792Val					TLL1_uc011cjn.1_Missense_Mutation_p.D815V|TLL1_uc011cjo.1_Missense_Mutation_p.D616V	p.D792V	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	18	3022	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	792			CUB 4.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2375A>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522048	0.85600	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.35973	1.28;1.28	6.02	4.82	0.62117	CUB (5);	0.000000	0.85682	U	0.000000	T	0.61160	0.2325	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65088	-0.6253	10	0.66056	D	0.02	.	12.5712	0.56339	0.8754:0.0:0.0:0.1246	.	815;792	E9PD25;O43897	.;TLL1_HUMAN	V	792;815	ENSP00000061240:D792V;ENSP00000426082:D815V	ENSP00000061240:D792V	D	+	2	0	TLL1	167218565	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.287000	0.95975	1.051000	0.40369	0.528000	0.53228	GAC		0.473	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			8	48	0	0	0	0.00308	0	8	48				
PALLD	23022	broad.mit.edu	37	4	169432821	169432821	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:169432821G>A	ENST00000505667.1	+	2	339	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.E56K|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	56					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.E56K(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)		CTCCGAAACAGAAGATTTTGA	0.488									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)GAA>AAA		palladin isoform 2							37.0	38.0	38.0					4																	169432821		2203	4300	6503	SO:0001583	missense	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.chr4:169432821G>A	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.166G>A	4.37:g.169432821G>A	ENSP00000425556:p.Glu56Lys					PALLD_uc003iru.2_Missense_Mutation_p.E56K	p.E56K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	377	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	56					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.166G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449849	0.63290	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898	T;T;T	0.73469	-0.69;-0.44;-0.75	5.3	5.3	0.74995	.	.	.	.	.	T	0.77136	0.4086	M	0.70275	2.135	0.80722	D	1	P;P	0.46395	0.877;0.877	B;B	0.43360	0.417;0.417	T	0.78783	-0.2069	9	0.42905	T	0.14	.	18.9291	0.92558	0.0:0.0:1.0:0.0	.	56;56	B7ZMM5;B2RTX2	.;.	K	56;56;35	ENSP00000261509:E56K;ENSP00000425556:E56K;ENSP00000423063:E35K	ENSP00000261509:E56K	E	+	1	0	PALLD	169669396	1.000000	0.71417	0.115000	0.21578	0.103000	0.19146	8.510000	0.90532	2.486000	0.83907	0.591000	0.81541	GAA		0.488	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		6	38	0	0	0	0.001168	0	6	38				
GALNTL6	442117	broad.mit.edu	37	4	172735780	172735780	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:172735780G>T	ENST00000506823.1	+	2	706	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	GALNTL6_ENST00000511251.1_Missense_Mutation_p.V17L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	17					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V17L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTGTTCACGGTGGCTTTAAT	0.478																																							uc003isv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(49-51)GTG>TTG		N-acetylgalactosaminyltransferase-like 6							127.0	128.0	127.0					4																	172735780		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:172735780G>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.49G>T	4.37:g.172735780G>T	ENSP00000423313:p.Val17Leu						p.V17L	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			2	785	+			17			Helical; Signal-anchor for type II membrane protein; (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.49G>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533504	0.45073	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.55760	0.5	5.7	5.7	0.88788	.	0.866507	0.09606	N	0.779604	T	0.44787	0.1310	N	0.22421	0.69	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.16541	-1.0399	10	0.22109	T	0.4	.	18.8198	0.92092	0.0:0.0:1.0:0.0	.	17	Q49A17	GLTL6_HUMAN	L	17	ENSP00000423313:V17L	ENSP00000385382:V17L	V	+	1	0	GALNTL6	172972355	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.731000	0.62022	2.687000	0.91594	0.563000	0.77884	GTG		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		18	94	1	0	2.4624e-09	0.008871	3.43201e-09	18	94				
WDR17	116966	broad.mit.edu	37	4	177067216	177067216	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:177067216C>A	ENST00000280190.4	+	13	1828	c.1672C>A	c.(1672-1674)Cca>Aca	p.P558T	WDR17_ENST00000507824.2_Missense_Mutation_p.P541T|WDR17_ENST00000508596.1_Missense_Mutation_p.P534T|WDR17_ENST00000393643.2_Missense_Mutation_p.P534T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	558								p.P558T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCAGATCAACCATTGAAAGT	0.393																																							uc003iuj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1672-1674)CCA>ACA		WD repeat domain 17 isoform 1							141.0	135.0	137.0					4																	177067216		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177067216C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1672C>A	4.37:g.177067216C>A	ENSP00000280190:p.Pro558Thr					WDR17_uc003iuk.2_Missense_Mutation_p.P534T|WDR17_uc003ium.3_Missense_Mutation_p.P534T|WDR17_uc003iul.1_Intron	p.P558T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	1828	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	558			WD 9.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1672C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298302	0.81025	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61627	3.59;0.09;3.59	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70285	-0.4914	10	0.27785	T	0.31	-17.0185	19.3758	0.94508	0.0:1.0:0.0:0.0	.	534;558	E7EQX0;Q8IZU2	.;WDR17_HUMAN	T	534;534;558;541	ENSP00000422763:P534T;ENSP00000377258:P534T;ENSP00000280190:P558T	ENSP00000280190:P558T	P	+	1	0	WDR17	177304210	1.000000	0.71417	0.231000	0.23993	0.952000	0.60782	7.138000	0.77305	2.579000	0.87056	0.563000	0.77884	CCA		0.393	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			16	95	1	0	3.41278e-10	0.00499	4.93125e-10	16	95				
ASB5	140458	broad.mit.edu	37	4	177142614	177142614	+	Missense_Mutation	SNP	C	C	A	rs140659869		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:177142614C>A	ENST00000296525.3	-	4	635	c.522G>T	c.(520-522)gaG>gaT	p.E174D	ASB5_ENST00000512254.1_Missense_Mutation_p.E121D|ASB5_ENST00000511879.1_5'Flank	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.E174D(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACTGGCGGCCTCATGCGTTG	0.498																																							uc003iuq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(520-522)GAG>GAT		ankyrin repeat and SOCS box-containing protein							117.0	117.0	117.0					4																	177142614		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142614C>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.522G>T	4.37:g.177142614C>A	ENSP00000296525:p.Glu174Asp					ASB5_uc003iup.1_Missense_Mutation_p.E121D	p.E174D	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	538	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	174			ANK 4.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.522G>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898774	0.52227	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.64260	0.62;-0.09	5.91	2.32	0.28847	Ankyrin repeat-containing domain (4);	0.047998	0.85682	D	0.000000	T	0.58004	0.2092	L	0.31526	0.94	0.48395	D	0.99964	P;D	0.57257	0.929;0.979	P;P	0.56127	0.499;0.792	T	0.51092	-0.8749	10	0.34782	T	0.22	-11.2284	8.3844	0.32491	0.0:0.527:0.0:0.473	.	174;121	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	D	174;121	ENSP00000296525:E174D;ENSP00000422877:E121D	ENSP00000296525:E174D	E	-	3	2	ASB5	177379608	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	1.685000	0.37659	0.127000	0.18452	0.655000	0.94253	GAG		0.498	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			7	101	1	0	1.76689e-08	0.006214	2.38331e-08	7	101				
TENM3	55714	broad.mit.edu	37	4	183714264	183714264	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:183714264A>T	ENST00000511685.1	+	26	6562	c.6439A>T	c.(6439-6441)Ata>Tta	p.I2147L	TENM3_ENST00000406950.2_Missense_Mutation_p.I2147L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2147					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I2147L(1)									CAATGAAAAGATAATGTGGCG	0.443																																							uc003ivd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(6439-6441)ATA>TTA		odz, odd Oz/ten-m homolog 3							119.0	116.0	117.0					4																	183714264		1968	4165	6133	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714264A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6439A>T	4.37:g.183714264A>T	ENSP00000424226:p.Ile2147Leu						p.I2147L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6476	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2147			Extracellular (Potential).|YD 18.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6439A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699520	0.30142	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85629	-2.01;-2.01	4.75	4.75	0.60458	.	.	.	.	.	T	0.64538	0.2607	N	0.01297	-0.9	0.37999	D	0.934163	B	0.06786	0.001	B	0.04013	0.001	T	0.63501	-0.6623	9	0.22109	T	0.4	.	14.4319	0.67257	1.0:0.0:0.0:0.0	.	2147	Q9P273	TEN3_HUMAN	L	2147	ENSP00000424226:I2147L;ENSP00000385276:I2147L	ENSP00000385276:I2147L	I	+	1	0	ODZ3	183951258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.790000	0.62453	1.992000	0.58205	0.374000	0.22700	ATA		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			22	99	0	0	0	0.004656	0	22	99				
EXOC3	11336	broad.mit.edu	37	5	453846	453846	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:453846G>A	ENST00000512944.1	+	4	915	c.726G>A	c.(724-726)aaG>aaA	p.K242K	EXOC3_ENST00000315013.5_Silent_p.K242K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	253					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.K242K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGGCCCAAGAATTGGAAGG	0.483																																							uc003jba.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)AAG>AAA		Sec6 protein							83.0	82.0	82.0					5																	453846		1911	4129	6040	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:453846G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.726G>A	5.37:g.453846G>A							p.K242K	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	854	+		Ovarian(839;0.0563)	253					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.726G>A	CCDS54830.1																																																																																				0.483	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		11	128	0	0	0	0.001368	0	11	128				
SLC6A18	348932	broad.mit.edu	37	5	1242871	1242871	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:1242871T>C	ENST00000324642.3	+	8	1147	c.1024T>C	c.(1024-1026)Tcc>Ccc	p.S342P	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	342					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S342P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAGAGCATCTCCAGGGACGA	0.597																																							uc003jby.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)TCC>CCC		solute carrier family 6, member 18							172.0	140.0	151.0					5																	1242871		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1242871T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1024T>C	5.37:g.1242871T>C	ENSP00000323549:p.Ser342Pro						p.S342P	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1147	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		342			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1024T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006140	0.54361	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	0.907	0.19321	.	0.659757	0.13620	N	0.374471	T	0.72622	0.3483	L	0.51422	1.61	0.09310	N	1	P	0.48407	0.91	P	0.54174	0.744	T	0.61287	-0.7093	10	0.56958	D	0.05	.	3.0843	0.06272	0.4881:0.2452:0.0:0.2667	.	342	Q96N87	S6A18_HUMAN	P	342	ENSP00000323549:S342P	ENSP00000323549:S342P	S	+	1	0	SLC6A18	1295871	0.849000	0.29639	0.851000	0.33527	0.600000	0.36913	0.714000	0.25808	0.186000	0.20125	0.459000	0.35465	TCC		0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		11	126	0	0	0	0.003163	0	11	126				
SEMA5A	9037	broad.mit.edu	37	5	9337872	9337872	+	Silent	SNP	C	C	A	rs111523371	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:9337872C>A	ENST00000382496.5	-	4	842	c.177G>T	c.(175-177)tcG>tcT	p.S59S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	59	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.S59S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGTTAACTGCGAGAAATCCA	0.338													C|||	9	0.00179712	0.0	0.0	5008	,	,		17161	0.0069		0.0	False		,,,				2504	0.002						uc003jek.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(175-177)TCG>TCT		semaphorin 5A precursor							92.0	88.0	89.0					5																	9337872		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9337872C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.177G>T	5.37:g.9337872C>A							p.S59S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			4	889	-			59			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.177G>T	CCDS3875.1																																																																																				0.338	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	74	1	0	2.27111e-07	0.001368	2.92893e-07	10	74				
MARCH6	10299	broad.mit.edu	37	5	10423937	10423937	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:10423937G>T	ENST00000274140.5	+	23	2505		c.e23+1		MARCH6_ENST00000503788.1_Splice_Site|MARCH6_ENST00000449913.2_Splice_Site|MARCH6_ENST00000510792.1_Splice_Site	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AATTGAACAGGTAAGCAAAAT	0.398																																							uc003jet.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e23+1		membrane-associated ring finger (C3HC4) 6							78.0	73.0	75.0					5																	10423937		2203	4300	6503	SO:0001630	splice_region_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10423937G>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2373+1G>T	5.37:g.10423937G>T						MARCH6_uc011cmu.1_Splice_Site_p.Q743_splice|MARCH6_uc003jeu.1_Splice_Site_p.Q489_splice|MARCH6_uc011cmv.1_Splice_Site_p.Q686_splice	p.Q791_splice	NM_005885	NP_005876	O60337	MARH6_HUMAN			23	2556	+								A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Splice_Site	SNP	ENST00000274140.5	37	c.2373_splice	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837901	0.91117	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7074	0.96079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARCH6	10476937	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.381000	0.97205	2.657000	0.90304	0.655000	0.94253	.		0.398	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	Intron	9	51	1	0	7.48243e-07	0.006214	9.3972e-07	9	51				
FBXL7	23194	broad.mit.edu	37	5	15936789	15936789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:15936789G>T	ENST00000504595.1	+	4	1451	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.A312S|FBXL7_ENST00000510662.1_Missense_Mutation_p.A277S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	324					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.A324S(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						GATCTACTGCGCCTCCATCAA	0.667																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(970-972)GCC>TCC		F-box and leucine-rich repeat protein 7							29.0	32.0	31.0					5																	15936789		2187	4276	6463	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936789G>T	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.970G>T	5.37:g.15936789G>T	ENSP00000423630:p.Ala324Ser						p.A324S	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1451	+			324			LRR 6.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.970G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	4.240	0.043436	0.08196	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.50548	4.31;0.74;4.31	5.37	-6.65	0.01795	.	0.545209	0.22291	N	0.061995	T	0.14098	0.0341	N	0.03967	-0.31	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.35351	-0.9792	10	0.06757	T	0.87	.	7.7023	0.28630	0.3429:0.3398:0.3172:0.0	.	324	Q9UJT9	FBXL7_HUMAN	S	324;277;312	ENSP00000423630:A324S;ENSP00000425184:A277S;ENSP00000329632:A312S	ENSP00000329632:A312S	A	+	1	0	FBXL7	15989789	0.000000	0.05858	0.025000	0.17156	0.945000	0.59286	-0.968000	0.03817	-0.979000	0.03529	-0.302000	0.09304	GCC		0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		9	24	1	0	1.12685e-05	0.004482	1.34403e-05	9	24				
CDH12	1010	broad.mit.edu	37	5	21765193	21765193	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:21765193G>T	ENST00000382254.1	-	12	2495	c.1409C>A	c.(1408-1410)aCc>aAc	p.T470N	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.T430N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T470N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T470N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTTTGCTGGTCAATAAAGG	0.313										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1408-1410)ACC>AAC		cadherin 12, type 2 preproprotein							64.0	65.0	65.0					5																	21765193		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21765193G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1409C>A	5.37:g.21765193G>T	ENSP00000371689:p.Thr470Asn	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.T430N|CDH12_uc003jgk.2_Missense_Mutation_p.T470N|uc003jgj.2_Intron	p.T470N	NM_004061	NP_004052	P55289	CAD12_HUMAN			9	1867	-			470			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1409C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259530	0.39995	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54479	0.57;0.57;0.57	5.46	3.67	0.42095	Cadherin (4);Cadherin-like (1);	0.417144	0.30252	N	0.010054	T	0.43590	0.1254	L	0.41415	1.275	0.35567	D	0.805174	B;B	0.21905	0.041;0.062	B;B	0.27608	0.051;0.081	T	0.46871	-0.9160	10	0.30854	T	0.27	.	11.2062	0.48771	0.0697:0.1354:0.7949:0.0	.	430;470	B7Z2U6;P55289	.;CAD12_HUMAN	N	470;470;430	ENSP00000423577:T470N;ENSP00000371689:T470N;ENSP00000428786:T430N	ENSP00000371689:T470N	T	-	2	0	CDH12	21800950	1.000000	0.71417	0.984000	0.44739	0.971000	0.66376	2.191000	0.42640	0.777000	0.33496	0.637000	0.83480	ACC		0.313	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		21	70	1	0	1.96292e-10	0.010504	2.86363e-10	21	70				
CDH12	1010	broad.mit.edu	37	5	21854814	21854814	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:21854814C>A	ENST00000382254.1	-	7	1698	c.612G>T	c.(610-612)caG>caT	p.Q204H	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.Q204H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	204	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q204H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGGTTGTCCCTGAAGAATGC	0.388										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(610-612)CAG>CAT		cadherin 12, type 2 preproprotein							113.0	111.0	112.0					5																	21854814		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854814C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.612G>T	5.37:g.21854814C>A	ENSP00000371689:p.Gln204His	HNSCC(59;0.17)				CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.Q204H	p.Q204H	NM_004061	NP_004052	P55289	CAD12_HUMAN			4	1070	-			204			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.612G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151823	0.38021	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.59364	0.27;0.27	5.4	4.53	0.55603	Cadherin (4);Cadherin-like (1);	0.149114	0.64402	D	0.000008	T	0.46889	0.1416	L	0.28400	0.85	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.54805	T	0.06	.	14.4045	0.67073	0.0:0.9286:0.0:0.0714	.	204	P55289	CAD12_HUMAN	H	204	ENSP00000423577:Q204H;ENSP00000371689:Q204H	ENSP00000371689:Q204H	Q	-	3	2	CDH12	21890571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.032000	0.41127	1.411000	0.46957	0.650000	0.86243	CAG		0.388	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		11	55	1	0	5.50884e-06	0.001368	6.62272e-06	11	55				
CDH10	1008	broad.mit.edu	37	5	24491830	24491830	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:24491830G>C	ENST00000264463.4	-	11	2238	c.1731C>G	c.(1729-1731)agC>agG	p.S577R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	577	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S577R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCCTGTGCTGCTCTGAATTG	0.488										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1729-1731)AGC>AGG		cadherin 10, type 2 preproprotein							142.0	121.0	128.0					5																	24491830		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491830G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1731C>G	5.37:g.24491830G>C	ENSP00000264463:p.Ser577Arg	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.S577R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2063	-			577			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1731C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348859	0.61183	.	.	ENSG00000040731	ENST00000264463	T	0.54675	0.56	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	H	0.94264	3.515	0.46437	D	0.999045	D	0.89917	1.0	D	0.97110	1.0	D	0.83914	0.0297	10	0.87932	D	0	.	12.783	0.57487	0.0739:0.0:0.9261:0.0	.	577	Q9Y6N8	CAD10_HUMAN	R	577	ENSP00000264463:S577R	ENSP00000264463:S577R	S	-	3	2	CDH10	24527587	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	4.077000	0.57598	2.857000	0.98124	0.650000	0.86243	AGC		0.488	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		15	53	0	0	0	0.00245	0	15	53				
CDH9	1007	broad.mit.edu	37	5	26906170	26906170	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:26906170G>T	ENST00000231021.4	-	5	881	c.709C>A	c.(709-711)Cag>Aag	p.Q237K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q237K(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						TCTTTGGCCTGTATAACAACC	0.443																																					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.(709-711)CAG>AAG		cadherin 9, type 2 preproprotein							242.0	215.0	224.0					5																	26906170		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.chr5:26906170G>T	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.709C>A	5.37:g.26906170G>T	ENSP00000231021:p.Gln237Lys					CDH9_uc010iug.2_Missense_Mutation_p.Q237K	p.Q237K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			5	878	-			237			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.709C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871794	0.91587	.	.	ENSG00000113100	ENST00000231021	T	0.60797	0.16	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	L	0.37897	1.145	0.52501	D	0.99995	D	0.56521	0.976	D	0.63488	0.915	T	0.61763	-0.6996	9	.	.	.	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	237	Q9ULB4	CADH9_HUMAN	K	237	ENSP00000231021:Q237K	.	Q	-	1	0	CDH9	26941927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.802000	0.96397	0.650000	0.86243	CAG		0.443	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		19	137	1	0	1.00905e-13	0.008871	1.62372e-13	19	137				
PDZD2	23037	broad.mit.edu	37	5	32089569	32089569	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:32089569C>A	ENST00000438447.1	+	20	6403	c.6015C>A	c.(6013-6015)gtC>gtA	p.V2005V	PDZD2_ENST00000282493.3_Silent_p.V2005V			O15018	PDZD2_HUMAN	PDZ domain containing 2	2005					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.V2005V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACATGGCTGTCCTCTCTGAAC	0.607																																							uc003jhl.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(6013-6015)GTC>GTA		PDZ domain containing 2							119.0	121.0	120.0					5																	32089569		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089569C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6015C>A	5.37:g.32089569C>A						PDZD2_uc003jhm.2_Silent_p.V2005V	p.V2005V	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	6403	+			2005					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6015C>A	CCDS34137.1																																																																																				0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			28	358	1	0	3.1745e-13	0.008361	5.05045e-13	28	358				
ZFR	51663	broad.mit.edu	37	5	32355983	32355983	+	Silent	SNP	C	C	G	rs139087778		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:32355983C>G	ENST00000265069.8	-	20	3210	c.3108G>C	c.(3106-3108)ccG>ccC	p.P1036P	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1036	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1036P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGCTCATTTGCGGTAATGGAT	0.398																																							uc003jhr.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3106-3108)CCG>CCC		zinc finger RNA binding protein							199.0	181.0	187.0					5																	32355983		2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32355983C>G	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.3108G>C	5.37:g.32355983C>G						ZFR_uc010ium.1_Silent_p.P167P|ZFR_uc011cny.1_RNA	p.P1036P	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	20	3188	-			1036			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.3108G>C	CCDS34139.1																																																																																				0.398	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			27	178	0	0	0	0.008361	0	27	178				
TARS	6897	broad.mit.edu	37	5	33453500	33453500	+	Missense_Mutation	SNP	G	G	T	rs569001039		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33453500G>T	ENST00000265112.3	+	4	747	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	TARS_ENST00000541634.1_Missense_Mutation_p.D42Y|TARS_ENST00000455217.2_Missense_Mutation_p.D179Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.D146Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	146					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.D146Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAAGTTTGAGGATGAGGAAGC	0.448																																							uc003jhy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)GAT>TAT		threonyl-tRNA synthetase	L-Threonine(DB00156)						114.0	116.0	115.0					5																	33453500		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33453500G>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.436G>T	5.37:g.33453500G>T	ENSP00000265112:p.Asp146Tyr					TARS_uc011cob.1_Missense_Mutation_p.D134Y|TARS_uc010iup.1_Missense_Mutation_p.D87Y|TARS_uc011coc.1_Missense_Mutation_p.D167Y|TARS_uc003jhz.2_Missense_Mutation_p.D42Y|TARS_uc011cod.1_Intron	p.D146Y	NM_152295	NP_689508	P26639	SYTC_HUMAN			4	731	+			146					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.436G>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301492	0.40694	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.78	4.92	0.64577	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);Beta-grasp fold, ferredoxin-type (1);	0.086238	0.85682	D	0.000000	T	0.25827	0.0629	M	0.87971	2.92	0.80722	D	1	P;P;B	0.48230	0.554;0.907;0.255	B;P;B	0.51833	0.361;0.681;0.252	T	0.08534	-1.0717	10	0.62326	D	0.03	-40.8509	14.6912	0.69087	0.0694:0.0:0.9306:0.0	.	179;42;146	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	Y	146;146;42;179	ENSP00000424387:D146Y;ENSP00000265112:D146Y;ENSP00000438469:D42Y;ENSP00000387710:D179Y	ENSP00000265112:D146Y	D	+	1	0	TARS	33489257	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	5.817000	0.69229	1.466000	0.48025	0.585000	0.79938	GAT		0.448	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		26	147	1	0	2.80507e-11	0.002445	4.2012e-11	26	147				
ADAMTS12	81792	broad.mit.edu	37	5	33576991	33576991	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33576991G>T	ENST00000504830.1	-	19	3475	c.3140C>A	c.(3139-3141)gCa>gAa	p.A1047E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962E|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGCTGATTGCTGGAGTGCT	0.552										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3139-3141)GCA>GAA		ADAM metallopeptidase with thrombospondin type 1							141.0	135.0	137.0					5																	33576991		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576991G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3140C>A	5.37:g.33576991G>T	ENSP00000422554:p.Ala1047Glu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962E	p.A1047E	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3303	-			1047			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3140C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.802397	0.00611	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59224	0.28;0.28	5.08	3.21	0.36854	.	0.931548	0.09099	N	0.848747	T	0.38612	0.1047	N	0.24115	0.695	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.36418	0.224;0.112	T	0.39165	-0.9627	10	0.02654	T	1	.	4.1349	0.10166	0.2346:0.1907:0.5747:0.0	.	962;1047	P58397-3;P58397	.;ATS12_HUMAN	E	1047;962	ENSP00000422554:A1047E;ENSP00000344847:A962E	ENSP00000344847:A962E	A	-	2	0	ADAMTS12	33612748	0.000000	0.05858	0.004000	0.12327	0.096000	0.18686	0.191000	0.17076	0.656000	0.30886	0.655000	0.94253	GCA		0.552	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	79	1	0	2.31682e-05	0.003163	2.70915e-05	13	79				
RXFP3	51289	broad.mit.edu	37	5	33937208	33937208	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33937208C>A	ENST00000330120.3	+	1	718	c.363C>A	c.(361-363)gtC>gtA	p.V121V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	121					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.V121V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCTCTTCGTCACCAACCTGG	0.592																																							uc003jic.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(361-363)GTC>GTA		relaxin/insulin-like family peptide receptor 3							135.0	124.0	127.0					5																	33937208		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937208C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.363C>A	5.37:g.33937208C>A							p.V121V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	720	+			121			Helical; Name=2; (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.363C>A	CCDS3900.1																																																																																				0.592	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		16	166	1	0	2.23348e-06	0.004007	2.74033e-06	16	166				
C7	730	broad.mit.edu	37	5	40979846	40979846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:40979846G>T	ENST00000313164.9	+	17	2544	c.2185G>T	c.(2185-2187)Gct>Tct	p.A729S	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	729	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.A729S(1)					Ovarian(839;0.0112)				GGATGTATGTGCTCAAGATGA	0.393																																							uc003jmh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2185-2187)GCT>TCT		complement component 7 precursor							82.0	80.0	81.0					5																	40979846		1911	4139	6050	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979846G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2185G>T	5.37:g.40979846G>T	ENSP00000322061:p.Ala729Ser					C7_uc011cpn.1_RNA	p.A729S	NM_000587	NP_000578	P10643	CO7_HUMAN			17	2299	+		Ovarian(839;0.0112)	729			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2185G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079233	0.76528	.	.	ENSG00000112936	ENST00000313164	T	0.63580	-0.05	5.8	5.8	0.92144	Factor I / membrane attack complex (1);	0.348037	0.29165	N	0.012952	T	0.79387	0.4437	M	0.67397	2.05	0.54753	D	0.999981	D	0.67145	0.996	D	0.83275	0.996	T	0.79773	-0.1662	10	0.72032	D	0.01	-24.0601	19.6366	0.95736	0.0:0.0:1.0:0.0	.	729	P10643	CO7_HUMAN	S	729	ENSP00000322061:A729S	ENSP00000322061:A729S	A	+	1	0	C7	41015603	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	6.586000	0.74067	2.745000	0.94114	0.563000	0.77884	GCT		0.393	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			5	61	1	0	0.000602214	0.000602	0.000663582	5	61				
MROH2B	133558	broad.mit.edu	37	5	41038867	41038867	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:41038867C>T	ENST00000399564.4	-	21	2635	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I	MROH2B_ENST00000506092.2_Missense_Mutation_p.V284I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	729								p.V729I(1)									AGAGACAGGACTTGGGATATG	0.517																																							uc003jmj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2185-2187)GTC>ATC		HEAT repeat family member 7B2							66.0	68.0	67.0					5																	41038867		1956	4146	6102	SO:0001583	missense	133558						binding	g.chr5:41038867C>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.2185G>A	5.37:g.41038867C>T	ENSP00000382476:p.Val729Ile					HEATR7B2_uc003jmi.3_Missense_Mutation_p.V284I	p.V729I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			21	2675	-			729					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2185G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.198840	0.01581	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66638	3.3;-0.22	5.73	3.5	0.40072	Armadillo-type fold (1);	0.281916	0.25469	N	0.030447	T	0.34600	0.0903	N	0.03983	-0.305	0.23594	N	0.997336	B	0.17038	0.02	B	0.16722	0.016	T	0.29336	-1.0015	10	0.02654	T	1	.	7.9089	0.29778	0.0:0.7578:0.0:0.2422	.	729	Q7Z745	HTRB2_HUMAN	I	284;434;729	ENSP00000441504:V284I;ENSP00000382476:V729I	ENSP00000296803:V434I	V	-	1	0	HEATR7B2	41074624	1.000000	0.71417	0.996000	0.52242	0.169000	0.22640	0.795000	0.26972	1.196000	0.43129	0.655000	0.94253	GTC		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	33	0	0	0	0.008291	0	8	33				
C6	729	broad.mit.edu	37	5	41181563	41181563	+	Silent	SNP	C	C	A	rs554864011		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:41181563C>A	ENST00000263413.3	-	7	1089	c.825G>T	c.(823-825)ggG>ggT	p.G275G	C6_ENST00000337836.5_Silent_p.G275G|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	275	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.G275G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGAGCTCCCCCCCTGACTTG	0.378																																							uc003jmk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(823-825)GGG>GGT		complement component 6 precursor							86.0	86.0	86.0					5																	41181563		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181563C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.825G>T	5.37:g.41181563C>A						C6_uc003jml.1_Silent_p.G275G	p.G275G	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1035	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	275			MACPF.			Silent	SNP	ENST00000263413.3	37	c.825G>T	CCDS3936.1																																																																																				0.378	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			18	84	1	0	2.35188e-11	0.006122	3.54132e-11	18	84				
ZNF131	7690	broad.mit.edu	37	5	43174846	43174846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:43174846G>T	ENST00000399534.1	+	7	1527	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.V461L|ZNF131_ENST00000306938.4_Missense_Mutation_p.V461L|ZNF131_ENST00000509156.1_Missense_Mutation_p.V495L|ZNF131_ENST00000505606.2_Missense_Mutation_p.V461L			P52739	ZN131_HUMAN	zinc finger protein 131	495					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V461L(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAAGTGACTGTGGAACAAGT	0.478																																							uc011cpw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1483-1485)GTG>TTG		zinc finger protein 131							62.0	60.0	61.0					5																	43174846		2050	4205	6255	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174846G>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1483G>T	5.37:g.43174846G>T	ENSP00000382450:p.Val495Leu					ZNF131_uc003jnj.3_Missense_Mutation_p.V216L|ZNF131_uc003jnk.2_Missense_Mutation_p.V461L|ZNF131_uc003jnn.3_Missense_Mutation_p.V216L|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.V495L	NM_003432	NP_003423	P52739	ZN131_HUMAN			7	1519	+			495					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1483G>T		.	.	.	.	.	.	.	.	.	.	G	13.43	2.233602	0.39498	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.81	4.93	0.64822	.	0.064020	0.64402	D	0.000008	T	0.56645	0.1999	L	0.32530	0.975	0.40705	D	0.982511	P;B	0.37441	0.595;0.008	B;B	0.31016	0.123;0.015	T	0.62553	-0.6830	10	0.72032	D	0.01	-5.4749	11.2152	0.48823	0.0686:0.1291:0.8024:0.0	.	495;461	P52739;P52739-2	ZN131_HUMAN;.	L	495;461;495;461;461	ENSP00000426504:V495L;ENSP00000305804:V461L;ENSP00000382450:V495L;ENSP00000423945:V461L;ENSP00000421246:V461L	ENSP00000305804:V461L	V	+	1	0	ZNF131	43210603	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.510000	0.53393	1.446000	0.47643	0.460000	0.39030	GTG		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		17	46	1	0	8.00594e-06	0.007413	9.61886e-06	17	46				
GPX8	493869	broad.mit.edu	37	5	54456891	54456891	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:54456891C>T	ENST00000503787.1	+	2	349	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000515370.1_Silent_p.L41L|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	92					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.L92L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	GCTGAAGGAACTGCACAAAGA	0.473																																							uc003jpq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CTG>TTG		glutathione peroxidase 8	Glutathione(DB00143)						80.0	76.0	77.0					5																	54456891		2203	4300	6503	SO:0001819	synonymous_variant	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456891C>T	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.274C>T	5.37:g.54456891C>T						CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Silent_p.L41L	p.L92L	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN			2	311	+			92						Silent	SNP	ENST00000503787.1	37	c.274C>T	CCDS34156.1																																																																																				0.473	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		11	67	0	0	0	0.001368	0	11	67				
SGTB	54557	broad.mit.edu	37	5	64976515	64976515	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:64976515C>A	ENST00000381007.4	-	7	821	c.586G>T	c.(586-588)Gca>Tca	p.A196S		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	196								p.A196S(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTCTGTTCTGCTATTTTCAGA	0.333																																							uc003jud.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GCA>TCA		small glutamine-rich tetratricopeptide repeat							203.0	206.0	205.0					5																	64976515		2203	4300	6503	SO:0001583	missense	54557						binding	g.chr5:64976515C>A	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.586G>T	5.37:g.64976515C>A	ENSP00000370395:p.Ala196Ser						p.A196S	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	7	806	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	196						Missense_Mutation	SNP	ENST00000381007.4	37	c.586G>T	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409968	0.96072	.	.	ENSG00000197860	ENST00000381007	T	0.68331	-0.32	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);	0.055467	0.64402	D	0.000001	T	0.78509	0.4294	M	0.81614	2.55	0.80722	D	1	B	0.29627	0.252	B	0.43331	0.416	T	0.79117	-0.1935	10	0.62326	D	0.03	-9.5714	18.9824	0.92760	0.0:1.0:0.0:0.0	.	196	Q96EQ0	SGTB_HUMAN	S	196	ENSP00000370395:A196S	ENSP00000370395:A196S	A	-	1	0	SGTB	65012271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.496000	0.84212	0.557000	0.71058	GCA		0.333	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		10	141	1	0	2.68362e-12	0.001368	4.15855e-12	10	141				
IQGAP2	10788	broad.mit.edu	37	5	75954354	75954354	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:75954354T>A	ENST00000274364.6	+	21	2688	c.2391T>A	c.(2389-2391)gaT>gaA	p.D797E	IQGAP2_ENST00000502745.1_Missense_Mutation_p.D293E|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D293E|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D299E	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	797					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.D797E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTGATTTGGATTTCCAGGAGG	0.433																																							uc003kek.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2389-2391)GAT>GAA		IQ motif containing GTPase activating protein 2							109.0	106.0	107.0					5																	75954354		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75954354T>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2391T>A	5.37:g.75954354T>A	ENSP00000274364:p.Asp797Glu					IQGAP2_uc010izv.2_Missense_Mutation_p.D350E|IQGAP2_uc011csv.1_Missense_Mutation_p.D293E|IQGAP2_uc003kel.2_Missense_Mutation_p.D293E	p.D797E	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	21	2613	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	797					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2391T>A	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187879	0.78789	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.15834	3.59;3.43;2.39;3.48;2.83;3.43;3.42	6.06	3.68	0.42216	.	0.233855	0.46758	D	0.000270	T	0.44561	0.1299	M	0.88241	2.94	0.48236	D	0.999617	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.76071	0.986;0.987;0.986;0.968	T	0.42224	-0.9464	10	0.87932	D	0	-36.293	9.2522	0.37562	0.0:0.2796:0.0:0.7204	.	299;747;293;797	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	E	797;299;770;747;350;293;350;293	ENSP00000274364:D797E;ENSP00000442313:D299E;ENSP00000423672:D770E;ENSP00000421097:D747E;ENSP00000422661:D350E;ENSP00000379535:D293E;ENSP00000426027:D293E	ENSP00000274364:D797E	D	+	3	2	IQGAP2	75990110	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.403000	0.20982	0.531000	0.28639	0.533000	0.62120	GAT		0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		22	83	0	0	0	0.00333	0	22	83				
CRHBP	1393	broad.mit.edu	37	5	76259265	76259265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:76259265G>T	ENST00000274368.4	+	6	1213	c.791G>T	c.(790-792)tGc>tTc	p.C264F	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	264					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.C264F(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GCTGATCTCTGCTACCCCTTT	0.438																																							uc003ker.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(790-792)TGC>TTC		corticotropin releasing hormone binding protein							175.0	176.0	176.0					5																	76259265		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259265G>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.791G>T	5.37:g.76259265G>T	ENSP00000274368:p.Cys264Phe						p.C264F	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1071	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	264					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.791G>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285862	0.80803	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.091855	0.85682	D	0.000000	D	0.83769	0.5326	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85264	0.1052	9	0.87932	D	0	-11.5608	19.7713	0.96366	0.0:0.0:1.0:0.0	.	264	P24387	CRHBP_HUMAN	F	264	.	ENSP00000274368:C264F	C	+	2	0	CRHBP	76295021	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.883000	0.92426	2.662000	0.90505	0.643000	0.83706	TGC		0.438	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		41	202	1	0	2.37825e-27	0.002522	4.52212e-27	41	202				
DMGDH	29958	broad.mit.edu	37	5	78324471	78324471	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78324471C>G	ENST00000255189.3	-	12	1845	c.1817G>C	c.(1816-1818)tGg>tCg	p.W606S	DMGDH_ENST00000540686.1_Missense_Mutation_p.W226S|DMGDH_ENST00000380311.4_Missense_Mutation_p.W405S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	606					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.W606S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCTTCAATCCATCTGCGTTT	0.363																																							uc003kfs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(1816-1818)TGG>TCG		dimethylglycine dehydrogenase precursor							173.0	183.0	179.0					5																	78324471		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78324471C>G	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1817G>C	5.37:g.78324471C>G	ENSP00000255189:p.Trp606Ser					DMGDH_uc011cte.1_Missense_Mutation_p.W456S|DMGDH_uc011ctf.1_Missense_Mutation_p.W405S|DMGDH_uc011ctg.1_Missense_Mutation_p.W226S	p.W606S	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	12	1823	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	606					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1817G>C	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054524	0.75960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.92	5.92	0.95590	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.97110	1.0;0.997;0.966;0.987	D	0.93352	0.6719	10	0.62326	D	0.03	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	226;405;456;606	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	S	606;445;405;226;456	ENSP00000255189:W606S;ENSP00000430972:W445S;ENSP00000369667:W405S;ENSP00000439478:W226S	ENSP00000255189:W606S	W	-	2	0	DMGDH	78360227	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.374000	0.79633	2.809000	0.96659	0.655000	0.94253	TGG		0.363	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		14	280	0	0	0	0.00245	0	14	280				
DMGDH	29958	broad.mit.edu	37	5	78328593	78328593	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78328593C>A	ENST00000255189.3	-	9	1462	c.1434G>T	c.(1432-1434)ctG>ctT	p.L478L	DMGDH_ENST00000540686.1_Silent_p.L98L|DMGDH_ENST00000380311.4_Silent_p.L277L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	478					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTAGACTCCAGCCTTTGAT	0.493																																							uc003kfs.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1432-1434)CTG>CTT		dimethylglycine dehydrogenase precursor							130.0	133.0	132.0					5																	78328593		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78328593C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1434G>T	5.37:g.78328593C>A						DMGDH_uc011cte.1_Silent_p.L328L|DMGDH_uc011ctf.1_Silent_p.L277L|DMGDH_uc011ctg.1_Silent_p.L98L	p.L478L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	9	1440	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	478					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1434G>T	CCDS4044.1																																																																																				0.493	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		14	221	1	0	7.93312e-07	0.00245	9.92523e-07	14	221				
DMGDH	29958	broad.mit.edu	37	5	78347268	78347268	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78347268T>C	ENST00000255189.3	-	5	615	c.587A>G	c.(586-588)tAt>tGt	p.Y196C	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	196					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.Y196C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGTTAGAGAATAAGGATCAAT	0.393																																							uc003kfs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(586-588)TAT>TGT		dimethylglycine dehydrogenase precursor							83.0	81.0	82.0					5																	78347268		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78347268T>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.587A>G	5.37:g.78347268T>C	ENSP00000255189:p.Tyr196Cys					DMGDH_uc011cte.1_Missense_Mutation_p.Y46C|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	p.Y196C	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	5	593	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	196					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.587A>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297195	0.81025	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000539598	D;D	0.81821	-1.54;-1.54	6.06	6.06	0.98353	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.995	P;D	0.69142	0.887;0.962	D	0.89284	0.3614	10	0.59425	D	0.04	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	46;196	F5H1C7;Q9UI17	.;M2GD_HUMAN	C	196;35;46	ENSP00000255189:Y196C;ENSP00000430972:Y35C	ENSP00000255189:Y196C	Y	-	2	0	DMGDH	78383024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.923000	0.87546	2.324000	0.78689	0.533000	0.62120	TAT		0.393	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		9	101	0	0	0	0.001368	0	9	101				
DMGDH	29958	broad.mit.edu	37	5	78350088	78350088	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78350088C>A	ENST00000255189.3	-	4	487	c.459G>T	c.(457-459)cgG>cgT	p.R153R	DMGDH_ENST00000520388.1_5'Flank|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	153					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.R153R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCAGCCAGTCCGAGTCATTT	0.403																																							uc003kfs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(457-459)CGG>CGT		dimethylglycine dehydrogenase precursor							100.0	94.0	96.0					5																	78350088		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78350088C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.459G>T	5.37:g.78350088C>A						DMGDH_uc011cte.1_Silent_p.R3R|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	p.R153R	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	4	465	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	153					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.459G>T	CCDS4044.1																																																																																				0.403	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		7	53	1	0	3.86212e-05	0.008291	4.46834e-05	7	53				
JMY	133746	broad.mit.edu	37	5	78573766	78573766	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78573766G>T	ENST00000396137.4	+	2	1528	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	356					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.V356L(1)|p.V2L(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGAGAGCATGGTGGAGCTTCT	0.408																																							uc003kfx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1066-1068)GTG>TTG		junction-mediating and regulatory protein							96.0	93.0	94.0					5																	78573766		1910	4122	6032	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78573766G>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1066G>T	5.37:g.78573766G>T	ENSP00000379441:p.Val356Leu					JMY_uc003kfw.1_Missense_Mutation_p.V2L	p.V356L	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	2	1586	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	356			Potential.		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.1066G>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	32	5.189780	0.94923	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07688	3.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.78456	2.415	0.80722	D	1	P	0.50710	0.938	P	0.52881	0.712	T	0.00787	-1.1566	10	0.54805	T	0.06	.	19.0949	0.93246	0.0:0.0:1.0:0.0	.	356	Q8N9B5	JMY_HUMAN	L	356	ENSP00000379441:V356L	ENSP00000282259:V356L	V	+	1	0	JMY	78609522	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.096000	0.94182	2.525000	0.85131	0.650000	0.86243	GTG		0.408	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		16	117	1	0	2.31682e-05	0.003163	2.70915e-05	16	117				
ACOT12	134526	broad.mit.edu	37	5	80655832	80655832	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:80655832A>G	ENST00000307624.3	-	5	414	c.386T>C	c.(385-387)cTa>cCa	p.L129P	ACOT12_ENST00000513751.1_Missense_Mutation_p.L129P	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	129					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.L129P(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTGTTCAGTTAGAAGTGTGAC	0.318																																							uc003khl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(385-387)CTA>CCA		acyl-CoA thioesterase 12							103.0	103.0	103.0					5																	80655832		2203	4298	6501	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80655832A>G	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.386T>C	5.37:g.80655832A>G	ENSP00000303246:p.Leu129Pro					RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.L129P	p.L129P	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	441	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	129					B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.386T>C	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	A	7.832	0.719985	0.15372	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.30182	1.54;1.54	5.04	2.38	0.29361	.	0.328502	0.25408	N	0.030895	T	0.27134	0.0665	L	0.59436	1.845	0.49389	D	0.999786	P;B	0.40553	0.721;0.228	B;B	0.39119	0.291;0.098	T	0.03259	-1.1055	10	0.30854	T	0.27	-33.1749	8.7234	0.34454	0.5573:0.0:0.0:0.4427	.	129;129	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	P	129	ENSP00000303246:L129P;ENSP00000421628:L129P	ENSP00000303246:L129P	L	-	2	0	ACOT12	80691588	0.960000	0.32886	0.495000	0.27527	0.075000	0.17131	0.937000	0.28951	0.831000	0.34780	0.533000	0.62120	CTA		0.318	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		13	72	0	0	0	0.004007	0	13	72				
VCAN	1462	broad.mit.edu	37	5	82816053	82816053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82816053C>T	ENST00000265077.3	+	7	2493	c.1928C>T	c.(1927-1929)aCa>aTa	p.T643I	VCAN_ENST00000512590.2_Missense_Mutation_p.T595I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T643I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	643	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T643I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTGTCTACTACACCTTTTCCA	0.363																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1927-1929)ACA>ATA		versican isoform 1 precursor							143.0	139.0	140.0					5																	82816053		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816053C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1928C>T	5.37:g.82816053C>T	ENSP00000265077:p.Thr643Ile					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T643I|VCAN_uc003kik.3_Intron	p.T643I	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2284	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	643			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1928C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927075	0.18056	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.20598	2.06;2.06;2.06	5.73	1.91	0.25777	.	0.579843	0.16505	N	0.211471	T	0.18045	0.0433	L	0.53249	1.67	0.09310	N	1	B;B	0.24721	0.11;0.067	B;B	0.18263	0.018;0.021	T	0.14699	-1.0463	10	0.41790	T	0.15	.	7.6021	0.28081	0.0:0.6671:0.0:0.3329	.	643;643	P13611-3;P13611	.;CSPG2_HUMAN	I	643;643;595	ENSP00000265077:T643I;ENSP00000342768:T643I;ENSP00000425959:T595I	ENSP00000265077:T643I	T	+	2	0	VCAN	82851809	0.000000	0.05858	0.021000	0.16686	0.838000	0.47535	0.157000	0.16402	0.743000	0.32719	0.655000	0.94253	ACA		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	141	0	0	0	0.00245	0	13	141				
VCAN	1462	broad.mit.edu	37	5	82816423	82816423	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82816423G>A	ENST00000265077.3	+	7	2863	c.2298G>A	c.(2296-2298)atG>atA	p.M766I	VCAN_ENST00000512590.2_Missense_Mutation_p.M718I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.M766I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	766	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.M766I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAAGAGATATGGAGGAAGACT	0.383																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2296-2298)ATG>ATA		versican isoform 1 precursor							65.0	64.0	64.0					5																	82816423		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816423G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2298G>A	5.37:g.82816423G>A	ENSP00000265077:p.Met766Ile					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.M766I|VCAN_uc003kik.3_Intron	p.M766I	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2654	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	766			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2298G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	6.824	0.521105	0.13005	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.16196	2.36;2.36;2.36	4.26	-1.2	0.09554	.	1.631570	0.03554	N	0.225996	T	0.06462	0.0166	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28902	-1.0029	10	0.18276	T	0.48	.	0.4487	0.00497	0.2132:0.1623:0.2927:0.3318	.	766;766	P13611-3;P13611	.;CSPG2_HUMAN	I	766;766;718	ENSP00000265077:M766I;ENSP00000342768:M766I;ENSP00000425959:M718I	ENSP00000265077:M766I	M	+	3	0	VCAN	82852179	0.000000	0.05858	0.245000	0.24217	0.027000	0.11550	-0.515000	0.06290	0.263000	0.21812	0.467000	0.42956	ATG		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		7	77	0	0	0	0.00308	0	7	77				
VCAN	1462	broad.mit.edu	37	5	82832966	82832966	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82832966G>C	ENST00000265077.3	+	8	4709	c.4144G>C	c.(4144-4146)Gac>Cac	p.D1382H	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D395H|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D1382H(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATTGAAATAGACCTATACCA	0.383																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4144-4146)GAC>CAC		versican isoform 1 precursor							59.0	61.0	60.0					5																	82832966		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82832966G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4144G>C	5.37:g.82832966G>C	ENSP00000265077:p.Asp1382His					VCAN_uc003kij.3_Missense_Mutation_p.D395H|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D46H	p.D1382H	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4500	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1382			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4144G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	5.995	0.367463	0.11352	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86230	-2.09;-2.01;3.13	5.96	1.99	0.26369	.	1.269630	0.05200	N	0.504660	D	0.84252	0.5431	L	0.34521	1.04	0.09310	N	1	P;B	0.36315	0.547;0.412	P;B	0.46479	0.518;0.319	T	0.71948	-0.4438	10	0.54805	T	0.06	.	1.679	0.02827	0.2307:0.1001:0.4551:0.2141	.	395;1382	P13611-2;P13611	.;CSPG2_HUMAN	H	1382;395;395	ENSP00000265077:D1382H;ENSP00000340062:D395H;ENSP00000426251:D395H	ENSP00000265077:D1382H	D	+	1	0	VCAN	82868722	0.396000	0.25262	0.005000	0.12908	0.065000	0.16274	0.682000	0.25335	0.357000	0.24183	-0.355000	0.07637	GAC		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	45	0	0	0	0.001368	0	13	45				
VCAN	1462	broad.mit.edu	37	5	82837427	82837427	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82837427C>G	ENST00000265077.3	+	8	9170	c.8605C>G	c.(8605-8607)Cat>Gat	p.H2869D	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.H1882D|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2869	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.H2869D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAAGGAAATTCATGTAAATAT	0.448																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8605-8607)CAT>GAT		versican isoform 1 precursor							77.0	82.0	80.0					5																	82837427		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837427C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8605C>G	5.37:g.82837427C>G	ENSP00000265077:p.His2869Asp					VCAN_uc003kij.3_Missense_Mutation_p.H1882D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H1533D	p.H2869D	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8961	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2869			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8605C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089509	0.36855	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.84730	-1.86;-1.89	5.93	-1.26	0.09376	.	1.109520	0.06750	N	0.779927	T	0.72795	0.3505	L	0.29908	0.895	0.09310	N	1	B;P	0.34462	0.418;0.454	B;B	0.28139	0.086;0.057	T	0.59663	-0.7412	10	0.39692	T	0.17	.	6.023	0.19640	0.1821:0.4246:0.0:0.3934	.	1882;2869	P13611-2;P13611	.;CSPG2_HUMAN	D	2869;1882	ENSP00000265077:H2869D;ENSP00000340062:H1882D	ENSP00000265077:H2869D	H	+	1	0	VCAN	82873183	0.016000	0.18221	0.000000	0.03702	0.087000	0.18053	0.262000	0.18460	-0.101000	0.12219	-0.768000	0.03414	CAT		0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	115	0	0	0	0.00308	0	8	115				
HAPLN1	1404	broad.mit.edu	37	5	82937365	82937365	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82937365C>A	ENST00000274341.4	-	5	1865	c.1015G>T	c.(1015-1017)Gat>Tat	p.D339Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.D339Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TGCTTTTTATCTGGGAAACCC	0.512																																							uc003kim.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(1015-1017)GAT>TAT		hyaluronan and proteoglycan link protein 1							130.0	139.0	136.0					5																	82937365		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937365C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1015G>T	5.37:g.82937365C>A	ENSP00000274341:p.Asp339Tyr					HAPLN1_uc003kin.2_Missense_Mutation_p.D339Y	p.D339Y	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1086	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	339			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.1015G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731421	0.69189	.	.	ENSG00000145681	ENST00000274341	T	0.30448	1.53	5.22	5.22	0.72569	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.77486	2.375	0.80722	D	1	P	0.41546	0.754	P	0.49799	0.622	T	0.45673	-0.9245	10	0.37606	T	0.19	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	339	P10915	HPLN1_HUMAN	Y	339	ENSP00000274341:D339Y	ENSP00000274341:D339Y	D	-	1	0	HAPLN1	82973121	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.833000	0.69349	2.581000	0.87130	0.655000	0.94253	GAT		0.512	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		13	267	1	0	4.3838e-07	0.001855	5.56242e-07	13	267				
HAPLN1	1404	broad.mit.edu	37	5	82937398	82937398	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82937398T>C	ENST00000274341.4	-	5	1832	c.982A>G	c.(982-984)Act>Gct	p.T328A		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	328	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.T328A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCAGCCTCAGTAGGACTGCAG	0.547																																							uc003kim.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(982-984)ACT>GCT		hyaluronan and proteoglycan link protein 1							110.0	117.0	115.0					5																	82937398		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937398T>C		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.982A>G	5.37:g.82937398T>C	ENSP00000274341:p.Thr328Ala					HAPLN1_uc003kin.2_Missense_Mutation_p.T328A	p.T328A	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1053	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	328			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.982A>G	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	2.849	-0.238814	0.05944	.	.	ENSG00000145681	ENST00000274341	T	0.07800	3.16	5.22	5.22	0.72569	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.191292	0.56097	D	0.000039	T	0.06826	0.0174	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.22068	-1.0227	10	0.09084	T	0.74	.	15.4173	0.74980	0.0:0.0:0.0:1.0	.	328	P10915	HPLN1_HUMAN	A	328	ENSP00000274341:T328A	ENSP00000274341:T328A	T	-	1	0	HAPLN1	82973154	0.035000	0.19736	0.029000	0.17559	0.141000	0.21300	2.314000	0.43743	2.088000	0.63022	0.533000	0.62120	ACT		0.547	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		46	182	0	0	0	0.00361	0	46	182				
HAPLN1	1404	broad.mit.edu	37	5	82948412	82948412	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82948412C>T	ENST00000274341.4	-	3	1182	c.332G>A	c.(331-333)aGa>aAa	p.R111K	HAPLN1_ENST00000514416.1_Missense_Mutation_p.R111K	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	111	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.R111K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAGAAACACTCTACCCTGGTA	0.443																																							uc003kim.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(331-333)AGA>AAA		hyaluronan and proteoglycan link protein 1							132.0	128.0	130.0					5																	82948412		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948412C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.332G>A	5.37:g.82948412C>T	ENSP00000274341:p.Arg111Lys					HAPLN1_uc003kin.2_Missense_Mutation_p.R111K	p.R111K	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	403	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	111			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.332G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527563	0.96431	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	6.16	6.16	0.99307	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89250	0.3590	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	111	P10915	HPLN1_HUMAN	K	111;111;111;110;111;111;111	ENSP00000274341:R111K;ENSP00000422592:R111K;ENSP00000421341:R111K;ENSP00000426610:R110K;ENSP00000422522:R111K;ENSP00000421726:R111K;ENSP00000423836:R111K	ENSP00000274341:R111K	R	-	2	0	HAPLN1	82984168	1.000000	0.71417	0.978000	0.43139	0.908000	0.53690	7.452000	0.80683	2.937000	0.99478	0.650000	0.86243	AGA		0.443	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		17	96	0	0	0	0.00499	0	17	96				
TMEM161B	153396	broad.mit.edu	37	5	87494826	87494826	+	Silent	SNP	C	C	T	rs200425900	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:87494826C>T	ENST00000296595.6	-	10	1180	c.1056G>A	c.(1054-1056)gcG>gcA	p.A352A	TMEM161B_ENST00000514135.1_Silent_p.A352A|TMEM161B_ENST00000512429.1_Silent_p.A341A|TMEM161B_ENST00000506536.1_Silent_p.A170A|TMEM161B_ENST00000511218.1_Silent_p.A143A|TMEM161B_ENST00000515293.1_5'Flank	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral component of membrane (GO:0016021)		p.A352A(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTATTCGCCCCGCTTCTTTCT	0.383													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17775	0.0		0.0	False		,,,				2504	0.001						uc003kjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1054-1056)GCG>GCA		transmembrane protein 161B							53.0	53.0	53.0					5																	87494826		2203	4299	6502	SO:0001819	synonymous_variant	153396					integral to membrane		g.chr5:87494826C>T	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1056G>A	5.37:g.87494826C>T						TMEM161B_uc011cty.1_Silent_p.A341A|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Silent_p.A143A	p.A352A	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	10	1181	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	352					Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	37	c.1056G>A	CCDS4065.1																																																																																				0.383	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		4	48	0	0	0	0.009096	0	4	48				
GPR98	84059	broad.mit.edu	37	5	90012412	90012412	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:90012412C>A	ENST00000405460.2	+	43	9409	c.9313C>A	c.(9313-9315)Cgg>Agg	p.R3105R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3105	Calx-beta 22. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R3105R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTACATTGTTCGGGAACCTGC	0.438																																							uc003kju.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9313-9315)CGG>AGG		G protein-coupled receptor 98 precursor							92.0	85.0	87.0					5																	90012412		1866	4103	5969	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90012412C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9313C>A	5.37:g.90012412C>A						GPR98_uc003kjt.2_Silent_p.R811R|GPR98_uc003kjv.2_Silent_p.R705R	p.R3105R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	43	9409	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3105			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.9313C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	5.183	0.219245	0.09863	.	.	ENSG00000164199	ENST00000509621	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	T	0.65780	0.2724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62397	-0.6863	4	.	.	.	.	13.3987	0.60870	0.2573:0.7427:0.0:0.0	.	.	.	.	L	670	.	.	F	+	3	2	GPR98	90048168	1.000000	0.71417	0.997000	0.53966	0.461000	0.32589	3.575000	0.53870	2.861000	0.98227	0.650000	0.86243	TTC		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		12	36	1	0	1.61879e-10	0.001368	2.37214e-10	12	36				
MCTP1	79772	broad.mit.edu	37	5	94248658	94248658	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:94248658T>A	ENST00000515393.1	-	9	1373	c.1374A>T	c.(1372-1374)ctA>ctT	p.L458L	MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000312216.8_Silent_p.L237L|MCTP1_ENST00000505208.1_Silent_p.L237L|MCTP1_ENST00000429576.2_Silent_p.L191L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	458	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L458L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTAGGTCTGATAGGCGTAAAC	0.428																																							uc003kkx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1372-1374)CTA>CTT		multiple C2 domains, transmembrane 1 isoform L							197.0	186.0	190.0					5																	94248658		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248658T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1374A>T	5.37:g.94248658T>A						MCTP1_uc003kkv.2_Silent_p.L237L|MCTP1_uc003kkw.2_Silent_p.L191L|MCTP1_uc003kkz.2_Silent_p.L119L|MCTP1_uc003kku.2_5'UTR	p.L458L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1374	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	458			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1374A>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	9.773	1.173261	0.21704	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.91	2.88	0.33553	.	.	.	.	.	T	0.59676	0.2211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55392	-0.8148	4	.	.	.	-9.3601	10.3917	0.44175	0.0:0.6756:0.1794:0.145	.	.	.	.	F	221	.	.	I	-	1	0	MCTP1	94274414	0.144000	0.22641	1.000000	0.80357	0.943000	0.58893	-0.504000	0.06375	0.761000	0.33130	-0.248000	0.11899	ATC		0.428	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		21	254	0	0	0	0.003954	0	21	254				
PAM	5066	broad.mit.edu	37	5	102361025	102361025	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:102361025A>C	ENST00000438793.3	+	23	3146	c.2676A>C	c.(2674-2676)tcA>tcC	p.S892S	PAM_ENST00000346918.2_Intron|PAM_ENST00000379787.4_Silent_p.S272S|PAM_ENST00000455264.2_Intron|PAM_ENST00000348126.2_Silent_p.S785S|PAM_ENST00000274392.9_Silent_p.S794S|PAM_ENST00000304400.7_Silent_p.S892S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	892					central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.S892S(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGAAAAAATCAAGGGCCTTTG	0.468																																							uc003knw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2674-2676)TCA>TCC		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						74.0	84.0	81.0					5																	102361025		2202	4300	6502	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102361025A>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2676A>C	5.37:g.102361025A>C						PAM_uc003kns.2_Silent_p.S785S|PAM_uc003knt.2_Silent_p.S892S|PAM_uc003knu.2_Intron|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Silent_p.S794S|PAM_uc003knz.2_Silent_p.S132S	p.S892S	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	23	3049	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	892			Cytoplasmic (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.2676A>C	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	A	9.221	1.033336	0.19590	.	.	ENSG00000145730	ENST00000504691	.	.	.	5.79	4.57	0.56435	.	.	.	.	.	T	0.62950	0.2470	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61486	-0.7053	4	.	.	.	.	11.6347	0.51196	0.7277:0.2723:0.0:0.0	.	.	.	.	P	187	.	.	Q	+	2	0	PAM	102388924	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.490000	0.45294	2.221000	0.72209	0.529000	0.55759	CAA		0.468	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		11	101	0	0	0	0.000978	0	11	101				
APC	324	broad.mit.edu	37	5	112175975	112175975	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:112175975G>A	ENST00000457016.1	+	16	5064	c.4684G>A	c.(4684-4686)Gac>Aac	p.D1562N	APC_ENST00000508376.2_Missense_Mutation_p.D1562N|APC_ENST00000257430.4_Missense_Mutation_p.D1562N|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1562	Asp/Glu-rich (acidic).|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1562N(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTGAAAAGGACCTATTAGA	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	lung(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4684-4686)GAC>AAC		adenomatous polyposis coli							86.0	93.0	91.0					5																	112175975		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175975G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4684G>A	5.37:g.112175975G>A	ENSP00000413133:p.Asp1562Asn	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.D1544N|APC_uc003kpz.3_Missense_Mutation_p.D1562N|APC_uc003kpy.3_Missense_Mutation_p.D1562N|APC_uc010jbz.2_Missense_Mutation_p.D1279N|APC_uc010jca.2_Missense_Mutation_p.D862N	p.D1562N	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5064	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1562			Ser-rich.|Asp/Glu-rich (acidic).		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4684G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505774	0.64410	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88975	-2.45;-2.45;-2.45	6.16	6.16	0.99307	.	0.099900	0.64402	D	0.000002	D	0.93890	0.8045	M	0.62723	1.935	0.58432	D	0.99999	D;D	0.69078	0.997;0.993	D;D	0.77004	0.989;0.984	D	0.92066	0.5660	9	.	.	.	-21.6916	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1564;1562	Q4LE70;P25054	.;APC_HUMAN	N	1562	ENSP00000413133:D1562N;ENSP00000257430:D1562N;ENSP00000427089:D1562N	.	D	+	1	0	APC	112203874	1.000000	0.71417	0.962000	0.40283	0.817000	0.46193	7.550000	0.82173	2.937000	0.99478	0.650000	0.86243	GAC		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		15	86	0	0	0	0.00245	0	15	86				
CEP120	153241	broad.mit.edu	37	5	122734967	122734967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:122734967G>C	ENST00000306467.5	-	5	779	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	CEP120_ENST00000328236.5_Missense_Mutation_p.L159V|CEP120_ENST00000395431.2_Missense_Mutation_p.L159V|CEP120_ENST00000306481.6_Missense_Mutation_p.L133V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	159					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L159V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCAGCCAGGATGGCAGGT	0.383																																							uc003ktk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CTG>GTG		coiled-coil domain containing 100							78.0	78.0	78.0					5																	122734967		1952	4151	6103	SO:0001583	missense	153241					centrosome		g.chr5:122734967G>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.475C>G	5.37:g.122734967G>C	ENSP00000303058:p.Leu159Val					CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_Missense_Mutation_p.L133V	p.L159V	NM_153223	NP_694955	Q8N960	CE120_HUMAN			6	557	-			159					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.475C>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	4.340	0.062550	0.08388	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.47177	2.17;2.17;2.17;0.85	5.22	0.0512	0.14296	.	0.175000	0.38548	N	0.001657	T	0.36826	0.0981	L	0.41961	1.31	0.09310	N	0.999999	B	0.25667	0.131	B	0.22152	0.038	T	0.33523	-0.9865	10	0.49607	T	0.09	-3.8258	12.081	0.53671	0.4044:0.0:0.5956:0.0	.	159	Q8N960	CE120_HUMAN	V	159;159;133;133;159	ENSP00000303058:L159V;ENSP00000327504:L159V;ENSP00000307419:L133V;ENSP00000421620:L133V	ENSP00000303058:L159V	L	-	1	2	CEP120	122762866	0.231000	0.23751	0.003000	0.11579	0.074000	0.17049	0.586000	0.23894	0.086000	0.17137	-0.140000	0.14226	CTG		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		15	44	0	0	0	0.010504	0	15	44				
SLC27A6	28965	broad.mit.edu	37	5	128302064	128302064	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:128302064C>T	ENST00000262462.4	+	1	1244	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	78					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D78D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATGAGGGAGACATCTACACCT	0.478																																							uc003kuy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)GAC>GAT		solute carrier family 27 (fatty acid							113.0	108.0	109.0					5																	128302064		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302064C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.234C>T	5.37:g.128302064C>T						SLC27A6_uc003kuz.2_Silent_p.D78D	p.D78D	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	630	+		all_cancers(142;0.0483)|Prostate(80;0.055)	78					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.234C>T	CCDS4145.1																																																																																				0.478	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	81	0	0	0	0.008871	0	19	81				
IL3	3562	broad.mit.edu	37	5	131398035	131398035	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:131398035G>T	ENST00000296870.2	+	3	413	c.235G>T	c.(235-237)Gca>Tca	p.A79S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	79					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.A79S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAACCTGGAGGCATTCAACAG	0.483																																							uc003kwe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(235-237)GCA>TCA		interleukin 3 precursor	Amlexanox(DB01025)						195.0	200.0	198.0					5																	131398035		2203	4300	6503	SO:0001583	missense	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131398035G>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.235G>T	5.37:g.131398035G>T	ENSP00000296870:p.Ala79Ser						p.A79S	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	3	288	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	79					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.235G>T	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890412	0.52014	.	.	ENSG00000164399	ENST00000296870	T	0.31769	1.48	4.55	-0.527	0.11909	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.439160	0.04269	N	0.341750	T	0.35682	0.0940	L	0.55481	1.735	0.09310	N	1	B	0.33919	0.432	P	0.45428	0.48	T	0.38564	-0.9655	10	0.54805	T	0.06	0.2375	1.1099	0.01702	0.2676:0.1523:0.4238:0.1564	.	79	P08700	IL3_HUMAN	S	79	ENSP00000296870:A79S	ENSP00000296870:A79S	A	+	1	0	IL3	131425934	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.174000	0.16743	-0.110000	0.12022	-0.181000	0.13052	GCA		0.483	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		25	284	1	0	7.92952e-12	0.003954	1.20878e-11	25	284				
PITX1	5307	broad.mit.edu	37	5	134366998	134366998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:134366998C>T	ENST00000265340.7	-	2	786	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	CTC-349C3.1_ENST00000432382.3_5'Flank|PITX1_ENST00000506438.1_Missense_Mutation_p.V124M	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	124					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.V124M(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTGGTCCACACGGCGATCTCC	0.672																																							uc010jea.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)GTG>ATG		paired-like homeodomain transcription factor 1							92.0	80.0	84.0					5																	134366998		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134366998C>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.370G>A	5.37:g.134366998C>T	ENSP00000265340:p.Val124Met					uc003laj.1_5'Flank|PITX1_uc011cxy.1_Missense_Mutation_p.V124M	p.V124M	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	763	-			124			Homeobox.		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.370G>A	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585021	0.86748	.	.	ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253	D;D;D	0.96104	-3.91;-3.91;-3.91	4.39	4.39	0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	N	0.10685	0.025	0.80722	D	1	P	0.52577	0.954	P	0.51516	0.672	D	0.90712	0.4628	10	0.20046	T	0.44	.	17.3262	0.87248	0.0:1.0:0.0:0.0	.	124	P78337	PITX1_HUMAN	M	124	ENSP00000265340:V124M;ENSP00000427542:V124M;ENSP00000422908:V124M	ENSP00000265340:V124M	V	-	1	0	PITX1	134394897	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	5.901000	0.69861	2.162000	0.67917	0.563000	0.77884	GTG		0.672	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			6	43	0	0	0	0.004482	0	6	43				
ANKHD1	54882	broad.mit.edu	37	5	139889656	139889656	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:139889656G>T	ENST00000360839.2	+	22	4148	c.3994G>T	c.(3994-3996)Gca>Tca	p.A1332S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.A1332S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A1332S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1332						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.A1332T(2)|p.A1332S(2)|p.A543T(1)|p.A543S(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGGCTGGCATCCAATGG	0.453																																							uc003lfs.1		NA																	6	Substitution - Missense(6)		lung(3)|kidney(3)	ovary(6)	6						c.(3994-3996)GCA>TCA		ANKHD1-EIF4EBP3 protein							146.0	136.0	140.0					5																	139889656		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139889656G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3994G>T	5.37:g.139889656G>T	ENSP00000354085:p.Ala1332Ser					ANKHD1_uc003lfq.1_Missense_Mutation_p.A1351S|ANKHD1_uc003lfr.2_Missense_Mutation_p.A1332S|ANKHD1_uc003lft.1_Missense_Mutation_p.A543S|ANKHD1_uc003lfu.1_Missense_Mutation_p.A812S|ANKHD1_uc003lfv.1_Missense_Mutation_p.A409S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A71S|ANKHD1_uc003lfw.2_5'UTR	p.A1332S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4118	+			1332					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3994G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.583760|5.583760	0.96578|0.96578	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42;-1.42|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83454|0.83454	0.5258|0.5258	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.989;1.0;1.0;0.999;0.999|.	D;D;D;D;D|.	0.91635|.	0.955;0.999;0.996;0.996;0.996|.	D|D	0.84361|0.84361	0.0538|0.0538	10|5	0.87932|.	D|.	0|.	.|.	19.8369|19.8369	0.96660|0.96660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	543;1332;1351;1332;1332|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	S|C	1332;1365;1332;1332;866;543;1351;485;1332|557	ENSP00000354085:A1332S;ENSP00000297183:A1332S;ENSP00000394489:A1351S;ENSP00000405602:A485S;ENSP00000432016:A1332S|.	ENSP00000432016:A1332S|.	A|W	+|+	1|3	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139869840|139869840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.767000|2.767000	0.95098|0.95098	0.591000|0.591000	0.81541|0.81541	GCA|TGG		0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		15	90	1	0	7.93312e-07	0.00245	9.92523e-07	15	90				
IK	3550	broad.mit.edu	37	5	140041211	140041211	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140041211A>G	ENST00000417647.2	+	17	1559	c.1420A>G	c.(1420-1422)Aag>Gag	p.K474E		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	474					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.K474E(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGTAACAAGAAGGGGCC	0.483																																							uc003lgq.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1420-1422)AAG>GAG		RED protein							45.0	43.0	43.0					5																	140041211		1880	4107	5987	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140041211A>G	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1420A>G	5.37:g.140041211A>G	ENSP00000396301:p.Lys474Glu						p.K474E	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1530	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	474					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.1420A>G	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119925	0.94385	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.64997	1.995	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.77814	-0.2448	9	0.62326	D	0.03	.	14.3064	0.66386	1.0:0.0:0.0:0.0	.	474	Q13123	RED_HUMAN	E	474	.	ENSP00000396301:K474E	K	+	1	0	IK	140021395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.202000	0.70862	0.533000	0.62120	AAG		0.483	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		3	7	0	0	0	0.009096	0	3	7				
PCDHA2	56146	broad.mit.edu	37	5	140175321	140175321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140175321G>T	ENST00000526136.1	+	1	772	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.G258W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G258W|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G258W(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGGCAAATGGGACCTTAGT	0.388																																							uc003lhd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(772-774)GGG>TGG		protocadherin alpha 2 isoform 1 precursor							112.0	111.0	111.0					5																	140175321		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175321G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.772G>T	5.37:g.140175321G>T	ENSP00000431748:p.Gly258Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.G258W|PCDHA2_uc011czy.1_Missense_Mutation_p.G258W	p.G258W	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	878	+			258			Cadherin 3.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.772G>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482980	0.44147	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.70399	-0.48;-0.48;-0.48	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	0.000000	0.39341	U	0.001385	D	0.89619	0.6767	H	0.98446	4.235	0.49915	D	0.999836	D;D;D	0.61697	0.99;0.986;0.99	D;D;D	0.64877	0.919;0.93;0.919	D	0.94063	0.7328	10	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	258;258;258	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	258	ENSP00000430584:G258W;ENSP00000367372:G258W;ENSP00000431748:G258W	ENSP00000367372:G258W	G	+	1	0	PCDHA2	140155505	1.000000	0.71417	0.064000	0.19789	0.194000	0.23727	6.472000	0.73567	2.238000	0.73509	0.650000	0.86243	GGG		0.388	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		18	236	1	0	3.99206e-14	0.007413	6.48215e-14	18	236				
PCDHA3	56145	broad.mit.edu	37	5	140182121	140182121	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140182121G>T	ENST00000522353.2	+	1	1339	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D447Y	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D447Y(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGGCCGACGTGAACGA	0.662																																							uc003lhf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(1339-1341)GAC>TAC		protocadherin alpha 3 isoform 1 precursor							98.0	99.0	98.0					5																	140182121		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182121G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1339G>T	5.37:g.140182121G>T	ENSP00000429808:p.Asp447Tyr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.D447Y	p.D447Y	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1339	+			447			Cadherin 4.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1339G>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.280413	0.80692	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	D;D	0.85258	-1.96;-1.96	4.75	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43919	U	0.000517	D	0.96185	0.8756	H	0.99582	4.64	0.48135	D	0.999594	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98525	1.0625	10	0.87932	D	0	.	18.1666	0.89729	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Y	447	ENSP00000429808:D447Y;ENSP00000434086:D447Y	ENSP00000429808:D447Y	D	+	1	0	PCDHA3	140162305	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.755000	0.98912	2.374000	0.81015	0.461000	0.40582	GAC		0.662	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		33	98	1	0	1.49673e-21	0.00623	2.73498e-21	33	98				
PCDHA8	56140	broad.mit.edu	37	5	140222067	140222067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140222067C>A	ENST00000531613.1	+	1	1161	c.1161C>A	c.(1159-1161)tgC>tgA	p.C387*	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.C387*|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.C387*(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGACCTGCTCCCTGATGC	0.562																																							uc003lhs.2		NA																	2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1159-1161)TGC>TGA		protocadherin alpha 8 isoform 1 precursor							186.0	173.0	177.0					5																	140222067		2203	4300	6503	SO:0001587	stop_gained	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222067C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1161C>A	5.37:g.140222067C>A	ENSP00000434655:p.Cys387*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Nonsense_Mutation_p.C387*	p.C387*	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1161	+			387			Cadherin 4.|Extracellular (Potential).		B9EGT7|O75281	Nonsense_Mutation	SNP	ENST00000531613.1	37	c.1161C>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056530	0.55325	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	.	.	.	3.57	1.67	0.24075	.	0.000000	0.40302	U	0.001140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1159	0.42589	0.0:0.8196:0.0:0.1804	.	.	.	.	X	387	.	ENSP00000367363:C387X	C	+	3	2	PCDHA8	140202251	0.000000	0.05858	0.643000	0.29450	0.115000	0.19883	-2.634000	0.00869	0.610000	0.30035	0.306000	0.20318	TGC		0.562	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		62	251	1	0	1.3268e-25	0.00361	2.49871e-25	62	251				
PCDHAC2	56134	broad.mit.edu	37	5	140347671	140347671	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140347671A>T	ENST00000289269.5	+	1	1852	c.1320A>T	c.(1318-1320)acA>acT	p.T440T	PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T440T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACGGTGACAGCCACAGATG	0.547																																					Melanoma(190;638 2083 3390 11909 52360)	Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1318-1320)ACA>ACT		protocadherin alpha subfamily C, 2 isoform 1							95.0	100.0	98.0					5																	140347671		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347671A>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1320A>T	5.37:g.140347671A>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.T440T	p.T440T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1560	+			440			Extracellular (Potential).|Cadherin 4.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1320A>T	CCDS4242.1																																																																																				0.547	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		44	117	0	0	0	0.00361	0	44	117				
PCDHB12	56124	broad.mit.edu	37	5	140590170	140590170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140590170C>A	ENST00000239450.2	+	1	1880	c.1691C>A	c.(1690-1692)cCg>cAg	p.P564Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P227Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	564					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P564L(1)|p.P564Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGTACCCGCTGCAGAAC	0.716																																							uc003liz.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)	3						c.(1690-1692)CCG>CAG		protocadherin beta 12 precursor							17.0	22.0	21.0					5																	140590170		2187	4270	6457	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590170C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1691C>A	5.37:g.140590170C>A	ENSP00000239450:p.Pro564Gln					PCDHB12_uc011dak.1_Missense_Mutation_p.P227Q	p.P564Q	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1880	+			564			Extracellular (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1691C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826258	0.71143	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.60920	0.15;0.15	3.4	3.4	0.38934	Cadherin-like (1);	.	.	.	.	T	0.78855	0.4349	M	0.88842	2.985	0.38567	D	0.949852	D	0.89917	1.0	D	0.97110	1.0	D	0.85623	0.1265	9	0.87932	D	0	.	14.8086	0.69977	0.0:1.0:0.0:0.0	.	564	Q9Y5F1	PCDBC_HUMAN	Q	227;564;184	ENSP00000440199:P227Q;ENSP00000239450:P564Q	ENSP00000239450:P564Q	P	+	2	0	PCDHB12	140570354	0.000000	0.05858	0.993000	0.49108	0.978000	0.69477	0.244000	0.18124	1.626000	0.50381	0.479000	0.44913	CCG		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		11	49	1	0	1.9806e-07	0.002299	2.57792e-07	11	49				
PCDHB15	56121	broad.mit.edu	37	5	140627195	140627195	+	Silent	SNP	C	C	A	rs547413472		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140627195C>A	ENST00000231173.3	+	1	2049	c.2049C>A	c.(2047-2049)gcC>gcA	p.A683A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	683					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A683A(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCCCAGGCCGACTCGCTTA	0.672																																							uc003lje.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(2047-2049)GCC>GCA		protocadherin beta 15 precursor							68.0	74.0	72.0					5																	140627195		2198	4288	6486	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627195C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2049C>A	5.37:g.140627195C>A							p.A683A	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2049	+			683			Extracellular (Potential).		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2049C>A	CCDS4257.1																																																																																				0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		17	129	1	0	1.10513e-12	0.002299	1.73992e-12	17	129				
PCDHGA2	56113	broad.mit.edu	37	5	140720200	140720200	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140720200C>G	ENST00000394576.2	+	1	1662	c.1662C>G	c.(1660-1662)gaC>gaG	p.D554E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D554E(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACCAGAACGACA	0.607																																							uc003ljk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1660-1662)GAC>GAG		protocadherin gamma subfamily A, 2 isoform 1							164.0	163.0	163.0					5																	140720200		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720200C>G	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1662C>G	5.37:g.140720200C>G	ENSP00000378077:p.Asp554Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D554E	p.D554E	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1847	+			554			Extracellular (Potential).|Cadherin 5.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1662C>G	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.74	1.727473	0.30593	.	.	ENSG00000081853	ENST00000394576	T	0.03301	3.98	5.02	1.2	0.21068	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43110	U	0.000603	T	0.25457	0.0619	H	0.97707	4.06	0.23563	N	0.997402	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.12682	-1.0538	10	0.87932	D	0	.	9.2734	0.37686	0.0:0.5411:0.0:0.4589	.	554;554	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	E	554	ENSP00000378077:D554E	ENSP00000378077:D554E	D	+	3	2	PCDHGA2	140700384	0.009000	0.17119	0.936000	0.37596	0.005000	0.04900	0.143000	0.16115	0.267000	0.21916	-0.225000	0.12378	GAC		0.607	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		20	276	0	0	0	0.001882	0	20	276				
PCDHGA4	56111	broad.mit.edu	37	5	140737049	140737049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140737049C>A	ENST00000571252.1	+	1	2282	c.2282C>A	c.(2281-2283)gCg>gAg	p.A761E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	761					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			TCCCTCACCGCGGACTCGCGG	0.592																																							uc003ljq.1		NA																	0					0						c.(2281-2283)GCG>GAG		protocadherin gamma subfamily A, 4 isoform 1							84.0	89.0	88.0					5																	140737049		2203	4300	6503	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140737049C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2282C>A	5.37:g.140737049C>A	ENSP00000458570:p.Ala761Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.A761E|PCDHGB2_uc011dar.1_5'Flank	p.A761E	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2282	+			761			Cytoplasmic (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2282C>A	CCDS58979.1																																																																																				0.592	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		24	104	1	0	2.36697e-06	0.007291	2.90231e-06	24	104				
PCDHGB2	56103	broad.mit.edu	37	5	140740131	140740131	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140740131C>G	ENST00000522605.1	+	1	429	c.429C>G	c.(427-429)ggC>ggG	p.G143G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	143	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.G143G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTGGCGAATCCACTA	0.373																																							uc003ljs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)GGC>GGG		protocadherin gamma subfamily B, 2 isoform 1							55.0	55.0	55.0					5																	140740131		1830	4076	5906	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740131C>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.429C>G	5.37:g.140740131C>G						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_uc011dar.1_Silent_p.G143G	p.G143G	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	429	+			143			Extracellular (Potential).|Cadherin 2.		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.429C>G	CCDS54924.1																																																																																				0.373	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		17	80	0	0	0	0.007413	0	17	80				
PCDHGA6	56109	broad.mit.edu	37	5	140753939	140753939	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140753939G>T	ENST00000517434.1	+	1	289	c.289G>T	c.(289-291)Gct>Tct	p.A97S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A97S(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTCTGTGCTCAGAGCCC	0.512																																							uc003ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(289-291)GCT>TCT		protocadherin gamma subfamily A, 6 isoform 1							49.0	56.0	53.0					5																	140753939		2175	4292	6467	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140753939G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.289G>T	5.37:g.140753939G>T	ENSP00000429601:p.Ala97Ser					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_uc011dau.1_Missense_Mutation_p.A97S	p.A97S	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+			97			Cadherin 1.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.289G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	14.04	2.417895	0.42918	.	.	ENSG00000253731	ENST00000517434	T	0.27402	1.67	5.13	3.23	0.37069	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.310821	0.16526	U	0.210586	T	0.37625	0.1010	M	0.71871	2.18	0.21950	N	0.999453	B;P	0.36712	0.264;0.566	B;B	0.42163	0.26;0.378	T	0.24977	-1.0145	10	0.51188	T	0.08	.	10.6308	0.45534	0.0717:0.0:0.7962:0.1321	.	97;97	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	97	ENSP00000429601:A97S	ENSP00000429601:A97S	A	+	1	0	PCDHGA6	140734123	0.000000	0.05858	0.993000	0.49108	0.694000	0.40290	0.514000	0.22786	1.524000	0.49035	0.655000	0.94253	GCT		0.512	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		19	82	1	0	2.94398e-08	0.007413	3.93064e-08	19	82				
ARAP3	64411	broad.mit.edu	37	5	141059632	141059632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:141059632G>A	ENST00000239440.4	-	2	487	c.422C>T	c.(421-423)tCc>tTc	p.S141F	ARAP3_ENST00000508305.1_Missense_Mutation_p.S63F	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	141					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S141F(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCAGAGGAGGAAGTGGGGAG	0.617																																							uc003llm.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(421-423)TCC>TTC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							112.0	138.0	129.0					5																	141059632		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059632G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.422C>T	5.37:g.141059632G>A	ENSP00000239440:p.Ser141Phe					ARAP3_uc003lln.2_Missense_Mutation_p.S63F|ARAP3_uc003llo.1_Missense_Mutation_p.S141F	p.S141F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			2	500	-			141					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.422C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	5.556	0.287451	0.10513	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.19806	2.44;3.15;2.12	4.3	3.41	0.39046	.	2.109970	0.02947	U	0.141203	T	0.11707	0.0285	N	0.19112	0.55	0.27624	N	0.948247	P;B	0.39157	0.662;0.0	B;B	0.28305	0.088;0.001	T	0.10132	-1.0643	10	0.09843	T	0.71	.	8.1852	0.31335	0.1139:0.0:0.8861:0.0	.	63;141	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	F	63;63;141;141	ENSP00000421826:S63F;ENSP00000239440:S141F;ENSP00000421148:S141F	ENSP00000239440:S141F	S	-	2	0	ARAP3	141039816	0.169000	0.23002	0.185000	0.23176	0.163000	0.22366	1.059000	0.30517	2.230000	0.72887	0.462000	0.41574	TCC		0.617	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		37	470	0	0	0	0.007835	0	37	470				
ARHGAP26	23092	broad.mit.edu	37	5	142273824	142273824	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:142273824G>C	ENST00000274498.4	+	6	886	c.508G>C	c.(508-510)Gtc>Ctc	p.V170L	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.V170L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	170					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.V170L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGGACCTGGTCCGGCAGCA	0.423																																							uc011dbj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)GTC>CTC		GTPase regulator associated with the focal							85.0	82.0	83.0					5																	142273824		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142273824G>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.508G>C	5.37:g.142273824G>C	ENSP00000274498:p.Val170Leu					ARHGAP26_uc003lmt.2_Missense_Mutation_p.V170L|ARHGAP26_uc003lmw.2_Missense_Mutation_p.V170L	p.V170L	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	543	+		all_hematologic(541;0.0416)	170					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.508G>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707089	0.48412	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000378013	T;T;T	0.28666	1.6;1.6;1.6	5.52	5.52	0.82312	IRSp53/MIM homology domain (IMD) (2);	0.058820	0.64402	D	0.000002	T	0.22475	0.0542	N	0.14661	0.345	0.51482	D	0.999926	B;B	0.20459	0.045;0.001	B;B	0.32022	0.139;0.004	T	0.06899	-1.0801	10	0.37606	T	0.19	.	12.7425	0.57261	0.0763:0.0:0.9237:0.0	.	170;170	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	L	170;170;142	ENSP00000274498:V170L;ENSP00000367243:V170L;ENSP00000367252:V142L	ENSP00000274498:V170L	V	+	1	0	ARHGAP26	142254008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.488000	0.60300	2.748000	0.94277	0.591000	0.81541	GTC		0.423	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		15	43	0	0	0	0.006122	0	15	43				
LARS	51520	broad.mit.edu	37	5	145499985	145499985	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:145499985T>A	ENST00000394434.2	-	31	3440	c.3274A>T	c.(3274-3276)Aac>Tac	p.N1092Y	LARS_ENST00000510191.1_Missense_Mutation_p.N1038Y|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.N1046Y|LARS_ENST00000274562.9_Missense_Mutation_p.N1065Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1092					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.N1092Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GAATCACAGTTATCTCCTTGC	0.413																																							uc003lnx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3274-3276)AAC>TAC		leucyl-tRNA synthetase	L-Leucine(DB00149)						144.0	139.0	141.0					5																	145499985		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145499985T>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3274A>T	5.37:g.145499985T>A	ENSP00000377954:p.Asn1092Tyr					LARS_uc003lnw.1_Missense_Mutation_p.N250Y|LARS_uc011dbq.1_Missense_Mutation_p.N1046Y|LARS_uc011dbr.1_Missense_Mutation_p.N1038Y|LARS_uc011dbs.1_Missense_Mutation_p.N1065Y	p.N1092Y	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		31	3512	-			1092					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.3274A>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611712	0.46631	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.32	4.16	0.48862	.	0.208139	0.64402	D	0.000018	T	0.47930	0.1472	N	0.25647	0.755	0.33529	D	0.59335	B;P;B	0.36315	0.001;0.547;0.0	B;B;B	0.37888	0.001;0.26;0.001	T	0.63198	-0.6691	10	0.54805	T	0.06	.	9.0431	0.36329	0.0:0.1412:0.0:0.8588	.	1065;1046;1092	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	Y	1092;1046;401;1038;1065	ENSP00000377954:N1092Y;ENSP00000437791:N1046Y;ENSP00000426005:N1038Y;ENSP00000274562:N1065Y	ENSP00000274562:N1065Y	N	-	1	0	LARS	145480178	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.334000	0.52097	2.137000	0.66172	0.528000	0.53228	AAC		0.413	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		34	103	0	0	0	0.002096	0	34	103				
PPP2R2B	5521	broad.mit.edu	37	5	146257616	146257616	+	Missense_Mutation	SNP	T	T	C	rs531695576		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:146257616T>C	ENST00000394413.3	-	1	589	c.19A>G	c.(19-21)Acc>Gcc	p.T7A	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T65A|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T7A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T7A|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T7A|PPP2R2B_ENST00000508545.2_Intron|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T73A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	7					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.T7A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTGCGGGTATCAATGTCC	0.597													T|||	1	0.000199681	0.0	0.0	5008	,	,		12154	0.0		0.0	False		,,,				2504	0.001						uc003loe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|prostate(1)	2						c.(19-21)ACC>GCC		beta isoform of regulatory subunit B55, protein							150.0	128.0	135.0					5																	146257616		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146257616T>C	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.19A>G	5.37:g.146257616T>C	ENSP00000377935:p.Thr7Ala					PPP2R2B_uc010jgm.2_Translation_Start_Site|PPP2R2B_uc003log.3_Missense_Mutation_p.T7A|PPP2R2B_uc003lof.3_Missense_Mutation_p.T7A|PPP2R2B_uc003loi.3_Intron|PPP2R2B_uc003loh.3_Missense_Mutation_p.T7A|PPP2R2B_uc003loj.3_Intron|PPP2R2B_uc003lok.3_Intron|PPP2R2B_uc011dbu.1_Intron|PPP2R2B_uc011dbv.1_Missense_Mutation_p.T65A	p.T7A	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	544	-			7					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.19A>G	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.976774	0.34848	.	.	ENSG00000156475	ENST00000394413;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394409	T;T;T;T;T;T	0.73152	-0.72;1.56;-0.72;-0.72;-0.72;1.56	4.4	4.4	0.53042	.	0.985066	0.08311	N	0.965398	T	0.53753	0.1816	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33266	-0.9875	10	0.37606	T	0.19	-3.3673	12.7481	0.57293	0.0:0.0:0.0:1.0	.	65;7	Q00005-4;Q00005	.;2ABB_HUMAN	A	7;73;7;7;7;65	ENSP00000377935:T7A;ENSP00000377936:T73A;ENSP00000377933:T7A;ENSP00000349283:T7A;ENSP00000398779:T7A;ENSP00000377931:T65A	ENSP00000349283:T7A	T	-	1	0	AC011357.1	146237809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.224000	0.58593	1.859000	0.53934	0.459000	0.35465	ACC		0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	83	0	0	0	0.00308	0	7	83				
AFAP1L1	134265	broad.mit.edu	37	5	148685935	148685935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:148685935C>A	ENST00000296721.4	+	6	601	c.503C>A	c.(502-504)gCa>gAa	p.A168E	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A168E|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	168						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A168E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACCCTGCAACCAGGGTG	0.572																																							uc003lqh.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(502-504)GCA>GAA		actin filament associated protein 1-like 1							60.0	49.0	53.0					5																	148685935		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148685935C>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.503C>A	5.37:g.148685935C>A	ENSP00000296721:p.Ala168Glu					AFAP1L1_uc003lqg.3_Missense_Mutation_p.A168E|AFAP1L1_uc010jgy.2_Missense_Mutation_p.A168E	p.A168E	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	634	+			168					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.503C>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589497	0.28357	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.32988	1.43;1.43	5.29	3.38	0.38709	.	0.685873	0.15018	N	0.285180	T	0.16128	0.0388	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29301	0.031;0.02;0.241	B;B;B	0.25140	0.047;0.01;0.058	T	0.05582	-1.0876	10	0.39692	T	0.17	-1.9244	3.0269	0.06094	0.0:0.4976:0.266:0.2364	.	168;168;168	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	E	168	ENSP00000296721:A168E;ENSP00000424427:A168E	ENSP00000296721:A168E	A	+	2	0	AFAP1L1	148666128	0.001000	0.12720	0.007000	0.13788	0.644000	0.38419	1.493000	0.35605	2.640000	0.89533	0.561000	0.74099	GCA		0.572	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		7	19	1	0	0.00307968	0.00308	0.00327966	7	19				
PDE6A	5145	broad.mit.edu	37	5	149264109	149264109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:149264109G>A	ENST00000255266.5	-	16	2079	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	654					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.Q654*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TGCTCATGCTGTCGACGATTG	0.423																																							uc003lrg.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1960-1962)CAG>TAG		phosphodiesterase 6A							103.0	101.0	102.0					5																	149264109		2203	4300	6503	SO:0001587	stop_gained	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264109G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1960C>T	5.37:g.149264109G>A	ENSP00000255266:p.Gln654*						p.Q654*	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		16	2080	-			654					Q0P638	Nonsense_Mutation	SNP	ENST00000255266.5	37	c.1960C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	40	8.474451	0.98827	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.72	5.72	0.89469	.	0.119463	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	654	.	ENSP00000255266:Q654X	Q	-	1	0	PDE6A	149244302	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	8.842000	0.92136	2.705000	0.92388	0.557000	0.71058	CAG		0.423	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			21	81	0	0	0	0.00278	0	21	81				
GRIA1	2890	broad.mit.edu	37	5	153182038	153182038	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:153182038C>T	ENST00000285900.5	+	15	2851	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	GRIA1_ENST00000521843.2_Silent_p.S767S|GRIA1_ENST00000518783.1_Silent_p.S846S|GRIA1_ENST00000448073.4_Silent_p.S846S|GRIA1_ENST00000340592.5_Silent_p.S836S|GRIA1_ENST00000518142.1_Silent_p.S756S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	836					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.S836S(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTAGTGAATCCAAGCGGATGA	0.527																																							uc003lva.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2506-2508)TCC>TCT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						236.0	218.0	224.0					5																	153182038		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153182038C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2508C>T	5.37:g.153182038C>T						GRIA1_uc003luy.3_Silent_p.S836S|GRIA1_uc003luz.3_Silent_p.S741S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.S756S|GRIA1_uc011dcx.1_Silent_p.S767S|GRIA1_uc011dcy.1_Silent_p.S846S|GRIA1_uc011dcz.1_Silent_p.S846S	p.S836S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		15	2873	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	836			Cytoplasmic (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2508C>T	CCDS4322.1																																																																																				0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			29	264	0	0	0	0.002836	0	29	264				
ADAM19	8728	broad.mit.edu	37	5	156991421	156991421	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:156991421C>G	ENST00000517905.1	-	3	255	c.211G>C	c.(211-213)Gct>Cct	p.A71P	AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.A71P|ADAM19_ENST00000394020.1_Missense_Mutation_p.A73P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	71					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A72P(1)|p.A71P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCCCCTCAGCCATTACCCTG	0.498																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(211-213)GCT>CCT		ADAM metallopeptidase domain 19 preproprotein							108.0	98.0	102.0					5																	156991421		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156991421C>G	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.211G>C	5.37:g.156991421C>G	ENSP00000428654:p.Ala71Pro					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.A2P	p.A71P	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	275	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	71					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.211G>C		.	.	.	.	.	.	.	.	.	.	C	26.5	4.739609	0.89573	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.09255	3.0;3.0;3.0	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000042	T	0.40322	0.1112	M	0.91038	3.17	0.44447	D	0.997371	D	0.89917	1.0	D	0.67548	0.952	T	0.46219	-0.9207	10	0.59425	D	0.04	.	14.9742	0.71257	0.0:1.0:0.0:0.0	.	71	Q9H013-2	.	P	71;73;71	ENSP00000257527:A71P;ENSP00000377588:A73P;ENSP00000428654:A71P	ENSP00000257527:A71P	A	-	1	0	ADAM19	156923999	0.323000	0.24643	0.984000	0.44739	0.991000	0.79684	4.021000	0.57196	2.595000	0.87683	0.655000	0.94253	GCT		0.498	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		16	80	0	0	0	0.008871	0	16	80				
CLINT1	9685	broad.mit.edu	37	5	157214823	157214823	+	Missense_Mutation	SNP	G	G	A	rs201922408	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:157214823G>A	ENST00000411809.2	-	12	1913	c.1709C>T	c.(1708-1710)cCg>cTg	p.P570L	CLINT1_ENST00000296951.5_Missense_Mutation_p.P570L|CLINT1_ENST00000530742.1_Missense_Mutation_p.P570L|CLINT1_ENST00000523094.1_Missense_Mutation_p.P570L|CLINT1_ENST00000523908.1_Missense_Mutation_p.P588L	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	570	Met-rich.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.P570L(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCATCATCGGAGTATTTCC	0.532													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17813	0.0		0.0	False		,,,				2504	0.0				Colon(22;427 587 2170 6147 14291)	Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1708-1710)CCG>CTG		epsin 4		G	LEU/PRO,LEU/PRO,LEU/PRO	2,4034		0,2,2016	114.0	108.0	110.0		1763,1709,1709	5.7	0.0	5		110	1,8389		0,1,4194	yes	missense,missense,missense	CLINT1	NM_001195555.1,NM_001195556.1,NM_014666.3	98,98,98	0,3,6210	AA,AG,GG		0.0119,0.0496,0.0241	benign,benign,benign	588/644,570/626,570/626	157214823	3,12423	2018	4195	6213	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157214823G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1709C>T	5.37:g.157214823G>A	ENSP00000388340:p.Pro570Leu					CLINT1_uc003lxg.1_Missense_Mutation_p.P107L|CLINT1_uc003lxh.1_Missense_Mutation_p.P144L|CLINT1_uc003lxi.1_Missense_Mutation_p.P570L|CLINT1_uc011ddv.1_Missense_Mutation_p.P588L	p.P570L	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1899	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	570			Met-rich.		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1709C>T	CCDS47330.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.291	1.050613	0.19827	4.96E-4	1.19E-4	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.67	5.67	0.87782	.	0.375219	0.32868	N	0.005545	T	0.40886	0.1135	L	0.58101	1.795	0.24373	N	0.994824	B;B	0.19817	0.002;0.039	B;B	0.15484	0.001;0.013	T	0.33497	-0.9866	10	0.62326	D	0.03	-25.9581	20.1358	0.98028	0.0:0.0:1.0:0.0	.	588;570	B7Z6F8;Q14677	.;EPN4_HUMAN	L	570;570;570;570;588	ENSP00000429345:P570L;ENSP00000433419:P570L;ENSP00000388340:P570L;ENSP00000296951:P570L;ENSP00000429824:P588L	ENSP00000296951:P570L	P	-	2	0	CLINT1	157147401	0.994000	0.37717	0.011000	0.14972	0.590000	0.36582	3.823000	0.55715	2.833000	0.97629	0.585000	0.79938	CCG		0.532	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		21	74	0	0	0	0.001882	0	21	74				
CLINT1	9685	broad.mit.edu	37	5	157233056	157233056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:157233056C>A	ENST00000411809.2	-	7	964	c.760G>T	c.(760-762)Gag>Tag	p.E254*	CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E236*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E236*|CLINT1_ENST00000523094.1_Nonsense_Mutation_p.E236*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E254*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	254					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.E236*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGTCTCCTCTTCATCTTTG	0.418																																					Colon(22;427 587 2170 6147 14291)	Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(760-762)GAG>TAG		epsin 4							200.0	196.0	197.0					5																	157233056		2078	4202	6280	SO:0001587	stop_gained	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157233056C>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.760G>T	5.37:g.157233056C>A	ENSP00000388340:p.Glu254*					CLINT1_uc003lxi.1_Nonsense_Mutation_p.E236*|CLINT1_uc011ddv.1_Nonsense_Mutation_p.E254*	p.E254*	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	950	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	254					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Nonsense_Mutation	SNP	ENST00000411809.2	37	c.760G>T	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	41	8.673814	0.98910	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.4249	19.6668	0.95895	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;254;236;254	.	ENSP00000296951:E236X	E	-	1	0	CLINT1	157165634	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.523000	0.81856	2.652000	0.90054	0.552000	0.68991	GAG		0.418	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		10	52	1	0	2.27111e-07	0.001368	2.92893e-07	10	52				
TTC1	7265	broad.mit.edu	37	5	159437824	159437824	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:159437824C>G	ENST00000231238.5	+	2	399	c.289C>G	c.(289-291)Cta>Gta	p.L97V	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Missense_Mutation_p.L97V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	97					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)	p.L97V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGAAGAATACCTAATAGAACT	0.388																																							uc003lxu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)CTA>GTA		tetratricopeptide repeat domain 1							47.0	50.0	49.0					5																	159437824		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437824C>G	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.289C>G	5.37:g.159437824C>G	ENSP00000231238:p.Leu97Val						p.L97V	NM_003314	NP_003305	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	339	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	97					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.289C>G	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516668	0.44763	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.19938	2.11;2.11	5.09	0.218	0.15270	.	0.000000	0.64402	D	0.000002	T	0.35682	0.0940	M	0.68952	2.095	0.09310	N	0.999998	D	0.64830	0.994	D	0.67231	0.95	T	0.07271	-1.0781	10	0.62326	D	0.03	-4.4806	7.3751	0.26823	0.0:0.5306:0.0:0.4694	.	97	Q99614	TTC1_HUMAN	V	97	ENSP00000231238:L97V;ENSP00000429225:L97V	ENSP00000231238:L97V	L	+	1	2	TTC1	159370402	0.432000	0.25554	0.045000	0.18777	0.983000	0.72400	-0.080000	0.11339	0.193000	0.20303	0.555000	0.69702	CTA		0.388	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		3	24	0	0	0	0.004672	0	3	24				
GABRB2	2561	broad.mit.edu	37	5	160763691	160763691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:160763691C>A	ENST00000393959.1	-	6	626	c.627G>T	c.(625-627)caG>caT	p.Q209H	GABRB2_ENST00000517901.1_Missense_Mutation_p.Q146H|GABRB2_ENST00000517547.1_Missense_Mutation_p.Q49H|GABRB2_ENST00000520240.1_Missense_Mutation_p.Q209H|GABRB2_ENST00000274547.2_Missense_Mutation_p.Q209H|GABRB2_ENST00000353437.6_Missense_Mutation_p.Q209H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.Q209H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|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)	CAATAGAGAACTGTGGAAGTT	0.363																																							uc003lys.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(625-627)CAG>CAT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						126.0	126.0	126.0					5																	160763691		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160763691C>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.627G>T	5.37:g.160763691C>A	ENSP00000377531:p.Gln209His					GABRB2_uc011deh.1_Missense_Mutation_p.Q48H|GABRB2_uc003lyr.1_Missense_Mutation_p.Q209H|GABRB2_uc003lyt.1_Missense_Mutation_p.Q209H|GABRB2_uc010jiu.1_Missense_Mutation_p.Q146H	p.Q209H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	845	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	209			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.627G>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690595	0.68271	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.47	-0.368	0.12537	Neurotransmitter-gated ion-channel ligand-binding (3);	0.108661	0.64402	D	0.000004	D	0.87935	0.6303	M	0.90922	3.16	0.80722	D	1	D;B;D;P	0.71674	0.998;0.392;0.971;0.914	D;P;P;P	0.83275	0.996;0.568;0.887;0.723	D	0.86552	0.1835	10	0.87932	D	0	.	9.7273	0.40339	0.0:0.5123:0.0:0.4877	.	49;146;209;209	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	209;209;209;209;146;49	ENSP00000377531:Q209H;ENSP00000274547:Q209H;ENSP00000274546:Q209H;ENSP00000429320:Q209H;ENSP00000430532:Q146H;ENSP00000429750:Q49H	ENSP00000274547:Q209H	Q	-	3	2	GABRB2	160696269	0.993000	0.37304	0.994000	0.49952	0.995000	0.86356	0.450000	0.21762	-0.159000	0.11021	-0.140000	0.14226	CAG		0.363	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			16	74	1	0	4.7546e-09	0.004007	6.5434e-09	16	74				
SPDL1	54908	broad.mit.edu	37	5	169015427	169015427	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:169015427G>C	ENST00000265295.4	+	2	286	c.7G>C	c.(7-9)Gca>Cca	p.A3P	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.A3P(1)									GAACATGGAGGCAGATATAAT	0.343																																							uc003mae.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(7-9)GCA>CCA		coiled-coil domain containing 99							51.0	53.0	52.0					5																	169015427		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169015427G>C	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.7G>C	5.37:g.169015427G>C	ENSP00000265295:p.Ala3Pro					CCDC99_uc010jjj.2_5'UTR|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR	p.A3P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	286	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	3			Potential.			Missense_Mutation	SNP	ENST00000265295.4	37	c.7G>C	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102961	0.20632	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.35605	1.3	5.41	-2.32	0.06745	.	0.627114	0.17746	N	0.163386	T	0.24547	0.0595	L	0.36672	1.1	0.09310	N	0.999992	P	0.40875	0.731	B	0.41894	0.369	T	0.14924	-1.0455	10	0.44086	T	0.13	-0.4759	6.1844	0.20490	0.2219:0.0:0.3517:0.4264	.	3	Q96EA4	SPDLY_HUMAN	P	3	ENSP00000265295:A3P	ENSP00000265295:A3P	A	+	1	0	CCDC99	168948005	0.935000	0.31712	0.563000	0.28383	0.072000	0.16883	0.058000	0.14301	-0.167000	0.10871	-0.777000	0.03380	GCA		0.343	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		5	39	0	0	0	0.001168	0	5	39				
FOXI1	2299	broad.mit.edu	37	5	169535124	169535124	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:169535124A>G	ENST00000306268.6	+	2	707	c.646A>G	c.(646-648)Agg>Ggg	p.R216G	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	216					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R216G(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCAGGAAAAGGAAGAGAAA	0.493									Pendred syndrome																														uc003mai.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(646-648)AGG>GGG		forkhead box I1 isoform a							74.0	73.0	74.0					5																	169535124		2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535124A>G	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.646A>G	5.37:g.169535124A>G	ENSP00000304286:p.Arg216Gly					FOXI1_uc003maj.3_Intron	p.R216G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	691	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	216			Fork-head.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.646A>G	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863003	0.51482	.	.	ENSG00000168269	ENST00000306268	D	0.95853	-3.83	4.91	2.25	0.28309	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.053759	0.64402	D	0.000001	D	0.97312	0.9121	M	0.91140	3.18	0.80722	D	1	D	0.56968	0.978	P	0.58266	0.836	D	0.97437	1.0019	10	0.66056	D	0.02	.	12.4603	0.55729	0.6654:0.3346:0.0:0.0	.	216	Q12951	FOXI1_HUMAN	G	216	ENSP00000304286:R216G	ENSP00000304286:R216G	R	+	1	2	FOXI1	169467702	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.404000	0.44539	1.849000	0.53698	0.374000	0.22700	AGG		0.493	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		12	96	0	0	0	0.001368	0	12	96				
KCNIP1	30820	broad.mit.edu	37	5	170145847	170145847	+	Silent	SNP	C	C	T	rs553548344		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:170145847C>T	ENST00000411494.1	+	3	180	c.180C>T	c.(178-180)acC>acT	p.T60T	KCNIP1_ENST00000520740.1_Silent_p.T21T|KCNIP1_ENST00000390656.4_Silent_p.T49T|KCNIP1_ENST00000434108.1_Silent_p.T49T|KCNIP1_ENST00000377360.4_Silent_p.T58T|KCNIP1_ENST00000328939.4_Silent_p.T49T			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	60	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.T58T(1)|p.T60T(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTTCACCAAGAGGGAGC	0.572																																							uc003mas.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(178-180)ACC>ACT		Kv channel interacting protein 1 isoform 1							64.0	61.0	62.0					5																	170145847		2203	4300	6503	SO:0001819	synonymous_variant	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170145847C>T	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.180C>T	5.37:g.170145847C>T						KCNIP1_uc003map.2_Silent_p.T58T|KCNIP1_uc003mat.2_Silent_p.T49T|KCNIP1_uc010jjp.2_Silent_p.T21T|KCNIP1_uc010jjq.2_Silent_p.T49T	p.T60T	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	709	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	60			EF-hand 1; degenerate.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	c.180C>T	CCDS34286.1																																																																																				0.572	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			5	58	0	0	0	0.001984	0	5	58				
STK10	6793	broad.mit.edu	37	5	171509466	171509466	+	Missense_Mutation	SNP	C	C	T	rs374049452		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:171509466C>T	ENST00000176763.5	-	12	2196	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	618					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R618H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTTGCTGACGCTCCAGGTT	0.547																																							uc003mbo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1852-1854)CGT>CAT		serine/threonine kinase 10		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	93.0	94.0		1853	4.2	1.0	5		94	0,8600		0,0,4300	no	missense	STK10	NM_005990.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	618/969	171509466	1,13005	2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171509466C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1853G>A	5.37:g.171509466C>T	ENSP00000176763:p.Arg618His						p.R618H	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	2153	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	618			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1853G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156959	0.78114	2.27E-4	0.0	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.38401	1.14	5.11	4.24	0.50183	.	0.148508	0.44483	D	0.000442	T	0.58764	0.2145	M	0.78049	2.395	0.41904	D	0.99043	D	0.89917	1.0	D	0.76071	0.987	T	0.63620	-0.6596	10	0.87932	D	0	.	11.3136	0.49379	0.0:0.9108:0.0:0.0892	.	618	O94804	STK10_HUMAN	H	618	ENSP00000176763:R618H	ENSP00000176763:R618H	R	-	2	0	STK10	171442071	0.995000	0.38212	0.990000	0.47175	0.908000	0.53690	2.986000	0.49370	1.149000	0.42402	0.655000	0.94253	CGT		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		29	131	0	0	0	0.007291	0	29	131				
SIMC1	375484	broad.mit.edu	37	5	175716848	175716848	+	Silent	SNP	G	G	C	rs138928707	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:175716848G>C	ENST00000443967.1	+	4	671	c.264G>C	c.(262-264)gcG>gcC	p.A88A	SIMC1_ENST00000429602.2_Silent_p.A107A|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000341199.6_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	88							SUMO polymer binding (GO:0032184)	p.A88A(1)									CTGGCAAAGCGGTGATGGAAG	0.488																																							uc003mds.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)GCG>GCC		RecName: Full=Uncharacterized protein C5orf25;							75.0	69.0	71.0					5																	175716848		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175716848G>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.264G>C	5.37:g.175716848G>C						C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Silent_p.A107A|uc003mdu.1_5'UTR	p.A88A			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	671	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	88					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.264G>C																																																																																					0.488	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		12	61	0	0	0	0.001855	0	12	61				
GPRIN1	114787	broad.mit.edu	37	5	176024932	176024932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:176024932C>A	ENST00000303991.4	-	2	2081	c.1904G>T	c.(1903-1905)gGt>gTt	p.G635V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	635					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.G635V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTTGCCACCAGACTGCGG	0.592																																							uc003meo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1903-1905)GGT>GTT		G protein-regulated inducer of neurite outgrowth							46.0	45.0	45.0					5																	176024932		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176024932C>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1904G>T	5.37:g.176024932C>A	ENSP00000305839:p.Gly635Val						p.G635V	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	2079	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	635					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1904G>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694471	0.30052	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08458	3.09	4.1	-3.16	0.05217	.	0.734180	0.11216	N	0.587203	T	0.06325	0.0163	L	0.50333	1.59	0.09310	N	0.999994	B	0.20780	0.048	B	0.21917	0.037	T	0.40887	-0.9539	10	0.27785	T	0.31	-0.7777	2.4283	0.04465	0.111:0.4087:0.2216:0.2587	.	635	Q7Z2K8	GRIN1_HUMAN	V	635	ENSP00000305839:G635V	ENSP00000305839:G635V	G	-	2	0	GPRIN1	175957538	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.752000	0.01819	-0.405000	0.07599	0.455000	0.32223	GGT		0.592	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		8	57	1	0	2.80697e-09	0.000978	3.89847e-09	8	57				
HK3	3101	broad.mit.edu	37	5	176315748	176315748	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:176315748T>A	ENST00000292432.5	-	9	1123	c.1032A>T	c.(1030-1032)caA>caT	p.Q344H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	344	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.Q344H(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATGCTGCCTTGGCTCAGCA	0.622																																							uc003mfa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1030-1032)CAA>CAT		hexokinase 3							80.0	79.0	80.0					5																	176315748		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176315748T>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1032A>T	5.37:g.176315748T>A	ENSP00000292432:p.Gln344His					HK3_uc003mez.2_Translation_Start_Site	p.Q344H	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1124	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	344			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1032A>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315252	0.23908	.	.	ENSG00000160883	ENST00000292432	D	0.98105	-4.72	5.32	-0.18	0.13295	Hexokinase, C-terminal (1);	1.515100	0.04129	N	0.317594	D	0.91112	0.7202	N	0.04297	-0.235	0.09310	N	0.999995	B	0.06786	0.001	B	0.10450	0.005	D	0.84239	0.0471	10	0.59425	D	0.04	.	0.2613	0.00219	0.3055:0.2528:0.1423:0.2995	.	344	P52790	HXK3_HUMAN	H	344	ENSP00000292432:Q344H	ENSP00000292432:Q344H	Q	-	3	2	HK3	176248354	0.001000	0.12720	0.042000	0.18584	0.457000	0.32468	-0.185000	0.09684	0.309000	0.22966	0.459000	0.35465	CAA		0.622	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			13	96	0	0	0	0.001855	0	13	96				
PROP1	5626	broad.mit.edu	37	5	177421183	177421183	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:177421183C>T	ENST00000308304.2	-	2	574	c.266G>A	c.(265-267)gGg>gAg	p.G89E		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	89					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G89E(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCTCCCAAAGGCTGA	0.657																																							uc003mif.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GGG>GAG		PROP paired-like homeobox 1							75.0	76.0	76.0					5																	177421183		2203	4300	6503	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421183C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.266G>A	5.37:g.177421183C>T	ENSP00000311290:p.Gly89Glu						p.G89E	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	575	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	89			Homeobox.			Missense_Mutation	SNP	ENST00000308304.2	37	c.266G>A	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.339934	0.60963	.	.	ENSG00000175325	ENST00000308304	D	0.95554	-3.74	3.42	1.51	0.23008	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.363325	0.20354	N	0.093998	D	0.84070	0.5391	N	0.00210	-1.845	0.41110	D	0.985732	D	0.64830	0.994	D	0.66979	0.948	T	0.80200	-0.1481	10	0.02654	T	1	-8.2384	3.5598	0.07878	0.0:0.5381:0.2153:0.2466	.	89	O75360	PROP1_HUMAN	E	89	ENSP00000311290:G89E	ENSP00000311290:G89E	G	-	2	0	PROP1	177353789	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.206000	0.09398	0.263000	0.21812	0.555000	0.69702	GGG		0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		25	185	0	0	0	0.00632	0	25	185				
ADAMTS2	9509	broad.mit.edu	37	5	178634575	178634575	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:178634575G>A	ENST00000251582.7	-	4	931	c.830C>T	c.(829-831)tCt>tTt	p.S277F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S277F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	277	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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.S277F(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)		CTGCACCACAGAGTCATCCAC	0.627																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(829-831)TCT>TTT		ADAM metallopeptidase with thrombospondin type 1							176.0	146.0	156.0					5																	178634575		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634575G>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.830C>T	5.37:g.178634575G>A	ENSP00000251582:p.Ser277Phe					ADAMTS2_uc011dgm.1_Missense_Mutation_p.S277F	p.S277F	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)	4	830	-	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)	277			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.830C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227832	0.79576	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.64260	-0.09;-0.09	5.69	5.69	0.88448	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.49916	D	0.000133	T	0.81735	0.4885	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.939;0.999	D	0.83416	0.0030	10	0.66056	D	0.02	.	18.7934	0.91983	0.0:0.0:1.0:0.0	.	277;277	O95450-2;O95450	.;ATS2_HUMAN	F	277	ENSP00000251582:S277F;ENSP00000274609:S277F	ENSP00000251582:S277F	S	-	2	0	ADAMTS2	178567181	1.000000	0.71417	0.844000	0.33320	0.443000	0.32047	9.618000	0.98365	2.688000	0.91661	0.561000	0.74099	TCT		0.627	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		34	197	0	0	0	0.004878	0	34	197				
MAPK9	5601	broad.mit.edu	37	5	179696296	179696296	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:179696296C>A	ENST00000452135.2	-	3	534	c.236G>T	c.(235-237)tGt>tTt	p.C79F	MAPK9_ENST00000425491.2_Missense_Mutation_p.C79F|MAPK9_ENST00000539014.1_Missense_Mutation_p.C79F|MAPK9_ENST00000393360.3_Missense_Mutation_p.C79F|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.C79F|MAPK9_ENST00000347470.4_Missense_Mutation_p.C79F|MAPK9_ENST00000343111.6_Missense_Mutation_p.C79F			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.C79F(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGATTGACACATTTTAAGAG	0.358																																							uc003mls.3		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(235-237)TGT>TTT		mitogen-activated protein kinase 9 isoform JNK2							117.0	108.0	111.0					5																	179696296		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179696296C>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.236G>T	5.37:g.179696296C>A	ENSP00000394560:p.Cys79Phe					MAPK9_uc003mlt.3_Missense_Mutation_p.C79F|MAPK9_uc010jlc.2_Missense_Mutation_p.C79F|MAPK9_uc003mlv.3_Missense_Mutation_p.C79F|MAPK9_uc011dgx.1_Missense_Mutation_p.C79F	p.C79F	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	507	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	79			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.236G>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477033	0.44044	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	N	0.11756	0.17	0.80722	D	1	P;P;P;P;P	0.51351	0.875;0.944;0.901;0.944;0.803	B;B;B;B;P	0.44623	0.246;0.333;0.246;0.424;0.455	T	0.49312	-0.8953	9	.	.	.	-18.3297	19.7686	0.96352	0.0:1.0:0.0:0.0	.	79;79;79;79;79	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	F	79	ENSP00000394560:C79F;ENSP00000377028:C79F;ENSP00000389338:C79F;ENSP00000345524:C79F;ENSP00000321410:C79F;ENSP00000397422:C79F;ENSP00000443149:C79F;ENSP00000430608:C79F	.	C	-	2	0	MAPK9	179628902	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.711000	0.84669	2.665000	0.90641	0.591000	0.81541	TGT		0.358	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			20	76	1	0	1.55795e-14	0.001882	2.5529e-14	20	76				
MGAT1	4245	broad.mit.edu	37	5	180219359	180219359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:180219359C>A	ENST00000446023.2	-	3	1363	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	MGAT1_ENST00000307826.4_Missense_Mutation_p.A205S|MGAT1_ENST00000333055.3_Missense_Mutation_p.A205S|MGAT1_ENST00000427865.2_Missense_Mutation_p.A205S|MGAT1_ENST00000393340.3_Missense_Mutation_p.A205S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.A205S(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACCACGGCCGCGGGGAAG	0.672																																							uc003mmg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)GCC>TCC		mannosyl (alpha-1,3-)-glycoprotein							29.0	35.0	33.0					5																	180219359		2198	4292	6490	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219359C>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.613G>T	5.37:g.180219359C>A	ENSP00000404718:p.Ala205Ser					MGAT1_uc010jlf.2_Missense_Mutation_p.A205S|MGAT1_uc010jlg.2_Missense_Mutation_p.A205S|MGAT1_uc003mmh.3_Missense_Mutation_p.A205S|MGAT1_uc010jlh.2_Missense_Mutation_p.A205S|MGAT1_uc003mmi.3_Missense_Mutation_p.A205S	p.A205S	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1108	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	205			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.613G>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912972	0.52439	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	5.56	3.75	0.43078	.	0.127281	0.52532	N	0.000068	D	0.87273	0.6136	M	0.70595	2.14	0.27972	N	0.936382	B	0.17852	0.024	B	0.41646	0.362	T	0.82366	-0.0493	10	0.72032	D	0.01	-6.1244	8.7083	0.34367	0.1515:0.7688:0.0:0.0797	.	205	P26572	MGAT1_HUMAN	S	205;205;205;205;62;205	ENSP00000332073:A205S;ENSP00000311888:A205S;ENSP00000404718:A205S;ENSP00000377010:A205S;ENSP00000402838:A205S	ENSP00000311888:A205S	A	-	1	0	MGAT1	180151965	0.976000	0.34144	0.050000	0.19076	0.558000	0.35554	5.406000	0.66357	0.799000	0.34018	0.655000	0.94253	GCC		0.672	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		19	65	1	0	2.4624e-09	0.008871	3.43201e-09	19	65				
MYLK4	340156	broad.mit.edu	37	6	2749382	2749382	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:2749382A>G	ENST00000274643.7	-	2	489	c.147T>C	c.(145-147)tcT>tcC	p.S49S	MYLK4_ENST00000268446.5_Silent_p.S49S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	49						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S49S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATTATGTCCAGATCTTGAAT	0.383																																							uc003mty.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)	4						c.(145-147)TCT>TCC		myosin light chain kinase family, member 4							131.0	135.0	134.0					6																	2749382		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2749382A>G		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.147T>C	6.37:g.2749382A>G							p.S49S	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			2	444	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	49					A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.147T>C	CCDS34330.1																																																																																				0.383	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		29	208	0	0	0	0.009535	0	29	208				
BMP6	654	broad.mit.edu	37	6	7727594	7727594	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:7727594A>T	ENST00000283147.6	+	1	565	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	136					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.M136L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCCCTCTTCATGCTGGATCT	0.711																																							uc003mxu.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(406-408)ATG>TTG		bone morphogenetic protein 6 preproprotein							14.0	15.0	15.0					6																	7727594		2195	4292	6487	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727594A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.406A>T	6.37:g.7727594A>T	ENSP00000283147:p.Met136Leu						p.M136L	NM_001718	NP_001709	P22004	BMP6_HUMAN			1	584	+	Ovarian(93;0.0721)		136					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.406A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039151	0.75617	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66460	-0.21	3.64	3.64	0.41730	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	L	0.49699	1.58	0.51233	D	0.999912	D	0.58620	0.983	D	0.64410	0.925	T	0.63247	-0.6680	10	0.29301	T	0.29	.	12.0668	0.53592	1.0:0.0:0.0:0.0	.	136	P22004	BMP6_HUMAN	L	58;136;99	ENSP00000283147:M136L	ENSP00000283147:M136L	M	+	1	0	BMP6	7672593	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.200000	0.89733	1.499000	0.48617	0.379000	0.24179	ATG		0.711	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	29	0	0	0	0.000602	0	3	29				
TXNDC5	81567	broad.mit.edu	37	6	7899820	7899820	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:7899820C>T	ENST00000379757.4	-	3	545	c.508G>A	c.(508-510)Gag>Aag	p.E170K	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.E62K|TXNDC5_ENST00000539054.1_Missense_Mutation_p.E98K	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	170	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.E170K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					ACTGGCTCCTCGTTCAGTGTC	0.552																																					Ovarian(119;1430 1625 3928 26125 34589)	Ovarian(119;1430 1625 3928 26125 34589)	uc003mxv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAG>AAG		thioredoxin domain containing 5 isoform 1							103.0	98.0	99.0					6																	7899820		2203	4300	6503	SO:0001583	missense	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7899820C>T	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.508G>A	6.37:g.7899820C>T	ENSP00000369081:p.Glu170Lys					TXNDC5_uc003mxw.2_Missense_Mutation_p.E127K|TXNDC5_uc010jnz.2_Missense_Mutation_p.E62K|TXNDC5_uc010joa.1_Missense_Mutation_p.E62K	p.E170K	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN			3	540	-	Ovarian(93;0.0398)		170			Thioredoxin 2.		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.508G>A	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	8.902	0.956487	0.18507	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03441	3.95;3.97;3.93	5.5	3.66	0.41972	Thioredoxin-like fold (2);	0.306841	0.39083	N	0.001477	T	0.00695	0.0023	N	0.08118	0	0.47862	D	0.999534	B;P	0.50066	0.036;0.931	B;B	0.36504	0.007;0.226	T	0.54091	-0.8345	10	0.07325	T	0.83	.	16.0892	0.81080	0.0:0.7466:0.2533:0.0	.	98;170	Q86UY0;Q8NBS9	.;TXND5_HUMAN	K	98;170;62	ENSP00000442453:E98K;ENSP00000369081:E170K;ENSP00000420784:E62K	ENSP00000442453:E98K	E	-	1	0	TXNDC5	7844819	1.000000	0.71417	0.682000	0.30024	0.181000	0.23173	5.840000	0.69402	0.747000	0.32809	-0.165000	0.13383	GAG		0.552	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		11	76	0	0	0	0.007413	0	11	76				
SLC17A4	10050	broad.mit.edu	37	6	25777118	25777118	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:25777118T>A	ENST00000377905.4	+	10	1318	c.1199T>A	c.(1198-1200)gTg>gAg	p.V400E	SLC17A4_ENST00000439485.2_Missense_Mutation_p.V170E|SLC17A4_ENST00000397076.2_Missense_Mutation_p.V198E	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	400					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.V400E(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACCTTCTTGGTGCTGTCTTCT	0.532																																							uc003nfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1198-1200)GTG>GAG		solute carrier family 17 (sodium phosphate),							152.0	130.0	138.0					6																	25777118		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25777118T>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1199T>A	6.37:g.25777118T>A	ENSP00000367137:p.Val400Glu					SLC17A4_uc011djx.1_Missense_Mutation_p.V170E|SLC17A4_uc003nff.1_Missense_Mutation_p.V189E|SLC17A4_uc003nfg.2_Missense_Mutation_p.V337E|SLC17A4_uc010jqa.2_Intron	p.V400E	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			10	1318	+			400			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1199T>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544107	0.65198	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.73258	0.11;0.02;-0.73	5.62	1.99	0.26369	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.847127	0.10079	N	0.718669	T	0.65281	0.2676	M	0.70595	2.14	0.24112	N	0.995835	P;P;P	0.50369	0.934;0.93;0.828	P;P;P	0.54431	0.711;0.513;0.752	T	0.55477	-0.8135	10	0.72032	D	0.01	.	6.7279	0.23367	0.0:0.2675:0.0:0.7325	.	170;198;400	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	E	400;170;198	ENSP00000367137:V400E;ENSP00000391345:V170E;ENSP00000380266:V198E	ENSP00000367137:V400E	V	+	2	0	SLC17A4	25885097	0.963000	0.33076	0.010000	0.14722	0.835000	0.47333	1.642000	0.37207	0.514000	0.28300	0.528000	0.53228	GTG		0.532	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			34	146	0	0	0	0.005524	0	34	146				
SLC17A1	6568	broad.mit.edu	37	6	25819932	25819932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:25819932C>A	ENST00000244527.4	-	4	534	c.419G>T	c.(418-420)cGa>cTa	p.R140L	SLC17A1_ENST00000476801.1_Missense_Mutation_p.R140L|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R140L|SLC17A1_ENST00000427328.1_Missense_Mutation_p.R140L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	140					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.R140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGAACTGCTCGACATACAAC	0.413																																							uc003nfh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(418-420)CGA>CTA		solute carrier family 17 (sodium phosphate),							60.0	58.0	59.0					6																	25819932		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25819932C>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.419G>T	6.37:g.25819932C>A	ENSP00000244527:p.Arg140Leu					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.R138L|SLC17A1_uc010jqc.1_Missense_Mutation_p.R138L	p.R140L	NM_005074	NP_005065	Q14916	NPT1_HUMAN			4	535	-			140					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.419G>T	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295124	0.60086	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.178426	0.26407	N	0.024545	T	0.81418	0.4818	M	0.93328	3.405	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74630	-0.3601	10	0.87932	D	0	.	12.53	0.56109	0.0:1.0:0.0:0.0	.	140;140	Q14916-2;Q14916	.;NPT1_HUMAN	L	140	ENSP00000244527:R140L;ENSP00000410549:R140L;ENSP00000420614:R140L;ENSP00000420546:R140L	ENSP00000244527:R140L	R	-	2	0	SLC17A1	25927911	0.070000	0.21116	0.011000	0.14972	0.002000	0.02628	1.180000	0.32005	2.423000	0.82170	0.650000	0.86243	CGA		0.413	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			17	67	1	0	1.33834e-09	0.007413	1.87596e-09	17	67				
HIST1H3A	8350	broad.mit.edu	37	6	26021048	26021048	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26021048T>A	ENST00000357647.3	+	1	331	c.331T>A	c.(331-333)Tgc>Agc	p.C111S	HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	111					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.C111S(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CACTAACCTGTGCGCCATCCA	0.592																																							uc003nfp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(331-333)TGC>AGC		histone cluster 1, H3a							59.0	57.0	58.0					6																	26021048		2203	4300	6503	SO:0001583	missense	8350				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26021048T>A	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.331T>A	6.37:g.26021048T>A	ENSP00000350275:p.Cys111Ser					HIST1H4A_uc003nfq.2_5'Flank	p.C111S	NM_003529	NP_003520	P68431	H31_HUMAN			1	331	+			111					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000357647.3	37	c.331T>A	CCDS4570.1	.	.	.	.	.	.	.	.	.	.	t	17.04	3.286256	0.59867	.	.	ENSG00000198366	ENST00000357647	T	0.70282	-0.47	3.66	3.66	0.41972	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85600	0.5734	H	0.97440	4.005	0.48975	D	0.999731	D	0.57257	0.979	P	0.62298	0.9	D	0.89889	0.4036	9	0.87932	D	0	.	12.5261	0.56087	0.0:0.0:0.0:1.0	.	111	P68431	H31_HUMAN	S	111	ENSP00000350275:C111S	ENSP00000350275:C111S	C	+	1	0	HIST1H3A	26129027	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	7.479000	0.81095	1.894000	0.54839	0.455000	0.32223	TGC		0.592	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		10	69	0	0	0	0.008291	0	10	69				
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26032069C>T	ENST00000244661.2	-	1	219	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E74K(5)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607																																							uc003nfs.1		NA																	5	Substitution - Missense(5)		lung(3)|breast(2)	ovary(2)	2						c.(220-222)GAA>AAA		histone cluster 1, H3b							73.0	78.0	76.0					6																	26032069		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032069C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.220G>A	6.37:g.26032069C>T	ENSP00000244661:p.Glu74Lys						p.E74K	NM_003537	NP_003528	P68431	H31_HUMAN			1	220	-			74					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.220G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526579	0.64860	.	.	ENSG00000124693	ENST00000244661	T	0.45276	0.9	5.24	5.24	0.73138	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.48395	D	0.99964	.	.	.	.	.	.	T	0.61232	-0.7104	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000244661:E74K	ENSP00000244661:E74K	E	-	1	0	HIST1H3B	26140048	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAA		0.607	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		21	104	0	0	0	0.003954	0	21	104				
HIST1H2AC	8334	broad.mit.edu	37	6	26124779	26124779	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26124779G>T	ENST00000602637.1	+	1	349	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G107C			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	107						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G107C(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TGCTCAGGGCGGCGTCCTTCC	0.577																																							uc003ngm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GGC>TGC		histone cluster 1, H2ac							94.0	92.0	93.0					6																	26124779		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124779G>T	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.319G>T	6.37:g.26124779G>T	ENSP00000473534:p.Gly107Cys					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.G107C	p.G107C	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	407	+			107					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.319G>T	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	19.69	3.873794	0.72180	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.54866	0.55;0.55	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (2);	0.000000	0.45361	D	0.000365	T	0.77350	0.4117	M	0.92077	3.27	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.82372	-0.0490	10	0.87932	D	0	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	107	Q93077	H2A1C_HUMAN	C	107	ENSP00000367022:G107C;ENSP00000321389:G107C	ENSP00000321389:G107C	G	+	1	0	HIST1H2AC	26232758	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	9.748000	0.98867	2.750000	0.94351	0.467000	0.42956	GGC		0.577	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		36	139	1	0	6.97489e-18	0.004878	1.21474e-17	36	139				
HIST1H2BF	8343	broad.mit.edu	37	6	26199826	26199826	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26199826G>T	ENST00000359985.1	+	1	79	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	14					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G14C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCCAAAAAAGGGCTCCAAAAA	0.498																																							uc003ngx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GGC>TGC		histone cluster 1, H2bf							105.0	103.0	104.0					6																	26199826		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199826G>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.40G>T	6.37:g.26199826G>T	ENSP00000353074:p.Gly14Cys					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.G14C	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	40	+		all_hematologic(11;0.196)	14					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.40G>T	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.140773	0.56936	.	.	ENSG00000197846	ENST00000359985	T	0.25250	1.81	4.71	3.78	0.43462	.	0.000000	0.42172	D	0.000755	T	0.32971	0.0847	.	.	.	0.38050	D	0.935738	.	.	.	.	.	.	T	0.16070	-1.0415	7	0.87932	D	0	.	13.8144	0.63283	0.0:0.0:0.8472:0.1528	.	.	.	.	C	14	ENSP00000353074:G14C	ENSP00000353074:G14C	G	+	1	0	HIST1H2BF	26307805	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	9.724000	0.98775	2.318000	0.78349	0.650000	0.86243	GGC		0.498	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		21	175	1	0	4.96729e-08	0.008871	6.57406e-08	21	175				
HIST1H3G	8355	broad.mit.edu	37	6	26271483	26271483	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26271483G>T	ENST00000305910.3	-	1	129	c.130C>A	c.(130-132)Ccc>Acc	p.P44T	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.P44T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ACGGTGCCGGGACGGTAGCGA	0.642																																							uc003nhi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CCC>ACC		H3 histone family, member H							50.0	54.0	53.0					6																	26271483		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271483G>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.130C>A	6.37:g.26271483G>T	ENSP00000439660:p.Pro44Thr					uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	p.P44T	NM_003534	NP_003525	P68431	H31_HUMAN			1	130	-			44					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.130C>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.164377	0.38217	.	.	ENSG00000256018	ENST00000305910	T	0.48201	0.82	4.42	4.42	0.53409	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.41430	D	0.98785	.	.	.	.	.	.	T	0.65340	-0.6192	6	0.87932	D	0	.	16.4001	0.83637	0.0:0.0:1.0:0.0	.	.	.	.	T	44	ENSP00000439660:P44T	ENSP00000439660:P44T	P	-	1	0	HIST1H3G	26379462	1.000000	0.71417	0.995000	0.50966	0.034000	0.12701	9.527000	0.98044	2.183000	0.69458	0.563000	0.77884	CCC		0.642	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		8	105	1	0	0.000442599	0.006214	0.000490172	8	105				
BTN2A2	10385	broad.mit.edu	37	6	26388252	26388253	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26388252_26388253AA>TT	ENST00000356709.4	+	4	565_566	c.454_455AA>TT	c.(454-456)AAg>TTg	p.K152L	BTN2A2_ENST00000352867.2_Missense_Mutation_p.K36L|BTN2A2_ENST00000469230.1_Missense_Mutation_p.K152L|BTN2A2_ENST00000416795.2_Missense_Mutation_p.K152L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	152					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K152L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTTGGGTCTAAGCCCCTCATT	0.569																																							uc003nhq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)AAG>TTG		butyrophilin, subfamily 2, member A2 isoform a																																				SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26388252_26388253AA>TT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	Exception_encountered	6.37:g.26388252_26388253delinsTT	ENSP00000349143:p.Lys152Leu					BTN2A2_uc011dkf.1_Missense_Mutation_p.K36L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.K36L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.K152L|BTN2A2_uc003nht.2_Missense_Mutation_p.K152L|BTN2A2_uc011dki.1_5'Flank	p.K152L	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			4	540_541	+			152			Extracellular (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	DNP	ENST00000356709.4	37	c.454_455AA>TT	CCDS4606.1																																																																																				0.569	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			17	36	0	0	0	0.004672	0	17	36				
BTN2A3P	54718	broad.mit.edu	37	6	26431801	26431802	+	RNA	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26431801_26431802GG>TT	ENST00000466808.2	+	0	1749_1750							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.R573_E574>S*(1)									CCAGGCATAGGGAACTAGTTGT	0.475																																							uc011dkl.1		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(1717-1722)AGGGAA>AGTTAA		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;																																						54718							g.chr6:26431801_26431802GG>TT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453	Exception_encountered	6.37:g.26431801_26431802delinsTT						BTN2A3_uc011dkm.1_RNA	p.573_574RE>S*							6	1749_1750	+								A6NEF4	Nonsense_Mutation	DNP	ENST00000466808.2	37	c.1719_1720GG>TT																																																																																					0.475	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		26	221	0	0	0	0.004672	0	26	221				
BTN1A1	696	broad.mit.edu	37	6	26501952	26501952	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26501952C>A	ENST00000244513.6	+	2	280	c.214C>A	c.(214-216)Ccg>Acg	p.P72T		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	72	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.P72T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GAAGGTTTCGCCGGCCGTGCT	0.692																																							uc003nif.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(214-216)CCG>ACG		butyrophilin, subfamily 1, member A1 precursor							21.0	24.0	23.0					6																	26501952		2198	4294	6492	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501952C>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.214C>A	6.37:g.26501952C>A	ENSP00000244513:p.Pro72Thr						p.P72T	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			2	234	+			72			Extracellular (Potential).|Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.214C>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091887	0.36952	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.68331	-0.32	5.74	0.626	0.17670	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.244160	0.05451	N	0.549463	T	0.34890	0.0913	L	0.52573	1.65	0.09310	N	1	B	0.23990	0.095	B	0.25884	0.064	T	0.18650	-1.0330	10	0.38643	T	0.18	.	2.2104	0.03946	0.144:0.3846:0.3057:0.1657	.	72	Q13410	BT1A1_HUMAN	T	72	ENSP00000244513:P72T	ENSP00000244513:P72T	P	+	1	0	BTN1A1	26609931	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.895000	0.04118	-0.181000	0.10619	0.561000	0.74099	CCG		0.692	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		7	43	1	0	2.7689e-08	0.001984	3.71198e-08	7	43				
OR2J3	442186	broad.mit.edu	37	6	29079941	29079941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29079941G>T	ENST00000377169.1	+	1	274	c.274G>T	c.(274-276)Gaa>Taa	p.E92*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E92*(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGGGCCCGGAAAAGACCAT	0.488																																							uc011dll.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(274-276)GAA>TAA		olfactory receptor, family 2, subfamily J,							189.0	197.0	194.0					6																	29079941		1253	2561	3814	SO:0001587	stop_gained	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079941G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.274G>T	6.37:g.29079941G>T	ENSP00000366374:p.Glu92*						p.E92*	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	274	+			92			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Nonsense_Mutation	SNP	ENST00000377169.1	37	c.274G>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.790944	0.16258	.	.	ENSG00000204701	ENST00000377169	.	.	.	2.78	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.8151	0.29254	0.2299:0.0:0.7701:0.0	.	.	.	.	X	92	.	ENSP00000366374:E92X	E	+	1	0	OR2J3	29187920	0.000000	0.05858	0.013000	0.15412	0.077000	0.17291	-2.469000	0.00992	0.491000	0.27793	-0.436000	0.05848	GAA		0.488	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			20	214	1	0	1.33834e-09	0.007413	1.87596e-09	20	214				
OR12D2	26529	broad.mit.edu	37	6	29364690	29364690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29364690T>C	ENST00000383555.2	+	1	275	c.214T>C	c.(214-216)Tct>Cct	p.S72P	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S72P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TATCTGTTACTCTACGGTGAC	0.448																																							uc003nmf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)TCT>CCT		olfactory receptor, family 12, subfamily D,							105.0	106.0	106.0					6																	29364690		1509	2709	4218	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364690T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.214T>C	6.37:g.29364690T>C	ENSP00000373047:p.Ser72Pro						p.S72P	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	275	+			72			Helical; Name=2; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.214T>C	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	T	6.748	0.506774	0.12883	.	.	ENSG00000168787	ENST00000383555	T	0.00832	5.64	4.07	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.01661	0.0053	M	0.79011	2.435	0.09310	N	1	D	0.71674	0.998	D	0.68765	0.96	T	0.40515	-0.9559	10	0.87932	D	0	.	7.8603	0.29506	0.5351:0.0:0.0:0.4649	.	72	P58182	O12D2_HUMAN	P	72	ENSP00000373047:S72P	ENSP00000373047:S72P	S	+	1	0	OR12D2	29472669	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-0.050000	0.11904	0.578000	0.29487	0.338000	0.21704	TCT		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			18	123	0	0	0	0.006122	0	18	123				
GABBR1	2550	broad.mit.edu	37	6	29599290	29599290	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29599290G>A	ENST00000377034.4	-	3	507	c.172C>T	c.(172-174)Cca>Tca	p.P58S	GABBR1_ENST00000376977.3_Missense_Mutation_p.P58S|GABBR1_ENST00000377016.4_Missense_Mutation_p.P58S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	58	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.P58S(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TAGTCCACTGGCAGGAAGTTG	0.617																																							uc003nmt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(172-174)CCA>TCA		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						98.0	104.0	102.0					6																	29599290		2203	4300	6503	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599290G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.172C>T	6.37:g.29599290G>A	ENSP00000366233:p.Pro58Ser					GABBR1_uc003nmu.3_Missense_Mutation_p.P58S|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Missense_Mutation_p.P58S	p.P58S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			3	508	-			58			Sushi 1.|Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.172C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993694	0.93167	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;D;T;T;T	0.94576	-0.01;-3.46;-0.01;-0.01;-0.01	4.49	4.49	0.54785	Complement control module (2);Sushi/SCR/CCP (2);	0.144405	0.47093	D	0.000259	D	0.93539	0.7938	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.994;0.996	D	0.95255	0.8363	10	0.87932	D	0	-16.7921	14.7542	0.69552	0.0:0.0:1.0:0.0	.	58;58;58	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	S	58;58;58;58;63	ENSP00000366176:P58S;ENSP00000366215:P58S;ENSP00000366233:P58S;ENSP00000419755:P58S;ENSP00000417332:P63S	ENSP00000366176:P58S	P	-	1	0	GABBR1	29707269	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	8.974000	0.93433	2.066000	0.61787	0.456000	0.33151	CCA		0.617	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			14	279	0	0	0	0.00245	0	14	279				
MOG	4340	broad.mit.edu	37	6	29633942	29633943	+	Missense_Mutation	DNP	GG	GG	TT	rs143168440		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29633942_29633943GG>TT	ENST00000376917.3	+	3	679_680	c.450_451GG>TT	c.(448-453)tgGGtg>tgTTtg	p.150_151WV>CL	MOG_ENST00000376894.4_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000376891.4_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000416766.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000376888.2_Missense_Mutation_p.34_35WV>CL|MOG_ENST00000431798.2_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000483013.1_Missense_Mutation_p.34_35WV>CL|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000494692.1_Missense_Mutation_p.150_151WV>CL|MOG_ENST00000490427.1_Missense_Mutation_p.34_35WV>CL	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	150					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W150_V151>CL(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ctttctactgggTGAGCCCTGG	0.545																																							uc003nnf.2		NA																	2	Complex - compound substitution(2)		lung(2)	ovary(1)	1						c.(448-453)TGGGTG>TGTTTG		myelin oligodendrocyte glycoprotein isoform																																				SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29633942_29633943GG>TT		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	Exception_encountered	6.37:g.29633942_29633943delinsTT	ENSP00000366115:p.W150_V151delinsCL					MOG_uc003nmy.1_Missense_Mutation_p.150_151WV>CL|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.80_81WV>CL|MOG_uc003nna.2_Missense_Mutation_p.34_35WV>CL|MOG_uc011dlu.1_Missense_Mutation_p.34_35WV>CL|MOG_uc011dlv.1_Missense_Mutation_p.34_35WV>CL|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.150_151WV>CL|MOG_uc003nng.2_Missense_Mutation_p.150_151WV>CL|MOG_uc003nnh.2_Missense_Mutation_p.150_151WV>CL|MOG_uc003nni.2_Missense_Mutation_p.150_151WV>CL|MOG_uc003nnj.2_Missense_Mutation_p.150_151WV>CL|MOG_uc003nnk.2_Missense_Mutation_p.150_151WV>CL	p.150_151WV>CL	NM_206809	NP_996532	Q16653	MOG_HUMAN			3	628_629	+			150_151			Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	DNP	ENST00000376917.3	37	c.450_451GG>TT	CCDS34370.1																																																																																				0.545	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		65	284	0	0	0	0.004672	0	65	284				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																							uc003rtl.3		NA																	0					0						c.(376-378)ATG>ACG		Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038).																																						3137							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA	p.M126T							5	739	+									Missense_Mutation	SNP	ENST00000376797.3	37	c.377T>C																																																																																					0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		8	73	0	0	0	0.000978	0	8	73				
TRIM15	89870	broad.mit.edu	37	6	30131749	30131749	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:30131749C>G	ENST00000376694.4	+	1	757	c.288C>G	c.(286-288)aaC>aaG	p.N96K	TRIM15_ENST00000376688.1_Missense_Mutation_p.N96K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	96					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N96K(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTGCGAGAACGATGCCGAGT	0.622																																							uc010jrx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)AAC>AAG		tripartite motif protein 15							104.0	66.0	80.0					6																	30131749		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131749C>G	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.288C>G	6.37:g.30131749C>G	ENSP00000365884:p.Asn96Lys						p.N96K	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	767	+			96			B box-type.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.288C>G	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880575	0.17467	.	.	ENSG00000204610	ENST00000376695;ENST00000376694;ENST00000376688	T;T	0.42900	0.96;0.96	5.56	-9.77	0.00500	Zinc finger, B-box (3);	0.395826	0.21703	N	0.070388	T	0.03739	0.0106	N	0.03281	-0.365	0.09310	N	1	B	0.26445	0.149	B	0.24974	0.057	T	0.17048	-1.0382	10	0.46703	T	0.11	.	2.6873	0.05111	0.1662:0.186:0.1588:0.489	.	96	Q9C019	TRI15_HUMAN	K	27;96;96	ENSP00000365884:N96K;ENSP00000365878:N96K	ENSP00000365878:N96K	N	+	3	2	TRIM15	30239728	0.000000	0.05858	0.011000	0.14972	0.385000	0.30292	-8.814000	0.00016	-1.774000	0.01288	0.453000	0.30009	AAC		0.622	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		17	102	0	0	0	0.006122	0	17	102				
TRIM15	89870	broad.mit.edu	37	6	30138348	30138348	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:30138348C>T	ENST00000376694.4	+	5	1271	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	268					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H268Y(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGTGATTTCCACAGGAAAAT	0.498																																							uc010jrx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)CAC>TAC		tripartite motif protein 15							108.0	107.0	107.0					6																	30138348		2203	4300	6503	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138348C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.802C>T	6.37:g.30138348C>T	ENSP00000365884:p.His268Tyr						p.H268Y	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			5	1281	+			268					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.802C>T	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	3.250	-0.153405	0.06585	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.54675	0.56	5.62	4.75	0.60458	.	0.108387	0.41294	D	0.000908	T	0.15782	0.0380	N	0.16266	0.395	0.80722	D	1	P	0.43094	0.799	B	0.36845	0.234	T	0.04427	-1.0952	10	0.12430	T	0.62	.	9.4718	0.38847	0.0:0.9059:0.0:0.0941	.	268	Q9C019	TRI15_HUMAN	Y	199;268	ENSP00000365884:H268Y	ENSP00000365884:H268Y	H	+	1	0	TRIM15	30246327	0.000000	0.05858	0.999000	0.59377	0.768000	0.43524	0.010000	0.13242	2.642000	0.89623	0.579000	0.79373	CAC		0.498	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		27	94	0	0	0	0.007291	0	27	94				
PRRC2A	7916	broad.mit.edu	37	6	31599436	31599436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31599436G>T	ENST00000376033.2	+	16	3220	c.2986G>T	c.(2986-2988)Gag>Tag	p.E996*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E996*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	996	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E996*(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCCCCAAGGAGACCCCACC	0.607																																							uc003nvb.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2986-2988)GAG>TAG		HLA-B associated transcript-2							16.0	19.0	18.0					6																	31599436		1506	2708	4214	SO:0001587	stop_gained	7916					cytoplasm|nucleus	protein binding	g.chr6:31599436G>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2986G>T	6.37:g.31599436G>T	ENSP00000365201:p.Glu996*					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Nonsense_Mutation_p.E996*	p.E996*	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3235	+			996			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	ENST00000376033.2	37	c.2986G>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	38	6.999876	0.97994	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.2	5.2	0.72013	.	0.385350	0.22638	N	0.057483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9995	17.6776	0.88235	0.0:0.0:1.0:0.0	.	.	.	.	X	996;985;996;996;221	.	ENSP00000365175:E996X	E	+	1	0	PRRC2A	31707415	1.000000	0.71417	0.998000	0.56505	0.021000	0.10359	3.815000	0.55651	2.722000	0.93159	0.655000	0.94253	GAG		0.607	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		5	55	1	0	1.024e-07	0.000602	1.34888e-07	5	55				
LY6G6F	259215	broad.mit.edu	37	6	31675821	31675821	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31675821G>T	ENST00000375832.4	+	3	578	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G186W|MEGT1_ENST00000503322.1_Missense_Mutation_p.G186W|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G186W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GGTGTGTCCTGGGGAGGGGCT	0.597																																							uc003nwa.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(556-558)GGG>TGG		G6f protein precursor							109.0	121.0	117.0					6																	31675821		1511	2709	4220	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31675821G>T		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.556G>T	6.37:g.31675821G>T	ENSP00000364992:p.Gly186Trp					BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.G186W	p.G186W	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	556	+			186			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.556G>T	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176450	0.38413	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.19105	2.44;2.17;2.44	5.3	0.169	0.15017	.	0.467357	0.20048	N	0.100377	T	0.14356	0.0347	L	0.57536	1.79	0.20563	N	0.999883	D;D	0.58620	0.983;0.983	P;P	0.58577	0.841;0.841	T	0.08576	-1.0715	10	0.66056	D	0.02	-9.8437	1.11	0.01702	0.2073:0.2636:0.3646:0.1644	.	186;186	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	W	186	ENSP00000452432:G186W;ENSP00000364992:G186W;ENSP00000421232:G186W	ENSP00000364992:G186W	G	+	1	0	XXbac-BPG32J3.19;LY6G6F	31783800	0.127000	0.22367	0.957000	0.39632	0.871000	0.50021	0.287000	0.18920	0.573000	0.29400	0.591000	0.81541	GGG		0.597	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		14	220	1	0	7.93312e-07	0.00245	9.92523e-07	14	220				
HSPA1L	3305	broad.mit.edu	37	6	31777852	31777852	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31777852G>A	ENST00000375654.4	-	2	2087	c.1898C>T	c.(1897-1899)aCa>aTa	p.T633I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T633I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	633					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.T633I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGGGGCCTGTGGCAGGCCT	0.458																																							uc003nxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1897-1899)ACA>ATA		heat shock 70kDa protein 1-like							66.0	71.0	69.0					6																	31777852		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31777852G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1898C>T	6.37:g.31777852G>A	ENSP00000364805:p.Thr633Ile					HSPA1L_uc010jte.2_Missense_Mutation_p.T633I	p.T633I	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	2081	-			633					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1898C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	4.541	0.100418	0.08731	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01025	5.43;5.43	5.94	5.02	0.67125	.	0.000000	0.35772	N	0.002996	T	0.00552	0.0018	L	0.55481	1.735	0.09310	N	1	B	0.28552	0.215	B	0.25759	0.063	T	0.44907	-0.9297	10	0.87932	D	0	-2.2362	9.2419	0.37502	0.0:0.1565:0.6813:0.1622	.	633	P34931	HS71L_HUMAN	I	633;633;578	ENSP00000364805:T633I;ENSP00000387691:T633I	ENSP00000364804:T578I	T	-	2	0	HSPA1L	31885831	0.013000	0.17824	0.583000	0.28640	0.128000	0.20619	1.744000	0.38268	2.807000	0.96579	0.591000	0.81541	ACA		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			20	61	0	0	0	0.002096	0	20	61				
CYP21A2	1589	broad.mit.edu	37	6	32006974	32006974	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:32006974C>T	ENST00000418967.2	+	3	554	c.396C>T	c.(394-396)atC>atT	p.I132I	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Silent_p.I102I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	131					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.I132I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TGCTGGGCATCCGTGACTCCA	0.622																																					Melanoma(174;1669 1998 3915 34700 46447)	Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)ATC>ATT		cytochrome P450, family 21, subfamily A,							22.0	19.0	20.0					6																	32006974		2201	4294	6495	SO:0001819	synonymous_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32006974C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.396C>T	6.37:g.32006974C>T						CYP21A2_uc003nzf.1_Silent_p.I102I	p.I132I	NM_000500	NP_000491	P08686	CP21A_HUMAN			3	514	+			131					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	c.396C>T	CCDS4735.1																																																																																				0.622	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		4	17	0	0	0	0.001168	0	4	17				
BRD2	6046	broad.mit.edu	37	6	32942346	32942346	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:32942346C>T	ENST00000374825.4	+	3	1838	c.137C>T	c.(136-138)cCc>cTc	p.P46L	BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Missense_Mutation_p.P46L|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000395289.2_Missense_Mutation_p.P46L|BRD2_ENST00000395287.1_Missense_Mutation_p.P46L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	46					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.P46L(1)		central_nervous_system(3)|stomach(2)	5						TTTGAGAGCCCCACAATGGCT	0.587																																							uc003ocn.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|stomach(2)	5						c.(136-138)CCC>CTC		bromodomain containing 2							83.0	82.0	82.0					6																	32942346		2203	4300	6503	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32942346C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.137C>T	6.37:g.32942346C>T	ENSP00000363958:p.Pro46Leu					BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.P46L|BRD2_uc003ocp.3_5'UTR|BRD2_uc010juh.2_Missense_Mutation_p.P46L	p.P46L	NM_005104	NP_005095	P25440	BRD2_HUMAN			3	1838	+			46					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.137C>T	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.236239|5.236239	0.95240|0.95240	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287|ENST00000456339;ENST00000449025	T;T;T;T|T;T	0.07216|0.16897	3.24;3.24;3.21;3.21|2.31;3.3	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|0.000000	0.47455|0.47455	D|D	0.000236|0.000236	T|T	0.27278|0.27278	0.0669|0.0669	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.58520|.	0.84;0.703|.	T|T	0.00361|0.00361	-1.1789|-1.1789	10|8	0.72032|0.34782	D|T	0.01|0.22	-15.499|-15.499	16.4055|16.4055	0.83662|0.83662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;46|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	L|S	46|48;52	ENSP00000363958:P46L;ENSP00000363964:P46L;ENSP00000378704:P46L;ENSP00000378702:P46L|ENSP00000411195:P48S;ENSP00000409613:P52S	ENSP00000363958:P46L|ENSP00000409613:P52S	P|P	+|+	2|1	0|0	BRD2|BRD2	33050324|33050324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.309000|7.309000	0.78937|0.78937	2.726000|2.726000	0.93360|0.93360	0.643000|0.643000	0.83706|0.83706	CCC|CCA		0.587	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			13	148	0	0	0	0.00245	0	13	148				
ITPR3	3710	broad.mit.edu	37	6	33646533	33646533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33646533G>T	ENST00000374316.5	+	31	4949	c.3889G>T	c.(3889-3891)Gtg>Ttg	p.V1297L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1297L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1297					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.V1297L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGGCGCCATGTGCAGTACCT	0.582																																							uc011drk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(3889-3891)GTG>TTG		inositol 1,4,5-triphosphate receptor, type 3							58.0	46.0	50.0					6																	33646533		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33646533G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3889G>T	6.37:g.33646533G>T	ENSP00000363435:p.Val1297Leu						p.V1297L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			30	4108	+			1297			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3889G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184496	0.94885	.	.	ENSG00000096433	ENST00000374316	D	0.95554	-3.74	5.35	5.35	0.76521	Intracellular calcium-release channel (1);	0.062950	0.64402	D	0.000005	D	0.96491	0.8855	M	0.76170	2.325	0.58432	D	0.999994	P	0.46656	0.882	P	0.53401	0.725	D	0.96700	0.9517	10	0.72032	D	0.01	-33.8407	19.4294	0.94758	0.0:0.0:1.0:0.0	.	1297	Q14573	ITPR3_HUMAN	L	1297	ENSP00000363435:V1297L	ENSP00000363435:V1297L	V	+	1	0	ITPR3	33754511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.871000	0.87180	2.667000	0.90743	0.561000	0.74099	GTG		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	19	1	0	2.7689e-08	0.001984	3.71198e-08	6	19				
ITPR3	3710	broad.mit.edu	37	6	33648392	33648392	+	Missense_Mutation	SNP	G	G	T	rs572905492	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33648392G>T	ENST00000374316.5	+	34	5471	c.4411G>T	c.(4411-4413)Gtt>Ttt	p.V1471F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1471F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1471					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.V1471F(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGTGCTGAGCGTTGTGCTGGA	0.612																																							uc011drk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(4411-4413)GTT>TTT		inositol 1,4,5-triphosphate receptor, type 3							119.0	98.0	105.0					6																	33648392		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33648392G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4411G>T	6.37:g.33648392G>T	ENSP00000363435:p.Val1471Phe						p.V1471F	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			33	4630	+			1471			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4411G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195312	0.78902	.	.	ENSG00000096433	ENST00000374316	T	0.63913	-0.07	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.44542	1.39	0.52099	D	0.999949	D	0.56287	0.975	P	0.55112	0.769	T	0.63501	-0.6623	10	0.66056	D	0.02	-38.9556	12.5287	0.56102	0.0763:0.0:0.9237:0.0	.	1471	Q14573	ITPR3_HUMAN	F	1471	ENSP00000363435:V1471F	ENSP00000363435:V1471F	V	+	1	0	ITPR3	33756370	1.000000	0.71417	0.995000	0.50966	0.622000	0.37654	5.025000	0.64097	2.515000	0.84797	0.655000	0.94253	GTT		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		47	140	1	0	4.21674e-32	0.00361	8.1759e-32	47	140				
GRM4	2914	broad.mit.edu	37	6	33996102	33996102	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33996102C>G	ENST00000538487.2	-	10	2927	c.2484G>C	c.(2482-2484)ctG>ctC	p.L828L	GRM4_ENST00000535756.1_Silent_p.L695L|GRM4_ENST00000455714.2_Silent_p.L688L|GRM4_ENST00000544773.2_Silent_p.L659L|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Silent_p.L712L|GRM4_ENST00000374181.4_Silent_p.L828L|GRM4_ENST00000609222.1_Silent_p.L695L	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	828					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.L828L(2)|p.L712L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCGAGGCGCTCAGACTCACCG	0.632																																							uc003oir.3		NA																	3	Substitution - coding silent(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(2482-2484)CTG>CTC		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						132.0	120.0	124.0					6																	33996102		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:33996102C>G	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2484G>C	6.37:g.33996102C>G						GRM4_uc011dsn.1_Silent_p.L781L|GRM4_uc010jvh.2_Silent_p.L828L|GRM4_uc010jvi.2_Silent_p.L520L|GRM4_uc003oio.2_Silent_p.L520L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L688L|GRM4_uc003oiq.2_Silent_p.L695L|GRM4_uc011dsm.1_Silent_p.L659L	p.L828L	NM_000841	NP_000832	Q14833	GRM4_HUMAN			9	2654	-			828			Helical; Name=7; (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2484G>C	CCDS4787.1																																																																																				0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			18	235	0	0	0	0.008871	0	18	235				
TCP11	6954	broad.mit.edu	37	6	35090037	35090037	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:35090037G>T	ENST00000512012.1	-	4	591	c.435C>A	c.(433-435)ctC>ctA	p.L145L	TCP11_ENST00000444780.2_Silent_p.L153L|TCP11_ENST00000311875.5_Silent_p.L158L|TCP11_ENST00000244645.3_Silent_p.L83L|TCP11_ENST00000373979.2_Silent_p.L83L|TCP11_ENST00000418521.2_Silent_p.L82L|TCP11_ENST00000373974.4_Silent_p.L112L|TCP11_ENST00000412155.2_Silent_p.L107L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L83L(1)|p.L158L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCTCCTGCTTGAGCAAGTCCA	0.488																																							uc003okd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(472-474)CTC>CTA		t-complex 11 isoform 1							128.0	118.0	121.0					6																	35090037		2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35090037G>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.435C>A	6.37:g.35090037G>T						TCP11_uc003ojz.1_Silent_p.L83L|TCP11_uc003oka.2_Silent_p.L83L|TCP11_uc003okb.2_Silent_p.L82L|TCP11_uc003okc.2_Silent_p.L82L|TCP11_uc011dsu.1_Silent_p.L140L|TCP11_uc011dsv.1_Silent_p.L107L|TCP11_uc011dsw.1_Silent_p.L112L	p.L158L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			5	655	-			145					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.474C>A																																																																																					0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		20	153	1	0	8.34094e-07	0.008871	1.0409e-06	20	153				
KCTD20	222658	broad.mit.edu	37	6	36442578	36442578	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:36442578A>C	ENST00000373731.2	+	3	564	c.173A>C	c.(172-174)gAc>gCc	p.D58A	KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000449081.2_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	58					protein homooligomerization (GO:0051260)			p.D58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CTCTCACTTGACTATGCCTCT	0.398																																							uc003ome.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(172-174)GAC>GCC		potassium channel tetramerisation domain							75.0	76.0	76.0					6																	36442578		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36442578A>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.173A>C	6.37:g.36442578A>C	ENSP00000362836:p.Asp58Ala					KCTD20_uc011dtm.1_Intron|KCTD20_uc011dtn.1_Intron|KCTD20_uc010jwk.2_Intron|KCTD20_uc011dto.1_Intron	p.D58A	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			3	564	+			58					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.173A>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217350	0.39201	.	.	ENSG00000112078	ENST00000373731;ENST00000483557;ENST00000498267;ENST00000460983	T	0.49432	0.78	5.55	5.55	0.83447	.	0.270297	0.29273	N	0.012627	T	0.14270	0.0345	L	0.27053	0.805	0.27813	N	0.94206	B	0.34015	0.435	B	0.30401	0.115	T	0.03887	-1.0995	10	0.29301	T	0.29	-27.2439	6.7974	0.23732	0.871:0.0:0.129:0.0	.	58	Q7Z5Y7	KCD20_HUMAN	A	58	ENSP00000362836:D58A	ENSP00000362836:D58A	D	+	2	0	KCTD20	36550556	0.995000	0.38212	0.611000	0.29010	0.909000	0.53808	4.602000	0.61098	2.117000	0.64856	0.533000	0.62120	GAC		0.398	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		23	93	0	0	0	0.003954	0	23	93				
MDGA1	266727	broad.mit.edu	37	6	37620025	37620025	+	Silent	SNP	G	G	A	rs2273108		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:37620025G>A	ENST00000434837.3	-	7	2252	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	MDGA1_ENST00000505425.1_Silent_p.H358H|MDGA1_ENST00000297153.7_Silent_p.H358H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	358	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.H358H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCATCCACGTGGCACGATA	0.562																																							uc003onu.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1072-1074)CAC>CAT		MAM domain containing		G		0,4328		0,0,2164	59.0	65.0	63.0		1074	-4.8	0.9	6	dbSNP_100	63	1,8515		0,1,4257	no	coding-synonymous	MDGA1	NM_153487.3		0,1,6421	AA,AG,GG		0.0117,0.0,0.0078		358/956	37620025	1,12843	2164	4258	6422	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37620025G>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1074C>T	6.37:g.37620025G>A						MDGA1_uc003onw.3_RNA	p.H358H	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			7	2253	-			358			Ig-like 4.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.1074C>T	CCDS47417.1																																																																																				0.562	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			18	78	0	0	0	0.006122	0	18	78				
DNAH8	1769	broad.mit.edu	37	6	38885138	38885138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:38885138C>G	ENST00000359357.3	+	67	9867	c.9613C>G	c.(9613-9615)Cca>Gca	p.P3205A	DNAH8_ENST00000441566.1_Missense_Mutation_p.P3169A|DNAH8_ENST00000449981.2_Missense_Mutation_p.P3422A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3205	Stalk. {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.P3205A(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACTATGGATCCAGAAAAATC	0.398																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9613-9615)CCA>GCA		dynein, axonemal, heavy polypeptide 8							129.0	123.0	125.0					6																	38885138		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38885138C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9613C>G	6.37:g.38885138C>G	ENSP00000352312:p.Pro3205Ala					uc003oof.1_Intron	p.P3205A	NM_001371	NP_001362					67	10213	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9613C>G		.	.	.	.	.	.	.	.	.	.	C	17.37	3.372804	0.61624	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.81579	-1.51;-1.51;-1.51	5.75	5.75	0.90469	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.86651	2.83	0.52501	D	0.99995	P	0.51933	0.949	P	0.47251	0.542	T	0.80917	-0.1168	10	0.08837	T	0.75	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	3205	Q96JB1	DYH8_HUMAN	A	3410;3410;3205;3169	ENSP00000333363:P3410A;ENSP00000352312:P3205A;ENSP00000402294:P3169A	ENSP00000333363:P3410A	P	+	1	0	DNAH8	38993116	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.209000	0.51122	2.712000	0.92718	0.591000	0.81541	CCA		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		9	125	0	0	0	0.004482	0	9	125				
DNAH8	1769	broad.mit.edu	37	6	38980322	38980322	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:38980322T>A	ENST00000359357.3	+	89	13226	c.12972T>A	c.(12970-12972)acT>acA	p.T4324T	DNAH8_ENST00000441566.1_Silent_p.T4288T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4324					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.T4324T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGGTTCACTGAACTTTTGG	0.438																																							uc003ooe.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12970-12972)ACT>ACA		dynein, axonemal, heavy polypeptide 8							195.0	186.0	189.0					6																	38980322		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38980322T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12972T>A	6.37:g.38980322T>A							p.T4324T	NM_001371	NP_001362					89	13572	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12972T>A																																																																																					0.438	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	249	0	0	0	0.008361	0	30	249				
UBR2	23304	broad.mit.edu	37	6	42582899	42582899	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:42582899A>T	ENST00000372899.1	+	9	1334	c.1076A>T	c.(1075-1077)gAt>gTt	p.D359V	UBR2_ENST00000372901.1_Missense_Mutation_p.D359V|UBR2_ENST00000372903.2_Missense_Mutation_p.D359V|UBR2_ENST00000372883.3_5'Flank	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	359					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D359V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCTTAGTGATTCCAAATTA	0.373																																							uc011dur.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1075-1077)GAT>GTT		ubiquitin protein ligase E3 component n-recognin							122.0	122.0	122.0					6																	42582899		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42582899A>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1076A>T	6.37:g.42582899A>T	ENSP00000361990:p.Asp359Val					UBR2_uc011dus.1_Missense_Mutation_p.D4V|UBR2_uc010jxv.1_5'Flank|UBR2_uc003osh.2_5'Flank|UBR2_uc003osf.2_Missense_Mutation_p.D359V	p.D359V	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		9	1076	+	Colorectal(47;0.196)		359					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1076A>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650377	0.87958	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.78126	-1.15;-0.32;-0.24	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.983;0.995	D	0.89758	0.3945	10	0.87932	D	0	-0.0815	16.3526	0.83220	1.0:0.0:0.0:0.0	.	359;359;359	Q8IWV8-4;Q8IWV8;Q8IWV8-2	.;UBR2_HUMAN;.	V	359	ENSP00000361994:D359V;ENSP00000361990:D359V;ENSP00000361992:D359V	ENSP00000361990:D359V	D	+	2	0	UBR2	42690877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.850000	0.92190	2.255000	0.74692	0.533000	0.62120	GAT		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		13	77	0	0	0	0.001855	0	13	77				
UBR2	23304	broad.mit.edu	37	6	42650816	42650816	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:42650816A>T	ENST00000372899.1	+	43	5000	c.4742A>T	c.(4741-4743)aAa>aTa	p.K1581I	UBR2_ENST00000372901.1_Missense_Mutation_p.K1581I|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1581					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1581I(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGTGAAGTTAAAAGATATCTA	0.373																																							uc011dur.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4741-4743)AAA>ATA		ubiquitin protein ligase E3 component n-recognin							101.0	98.0	99.0					6																	42650816		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42650816A>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4742A>T	6.37:g.42650816A>T	ENSP00000361990:p.Lys1581Ile					UBR2_uc011dus.1_Missense_Mutation_p.K1226I|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Missense_Mutation_p.K169I	p.K1581I	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		43	4742	+	Colorectal(47;0.196)		1581					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4742A>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350093	0.61183	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.21	4.01	0.46588	.	0.204948	0.50627	D	0.000119	T	0.32615	0.0835	L	0.33485	1.01	0.80722	D	1	P;B	0.39520	0.676;0.001	P;B	0.51918	0.684;0.001	T	0.11421	-1.0588	10	0.27785	T	0.31	-8.1934	10.0498	0.42208	0.9221:0.0:0.0779:0.0	.	1581;1581	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	I	1581	ENSP00000361990:K1581I;ENSP00000361992:K1581I	ENSP00000361990:K1581I	K	+	2	0	UBR2	42758794	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.980000	0.49321	0.897000	0.36392	0.482000	0.46254	AAA		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		5	59	0	0	0	0.001168	0	5	59				
SLC22A7	10864	broad.mit.edu	37	6	43266099	43266099	+	Start_Codon_SNP	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:43266099G>T	ENST00000372585.5	+	1	98	c.3G>T	c.(1-3)atG>atT	p.M1I	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Start_Codon_SNP_p.M1I|SLC22A7_ENST00000372574.3_Start_Codon_SNP_p.M1I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	1					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.M1I(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGAGCAGCATGGGCTTTGAGG	0.612																																							uc003out.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		solute carrier family 22 member 7 isoform b							34.0	38.0	37.0					6																	43266099		2196	4290	6486	SO:0001582	initiator_codon_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266099G>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.3G>T	6.37:g.43266099G>T	ENSP00000361666:p.Met1Ile					SLC22A7_uc010jyl.1_Missense_Mutation_p.M1I|SLC22A7_uc003ous.2_Missense_Mutation_p.M1I	p.M1I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	102	+			1					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.3G>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968375	0.53614	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.52	4.59	0.56863	.	0.079822	0.85682	D	0.000000	T	0.80253	0.4589	.	.	.	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.999	T	0.82400	-0.0476	9	0.87932	D	0	.	12.8225	0.57700	0.0:0.0:0.8358:0.1642	.	1;1;1	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	I	1	ENSP00000411818:M1I;ENSP00000361670:M1I;ENSP00000361666:M1I;ENSP00000361655:M1I	ENSP00000361655:M1I	M	+	3	0	SLC22A7	43374077	1.000000	0.71417	0.949000	0.38748	0.024000	0.10985	6.434000	0.73408	2.582000	0.87167	0.563000	0.77884	ATG		0.612	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		Missense_Mutation	4	39	1	0	0.000602214	0.000602	0.000663582	4	39				
MRPL14	64928	broad.mit.edu	37	6	44081782	44081782	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:44081782C>G	ENST00000372014.3	-	3	367	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	79					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G79A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TTTCTTCTGTCCCTTGATGGC	0.567																																							uc003owp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)GGA>GCA		mitochondrial ribosomal protein L14 precursor							188.0	189.0	189.0					6																	44081782		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081782C>G	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.236G>C	6.37:g.44081782C>G	ENSP00000361084:p.Gly79Ala						p.G79A	NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	365	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		79					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.236G>C	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952891	0.92660	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	5.79	0.91817	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	D	0.84588	0.5505	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86996	0.2113	9	0.72032	D	0.01	-5.2447	19.0191	0.92906	0.0:1.0:0.0:0.0	.	79	Q6P1L8	RM14_HUMAN	A	79	.	ENSP00000361084:G79A	G	-	2	0	MRPL14	44189760	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.810000	0.86072	2.728000	0.93425	0.561000	0.74099	GGA		0.567	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		50	407	0	0	0	0.00361	0	50	407				
PKHD1	5314	broad.mit.edu	37	6	51497480	51497480	+	Missense_Mutation	SNP	G	G	A	rs532055897	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:51497480G>A	ENST00000371117.3	-	65	11823	c.11548C>T	c.(11548-11550)Cct>Tct	p.P3850S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3850					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P3850S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAGTCACAGGCAAGACAGCA	0.463																																							uc003pah.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11548-11550)CCT>TCT		fibrocystin isoform 1							95.0	90.0	91.0					6																	51497480		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497480G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11548C>T	6.37:g.51497480G>A	ENSP00000360158:p.Pro3850Ser						p.P3850S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	11824	-	Lung NSC(77;0.0605)		3850			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11548C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444322	0.43429	.	.	ENSG00000170927	ENST00000371117	D	0.86497	-2.13	5.46	3.68	0.42216	.	0.000000	0.64402	D	0.000002	D	0.86318	0.5904	M	0.66939	2.045	0.22552	N	0.998993	D	0.89917	1.0	D	0.63488	0.915	T	0.79596	-0.1738	10	0.56958	D	0.05	.	8.4587	0.32915	0.0827:0.1547:0.7627:0.0	.	3850	P08F94	PKHD1_HUMAN	S	3850	ENSP00000360158:P3850S	ENSP00000360158:P3850S	P	-	1	0	PKHD1	51605439	1.000000	0.71417	0.017000	0.16124	0.371000	0.29859	3.498000	0.53302	0.674000	0.31244	0.650000	0.86243	CCT		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	108	0	0	0	0.001368	0	10	108				
PKHD1	5314	broad.mit.edu	37	6	51915060	51915060	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:51915060C>A	ENST00000371117.3	-	22	2449	c.2174G>T	c.(2173-2175)gGg>gTg	p.G725V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G725V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	725					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G725V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGATTGCCCCCTGGGCGAGC	0.547											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2173-2175)GGG>GTG		fibrocystin isoform 1							64.0	63.0	64.0					6																	51915060		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51915060C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2174G>T	6.37:g.51915060C>A	ENSP00000360158:p.Gly725Val		OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	981	PKHD1_uc003pai.2_Missense_Mutation_p.G725V	p.G725V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			22	2450	-	Lung NSC(77;0.0605)		725			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2174G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163747	0.78226	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88046	-2.13;-2.33	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.92296	0.7556	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91893	0.5525	10	0.54805	T	0.06	.	18.7049	0.91633	0.0:1.0:0.0:0.0	.	725;725	P08F94-2;P08F94	.;PKHD1_HUMAN	V	725	ENSP00000360158:G725V;ENSP00000341097:G725V	ENSP00000341097:G725V	G	-	2	0	PKHD1	52023019	0.961000	0.32948	0.957000	0.39632	0.849000	0.48306	2.384000	0.44362	2.667000	0.90743	0.655000	0.94253	GGG		0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	54	1	0	1.58986e-06	0.008291	1.96659e-06	11	54				
HCRTR2	3062	broad.mit.edu	37	6	55113565	55113565	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55113565G>C	ENST00000370862.3	+	2	688	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	118					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.E118Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATATCACTGAGACCTGGTT	0.428																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(352-354)GAG>CAG		orexin receptor 2							253.0	234.0	241.0					6																	55113565		2203	4299	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113565G>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.352G>C	6.37:g.55113565G>C	ENSP00000359899:p.Glu118Gln					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.E53Q	p.E118Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	667	+	Lung NSC(77;0.107)|Renal(3;0.122)		118			Extracellular (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.352G>C	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749398	0.89753	.	.	ENSG00000137252	ENST00000370862	T	0.19938	2.11	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.49513	1.565	0.80722	D	1	P;D	0.56035	0.804;0.974	P;P	0.62014	0.771;0.897	T	0.02232	-1.1191	10	0.16896	T	0.51	.	17.5534	0.87884	0.0:0.0:1.0:0.0	.	118;118	Q548Y0;O43614	.;OX2R_HUMAN	Q	118	ENSP00000359899:E118Q	ENSP00000359899:E118Q	E	+	1	0	HCRTR2	55221524	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.200000	0.70718	0.555000	0.69702	GAG		0.428	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			25	274	0	0	0	0.008361	0	25	274				
HCRTR2	3062	broad.mit.edu	37	6	55145212	55145212	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55145212G>T	ENST00000370862.3	+	6	1411	c.1075G>T	c.(1075-1077)Gcg>Tcg	p.A359S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	359					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.A359S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAATAGTGCTGCGAATCCAAT	0.398																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(1075-1077)GCG>TCG		orexin receptor 2							178.0	171.0	173.0					6																	55145212		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55145212G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1075G>T	6.37:g.55145212G>T	ENSP00000359899:p.Ala359Ser					HCRTR2_uc010jzv.2_RNA	p.A359S	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	1390	+	Lung NSC(77;0.107)|Renal(3;0.122)		359			Helical; Name=7; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1075G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406856	0.83230	.	.	ENSG00000137252	ENST00000370862	T	0.37411	1.2	5.62	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.052490	0.85682	D	0.000000	T	0.36248	0.0960	L	0.58101	1.795	0.58432	D	0.999997	P	0.37688	0.605	P	0.48873	0.593	T	0.17715	-1.0360	10	0.40728	T	0.16	.	16.4042	0.83652	0.0:0.1318:0.8682:0.0	.	359	O43614	OX2R_HUMAN	S	359	ENSP00000359899:A359S	ENSP00000359899:A359S	A	+	1	0	HCRTR2	55253171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	1.336000	0.45506	0.585000	0.79938	GCG		0.398	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	116	1	0	4.68919e-08	0.008291	6.21436e-08	11	116				
COL21A1	81578	broad.mit.edu	37	6	55924961	55924961	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55924961C>A	ENST00000244728.5	-	28	2860	c.2463G>T	c.(2461-2463)ctG>ctT	p.L821L	COL21A1_ENST00000370819.1_Silent_p.L818L|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Silent_p.L821L|COL21A1_ENST00000370808.2_Intron	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	821			L -> P (in dbSNP:rs12209452).		extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L821L(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATGTTGGGACAGGCAATGAT	0.498																																							uc003pcs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2461-2463)CTG>CTT		collagen, type XXI, alpha 1 precursor							48.0	47.0	48.0					6																	55924961		1849	4089	5938	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55924961C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2463G>T	6.37:g.55924961C>A						COL21A1_uc010jzz.2_Silent_p.L206L|COL21A1_uc011dxg.1_Silent_p.L194L|COL21A1_uc011dxh.1_Intron|COL21A1_uc003pcr.2_Silent_p.L178L	p.L821L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		28	2695	-	Lung NSC(77;0.0483)		821					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.2463G>T	CCDS55025.1																																																																																				0.498	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			6	18	1	0	0.00448238	0.004482	0.00475543	6	18				
DST	667	broad.mit.edu	37	6	56371471	56371471	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:56371471T>A	ENST00000361203.3	-	71	18403	c.18396A>T	c.(18394-18396)atA>atT	p.I6132I	DST_ENST00000370769.4_Silent_p.I6243I|DST_ENST00000244364.6_Silent_p.I3829I|DST_ENST00000446842.2_Silent_p.I5917I|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I4155I|DST_ENST00000370754.5_Silent_p.I6421I|DST_ENST00000370788.2_Silent_p.I4046I			Q03001	DYST_HUMAN	dystonin	6128					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I6243I(1)|p.I3829I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACCTCATCTATACTCTTCT	0.358																																							uc003pdf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(12997-12999)ATA>ATT		dystonin isoform 2							116.0	111.0	113.0					6																	56371471		1866	4107	5973	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56371471T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18396A>T	6.37:g.56371471T>A						DST_uc003pcz.3_Silent_p.I4155I|DST_uc011dxj.1_Silent_p.I4184I|DST_uc011dxk.1_Silent_p.I4195I|DST_uc003pcy.3_Silent_p.I3829I	p.I4333I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		70	13027	-	Lung NSC(77;0.103)		6241			Spectrin 13.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.12999A>T																																																																																					0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	48	0	0	0	0.009096	0	4	48				
DST	667	broad.mit.edu	37	6	56504070	56504070	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:56504070C>A	ENST00000361203.3	-	18	2325	c.2318G>T	c.(2317-2319)cGg>cTg	p.R773L	DST_ENST00000370769.4_Missense_Mutation_p.R773L|DST_ENST00000244364.6_Missense_Mutation_p.R447L|DST_ENST00000446842.2_Missense_Mutation_p.R447L|DST_ENST00000518935.1_Missense_Mutation_p.R447L|DST_ENST00000312431.6_Missense_Mutation_p.R773L|DST_ENST00000370765.6_Missense_Mutation_p.R447L|DST_ENST00000421834.2_Missense_Mutation_p.R773L|DST_ENST00000370754.5_Missense_Mutation_p.R951L|DST_ENST00000370788.2_Missense_Mutation_p.R773L			Q03001	DYST_HUMAN	dystonin	773					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R447L(3)|p.R773L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATAGTTAACCGGGCTGGATG	0.338																																							uc003pdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2851-2853)CGG>CTG		dystonin isoform 2							110.0	103.0	105.0					6																	56504070		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504070C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2318G>T	6.37:g.56504070C>A	ENSP00000354508:p.Arg773Leu					DST_uc003pcz.3_Missense_Mutation_p.R773L|DST_uc011dxj.1_Missense_Mutation_p.R802L|DST_uc011dxk.1_Missense_Mutation_p.R813L|DST_uc011dxl.1_Missense_Mutation_p.R802L|DST_uc003pcy.3_Missense_Mutation_p.R447L|DST_uc003pdb.2_Missense_Mutation_p.R447L|DST_uc003pdc.3_Missense_Mutation_p.R447L|DST_uc003pdd.3_Missense_Mutation_p.R447L|DST_uc003pde.2_Missense_Mutation_p.R889L	p.R951L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		21	2880	-	Lung NSC(77;0.103)		773			Spectrin 1.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2852G>T		.	.	.	.	.	.	.	.	.	.	C	18.84	3.708915	0.68615	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.51	4.64	0.57946	.	0.000000	0.44285	D	0.000473	D	0.93380	0.7889	L	0.58101	1.795	0.36269	D	0.855063	D;P;D;P;D;P;D;D;B;P	0.76494	0.977;0.476;0.992;0.806;0.986;0.783;0.968;0.999;0.296;0.826	P;P;D;P;P;P;P;D;B;P	0.77557	0.622;0.458;0.976;0.555;0.79;0.478;0.88;0.99;0.176;0.577	D	0.93497	0.6841	9	0.46703	T	0.11	.	14.5065	0.67755	0.0:0.929:0.0:0.071	.	802;773;773;951;889;447;447;447;773;447	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	L	447;951;773;773;447;773;773;773;447;813;447;447	ENSP00000244364:R447L;ENSP00000359790:R951L;ENSP00000359805:R773L;ENSP00000400883:R773L;ENSP00000393645:R447L;ENSP00000307959:R773L;ENSP00000359824:R773L;ENSP00000354508:R773L;ENSP00000404924:R447L;ENSP00000431030:R813L;ENSP00000359801:R447L;ENSP00000431003:R447L	ENSP00000244364:R447L	R	-	2	0	DST	56612029	1.000000	0.71417	0.687000	0.30102	0.791000	0.44710	4.015000	0.57152	1.452000	0.47756	0.585000	0.79938	CGG		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	41	1	0	0.00116845	0.001168	0.00126555	5	41				
PRIM2	5558	broad.mit.edu	37	6	57512670	57512670	+	3'UTR	SNP	G	G	A	rs536855519		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:57512670G>A	ENST00000389488.2	+	0	1585				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.G500R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGATATGGAAGGACTAGAGGA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18912	0.0		0.0	False		,,,				2504	0.0						uc003pdx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)GGA>AGA		DNA primase polypeptide 2							374.0	363.0	367.0					6																	57512670		1932	4141	6073	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512670G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1582G>A	6.37:g.57512670G>A							p.G500R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1585	+			500					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1498G>A																																																																																					0.403	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		27	450	0	0	0	0.007835	0	27	450				
COL9A1	1297	broad.mit.edu	37	6	70948970	70948970	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:70948970C>T	ENST00000357250.6	-	33	2257	c.2099G>A	c.(2098-2100)gGc>gAc	p.G700D	COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.G457D|COL9A1_ENST00000320755.7_Missense_Mutation_p.G457D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	700	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.G457D(1)|p.G700D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCTTTGGGCCAGGTAATCC	0.259																																							uc003pfg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2098-2100)GGC>GAC		alpha 1 type IX collagen isoform 1 precursor							59.0	64.0	62.0					6																	70948970		2203	4296	6499	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70948970C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2099G>A	6.37:g.70948970C>T	ENSP00000349790:p.Gly700Asp					COL9A1_uc003pfe.3_Missense_Mutation_p.G249D|COL9A1_uc003pff.3_Missense_Mutation_p.G457D	p.G700D	NM_001851	NP_001842	P20849	CO9A1_HUMAN			33	2258	-			700			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.2099G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234218	0.58886	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99353	-5.77;-5.77;-5.77	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.96805	3.885	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.906	D;D;P	0.97110	1.0;1.0;0.553	D	0.97546	1.0089	10	0.87932	D	0	.	19.6531	0.95825	0.0:1.0:0.0:0.0	.	700;457;249	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	D	700;457;457	ENSP00000349790:G700D;ENSP00000315252:G457D;ENSP00000359530:G457D	ENSP00000315252:G457D	G	-	2	0	COL9A1	71005691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.943000	0.63554	2.715000	0.92844	0.650000	0.86243	GGC		0.259	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			5	49	0	0	0	0.001984	0	5	49				
DDX43	55510	broad.mit.edu	37	6	74116137	74116137	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:74116137C>A	ENST00000370336.4	+	7	1016	c.858C>A	c.(856-858)gcC>gcA	p.A286A	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	286	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.A286A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGGAGTAGCCCAGACTGGAA	0.403																																							uc003pgw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(856-858)GCC>GCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							130.0	117.0	121.0					6																	74116137		2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74116137C>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.858C>A	6.37:g.74116137C>A						DDX43_uc011dyn.1_RNA	p.A286A	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			7	1202	+			286			ATP (By similarity).|Helicase ATP-binding.		B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.858C>A	CCDS4977.1																																																																																				0.403	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		6	82	1	0	0.00116845	0.001168	0.00126555	6	82				
LCA5	167691	broad.mit.edu	37	6	80197277	80197277	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:80197277T>A	ENST00000392959.1	-	9	2149	c.1538A>T	c.(1537-1539)gAa>gTa	p.E513V	LCA5_ENST00000369846.4_Missense_Mutation_p.E513V	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	513					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E513V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTCTGAGGATTCAGAGAACCT	0.398																																							uc003pix.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)GAA>GTA		Leber congenital amaurosis 5							120.0	121.0	121.0					6																	80197277		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197277T>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1538A>T	6.37:g.80197277T>A	ENSP00000376686:p.Glu513Val					LCA5_uc003piy.2_Missense_Mutation_p.E513V	p.E513V	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	1973	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	513					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1538A>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761548	0.31228	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.36157	1.27;1.27	5.94	2.3	0.28687	.	0.659768	0.15860	N	0.241066	T	0.35885	0.0947	M	0.72118	2.19	0.09310	N	0.999998	D	0.57257	0.979	P	0.58454	0.839	T	0.12091	-1.0561	10	0.87932	D	0	-4.3241	9.0271	0.36236	0.0:0.2102:0.0:0.7898	.	513	Q86VQ0	LCA5_HUMAN	V	513	ENSP00000358861:E513V;ENSP00000376686:E513V	ENSP00000358861:E513V	E	-	2	0	LCA5	80253996	0.948000	0.32251	0.015000	0.15790	0.043000	0.13939	1.900000	0.39828	0.490000	0.27771	0.482000	0.46254	GAA		0.398	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		10	138	0	0	0	0.006214	0	10	138				
TTK	7272	broad.mit.edu	37	6	80746240	80746240	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:80746240G>T	ENST00000369798.2	+	17	2084	c.1973G>T	c.(1972-1974)gGa>gTa	p.G658V	TTK_ENST00000509894.1_Missense_Mutation_p.G657V|TTK_ENST00000230510.3_Missense_Mutation_p.G657V	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	658	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G642V(1)|p.G658V(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGTTGATGGAATGCTAAAG	0.328																																							uc003pjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1972-1974)GGA>GTA		TTK protein kinase							168.0	161.0	163.0					6																	80746240		2202	4300	6502	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80746240G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1973G>T	6.37:g.80746240G>T	ENSP00000358813:p.Gly658Val					TTK_uc003pjb.3_Missense_Mutation_p.G657V	p.G658V	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	17	2047	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	658			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1973G>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105345	0.77096	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.78246	-1.16;-1.16;-1.16	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047188	0.85682	D	0.000000	D	0.86948	0.6056	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75020	0.985;0.951	D	0.86910	0.2060	10	0.87932	D	0	-26.9243	19.6603	0.95864	0.0:0.0:1.0:0.0	.	658;657	P33981;A8K8U5	TTK_HUMAN;.	V	657;657;658	ENSP00000422936:G657V;ENSP00000230510:G657V;ENSP00000358813:G658V	ENSP00000230510:G657V	G	+	2	0	TTK	80802959	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.726000	0.68515	2.894000	0.99253	0.591000	0.81541	GGA		0.328	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			6	69	1	0	2.0095e-06	0.001984	2.47478e-06	6	69				
TBX18	9096	broad.mit.edu	37	6	85470001	85470001	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:85470001T>A	ENST00000369663.5	-	3	908	c.571A>T	c.(571-573)Att>Ttt	p.I191F	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.I33F	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	191					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.I191F(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)		ACTGGTACAATATCCATGGCA	0.383																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(571-573)ATT>TTT		T-box 18							103.0	93.0	97.0					6																	85470001		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85470001T>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.571A>T	6.37:g.85470001T>A	ENSP00000358677:p.Ile191Phe					TBX18_uc010kbq.1_Missense_Mutation_p.I33F	p.I191F	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	3	571	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	191			T-box.		A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.571A>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625386	0.87560	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.79845	-1.31	6.03	6.03	0.97812	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81168	0.4766	L	0.37897	1.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.79480	-0.1786	10	0.27785	T	0.31	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	107;191	Q8IW86;O95935	.;TBX18_HUMAN	F	106;191	ENSP00000358677:I191F	ENSP00000358677:I191F	I	-	1	0	TBX18	85526720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	ATT		0.383	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		4	29	0	0	0	0.009096	0	4	29				
HTR1E	3354	broad.mit.edu	37	6	87725346	87725346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87725346G>A	ENST00000305344.5	+	2	997	c.294G>A	c.(292-294)tgG>tgA	p.W98*		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	98	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.W98*(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTGAGGTGTGGCTGAGTGTGG	0.562																																							uc003pli.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(292-294)TGG>TGA		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						141.0	117.0	125.0					6																	87725346		2203	4300	6503	SO:0001587	stop_gained	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725346G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.294G>A	6.37:g.87725346G>A	ENSP00000307766:p.Trp98*						p.W98*	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	997	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	98			Helical; Name=3; (By similarity).		E1P503|Q9P1Y1	Nonsense_Mutation	SNP	ENST00000305344.5	37	c.294G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	39	7.648211	0.98409	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000307766:W98X	W	+	3	0	HTR1E	87782065	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.219000	0.95173	2.085000	0.62840	0.404000	0.27445	TGG		0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		11	117	0	0	0	0.000978	0	11	117				
CGA	1081	broad.mit.edu	37	6	87796106	87796106	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87796106C>A	ENST00000369582.2	-	3	235	c.135G>T	c.(133-135)ccG>ccT	p.P45P	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	45					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P45P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTGGGGCACCCGGCTGGGAGA	0.458																																							uc003plj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(133-135)CCG>CCT		glycoprotein hormones, alpha polypeptide							117.0	125.0	122.0					6																	87796106		2203	4300	6503	SO:0001819	synonymous_variant	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796106C>A	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.135G>T	6.37:g.87796106C>A							p.P45P	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	236	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	45						Silent	SNP	ENST00000369582.2	37	c.135G>T	CCDS5007.1																																																																																				0.458	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		31	142	1	0	2.80507e-11	0.002445	4.2012e-11	31	142				
ZNF292	23036	broad.mit.edu	37	6	87969756	87969756	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87969756G>T	ENST00000369577.3	+	8	6452	c.6409G>T	c.(6409-6411)Gct>Tct	p.A2137S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2132S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2137						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A2137S(1)|p.A1992S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCATTACCAGGCTGTACACAA	0.408																																							uc003plm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6409-6411)GCT>TCT		zinc finger protein 292							87.0	86.0	87.0					6																	87969756		1892	4109	6001	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969756G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6409G>T	6.37:g.87969756G>T	ENSP00000358590:p.Ala2137Ser						p.A2137S	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6450	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2137			C2H2-type 11.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6409G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803646	0.90623	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.41400	1.0;1.0	5.54	5.54	0.83059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.41236	1.265	0.50171	D	0.99985	D	0.67145	0.996	P	0.61070	0.883	T	0.47169	-0.9138	10	0.66056	D	0.02	.	19.4685	0.94952	0.0:0.0:1.0:0.0	.	2137	O60281	ZN292_HUMAN	S	2137;2132	ENSP00000358590:A2137S;ENSP00000342847:A2132S	ENSP00000342847:A2132S	A	+	1	0	ZNF292	88026475	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.601000	0.87937	0.591000	0.81541	GCT		0.408	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	70	1	0	0.000157383	0.00308	0.000177598	7	70				
BACH2	60468	broad.mit.edu	37	6	90661411	90661411	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:90661411A>G	ENST00000257749.4	-	7	1121	c.414T>C	c.(412-414)gaT>gaC	p.D138D	BACH2_ENST00000537989.1_Silent_p.D138D|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.D138D	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.D138D(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAACAGGCCATCCTCACTGT	0.602																																							uc011eab.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(412-414)GAT>GAC		BTB and CNC homology 1, basic leucine zipper							63.0	56.0	58.0					6																	90661411		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661411A>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.414T>C	6.37:g.90661411A>G						BACH2_uc003pnw.2_Silent_p.D138D|BACH2_uc010kch.2_Silent_p.D138D	p.D138D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1223	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	138					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.414T>C	CCDS5026.1																																																																																				0.602	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		6	67	0	0	0	0.001984	0	6	67				
GRIK2	2898	broad.mit.edu	37	6	102483357	102483357	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:102483357G>C	ENST00000421544.1	+	14	2717	c.2227G>C	c.(2227-2229)Gag>Cag	p.E743Q	GRIK2_ENST00000318991.6_Missense_Mutation_p.E743Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E667Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.E743Q|GRIK2_ENST00000369138.1_Missense_Mutation_p.E743Q|GRIK2_ENST00000369134.4_Missense_Mutation_p.E694Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	743					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.E743Q(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)	AACAACCATCGAGTTTGTTAC	0.473																																							uc003pqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2227-2229)GAG>CAG		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						183.0	185.0	184.0					6																	102483357		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.chr6:102483357G>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2227G>C	6.37:g.102483357G>C	ENSP00000397026:p.Glu743Gln					GRIK2_uc003pqo.3_Missense_Mutation_p.E743Q|GRIK2_uc010kcw.2_Missense_Mutation_p.E743Q	p.E743Q	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)	14	2476	+		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)	743			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2227G>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179462	0.94846	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.54863	1.705	0.58432	D	0.999998	D;D;D	0.69078	0.996;0.997;0.996	D;D;D	0.67231	0.939;0.95;0.939	T	0.01287	-1.1395	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	743;743;743	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	Q	743;743;743;667;743;694;518	ENSP00000397026:E743Q;ENSP00000405596:E743Q;ENSP00000358134:E743Q;ENSP00000358133:E667Q;ENSP00000313276:E743Q;ENSP00000358130:E694Q	ENSP00000313276:E743Q	E	+	1	0	GRIK2	102590050	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	GAG		0.473	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			14	174	0	0	0	0.00245	0	14	174				
LAMA4	3910	broad.mit.edu	37	6	112476088	112476088	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:112476088T>C	ENST00000230538.7	-	16	2418	c.2021A>G	c.(2020-2022)aAt>aGt	p.N674S	RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.N667S|LAMA4_ENST00000424408.2_Missense_Mutation_p.N667S|LAMA4_ENST00000389463.4_Missense_Mutation_p.N667S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	674	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N667S(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGGCTTGATTGAGGAGGTT	0.398																																							uc003pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2020-2022)AAT>AGT		laminin, alpha 4 isoform 1 precursor							196.0	190.0	192.0					6																	112476088		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476088T>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2021A>G	6.37:g.112476088T>C	ENSP00000230538:p.Asn674Ser					LAMA4_uc003pvv.2_Missense_Mutation_p.N667S|LAMA4_uc003pvt.2_Missense_Mutation_p.N667S	p.N674S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	16	2330	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	674			Domain II and I.|Potential.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2021A>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419269	0.42918	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.14022	2.55;2.54;2.54;2.54	5.17	-2.09	0.07232	.	0.554792	0.21960	N	0.066616	T	0.01870	0.0059	N	0.12182	0.205	0.43203	D	0.99505	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40175	-0.9577	10	0.26408	T	0.33	.	6.5925	0.22654	0.2213:0.4981:0.0:0.2806	.	674;667	Q16363;Q16363-2	LAMA4_HUMAN;.	S	674;667;667;667	ENSP00000230538:N674S;ENSP00000429488:N667S;ENSP00000374114:N667S;ENSP00000416470:N667S	ENSP00000230538:N674S	N	-	2	0	LAMA4	112582781	0.147000	0.22687	0.966000	0.40874	0.996000	0.88848	-1.111000	0.03303	-0.199000	0.10317	0.482000	0.46254	AAT		0.398	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	110	0	0	0	0.007413	0	17	110				
ROS1	6098	broad.mit.edu	37	6	117704587	117704587	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:117704587C>A	ENST00000368508.3	-	16	2587	c.2389G>T	c.(2389-2391)Gtt>Ttt	p.V797F	ROS1_ENST00000368507.3_Missense_Mutation_p.V792F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	797					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V797F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATCCACCAACTGAATCCACC	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2389-2391)GTT>TTT		proto-oncogene c-ros-1 protein precursor							236.0	214.0	221.0					6																	117704587		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704587C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2389G>T	6.37:g.117704587C>A	ENSP00000357494:p.Val797Phe					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V797F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2588	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	797			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2389G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261333	0.59431	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91237	-2.81;-2.81	4.57	2.64	0.31445	.	0.275088	0.25375	N	0.031127	T	0.70237	0.3201	N	0.19112	0.55	0.58432	D	0.999996	P	0.40476	0.718	B	0.36885	0.235	T	0.72510	-0.4271	10	0.59425	D	0.04	.	5.0773	0.14638	0.167:0.6492:0.0:0.1838	.	797	P08922	ROS1_HUMAN	F	797;792	ENSP00000357494:V797F;ENSP00000357493:V792F	ENSP00000357493:V792F	V	-	1	0	ROS1	117811280	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	0.027000	0.13621	1.062000	0.40625	-0.136000	0.14681	GTT		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			10	224	1	0	1.08611e-07	0.000978	1.42024e-07	10	224				
NCOA7	135112	broad.mit.edu	37	6	126203632	126203632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:126203632G>A	ENST00000368357.3	+	8	986	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	NCOA7_ENST00000229634.9_Missense_Mutation_p.E108K|NCOA7_ENST00000392477.2_Missense_Mutation_p.E212K	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	212					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.E212K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTCTACTTCTGAAGAAGATGA	0.353																																							uc010kes.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(634-636)GAA>AAA		nuclear receptor coactivator 7 isoform 1							49.0	47.0	48.0					6																	126203632		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126203632G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.634G>A	6.37:g.126203632G>A	ENSP00000357341:p.Glu212Lys					NCOA7_uc003qae.3_Missense_Mutation_p.E212K|NCOA7_uc003qah.2_Missense_Mutation_p.E212K|NCOA7_uc003qai.2_Missense_Mutation_p.E212K|NCOA7_uc010ket.2_Missense_Mutation_p.E108K|NCOA7_uc003qaf.2_Missense_Mutation_p.E212K|NCOA7_uc003qag.2_Missense_Mutation_p.E212K	p.E212K	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	9	1083	+			212					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.634G>A	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	36	5.808699	0.96967	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.43294	2.35;2.35;2.39;0.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.991	D;D;D;D	0.91635	0.999;0.998;0.994;0.971	T	0.61973	-0.6952	10	0.66056	D	0.02	-0.3126	20.0344	0.97551	0.0:0.0:1.0:0.0	.	212;212;212;212	B3KXK4;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	K	212;212;108;21	ENSP00000357341:E212K;ENSP00000376269:E212K;ENSP00000229634:E108K;ENSP00000389186:E21K	ENSP00000229634:E108K	E	+	1	0	NCOA7	126245325	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.774000	0.98992	2.803000	0.96430	0.650000	0.86243	GAA		0.353	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		6	40	0	0	0	0.00308	0	6	40				
ECHDC1	55862	broad.mit.edu	37	6	127611311	127611311	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:127611311G>C	ENST00000531967.1	-	6	1130	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.L203L|ECHDC1_ENST00000309620.9_Silent_p.L186L|ECHDC1_ENST00000454591.2_Silent_p.L128L|ECHDC1_ENST00000474289.2_Silent_p.L203L|ECHDC1_ENST00000430841.2_Silent_p.L203L|ECHDC1_ENST00000368291.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	209						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.L209L(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TCAACACTTTGAGAGCTTGTC	0.438																																							uc003qax.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)CTC>CTG		enoyl Coenzyme A hydratase domain containing 1							110.0	102.0	104.0					6																	127611311		1848	4083	5931	SO:0001819	synonymous_variant	55862						catalytic activity	g.chr6:127611311G>C	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.627C>G	6.37:g.127611311G>C						ECHDC1_uc003qaz.3_Silent_p.L203L|ECHDC1_uc010key.2_Silent_p.L128L|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	p.L209L	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	663	-			209					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Silent	SNP	ENST00000531967.1	37	c.627C>G	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	G	9.074	0.997511	0.19043	.	.	ENSG00000093144	ENST00000436638;ENST00000460558	.	.	.	5.65	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7869	0.08704	0.1337:0.2399:0.5028:0.1237	.	.	.	.	X	217;82	.	.	S	-	2	0	ECHDC1	127653004	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.474000	0.22148	0.316000	0.23135	0.655000	0.94253	TCA		0.438	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			9	117	0	0	0	0.004482	0	9	117				
C6orf58	352999	broad.mit.edu	37	6	127898540	127898540	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:127898540G>C	ENST00000329722.7	+	1	222	c.210G>C	c.(208-210)caG>caC	p.Q70H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	70						extracellular vesicular exosome (GO:0070062)		p.Q70H(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TATTGAATCAGACAGCCAGGT	0.413																																							uc003qbh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(208-210)CAG>CAC		hypothetical protein LOC352999 precursor							105.0	111.0	109.0					6																	127898540		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127898540G>C	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.210G>C	6.37:g.127898540G>C	ENSP00000328069:p.Gln70His						p.Q70H	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	1	222	+			70					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.210G>C	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760884	0.31137	.	.	ENSG00000184530	ENST00000329722	T	0.44881	0.91	5.24	1.25	0.21368	.	0.605539	0.17351	N	0.177408	T	0.31263	0.0791	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.64877	0.93	T	0.04165	-1.0972	10	0.51188	T	0.08	-5.3814	6.3987	0.21626	0.2486:0.2729:0.4785:0.0	.	70	Q6P5S2	CF058_HUMAN	H	70	ENSP00000328069:Q70H	ENSP00000328069:Q70H	Q	+	3	2	C6orf58	127940233	0.000000	0.05858	0.923000	0.36655	0.398000	0.30690	-0.959000	0.03853	0.615000	0.30124	0.655000	0.94253	CAG		0.413	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		16	113	0	0	0	0.004007	0	16	113				
TMEM200A	114801	broad.mit.edu	37	6	130761606	130761606	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:130761606C>A	ENST00000296978.3	+	3	910	c.39C>A	c.(37-39)gcC>gcA	p.A13A	TMEM200A_ENST00000392429.1_Silent_p.A13A|TMEM200A_ENST00000545622.1_Silent_p.A13A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	13						integral component of membrane (GO:0016021)		p.A13A(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)		GCCTGGCCGCCTTGAAAAGGC	0.502																																							uc003qca.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(37-39)GCC>GCA		transmembrane protein 200A							94.0	102.0	99.0					6																	130761606		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130761606C>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.39C>A	6.37:g.130761606C>A						TMEM200A_uc010kfh.2_Silent_p.A13A|TMEM200A_uc010kfi.2_Silent_p.A13A|TMEM200A_uc003qcb.2_Silent_p.A13A	p.A13A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	910	+			13			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.39C>A	CCDS5140.1																																																																																				0.502	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		39	160	1	0	9.73076e-26	0.006999	1.83606e-25	39	160				
TMEM200A	114801	broad.mit.edu	37	6	130762699	130762699	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:130762699G>T	ENST00000296978.3	+	3	2003	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	TMEM200A_ENST00000392429.1_Missense_Mutation_p.A378S|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A378S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	378						integral component of membrane (GO:0016021)		p.A378S(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)		TCCTGGGGCTGCCAGAAGACA	0.527																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1132-1134)GCC>TCC		transmembrane protein 200A							74.0	75.0	74.0					6																	130762699		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762699G>T	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.1132G>T	6.37:g.130762699G>T	ENSP00000296978:p.Ala378Ser					TMEM200A_uc010kfh.2_Missense_Mutation_p.A378S|TMEM200A_uc010kfi.2_Missense_Mutation_p.A378S|TMEM200A_uc003qcb.2_Missense_Mutation_p.A378S	p.A378S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	2003	+			378			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1132G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180284	0.78677	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	6.07	0.98685	.	0.051457	0.85682	D	0.000000	T	0.54498	0.1862	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.47005	-0.9150	9	0.22706	T	0.39	-21.0079	20.6593	0.99626	0.0:0.0:1.0:0.0	.	378	Q86VY9	T200A_HUMAN	S	378	.	ENSP00000296978:A378S	A	+	1	0	TMEM200A	130804392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.885000	0.99019	0.655000	0.94253	GCC		0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		17	49	1	0	4.7546e-09	0.004007	6.5434e-09	17	49				
EPB41L2	2037	broad.mit.edu	37	6	131201331	131201331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:131201331C>A	ENST00000337057.3	-	13	2030	c.1849G>T	c.(1849-1851)Gta>Tta	p.V617L	EPB41L2_ENST00000368128.2_Missense_Mutation_p.V617L|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.V16L|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.V16L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	617	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.V617L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCCCTTCTACTCTCAAGGAA	0.388																																							uc003qch.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1849-1851)GTA>TTA		erythrocyte membrane protein band 4.1-like 2							74.0	73.0	74.0					6																	131201331		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131201331C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1849G>T	6.37:g.131201331C>A	ENSP00000338481:p.Val617Leu					EPB41L2_uc003qce.1_Intron|EPB41L2_uc003qcf.1_RNA|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Intron|EPB41L2_uc003qcj.1_5'Flank	p.V617L	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	13	2031	-	Breast(56;0.0639)		617			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1849G>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.65|13.65	2.299048|2.299048	0.40694|0.40694	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000531410;ENST00000337057;ENST00000530757;ENST00000368128;ENST00000527423	.|T;D;T;D	.|0.81996	.|-1.06;-1.56;-1.07;-1.56	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.412228	.|0.25302	.|N	.|0.031650	T|T	0.67822|0.67822	0.2934|0.2934	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|B	.|0.31581	.|0.329	.|B	.|0.27887	.|0.084	T|T	0.65537|0.65537	-0.6144|-0.6144	5|10	.|0.11485	.|T	.|0.65	.|.	13.2287|13.2287	0.59929|0.59929	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	.|617	.|O43491	.|E41L2_HUMAN	I|L	107|16;617;16;617;16	.|ENSP00000434596:V16L;ENSP00000338481:V617L;ENSP00000436349:V16L;ENSP00000357110:V617L	.|ENSP00000338481:V617L	S|V	-|-	2|1	0|0	EPB41L2|EPB41L2	131243024|131243024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.916000|2.916000	0.48813|0.48813	2.731000|2.731000	0.93534|0.93534	0.591000|0.591000	0.81541|0.81541	AGT|GTA		0.388	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			12	42	1	0	3.07112e-06	0.000978	3.73776e-06	12	42				
MED23	9439	broad.mit.edu	37	6	131917827	131917827	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:131917827G>C	ENST00000368068.3	-	21	2788	c.2609C>G	c.(2608-2610)gCc>gGc	p.A870G	MED23_ENST00000354577.4_Splice_Site_p.A876G|MED23_ENST00000545957.1_Splice_Site_p.A511G|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368058.1_Splice_Site_p.A876G|MED23_ENST00000368060.3_Splice_Site_p.A870G|MED23_ENST00000403834.3_Splice_Site_p.A876G	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	870					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.A870G(1)|p.A876G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTACGCATGGCCTTTGAAAA	0.343																																							uc003qcs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2608-2610)GCC>GGC		mediator complex subunit 23 isoform a							54.0	54.0	54.0					6																	131917827		2203	4300	6503	SO:0001630	splice_region_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917827G>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2608-1C>G	6.37:g.131917827G>C						MED23_uc003qcq.2_Missense_Mutation_p.A876G|MED23_uc011eca.1_Missense_Mutation_p.A511G	p.A870G	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	21	2783	-	Breast(56;0.0753)		870					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2609C>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453391	0.96223	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	L	0.59436	1.845	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.99	D;D;P	0.63381	0.914;0.914;0.861	D	0.84048	0.0368	10	0.87932	D	0	1.5337	20.8794	0.99867	0.0:0.0:1.0:0.0	.	511;870;876	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	G	876;870;876;870;876;511	ENSP00000346588:A876G;ENSP00000357047:A870G;ENSP00000384536:A876G;ENSP00000357039:A870G;ENSP00000357037:A876G;ENSP00000439977:A511G	ENSP00000346588:A876G	A	-	2	0	MED23	131959520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCC		0.343	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Missense_Mutation	9	47	0	0	0	0.008291	0	9	47				
TAAR8	83551	broad.mit.edu	37	6	132874334	132874334	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:132874334A>T	ENST00000275200.1	+	1	503	c.503A>T	c.(502-504)tAc>tTc	p.Y168F		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	168					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.Y168F(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GCTGTGTTCTACACAGGTGTC	0.493																																							uc011ecj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)TAC>TTC		trace amine associated receptor 8							307.0	296.0	300.0					6																	132874334		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874334A>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.503A>T	6.37:g.132874334A>T	ENSP00000275200:p.Tyr168Phe						p.Y168F	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	503	+	Breast(56;0.112)		168			Extracellular (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.503A>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	A	0.043	-1.276680	0.01410	.	.	ENSG00000146385	ENST00000275200	T	0.33216	1.42	4.72	-0.935	0.10423	GPCR, rhodopsin-like superfamily (1);	0.376239	0.21450	N	0.074349	T	0.04318	0.0119	L	0.28504	0.86	0.09310	N	0.999999	B	0.09022	0.002	B	0.17979	0.02	T	0.42327	-0.9458	10	0.05620	T	0.96	-3.2865	5.9747	0.19371	0.2583:0.3502:0.0:0.3914	.	168	Q969N4	TAAR8_HUMAN	F	168	ENSP00000275200:Y168F	ENSP00000275200:Y168F	Y	+	2	0	TAAR8	132916027	0.000000	0.05858	0.981000	0.43875	0.178000	0.23041	-0.337000	0.07852	-0.218000	0.10018	0.533000	0.62120	TAC		0.493	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		17	250	0	0	0	0.004007	0	17	250				
ADAT2	134637	broad.mit.edu	37	6	143759805	143759805	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:143759805T>A	ENST00000237283.8	-	2	137	c.123A>T	c.(121-123)gaA>gaT	p.E41D	ADAT2_ENST00000606514.1_De_novo_Start_OutOfFrame|AL031320.1_ENST00000595616.1_Intron	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	41					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)	p.E41D(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CAACAGGAACTTCAGTATTTT	0.393																																							uc003qjj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GAA>GAT		deaminase domain containing 1							175.0	156.0	162.0					6																	143759805		1865	4101	5966	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143759805T>A	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.123A>T	6.37:g.143759805T>A	ENSP00000237283:p.Glu41Asp					ADAT2_uc003qjk.1_RNA	p.E41D	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	2	169	-			41					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.123A>T	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036425	0.75617	.	.	ENSG00000189007	ENST00000237283	T	0.44881	0.91	5.89	3.51	0.40186	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51124	-0.8745	10	0.72032	D	0.01	-21.8479	8.4342	0.32778	0.0:0.298:0.0:0.702	.	41	Q7Z6V5	ADAT2_HUMAN	D	41	ENSP00000237283:E41D	ENSP00000237283:E41D	E	-	3	2	ADAT2	143801498	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	0.725000	0.25970	0.495000	0.27882	0.460000	0.39030	GAA		0.393	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		8	77	0	0	0	0.000978	0	8	77				
UTRN	7402	broad.mit.edu	37	6	144758883	144758883	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:144758883G>T	ENST00000367545.3	+	10	1241		c.e10+1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGTCCCGGTGAGTGGAAA	0.473																																							uc003qkt.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.e10+1		utrophin							88.0	76.0	80.0					6																	144758883		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758883G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1241+1G>T	6.37:g.144758883G>T						UTRN_uc010khq.1_Splice_Site_p.R414_splice	p.R414_splice	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1333	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.1241_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362528	0.82353	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.45	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6759	0.77321	0.0:0.0:0.862:0.138	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	144800576	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	1.292000	0.44672	0.655000	0.94253	.		0.473	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	5	90	1	0	0.000157383	0.00308	0.000177598	5	90				
GRM1	2911	broad.mit.edu	37	6	146720447	146720447	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:146720447G>T	ENST00000282753.1	+	7	2507	c.2272G>T	c.(2272-2274)Ggc>Tgc	p.G758C	GRM1_ENST00000392299.2_Missense_Mutation_p.G758C|GRM1_ENST00000507907.1_Missense_Mutation_p.G758C|GRM1_ENST00000355289.4_Missense_Mutation_p.G758C|GRM1_ENST00000492807.2_Missense_Mutation_p.G758C|GRM1_ENST00000361719.2_Missense_Mutation_p.G758C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	758					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G758C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCCCCTTTGGGCTACAATGG	0.512																																							uc010khw.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2272-2274)GGC>TGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						131.0	128.0	129.0					6																	146720447		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720447G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2272G>T	6.37:g.146720447G>T	ENSP00000282753:p.Gly758Cys					GRM1_uc010khv.1_Missense_Mutation_p.G758C|GRM1_uc003qll.2_Missense_Mutation_p.G758C|GRM1_uc011edz.1_Missense_Mutation_p.G758C|GRM1_uc011eea.1_Missense_Mutation_p.G758C	p.G758C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2742	+		Ovarian(120;0.0387)	758			Helical; Name=5; (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2272G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418967	0.83559	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.53	5.53	0.82687	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.996	D	0.94492	0.7702	10	0.72032	D	0.01	.	19.4625	0.94922	0.0:0.0:1.0:0.0	.	758;758;758	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	758	ENSP00000354896:G758C;ENSP00000376119:G758C;ENSP00000424095:G758C;ENSP00000282753:G758C;ENSP00000347437:G758C;ENSP00000425599:G758C	ENSP00000282753:G758C	G	+	1	0	GRM1	146762140	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.599000	0.87857	0.585000	0.79938	GGC		0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		10	162	1	0	2.17888e-05	0.006214	2.56155e-05	10	162				
ULBP1	80329	broad.mit.edu	37	6	150289779	150289779	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:150289779C>T	ENST00000229708.3	+	2	165	c.122C>T	c.(121-123)cCt>cTt	p.P41L		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	41	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.P41L(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		ATCATCACTCCTAAGTCCAGA	0.493																																							uc003qnp.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(121-123)CCT>CTT		UL16 binding protein 1 precursor							119.0	117.0	118.0					6																	150289779		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150289779C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.122C>T	6.37:g.150289779C>T	ENSP00000229708:p.Pro41Leu						p.P41L	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	165	+		Ovarian(120;0.0907)	41			MHC class I alpha-1 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.122C>T	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	8.455	0.854050	0.17106	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00695	5.83;5.83	2.01	-1.32	0.09201	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00300	0.0009	L	0.33485	1.01	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.42207	-0.9465	9	0.59425	D	0.04	.	2.1303	0.03749	0.2494:0.4131:0.0:0.3375	.	41	Q9BZM6	N2DL1_HUMAN	L	41	ENSP00000356314:P41L;ENSP00000229708:P41L	ENSP00000229708:P41L	P	+	2	0	ULBP1	150331472	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.164000	0.09983	-0.391000	0.07763	-0.680000	0.03767	CCT		0.493	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			44	202	0	0	0	0.009718	0	44	202				
MTHFD1L	25902	broad.mit.edu	37	6	151265679	151265679	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:151265679G>T	ENST00000367321.3	+	14	1772	c.1498G>T	c.(1498-1500)Gct>Tct	p.A500S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	500	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.A500S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TAACTTGCTGGCTGCCGCCAT	0.423																																							uc003qob.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1498-1500)GCT>TCT		methylenetetrahydrofolate dehydrogenase (NADP+							49.0	46.0	47.0					6																	151265679		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151265679G>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1498G>T	6.37:g.151265679G>T	ENSP00000356290:p.Ala500Ser					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.A501S|MTHFD1L_uc003qoc.2_Missense_Mutation_p.A448S	p.A500S	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	14	1766	+		Ovarian(120;0.128)	500			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1498G>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398037	0.96030	.	.	ENSG00000120254	ENST00000367321	T	0.25912	1.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.97110	1.0;0.913;0.999	T	0.45071	-0.9286	10	0.66056	D	0.02	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	501;255;500	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	S	500	ENSP00000356290:A500S	ENSP00000356290:A500S	A	+	1	0	MTHFD1L	151307372	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.749000	0.98871	2.600000	0.87896	0.655000	0.94253	GCT		0.423	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		6	31	1	0	2.0095e-06	0.001984	2.47478e-06	6	31				
NOX3	50508	broad.mit.edu	37	6	155761165	155761165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:155761165G>T	ENST00000159060.2	-	6	695	c.593C>A	c.(592-594)gCc>gAc	p.A198D		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	198	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.A198D(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCATAGGAGGCCTGTCTGAT	0.507																																							uc003qqm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)GCC>GAC		NADPH oxidase 3							153.0	139.0	144.0					6																	155761165		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761165G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.593C>A	6.37:g.155761165G>T	ENSP00000159060:p.Ala198Asp						p.A198D	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	696	-		Breast(66;0.0183)	198			Ferric oxidoreductase.|Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.593C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200437	0.58126	.	.	ENSG00000074771	ENST00000159060	D	0.91894	-2.93	5.83	-6.68	0.01778	Flavoprotein transmembrane component (1);	1.362240	0.04592	N	0.396942	D	0.84561	0.5499	L	0.55103	1.725	0.23391	N	0.997773	B	0.32010	0.351	B	0.28465	0.09	T	0.70063	-0.4975	10	0.72032	D	0.01	-0.4142	21.8055	0.99961	0.1148:0.0:0.8852:0.0	.	198	Q9HBY0	NOX3_HUMAN	D	198	ENSP00000159060:A198D	ENSP00000159060:A198D	A	-	2	0	NOX3	155802857	0.002000	0.14202	0.146000	0.22360	0.913000	0.54294	0.170000	0.16663	-1.255000	0.02481	-0.300000	0.09419	GCC		0.507	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			12	80	1	0	1.5842e-08	0.001855	2.15163e-08	12	80				
LPA	4018	broad.mit.edu	37	6	160968856	160968856	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:160968856G>T	ENST00000316300.5	-	32	5313	c.5269C>A	c.(5269-5271)Cca>Aca	p.P1757T	LPA_ENST00000447678.1_Missense_Mutation_p.P1757T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4265	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.P1757T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTGTCCCTGGAATGAACGTG	0.493																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(5269-5271)CCA>ACA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						97.0	106.0	103.0					6																	160968856		2199	4300	6499	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160968856G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5269C>A	6.37:g.160968856G>T	ENSP00000321334:p.Pro1757Thr						p.P1757T	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	33	5389	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4265			Kringle 38.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5269C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	7.687	0.690252	0.15039	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65178	-0.14;-0.14	2.5	2.5	0.30297	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.67011	0.2848	M	0.75777	2.31	0.32963	D	0.521313	D	0.89917	1.0	D	0.87578	0.998	T	0.64795	-0.6323	9	0.51188	T	0.08	.	8.5552	0.33476	0.0:0.0:1.0:0.0	.	4265	P08519	APOA_HUMAN	T	1757	ENSP00000321334:P1757T;ENSP00000395608:P1757T	ENSP00000321334:P1757T	P	-	1	0	LPA	160888846	1.000000	0.71417	0.097000	0.21041	0.004000	0.04260	4.889000	0.63171	1.417000	0.47077	0.194000	0.17425	CCA		0.493	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		13	150	1	0	4.3838e-07	0.001855	5.56242e-07	13	150				
C6orf118	168090	broad.mit.edu	37	6	165711483	165711483	+	Silent	SNP	G	G	T	rs369222689		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:165711483G>T	ENST00000230301.8	-	5	1064	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	C6orf118_ENST00000543069.1_Silent_p.A244A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	348								p.A348A(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)		TCTGCTCCAGGGCTGCTTTTG	0.552																																							uc003qum.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)GCC>GCA		hypothetical protein LOC168090		G		0,4406		0,0,2203	176.0	145.0	155.0		1044	2.9	1.0	6		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C6orf118	NM_144980.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		348/470	165711483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165711483G>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.1044C>A	6.37:g.165711483G>T						C6orf118_uc011egi.1_RNA	p.A348A	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)	5	1080	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	348			Potential.		Q8TC11	Silent	SNP	ENST00000230301.8	37	c.1044C>A	CCDS5288.1																																																																																				0.552	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		32	164	1	0	6.48837e-15	0.002522	1.07394e-14	32	164				
PDE10A	10846	broad.mit.edu	37	6	165801829	165801829	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:165801829G>T	ENST00000366882.1	-	18	1894	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	PDE10A_ENST00000539869.2_Silent_p.T590T|PDE10A_ENST00000354448.4_Silent_p.T580T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	580					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.T580T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCTGCTCCATGGTGGAAGTGG	0.567																																					Esophageal Squamous(22;308 615 5753 12038 40624)	Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1738-1740)ACC>ACA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						147.0	121.0	130.0					6																	165801829		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801829G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1740C>A	6.37:g.165801829G>T						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.T510T|PDE10A_uc003quo.2_Silent_p.T590T	p.T580T	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1981	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	580					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1740C>A																																																																																					0.567	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			17	108	1	0	2.94398e-08	0.007413	3.93064e-08	17	108				
UNC93A	54346	broad.mit.edu	37	6	167711556	167711556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:167711556C>A	ENST00000230256.3	+	4	798	c.623C>A	c.(622-624)aCt>aAt	p.T208N	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T208N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCATCTACACTGGTACGAGC	0.592																																							uc003qvq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(622-624)ACT>AAT		unc-93 homolog A isoform 1							107.0	83.0	91.0					6																	167711556		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167711556C>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.623C>A	6.37:g.167711556C>A	ENSP00000230256:p.Thr208Asn					UNC93A_uc003qvr.2_Intron	p.T208N	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	4	798	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	208			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.623C>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036484	0.35893	.	.	ENSG00000112494	ENST00000230256	T	0.81163	-1.46	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);	0.051916	0.85682	D	0.000000	T	0.73297	0.3569	M	0.82517	2.595	0.80722	D	1	B	0.19073	0.033	B	0.21546	0.035	T	0.71932	-0.4443	10	0.16896	T	0.51	-25.375	15.8979	0.79350	0.0:1.0:0.0:0.0	.	208	Q86WB7	UN93A_HUMAN	N	208	ENSP00000230256:T208N	ENSP00000230256:T208N	T	+	2	0	UNC93A	167631546	0.989000	0.36119	0.941000	0.38009	0.409000	0.31022	2.738000	0.47401	2.406000	0.81754	0.655000	0.94253	ACT		0.592	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		26	106	1	0	2.81731e-10	0.002096	4.09488e-10	26	106				
PRKAR1B	5575	broad.mit.edu	37	7	591043	591043	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:591043C>G	ENST00000406797.1	-	10	1130	c.956G>C	c.(955-957)gGa>gCa	p.G319A	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.G319A|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.G319A|AC147651.2_ENST00000517177.1_RNA|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.G319A|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.G319A	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	319					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.G319A(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTCAGAGGGTCCCAGGCGCCC	0.677																																							uc003siu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(955-957)GGA>GCA		protein kinase, cAMP-dependent, regulatory, type							23.0	19.0	20.0					7																	591043		2128	4226	6354	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:591043C>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.956G>C	7.37:g.591043C>G	ENSP00000385749:p.Gly319Ala					PRKAR1B_uc003siv.2_Missense_Mutation_p.G319A|PRKAR1B_uc003siw.1_Missense_Mutation_p.G319A	p.G319A	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	11	1062	-		Ovarian(82;0.0779)	319			cAMP 2.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.956G>C	CCDS34579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.139013|2.139013	0.37728|0.37728	.|.	.|.	ENSG00000188191|ENSG00000188191	ENST00000400758|ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274	.|D;D;D;D;D	.|0.93488	.|-3.23;-3.23;-3.23;-3.23;-3.23	4.5|4.5	4.5|4.5	0.54988|0.54988	.|Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.92315|0.92315	0.7562|0.7562	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|B	.|0.24368	.|0.102	.|B	.|0.26310	.|0.068	D|D	0.91112|0.91112	0.4923|0.4923	5|10	.|0.59425	.|D	.|0.04	-0.0634|-0.0634	17.2034|17.2034	0.86912|0.86912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|319	.|P31321	.|KAP1_HUMAN	H|A	180|319	.|ENSP00000440449:G319A;ENSP00000444487:G319A;ENSP00000385749:G319A;ENSP00000385349:G319A;ENSP00000353415:G319A	.|ENSP00000353415:G319A	D|G	-|-	1|2	0|0	PRKAR1B|PRKAR1B	557569|557569	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.080000|0.080000	0.17528|0.17528	6.943000|6.943000	0.75934|0.75934	2.067000|2.067000	0.61834|0.61834	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.677	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			2	11	0	0	0	0.004672	0	2	11				
PSMG3	84262	broad.mit.edu	37	7	1608771	1608771	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:1608771C>A	ENST00000288607.2	-	1	858	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Missense_Mutation_p.G69W|PSMG3_ENST00000252329.3_Missense_Mutation_p.G69W	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	69								p.G69W(1)		lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TCATCCTGCCCCAGAAGGACT	0.607																																							uc003skx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GGG>TGG		proteasome assembling chaperone 3							71.0	71.0	71.0					7																	1608771		2201	4297	6498	SO:0001583	missense	84262							g.chr7:1608771C>A	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.205G>T	7.37:g.1608771C>A	ENSP00000288607:p.Gly69Trp					PSMG3_uc011jvx.1_Missense_Mutation_p.G69W|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	p.G69W	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	859	-		Ovarian(82;0.11)	69					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.205G>T	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077270	0.55753	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.43	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	M	0.85542	2.76	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.81204	-0.1039	9	0.87932	D	0	-39.7495	11.7841	0.52032	0.0:0.8566:0.0:0.1434	.	69	Q9BT73	PSMG3_HUMAN	W	69	.	ENSP00000252329:G69W	G	-	1	0	PSMG3	1575297	1.000000	0.71417	0.698000	0.30274	0.526000	0.34562	7.047000	0.76599	0.671000	0.31185	0.563000	0.77884	GGG		0.607	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		29	142	1	0	3.54909e-21	0.002852	6.44932e-21	29	142				
CHST12	55501	broad.mit.edu	37	7	2472659	2472659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:2472659C>T	ENST00000258711.6	+	2	520	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	129					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.R129W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCGTGCTGCGGGGCTTCTG	0.701																																							uc003smc.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(385-387)CGG>TGG		carbohydrate sulfotransferase 12							32.0	35.0	34.0					7																	2472659		2202	4300	6502	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472659C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.385C>T	7.37:g.2472659C>T	ENSP00000258711:p.Arg129Trp					CHST12_uc003smd.2_Missense_Mutation_p.R129W	p.R129W	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	520	+		Ovarian(82;0.0253)	129			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.385C>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001357	0.35320	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.64618	-0.11;0.72	5.09	-1.01	0.10169	.	0.309977	0.30890	N	0.008663	T	0.63474	0.2514	M	0.70595	2.14	0.39168	D	0.962536	D	0.71674	0.998	P	0.49829	0.623	T	0.67937	-0.5541	10	0.87932	D	0	-4.2506	10.2923	0.43603	0.6825:0.2465:0.0:0.071	.	129	Q9NRB3	CHSTC_HUMAN	W	129	ENSP00000258711:R129W;ENSP00000411207:R129W	ENSP00000258711:R129W	R	+	1	2	CHST12	2439185	0.015000	0.18098	0.285000	0.24819	0.663000	0.39108	0.970000	0.29383	-0.162000	0.10964	0.561000	0.74099	CGG		0.701	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		12	90	0	0	0	0.001855	0	12	90				
SDK1	221935	broad.mit.edu	37	7	4026893	4026893	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4026893G>T	ENST00000404826.2	+	14	2209	c.2070G>T	c.(2068-2070)tgG>tgT	p.W690C	SDK1_ENST00000389531.3_Missense_Mutation_p.W690C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	690	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W690C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCTCTCTTGGGTCCGGCCCT	0.468																																							uc003smx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(2068-2070)TGG>TGT		sidekick 1 precursor							164.0	159.0	161.0					7																	4026893		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4026893G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2070G>T	7.37:g.4026893G>T	ENSP00000385899:p.Trp690Cys						p.W690C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2209	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	690			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2070G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091462	0.76756	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.84223	-1.82;-1.82	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.96367	0.8815	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98208	1.0471	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	690	Q7Z5N4	SDK1_HUMAN	C	690	ENSP00000385899:W690C;ENSP00000374182:W690C	ENSP00000374182:W690C	W	+	3	0	SDK1	3993419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.747000	0.91610	2.588000	0.87417	0.655000	0.94253	TGG		0.468	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		112	296	1	0	1.45844e-59	0.00361	2.90508e-59	112	296				
SDK1	221935	broad.mit.edu	37	7	4116809	4116810	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4116809_4116810GG>TT	ENST00000404826.2	+	21	3329_3330	c.3190_3191GG>TT	c.(3190-3192)GGa>TTa	p.G1064L	SDK1_ENST00000389531.3_Missense_Mutation_p.G1064L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1064	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1064L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTTCTTCTGGAGTGCCCCCA	0.559																																							uc003smx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3190-3192)GGA>TTA		sidekick 1 precursor																																				SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4116809_4116810GG>TT	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	Exception_encountered	7.37:g.4116809_4116810delinsTT	ENSP00000385899:p.Gly1064Leu					SDK1_uc010kso.2_Missense_Mutation_p.G340L	p.G1064L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3329_3330	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1064					Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	DNP	ENST00000404826.2	37	c.3190_3191GG>TT	CCDS34590.1																																																																																				0.559	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	56	0	0	0	0.004672	0	9	56				
RADIL	55698	broad.mit.edu	37	7	4839071	4839071	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4839071G>T	ENST00000399583.3	-	15	3353	c.3166C>A	c.(3166-3168)Ctg>Atg	p.L1056M	RADIL_ENST00000538469.1_Missense_Mutation_p.L816M|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1056	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.L1056M(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGCGACCAGGAACCGCATC	0.652																																							uc003snj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(3166-3168)CTG>ATG		Rap GTPase interactor							72.0	79.0	76.0					7																	4839071		1997	4165	6162	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4839071G>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.3166C>A	7.37:g.4839071G>T	ENSP00000382492:p.Leu1056Met					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.L561M|RADIL_uc011jwc.1_Missense_Mutation_p.L816M|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.L352M	p.L1056M	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	15	3339	-		Ovarian(82;0.0175)	1056			PDZ.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.3166C>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710301	0.68730	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.30981	1.51;1.51	4.93	3.08	0.35506	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000014	T	0.50377	0.1612	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.989;0.997	T	0.41770	-0.9490	10	0.36615	T	0.2	-19.5429	9.2162	0.37348	0.1699:0.0:0.8301:0.0	.	1056;364	Q96JH8;Q75LH2	RADIL_HUMAN;.	M	1056;1027;675;816	ENSP00000382492:L1056M;ENSP00000442966:L816M	ENSP00000320946:L1027M	L	-	1	2	RADIL	4805597	1.000000	0.71417	0.861000	0.33841	0.698000	0.40448	4.243000	0.58721	0.564000	0.29238	0.591000	0.81541	CTG		0.652	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		15	98	1	0	3.41278e-10	0.00499	4.93125e-10	15	98				
RADIL	55698	broad.mit.edu	37	7	4874578	4874578	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4874578G>C	ENST00000399583.3	-	4	1263	c.1076C>G	c.(1075-1077)gCg>gGg	p.A359G	RADIL_ENST00000538469.1_Missense_Mutation_p.A119G|RADIL_ENST00000536091.1_Missense_Mutation_p.A359G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	359	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.A359G(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGGCCTGCGCGGGGTCCTT	0.746																																							uc003snj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1075-1077)GCG>GGG		Rap GTPase interactor							10.0	13.0	12.0					7																	4874578		1857	4085	5942	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874578G>C	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1076C>G	7.37:g.4874578G>C	ENSP00000382492:p.Ala359Gly					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.A119G|RADIL_uc011jwd.1_RNA	p.A359G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1249	-		Ovarian(82;0.0175)	359			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1076C>G	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	-	6.248	0.413857	0.11812	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.09723	2.95;2.95;2.95	4.45	0.404	0.16355	.	0.590041	0.17503	N	0.171902	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36578	-0.9742	10	0.24483	T	0.36	-7.0164	0.4985	0.00576	0.287:0.1941:0.3364:0.1825	.	359	Q96JH8	RADIL_HUMAN	G	359;330;93;359;119	ENSP00000382492:A359G;ENSP00000442533:A359G;ENSP00000442966:A119G	ENSP00000320946:A330G	A	-	2	0	RADIL	4841104	0.000000	0.05858	0.009000	0.14445	0.886000	0.51366	0.522000	0.22909	0.017000	0.15025	-0.157000	0.13467	GCG		0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		6	23	0	0	0	0.00308	0	6	23				
WIPI2	26100	broad.mit.edu	37	7	5239262	5239262	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:5239262G>T	ENST00000288828.4	+	3	416	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	WIPI2_ENST00000404704.3_Missense_Mutation_p.D62Y|WIPI2_ENST00000382384.2_Missense_Mutation_p.D44Y|WIPI2_ENST00000485854.1_3'UTR|WIPI2_ENST00000401525.3_Missense_Mutation_p.D44Y	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	62					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.D62Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCTTCTGTGGATAAGCTGGA	0.358																																							uc003snv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(184-186)GAT>TAT		WD repeat domain, phosphoinositide interacting 2							187.0	185.0	186.0					7																	5239262		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5239262G>T		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.184G>T	7.37:g.5239262G>T	ENSP00000288828:p.Asp62Tyr					WIPI2_uc003snw.2_Missense_Mutation_p.D62Y|WIPI2_uc003snx.2_Missense_Mutation_p.D44Y|WIPI2_uc003sny.2_Missense_Mutation_p.D44Y|WIPI2_uc010ksv.2_5'UTR	p.D62Y	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	3	400	+		Ovarian(82;0.0175)	62					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.184G>T	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865949	0.91511	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384	T;T;T;T	0.66815	-0.23;0.47;-0.23;0.47	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.101132	0.64402	D	0.000003	D	0.85583	0.5730	M	0.92077	3.27	0.80722	D	1	D;P;D;P	0.76494	0.999;0.917;0.989;0.865	P;P;P;P	0.62435	0.902;0.823;0.866;0.67	D	0.88391	0.3008	10	0.87932	D	0	-18.4191	19.7563	0.96294	0.0:0.0:1.0:0.0	.	44;44;62;62	Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;WIPI2_HUMAN	Y	62;44;62;44	ENSP00000288828:D62Y;ENSP00000384945:D44Y;ENSP00000385297:D62Y;ENSP00000371821:D44Y	ENSP00000288828:D62Y	D	+	1	0	WIPI2	5205788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.671000	0.91174	2.835000	0.97688	0.650000	0.86243	GAT		0.358	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		47	267	1	0	4.17328e-34	0.00361	8.14784e-34	47	267				
RSPH10B	222967	broad.mit.edu	37	7	6006566	6006566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:6006566C>A	ENST00000405415.1	-	2	568	c.182G>T	c.(181-183)cGc>cTc	p.R61L	RSPH10B_ENST00000337579.3_Missense_Mutation_p.R61L|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R61L|RSPH10B_ENST00000404406.1_Missense_Mutation_p.R61L			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	61								p.R61L(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AACGTTTTGGCGGTCTTTTTT	0.483																																							uc003sph.1		NA																	1	Substitution - Missense(1)	p.R61H(1)	lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(181-183)CGC>CTC		radial spoke head 10 homolog B							157.0	109.0	126.0					7																	6006566		2082	3771	5853	SO:0001583	missense	728194							g.chr7:6006566C>A		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.182G>T	7.37:g.6006566C>A	ENSP00000385443:p.Arg61Leu					RSPH10B2_uc010ktd.1_Missense_Mutation_p.R61L	p.R61L	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			3	453	-			61					A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	c.182G>T	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	c	0.813	-0.751394	0.03041	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.43	0.388	0.16264	.	32.676400	0.00166	N	0.000004	T	0.28699	0.0711	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13629	-1.0502	10	0.29301	T	0.29	.	6.3848	0.21554	0.1776:0.4398:0.3826:0.0	.	61	P0C881	R10B1_HUMAN	L	61	ENSP00000385443:R61L;ENSP00000384097:R61L;ENSP00000338556:R61L;ENSP00000400988:R61L	ENSP00000338556:R61L	R	-	2	0	RSPH10B	5973092	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.160000	0.16462	-0.272000	0.09259	-0.216000	0.12614	CGC		0.483	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		34	169	1	0	7.62715e-32	0.007835	1.47593e-31	34	169				
COL28A1	340267	broad.mit.edu	37	7	7413034	7413034	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:7413034C>A	ENST00000399429.3	-	32	2643	c.2503G>T	c.(2503-2505)Gcc>Tcc	p.A835S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	835	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A835S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTATGCGGGCCGTGGCAAGG	0.478																																							uc003src.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2503-2505)GCC>TCC		collagen, type XXVIII precursor							85.0	82.0	83.0					7																	7413034		1913	4133	6046	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7413034C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2503G>T	7.37:g.7413034C>A	ENSP00000382356:p.Ala835Ser					COL28A1_uc011jxe.1_Missense_Mutation_p.A518S	p.A835S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2620	-		Ovarian(82;0.0789)	835			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2503G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	9.851	1.193549	0.22037	.	.	ENSG00000215018	ENST00000399429	D	0.82984	-1.67	4.44	1.58	0.23477	von Willebrand factor, type A (3);	0.365987	0.22757	U	0.056001	T	0.67097	0.2857	N	0.17082	0.46	0.32825	D	0.503323	B	0.19817	0.039	B	0.29267	0.1	T	0.59402	-0.7461	10	0.27082	T	0.32	-0.9795	5.3619	0.16093	0.1294:0.5712:0.0:0.2995	.	835	Q2UY09	COSA1_HUMAN	S	835	ENSP00000382356:A835S	ENSP00000382356:A835S	A	-	1	0	COL28A1	7379559	0.038000	0.19896	0.247000	0.24249	0.558000	0.35554	0.104000	0.15313	0.213000	0.20722	0.655000	0.94253	GCC		0.478	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		52	128	1	0	4.6707e-30	0.00361	8.96774e-30	52	128				
THSD7A	221981	broad.mit.edu	37	7	11468710	11468710	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:11468710C>A	ENST00000423059.4	-	14	3358	c.3107G>T	c.(3106-3108)tGc>tTc	p.C1036F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1036	TSP type-1 11. {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.C1036F(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)		ACTGAGCTTGCAGTCTGAGGG	0.512										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3106-3108)TGC>TTC		thrombospondin, type I, domain containing 7A							142.0	141.0	142.0					7																	11468710		2046	4187	6233	SO:0001583	missense	221981					integral to membrane		g.chr7:11468710C>A		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.3107G>T	7.37:g.11468710C>A	ENSP00000406482:p.Cys1036Phe	HNSCC(18;0.044)					p.C1036F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3359	-			1036			TSP type-1 11.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.3107G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510958	0.85389	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.63580	-0.05	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91242	0.5022	10	0.62326	D	0.03	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	1036	Q9UPZ6	THS7A_HUMAN	F	1036	ENSP00000406482:C1036F	ENSP00000262042:C1036F	C	-	2	0	THSD7A	11435235	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.623000	0.88846	0.655000	0.94253	TGC		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		57	162	1	0	3.21867e-24	0.00361	5.96455e-24	57	162				
AGMO	392636	broad.mit.edu	37	7	15425104	15425104	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:15425104C>A	ENST00000342526.3	-	10	1210	c.1041G>T	c.(1039-1041)ttG>ttT	p.L347F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	347					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.L347F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATAAAATGCCAACATCAGAG	0.358																																							uc003stb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1039-1041)TTG>TTT		transmembrane protein 195							102.0	101.0	101.0					7																	15425104		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15425104C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1041G>T	7.37:g.15425104C>A	ENSP00000341662:p.Leu347Phe						p.L347F	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			10	1211	-			347			Helical; (Potential).		A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.1041G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740313	0.30865	.	.	ENSG00000187546	ENST00000342526	T	0.37235	1.21	5.47	-7.28	0.01456	.	0.174732	0.38436	N	0.001681	T	0.28400	0.0702	M	0.66939	2.045	0.26786	N	0.969502	B	0.29481	0.245	B	0.33750	0.169	T	0.26643	-1.0097	10	0.72032	D	0.01	-26.4873	6.3116	0.21169	0.3743:0.3761:0.0:0.2496	.	347	Q6ZNB7	ALKMO_HUMAN	F	347	ENSP00000341662:L347F	ENSP00000341662:L347F	L	-	3	2	AGMO	15391629	0.000000	0.05858	0.008000	0.14137	0.211000	0.24417	-1.066000	0.03454	-0.907000	0.03862	-0.294000	0.09567	TTG		0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		16	111	1	0	6.94344e-10	0.006122	9.90913e-10	16	111				
SOSTDC1	25928	broad.mit.edu	37	7	16502317	16502317	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:16502317T>A	ENST00000307068.4	-	2	657	c.477A>T	c.(475-477)gtA>gtT	p.V159V	SOSTDC1_ENST00000396652.1_Silent_p.V183V	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	159	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.V159V(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGGCAGTGACTACTGTGATTT	0.552																																							uc003stg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(475-477)GTA>GTT		sclerostin domain containing 1 precursor							238.0	192.0	208.0					7																	16502317		2203	4300	6503	SO:0001819	synonymous_variant	25928				Wnt receptor signaling pathway			g.chr7:16502317T>A	AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"""ectodin"""	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.477A>T	7.37:g.16502317T>A						SOSTDC1_uc003sth.2_Silent_p.V183V	p.V159V	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	2	658	-	Lung NSC(10;0.185)		159			CTCK.		A8MUA6|Q96HJ7|Q9Y3U3	Silent	SNP	ENST00000307068.4	37	c.477A>T	CCDS5360.1																																																																																				0.552	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1	NM_015464		88	221	0	0	0	0.00361	0	88	221				
ANKMY2	57037	broad.mit.edu	37	7	16666731	16666731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:16666731C>A	ENST00000306999.2	-	3	448	c.205G>T	c.(205-207)Gga>Tga	p.G69*	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	69						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.G69*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCGGCTCCATGTCGCAGT	0.353																																							uc003sti.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(205-207)GGA>TGA		ankyrin repeat and MYND domain containing 2							97.0	84.0	88.0					7																	16666731		2203	4300	6503	SO:0001587	stop_gained	57037					cilium	zinc ion binding	g.chr7:16666731C>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.205G>T	7.37:g.16666731C>A	ENSP00000303570:p.Gly69*					ANKMY2_uc010ktz.2_RNA	p.G69*	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	3	405	-	Lung NSC(10;0.103)|all_lung(11;0.204)		69			ANK 1.		A4D124|Q659G1|Q96BL3	Nonsense_Mutation	SNP	ENST00000306999.2	37	c.205G>T	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515751	0.96402	.	.	ENSG00000106524	ENST00000306999	.	.	.	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0209	14.4885	0.67634	0.0:0.93:0.0:0.07	.	.	.	.	X	69	.	ENSP00000303570:G69X	G	-	1	0	ANKMY2	16633256	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	5.672000	0.68102	1.433000	0.47394	0.650000	0.86243	GGA		0.353	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		8	35	1	0	0.00448238	0.004482	0.00475543	8	35				
TMEM196	256130	broad.mit.edu	37	7	19761705	19761705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:19761705C>A	ENST00000405764.3	-	4	1208	c.512G>T	c.(511-513)aGa>aTa	p.R171I	AC004543.1_ENST00000408649.2_RNA|TMEM196_ENST00000422233.1_3'UTR|TMEM196_ENST00000405844.1_3'UTR|TMEM196_ENST00000493519.1_Missense_Mutation_p.R103I|TMEM196_ENST00000433641.1_3'UTR	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	177						integral component of membrane (GO:0016021)		p.R103I(1)|p.R171I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGATTACACTCTTCCATTAAA	0.318																																							uc011jyg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(511-513)AGA>ATA		transmembrane protein 196							144.0	128.0	133.0					7																	19761705		2202	4299	6501	SO:0001583	missense	256130					integral to membrane		g.chr7:19761705C>A		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.512G>T	7.37:g.19761705C>A	ENSP00000384234:p.Arg171Ile					TMEM196_uc003sur.2_RNA	p.R171I	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			4	597	-			177					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.512G>T	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871316	0.72065	.	.	ENSG00000173452	ENST00000405764;ENST00000493519	.	.	.	5.84	5.84	0.93424	.	0.047094	0.85682	D	0.000000	T	0.52517	0.1739	N	0.24115	0.695	0.80722	D	1	B	0.17465	0.022	B	0.11329	0.006	T	0.48896	-0.8994	9	0.72032	D	0.01	.	18.3196	0.90232	0.0:1.0:0.0:0.0	.	171	Q5HYL7-4	.	I	171;103	.	ENSP00000384234:R171I	R	-	2	0	TMEM196	19728230	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.531000	0.45650	2.764000	0.94973	0.655000	0.94253	AGA		0.318	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		11	38	1	0	2.27111e-07	0.001368	2.92893e-07	11	38				
ABCB5	340273	broad.mit.edu	37	7	20784905	20784906	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:20784905_20784906CC>AA	ENST00000404938.2	+	26	3925_3926	c.3273_3274CC>AA	c.(3271-3276)tcCCaa>tcAAaa	p.Q1092K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q647K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1092	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)	p.Q647K(1)|p.Q1092K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGCTCCGTTCCCAAATAGCAAT	0.46																																							uc003suw.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1936-1941)TCCCAA>TCAAAA		ATP-binding cassette, sub-family B, member 5																																				SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20784905_20784906CC>AA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	Exception_encountered	7.37:g.20784905_20784906delinsAA	ENSP00000384881:p.Gln1092Lys					ABCB5_uc010kuh.2_Missense_Mutation_p.Q1092K	p.Q647K	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			17	2484_2485	+			647			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	DNP	ENST00000404938.2	37	c.1938_1939CC>AA	CCDS55090.1																																																																																				0.460	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		27	77	0	0	0	0.004672	0	27	77				
KLHL7	55975	broad.mit.edu	37	7	23180421	23180421	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23180421C>A	ENST00000339077.5	+	5	719	c.476C>A	c.(475-477)cCt>cAt	p.P159H	KLHL7_ENST00000545443.1_Missense_Mutation_p.P137H|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.P137H|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.P83H|KLHL7_ENST00000409689.1_Missense_Mutation_p.P111H	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	159	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.P137H(1)|p.P159H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAGATTGTCCTGAATTGAAA	0.323																																							uc003svs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(475-477)CCT>CAT		kelch-like 7 isoform 1							95.0	94.0	94.0					7																	23180421		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180421C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.476C>A	7.37:g.23180421C>A	ENSP00000343273:p.Pro159His					KLHL7_uc003svr.3_Missense_Mutation_p.P137H|KLHL7_uc011jys.1_Missense_Mutation_p.P83H|KLHL7_uc011jyt.1_Translation_Start_Site|KLHL7_uc003svt.2_Missense_Mutation_p.P111H|KLHL7_uc011jyv.1_Translation_Start_Site	p.P159H	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			5	769	+			159					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.476C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425440	0.83667	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.35	5.35	0.76521	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.38692	1.165	0.80722	D	1	P;D	0.53151	0.875;0.958	P;P	0.51550	0.656;0.673	T	0.69903	-0.5019	10	0.49607	T	0.09	.	19.439	0.94809	0.0:1.0:0.0:0.0	.	159;137	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	H	137;159;83;111;137	ENSP00000322958:P137H;ENSP00000343273:P159H;ENSP00000441136:P83H;ENSP00000386263:P111H;ENSP00000442366:P137H	ENSP00000322958:P137H	P	+	2	0	KLHL7	23146946	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.228000	0.78079	2.662000	0.90505	0.563000	0.77884	CCT		0.323	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		25	104	1	0	1.17739e-12	0.005443	1.84778e-12	25	104				
KLHL7	55975	broad.mit.edu	37	7	23180432	23180432	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23180432G>A	ENST00000339077.5	+	5	730	c.487G>A	c.(487-489)Gca>Aca	p.A163T	KLHL7_ENST00000545443.1_Missense_Mutation_p.A141T|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.A141T|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.A87T|KLHL7_ENST00000409689.1_Missense_Mutation_p.A115T	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	163	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.A163T(1)|p.A141T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATTGAAAGCAACTGCAGA	0.333																																							uc003svs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(487-489)GCA>ACA		kelch-like 7 isoform 1							98.0	96.0	97.0					7																	23180432		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180432G>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.487G>A	7.37:g.23180432G>A	ENSP00000343273:p.Ala163Thr					KLHL7_uc003svr.3_Missense_Mutation_p.A141T|KLHL7_uc011jys.1_Missense_Mutation_p.A87T|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.A115T|KLHL7_uc011jyv.1_5'UTR	p.A163T	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			5	780	+			163					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.487G>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040197	0.55003	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.35	4.46	0.54185	BTB/Kelch-associated (2);	0.104526	0.64402	D	0.000004	T	0.48484	0.1502	N	0.17838	0.53	0.80722	D	1	B;B	0.34181	0.44;0.047	B;B	0.32090	0.14;0.015	T	0.45071	-0.9286	10	0.07990	T	0.79	.	15.9163	0.79521	0.0:0.0:0.8641:0.1359	.	163;141	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	T	141;163;87;115;141	ENSP00000322958:A141T;ENSP00000343273:A163T;ENSP00000441136:A87T;ENSP00000386263:A115T;ENSP00000442366:A141T	ENSP00000322958:A141T	A	+	1	0	KLHL7	23146957	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.233000	0.58651	1.360000	0.45960	0.563000	0.77884	GCA		0.333	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		27	112	0	0	0	0.007291	0	27	112				
KLHL7	55975	broad.mit.edu	37	7	23205441	23205441	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23205441G>C	ENST00000339077.5	+	8	1304	c.1061G>C	c.(1060-1062)tGc>tCc	p.C354S	KLHL7_ENST00000545443.1_Missense_Mutation_p.C332S|KLHL7_ENST00000322231.7_Missense_Mutation_p.C332S|KLHL7_ENST00000542558.1_Missense_Mutation_p.C129S|KLHL7_ENST00000539124.1_Missense_Mutation_p.C278S|KLHL7_ENST00000409689.1_Missense_Mutation_p.C306S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	354					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.C332S(1)|p.C354S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAATGGACTGCTATAATGTA	0.453																																							uc003svs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1060-1062)TGC>TCC		kelch-like 7 isoform 1							86.0	86.0	86.0					7																	23205441		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205441G>C		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1061G>C	7.37:g.23205441G>C	ENSP00000343273:p.Cys354Ser					KLHL7_uc003svr.3_Missense_Mutation_p.C332S|KLHL7_uc011jys.1_Missense_Mutation_p.C278S|KLHL7_uc011jyt.1_Missense_Mutation_p.C129S|KLHL7_uc003svt.2_Missense_Mutation_p.C306S|KLHL7_uc011jyv.1_Missense_Mutation_p.C129S	p.C354S	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			8	1354	+			354			Kelch 2.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1061G>C	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129624	0.77549	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.78126	-1.15;-0.18;-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.41356	1.27	0.80722	D	1	P;D;P	0.58970	0.866;0.984;0.48	B;P;B	0.49085	0.378;0.6;0.118	T	0.72865	-0.4163	10	0.22706	T	0.39	.	19.9926	0.97371	0.0:0.0:1.0:0.0	.	129;354;332	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	S	195;320;332;354;278;129;306;332	ENSP00000322958:C332S;ENSP00000343273:C354S;ENSP00000441136:C278S;ENSP00000442367:C129S;ENSP00000386263:C306S;ENSP00000442366:C332S	ENSP00000322958:C332S	C	+	2	0	KLHL7	23171966	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.476000	0.97823	2.729000	0.93468	0.467000	0.42956	TGC		0.453	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		14	44	0	0	0	0.003163	0	14	44				
NPY	4852	broad.mit.edu	37	7	24324910	24324910	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:24324910C>T	ENST00000407573.1	+	3	341	c.51C>T	c.(49-51)tcC>tcT	p.S17S	NPY_ENST00000242152.2_Silent_p.S17S|NPY_ENST00000405982.1_Silent_p.S17S			P01303	NPY_HUMAN	neuropeptide Y	17					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.S17S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TCGCCCTGTCCCTGCTCGTGT	0.657																																							uc003sww.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)TCC>TCT		neuropeptide Y precursor							92.0	76.0	81.0					7																	24324910		2203	4300	6503	SO:0001819	synonymous_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324910C>T	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.51C>T	7.37:g.24324910C>T							p.S17S	NM_000905	NP_000896	P01303	NPY_HUMAN			2	137	+			17						Silent	SNP	ENST00000407573.1	37	c.51C>T	CCDS5387.1																																																																																				0.657	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		24	99	0	0	0	0.004656	0	24	99				
OSBPL3	26031	broad.mit.edu	37	7	24870410	24870410	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:24870410C>T	ENST00000313367.2	-	16	2312	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	OSBPL3_ENST00000409069.1_Missense_Mutation_p.G554S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.G554S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.G585S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G590S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G585S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G590S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	621					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.G621S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACTGGAAGCCCTTGTCCTCC	0.418																																							uc003sxf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1861-1863)GGC>AGC		oxysterol-binding protein-like protein 3 isoform							187.0	203.0	197.0					7																	24870410		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24870410C>T	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1861G>A	7.37:g.24870410C>T	ENSP00000315410:p.Gly621Ser					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.G585S|OSBPL3_uc003sxh.2_Missense_Mutation_p.G590S|OSBPL3_uc003sxi.2_Missense_Mutation_p.G554S	p.G621S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			16	2266	-			621					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1861G>A	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670911	0.96754	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	M	0.90650	3.135	0.80722	D	1	P;P;P;P	0.48998	0.857;0.918;0.918;0.688	P;P;P;P	0.48952	0.596;0.596;0.596;0.491	T	0.69217	-0.5203	10	0.87932	D	0	-10.6778	19.9306	0.97117	0.0:1.0:0.0:0.0	.	554;590;585;621	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	S	621;590;585;554;590;585;554	ENSP00000315410:G621S;ENSP00000315331:G590S;ENSP00000315277:G585S;ENSP00000389779:G554S;ENSP00000379708:G590S;ENSP00000379706:G585S;ENSP00000386953:G554S	ENSP00000315410:G621S	G	-	1	0	OSBPL3	24836935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.764000	0.85297	2.732000	0.93576	0.591000	0.81541	GGC		0.418	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			24	345	0	0	0	0.003954	0	24	345				
HOXA1	3198	broad.mit.edu	37	7	27134253	27134253	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:27134253G>C	ENST00000343060.4	-	2	875	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	272					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q272E(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTTCACTTGGGTCTCGTTG	0.577																																							uc003sye.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(814-816)CAA>GAA		homeobox A1 isoform a							112.0	93.0	99.0					7																	27134253		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134253G>C		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.814C>G	7.37:g.27134253G>C	ENSP00000343246:p.Gln272Glu					HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	p.Q272E	NM_005522	NP_005513	P49639	HXA1_HUMAN			2	908	-			272			Homeobox.		A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.814C>G	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364441	0.82463	.	.	ENSG00000105991	ENST00000343060	D	0.96967	-4.19	5.31	5.31	0.75309	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.109404	0.64402	D	0.000003	D	0.98918	0.9633	H	0.97415	4	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.99437	1.0937	10	0.87932	D	0	.	18.98	0.92752	0.0:0.0:1.0:0.0	.	272	P49639	HXA1_HUMAN	E	272	ENSP00000343246:Q272E	ENSP00000343246:Q272E	Q	-	1	0	HOXA1	27100778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.806000	0.99153	2.495000	0.84180	0.655000	0.94253	CAA		0.577	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			16	124	0	0	0	0.004007	0	16	124				
PLEKHA8	84725	broad.mit.edu	37	7	30092445	30092445	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:30092445C>T	ENST00000449726.1	+	7	1109	c.759C>T	c.(757-759)agC>agT	p.S253S	PLEKHA8_ENST00000396257.2_Silent_p.S253S|PLEKHA8_ENST00000258679.7_Silent_p.S253S|PLEKHA8_ENST00000396259.1_Silent_p.S253S	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	253					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.S253S(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAGACTGCAGCATATCAAGTG	0.284																																							uc003tam.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)	4						c.(757-759)AGC>AGT		pleckstrin homology domain containing, family A							33.0	33.0	33.0					7																	30092445		2182	4294	6476	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30092445C>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.759C>T	7.37:g.30092445C>T						PLEKHA8_uc003tao.2_Silent_p.S137S|PLEKHA8_uc003tap.1_Silent_p.S253S|PLEKHA8_uc003tan.2_Silent_p.S253S	p.S253S	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			7	850	+			253					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.759C>T	CCDS56473.1																																																																																				0.284	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		3	19	0	0	0	0.004672	0	3	19				
GHRHR	2692	broad.mit.edu	37	7	31014634	31014634	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31014634G>T	ENST00000326139.2	+	9	907	c.861G>T	c.(859-861)ggG>ggT	p.G287G	GHRHR_ENST00000409904.3_Silent_p.G223G|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Missense_Mutation_p.A54S	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	287					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.G287G(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCATCAAAGGGCCCATTGTCC	0.577											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003tbx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(859-861)GGG>GGT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						162.0	139.0	147.0					7																	31014634		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014634G>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.861G>T	7.37:g.31014634G>T			OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	GHRHR_uc003tbw.1_Silent_p.G287G|GHRHR_uc003tby.2_Silent_p.G223G|GHRHR_uc003tbz.2_Missense_Mutation_p.A54S	p.G287G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			9	909	+			287			Helical; Name=5; (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.861G>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469030	0.26335	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.51	-2.34	0.06704	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.80722	D	1	B	0.28419	0.211	B	0.26094	0.066	T	0.15578	-1.0432	7	0.72032	D	0.01	.	1.4657	0.02405	0.387:0.2404:0.2501:0.1226	.	54	Q9HB43	.	S	75;54	.	ENSP00000386919:A75S	A	+	1	0	GHRHR	30981159	0.801000	0.28930	0.978000	0.43139	0.655000	0.38815	-0.136000	0.10405	-0.545000	0.06224	-0.182000	0.12963	GCC		0.577	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			20	177	1	0	1.10513e-12	0.002299	1.73992e-12	20	177				
ADCYAP1R1	117	broad.mit.edu	37	7	31146224	31146224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31146224C>A	ENST00000304166.4	+	16	1622	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Q501K|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Q424K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Q473K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	445					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.Q445K(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGGGGCACCCAGCTCTCCAT	0.602																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1333-1335)CAG>AAG		adenylate cyclase activating polypeptide 1							117.0	96.0	103.0					7																	31146224		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31146224C>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1333C>A	7.37:g.31146224C>A	ENSP00000306620:p.Gln445Lys					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Q424K|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Q473K|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Q473K|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Q472K|uc003tcg.2_5'Flank	p.Q445K	NM_001118	NP_001109	P41586	PACR_HUMAN			16	1556	+			445			Cytoplasmic (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1333C>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702482	0.88924	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.50277	1.12;1.14;0.76;0.75	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.39898	1.24	0.80722	D	1	P;B;P;D;B	0.55605	0.507;0.325;0.774;0.972;0.325	B;B;B;P;B	0.53360	0.207;0.199;0.375;0.724;0.131	T	0.48281	-0.9049	10	0.39692	T	0.17	.	16.137	0.81492	0.0:1.0:0.0:0.0	.	472;473;501;424;445	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	K	445;424;473;501	ENSP00000306620:Q445K;ENSP00000387335:Q424K;ENSP00000379514:Q473K;ENSP00000386395:Q501K	ENSP00000306620:Q445K	Q	+	1	0	ADCYAP1R1	31112749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.495000	0.84180	0.655000	0.94253	CAG		0.602	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		14	62	1	0	0.000308642	0.003163	0.000343751	14	62				
CCDC129	223075	broad.mit.edu	37	7	31617853	31617853	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31617853A>G	ENST00000407970.3	+	8	1013	c.975A>G	c.(973-975)ctA>ctG	p.L325L	CCDC129_ENST00000409210.1_Silent_p.L233L|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Silent_p.L351L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	325								p.L325L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGATTTGCTACCTTATCCTC	0.502																																							uc003tcj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(973-975)CTA>CTG		coiled-coil domain containing 129							79.0	78.0	79.0					7																	31617853		2065	4208	6273	SO:0001819	synonymous_variant	223075							g.chr7:31617853A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.975A>G	7.37:g.31617853A>G						CCDC129_uc011kad.1_Silent_p.L335L|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.L351L|CCDC129_uc003tck.1_Silent_p.L233L	p.L325L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	1968	+			325					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.975A>G	CCDS5435.2																																																																																				0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		16	65	0	0	0	0.00499	0	16	65				
BMPER	168667	broad.mit.edu	37	7	33945247	33945247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:33945247G>A	ENST00000297161.2	+	2	396	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	BMPER_ENST00000426693.1_Missense_Mutation_p.G8R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	8					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.G8R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCCGGCGTCGGGGCTCTGGC	0.652																																							uc011kap.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(22-24)GGG>AGG		BMP-binding endothelial regulator precursor							42.0	41.0	41.0					7																	33945247		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:33945247G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.22G>A	7.37:g.33945247G>A	ENSP00000297161:p.Gly8Arg						p.G8R	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			1	136	+			8					A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.22G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719789	0.15372	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	T;T	0.17054	2.3;2.3	3.51	0.874	0.19124	.	0.461278	0.19248	N	0.119015	T	0.05456	0.0144	N	0.08118	0	0.22591	N	0.998954	B	0.02656	0.0	B	0.01281	0.0	T	0.39881	-0.9592	10	0.06099	T	0.92	.	3.8351	0.08891	0.5758:0.1891:0.2351:0.0	.	8	Q8N8U9	BMPER_HUMAN	R	8	ENSP00000297161:G8R;ENSP00000393950:G8R	ENSP00000297161:G8R	G	+	1	0	BMPER	33911772	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	0.620000	0.24403	0.522000	0.28464	-0.484000	0.04775	GGG		0.652	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		13	53	0	0	0	0.001855	0	13	53				
BMPER	168667	broad.mit.edu	37	7	34125411	34125412	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:34125411_34125412GG>TT	ENST00000297161.2	+	14	1826_1827	c.1452_1453GG>TT	c.(1450-1455)atGGct>atTTct	p.484_485MA>IS	BMPER_ENST00000426693.1_Missense_Mutation_p.484_485MA>IS	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	484	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.M484_A485>IS(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TAGAAGTCATGGCTGCGCCGCA	0.431																																							uc011kap.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1450-1455)ATGGCT>ATTTCT		BMP-binding endothelial regulator precursor																																				SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125411_34125412GG>TT		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	Exception_encountered	7.37:g.34125411_34125412delinsTT	ENSP00000297161:p.M484_A485delinsIS						p.484_485MA>IS	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1566_1567	+			484_485			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	DNP	ENST00000297161.2	37	c.1452_1453GG>TT	CCDS5442.1																																																																																				0.431	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		10	58	0	0	0	0.004672	0	10	58				
BMPER	168667	broad.mit.edu	37	7	34182962	34182962	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:34182962G>A	ENST00000297161.2	+	15	2240	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	BMPER_ENST00000426693.1_Silent_p.Q622Q	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	622					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Q622Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCCTCAGCAGAATTGTGCAG	0.483																																							uc011kap.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1864-1866)CAG>CAA		BMP-binding endothelial regulator precursor							81.0	81.0	81.0					7																	34182962		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34182962G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1866G>A	7.37:g.34182962G>A							p.Q622Q	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			14	1980	+			622					A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1866G>A	CCDS5442.1																																																																																				0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		7	77	0	0	0	0.001984	0	7	77				
ELMO1	9844	broad.mit.edu	37	7	37253043	37253043	+	Missense_Mutation	SNP	C	C	A	rs540991176		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:37253043C>A	ENST00000310758.4	-	12	1498	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ELMO1_ENST00000442504.1_Missense_Mutation_p.R284L|ELMO1_ENST00000448602.1_Missense_Mutation_p.R284L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	284					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.R284L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTTGATGGCCCGCTGGGCTCG	0.448																																							uc003tfk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(850-852)CGG>CTG		engulfment and cell motility 1 isoform 1							83.0	67.0	72.0					7																	37253043		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37253043C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.851G>T	7.37:g.37253043C>A	ENSP00000312185:p.Arg284Leu					ELMO1_uc011kbc.1_Missense_Mutation_p.R188L|ELMO1_uc010kxg.1_Missense_Mutation_p.R284L	p.R284L	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			12	1158	-			284					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.851G>T	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.582218|2.582218	0.46006|0.46006	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.32753	.|2.48;2.48;2.48;1.44	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.119854	.|0.53938	.|D	.|0.000046	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B	.|0.21147	.|0.052	.|B	.|0.23852	.|0.049	T|T	0.06844|0.06844	-1.0804|-1.0804	5|10	.|0.31617	.|T	.|0.26	.|.	19.6158|19.6158	0.95633|0.95633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284	.|Q92556	.|ELMO1_HUMAN	W|L	64|284;188;284;284;25	.|ENSP00000312185:R284L;ENSP00000406952:R284L;ENSP00000394458:R284L;ENSP00000395933:R25L	.|ENSP00000312185:R284L	G|R	-|-	1|2	0|0	ELMO1|ELMO1	37219568|37219568	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.916000|3.916000	0.56416|0.56416	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.448	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		15	44	1	0	1.3612e-06	0.003163	1.69226e-06	15	44				
NME8	51314	broad.mit.edu	37	7	37936532	37936532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:37936532G>T	ENST00000199447.4	+	17	1977	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	NME8_ENST00000440017.1_Missense_Mutation_p.L535F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	535	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.L535F(1)									GGAGACGATTGATGGGCCCAA	0.463																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1603-1605)TTG>TTT		thioredoxin domain containing 3							115.0	110.0	112.0					7																	37936532		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37936532G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1605G>T	7.37:g.37936532G>T	ENSP00000199447:p.Leu535Phe						p.L535F	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			17	1977	+			535			NDK 3.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1605G>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202637	0.22121	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.58506	0.33;0.33	5.54	0.358	0.16084	.	0.325648	0.22253	N	0.062521	T	0.57446	0.2054	M	0.75085	2.285	0.35546	D	0.803437	P	0.44344	0.833	P	0.49085	0.6	T	0.59947	-0.7358	10	0.33940	T	0.23	-7.9703	4.22	0.10552	0.3676:0.3179:0.3145:0.0	.	535	Q8N427	TXND3_HUMAN	F	535	ENSP00000199447:L535F;ENSP00000397063:L535F	ENSP00000199447:L535F	L	+	3	2	TXNDC3	37903057	1.000000	0.71417	0.955000	0.39395	0.012000	0.07955	1.068000	0.30629	0.385000	0.24970	-0.137000	0.14449	TTG		0.463	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		8	106	1	0	2.17888e-05	0.006214	2.56155e-05	8	106				
AMPH	273	broad.mit.edu	37	7	38500951	38500951	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:38500951G>T	ENST00000356264.2	-	11	1164	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	AMPH_ENST00000325590.5_Missense_Mutation_p.Q317K|AMPH_ENST00000428293.2_Missense_Mutation_p.Q317K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	317					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.Q317K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATGTTCTCCTGCTGCAGTTCC	0.468																																							uc003tgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(949-951)CAG>AAG		amphiphysin isoform 1							191.0	190.0	190.0					7																	38500951		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38500951G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.949C>A	7.37:g.38500951G>T	ENSP00000348602:p.Gln317Lys					AMPH_uc003tgv.2_Missense_Mutation_p.Q317K|AMPH_uc003tgt.2_Missense_Mutation_p.Q70K	p.Q317K	NM_001635	NP_001626	P49418	AMPH_HUMAN			11	1018	-			317					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.949C>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.565950|3.565950	0.65651|0.65651	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	.|T;T;T	.|0.41065	.|1.01;1.01;1.01	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.211710	.|0.40818	.|N	.|0.001015	T|T	0.48169|0.48169	0.1485|0.1485	M|M	0.73962|0.73962	2.25|2.25	0.49915|0.49915	D|D	0.99983|0.99983	.|B;P;P	.|0.46395	.|0.338;0.77;0.877	.|B;B;B	.|0.40565	.|0.154;0.333;0.257	T|T	0.49273|0.49273	-0.8957|-0.8957	5|10	.|0.33141	.|T	.|0.24	-9.0244|-9.0244	19.9922|19.9922	0.97370|0.97370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317;73	.|P49418-2;P49418;Q8NFL4	.|.;AMPH_HUMAN;.	E|K	67|317;317;317;87;320	.|ENSP00000317441:Q317K;ENSP00000348602:Q317K;ENSP00000390734:Q317K	.|ENSP00000317441:Q317K	A|Q	-|-	2|1	0|0	AMPH|AMPH	38467476|38467476	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.996000|0.996000	0.88848|0.88848	5.968000|5.968000	0.70413|0.70413	2.740000|2.740000	0.93945|0.93945	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.468	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		18	160	1	0	5.3912e-06	0.006122	6.50913e-06	18	160				
YAE1D1	57002	broad.mit.edu	37	7	39610208	39610208	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:39610208G>T	ENST00000223273.2	+	2	276	c.233G>T	c.(232-234)cGa>cTa	p.R78L	YAE1D1_ENST00000448268.1_Missense_Mutation_p.R78L|YAE1D1_ENST00000432096.2_Missense_Mutation_p.R78L	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	78								p.R78L(1)									AACTATGGACGACTCCGAGGA	0.353																																							uc003thc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CGA>CTA		hypothetical protein LOC57002							122.0	125.0	124.0					7																	39610208		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39610208G>T	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.233G>T	7.37:g.39610208G>T	ENSP00000223273:p.Arg78Leu						p.R78L	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			2	242	+			78					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.233G>T	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651060	0.29336	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.41758	0.99;0.99;0.99	6.02	2.27	0.28462	Essential protein Yae1, N-terminal (1);	0.294689	0.38436	N	0.001690	T	0.14184	0.0343	N	0.02129	-0.67	0.24883	N	0.992215	B	0.02656	0.0	B	0.06405	0.002	T	0.20806	-1.0264	10	0.21014	T	0.42	-10.1871	5.4735	0.16682	0.6505:0.0:0.0731:0.2764	.	78	Q9NRH1	CG036_HUMAN	L	78	ENSP00000223273:R78L;ENSP00000400511:R78L;ENSP00000395777:R78L	ENSP00000223273:R78L	R	+	2	0	C7orf36	39576733	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	2.855000	0.48333	0.134000	0.18681	-0.312000	0.09012	CGA		0.353	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		25	138	1	0	1.77063e-15	0.005443	2.98339e-15	25	138				
HECW1	23072	broad.mit.edu	37	7	43436462	43436462	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43436462G>C	ENST00000395891.2	+	7	1210	c.605G>C	c.(604-606)cGg>cCg	p.R202P	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R202P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	202	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R202P(1)|p.R181P(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAAGGAAGTCGGAGGCTGATC	0.423																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(604-606)CGG>CCG		NEDD4-like ubiquitin-protein ligase 1							180.0	173.0	175.0					7																	43436462		1896	4114	6010	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43436462G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.605G>C	7.37:g.43436462G>C	ENSP00000379228:p.Arg202Pro					HECW1_uc011kbi.1_Missense_Mutation_p.R202P|HECW1_uc003tie.1_Missense_Mutation_p.R234P	p.R202P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			7	1210	+			202			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.605G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324314	0.81580	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.36340	1.29;1.26	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.051569	0.85682	D	0.000000	T	0.56337	0.1978	L	0.51422	1.61	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.87578	0.997;0.831;0.998	T	0.56306	-0.8001	10	0.72032	D	0.01	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	202;234;202	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	P	202;202;201	ENSP00000379228:R202P;ENSP00000407774:R202P	ENSP00000265522:R201P	R	+	2	0	HECW1	43402987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.748000	0.68697	2.652000	0.90054	0.655000	0.94253	CGG		0.423	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	83	0	0	0	0.001368	0	11	83				
HECW1	23072	broad.mit.edu	37	7	43484004	43484004	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43484004G>A	ENST00000395891.2	+	11	1838	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	HECW1_ENST00000453890.1_Silent_p.E411E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E390E(1)|p.E411E(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGCATAGAGCTTTCCAGAC	0.627																																							uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1231-1233)GAG>GAA		NEDD4-like ubiquitin-protein ligase 1							39.0	42.0	41.0					7																	43484004		2082	4234	6316	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484004G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1233G>A	7.37:g.43484004G>A						HECW1_uc011kbi.1_Silent_p.E411E	p.E411E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1838	+			411					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1233G>A	CCDS5469.2																																																																																				0.627	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		10	86	0	0	0	0.006214	0	10	86				
HECW1	23072	broad.mit.edu	37	7	43547716	43547716	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43547716T>A	ENST00000395891.2	+	23	4457	c.3852T>A	c.(3850-3852)ttT>ttA	p.F1284L	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.F1250L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1284	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F1263L(1)|p.F1284L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACGTCACCTTTGTTGGAGAGG	0.532																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3850-3852)TTT>TTA		NEDD4-like ubiquitin-protein ligase 1							61.0	62.0	62.0					7																	43547716		1953	4142	6095	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43547716T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3852T>A	7.37:g.43547716T>A	ENSP00000379228:p.Phe1284Leu					HECW1_uc011kbi.1_Missense_Mutation_p.F1250L	p.F1284L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			23	4457	+			1284			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3852T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348047	0.82132	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.57752	0.38;0.38	5.85	2.17	0.27698	HECT (3);	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.93241	3.395	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68943	0.961;0.958	T	0.76288	-0.3014	10	0.87932	D	0	.	9.5318	0.39198	0.0:0.2635:0.0:0.7365	.	1250;1284	B4DH42;Q76N89	.;HECW1_HUMAN	L	1284;1250;1284	ENSP00000379228:F1284L;ENSP00000407774:F1250L	ENSP00000265522:F1284L	F	+	3	2	HECW1	43514241	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.486000	0.22340	0.133000	0.18654	-0.256000	0.11100	TTT		0.532	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	63	0	0	0	0.004482	0	6	63				
IGFBP1	3484	broad.mit.edu	37	7	45930211	45930212	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:45930211_45930212CC>GA	ENST00000275525.3	+	2	710_711	c.414_415CC>GA	c.(412-417)ttCCat>ttGAat	p.138_139FH>LN	IGFBP1_ENST00000468955.1_Missense_Mutation_p.138_139FH>LN|IGFBP1_ENST00000457280.1_Missense_Mutation_p.138_139FH>LN	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	138					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)	p.F138_H139>LN(1)		large_intestine(2)|lung(4)	6						TGGATAATTTCCATCTGATGGC	0.52											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003tnp.2		NA																	1	Complex - compound substitution(1)		lung(1)	lung(1)	1						c.(412-417)TTCCAT>TTGAAT		insulin-like growth factor binding protein 1																																				SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930211_45930212CC>GA		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	Exception_encountered	7.37:g.45930211_45930212delinsGA	ENSP00000275525:p.F138_H139delinsLN		OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP1_uc003tno.3_Missense_Mutation_p.138_139FH>LN|IGFBP1_uc010kyn.2_Missense_Mutation_p.138_139FH>LN	p.138_139FH>LN	NM_000596	NP_000587	P08833	IBP1_HUMAN			2	707_708	+			138_139					A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	DNP	ENST00000275525.3	37	c.414_415CC>GA	CCDS5504.1																																																																																				0.520	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		14	158	0	0	0	0.004672	0	14	158				
TNS3	64759	broad.mit.edu	37	7	47342932	47342932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:47342932C>A	ENST00000398879.1	-	22	3439	c.3073G>T	c.(3073-3075)Gcc>Tcc	p.A1025S	TNS3_ENST00000355730.3_Missense_Mutation_p.A785S|TNS3_ENST00000311160.9_Missense_Mutation_p.A1025S			Q68CZ2	TENS3_HUMAN	tensin 3	1025					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.A1025S(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCACTGGGGCGGTGCCGAAG	0.677																																							uc003tnv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3073-3075)GCC>TCC		tensin 3							16.0	19.0	18.0					7																	47342932		1941	4126	6067	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47342932C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3073G>T	7.37:g.47342932C>A	ENSP00000381854:p.Ala1025Ser					TNS3_uc003tnw.2_Missense_Mutation_p.A1025S	p.A1025S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			22	3440	-			1025					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3073G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.172916	0.01646	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.56	-0.916	0.10489	.	1.074330	0.07307	N	0.875173	T	0.27349	0.0671	N	0.24115	0.695	0.09310	N	1	B	0.33583	0.418	B	0.26517	0.07	T	0.12066	-1.0562	10	0.05525	T	0.97	-2.1817	5.3144	0.15847	0.0:0.3272:0.3259:0.3469	.	1025	Q68CZ2	TENS3_HUMAN	S	1025;1135;1025;785;481;1128	ENSP00000312143:A1025S;ENSP00000381854:A1025S;ENSP00000347968:A785S;ENSP00000414358:A1128S	ENSP00000312143:A1025S	A	-	1	0	TNS3	47309457	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.753000	0.04792	-0.151000	0.11176	-1.105000	0.02106	GCC		0.677	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		6	30	1	0	0.00198382	0.001984	0.00212876	6	30				
PKD1L1	168507	broad.mit.edu	37	7	47942094	47942094	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:47942094G>C	ENST00000289672.2	-	13	1996	c.1946C>G	c.(1945-1947)aCa>aGa	p.T649R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	649	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T649R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GACCTCCACTGTAAATTCTCC	0.473																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(1945-1947)ACA>AGA		polycystin-1L1							81.0	80.0	80.0					7																	47942094		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47942094G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1946C>G	7.37:g.47942094G>C	ENSP00000289672:p.Thr649Arg						p.T649R	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			13	1946	-			649			Extracellular (Potential).|PKD 2.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1946C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238384	0.22711	.	.	ENSG00000158683	ENST00000289672	T	0.62364	0.03	5.14	4.26	0.50523	PKD/Chitinase domain (1);PKD domain (4);	0.680699	0.13614	N	0.374927	T	0.65396	0.2687	L	0.46741	1.465	0.24703	N	0.99325	P	0.48089	0.905	P	0.54401	0.751	T	0.53436	-0.8439	10	0.21014	T	0.42	-12.1271	11.4675	0.50248	0.0887:0.0:0.9113:0.0	.	649	Q8TDX9	PK1L1_HUMAN	R	649	ENSP00000289672:T649R	ENSP00000289672:T649R	T	-	2	0	PKD1L1	47908619	0.998000	0.40836	0.003000	0.11579	0.107000	0.19398	2.804000	0.47931	1.179000	0.42884	0.650000	0.86243	ACA		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		20	74	0	0	0	0.002299	0	20	74				
IKZF1	10320	broad.mit.edu	37	7	50444306	50444306	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:50444306C>A	ENST00000331340.3	+	4	391	c.236C>A	c.(235-237)gCg>gAg	p.A79E	IKZF1_ENST00000359197.5_Missense_Mutation_p.A79E|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.A79E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.A79E|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.A79E|IKZF1_ENST00000440768.2_Missense_Mutation_p.A79E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	79					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)|p.A79E(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAGAATGTGCGGAGGATTTA	0.493			"""D,T"""	BCL6	"""ALL, DLBCL"""																																		uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		132	Unknown(131)|Substitution - Missense(1)	p.?(74)	haematopoietic_and_lymphoid_tissue(131)|lung(1)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(235-237)GCG>GAG		zinc finger protein, subfamily 1A, 1 (Ikaros)							141.0	147.0	145.0					7																	50444306		1977	4156	6133	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444306C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.236C>A	7.37:g.50444306C>A	ENSP00000331614:p.Ala79Glu					IKZF1_uc003tox.3_Missense_Mutation_p.A79E|IKZF1_uc003toy.3_Missense_Mutation_p.A79E|IKZF1_uc011kck.1_Intron|IKZF1_uc003toz.3_Missense_Mutation_p.A49E|IKZF1_uc010kyx.2_Intron	p.A79E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			5	404	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	79					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.236C>A		.	.	.	.	.	.	.	.	.	.	C	12.48	1.951792	0.34471	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.06294	3.43;3.32;4.43;3.53;3.45;3.43	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.11591	-1.0581	9	0.08381	T	0.77	-11.0677	17.4837	0.87682	0.0:1.0:0.0:0.0	.	79;79	Q13422-7;Q13422	.;IKZF1_HUMAN	E	79	ENSP00000352123:A79E;ENSP00000401507:A79E;ENSP00000342485:A79E;ENSP00000349928:A79E;ENSP00000331614:A79E;ENSP00000413025:A79E	ENSP00000331614:A79E	A	+	2	0	IKZF1	50411800	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.125000	0.50469	2.204000	0.70986	0.313000	0.20887	GCG		0.493	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		16	139	1	0	0.000566183	0.00499	0.000626686	16	139				
POM121L12	285877	broad.mit.edu	37	7	53103526	53103526	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:53103526C>G	ENST00000408890.4	+	1	178	c.162C>G	c.(160-162)ccC>ccG	p.P54P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	54								p.P54P(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGGCCCCTGAGGTCCC	0.701																																							uc003tpz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(160-162)CCC>CCG		POM121 membrane glycoprotein-like 12							28.0	34.0	32.0					7																	53103526		1990	4159	6149	SO:0001819	synonymous_variant	285877							g.chr7:53103526C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.162C>G	7.37:g.53103526C>G							p.P54P	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	178	+			54					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.162C>G	CCDS43584.1																																																																																				0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		15	81	0	0	0	0.00499	0	15	81				
EGFR	1956	broad.mit.edu	37	7	55220275	55220275	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:55220275G>T	ENST00000275493.2	+	6	842	c.665G>T	c.(664-666)cGc>cTc	p.R222L	EGFR_ENST00000455089.1_Missense_Mutation_p.R177L|EGFR_ENST00000344576.2_Missense_Mutation_p.R222L|EGFR_ENST00000442591.1_Missense_Mutation_p.R222L|EGFR_ENST00000420316.2_Missense_Mutation_p.R222L|EGFR_ENST00000342916.3_Missense_Mutation_p.R222L|EGFR_ENST00000454757.2_Missense_Mutation_p.R169L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCTCCGGGCGCTGCCGTGGC	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)|p.R222C(2)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(664-666)CGC>CTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						87.0	100.0	95.0					7																	55220275		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220275G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.665G>T	7.37:g.55220275G>T	ENSP00000275493:p.Arg222Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R222L|EGFR_uc003tqi.2_Missense_Mutation_p.R222L|EGFR_uc003tqj.2_Missense_Mutation_p.R222L|EGFR_uc010kzg.1_Missense_Mutation_p.R177L|EGFR_uc011kco.1_Missense_Mutation_p.R169L|EGFR_uc003tql.1_RNA	p.R222L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	911	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.665G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394965	0.96009	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.998;0.998;0.999	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:0.0:1.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	L	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177L;ENSP00000342376:R222L;ENSP00000345973:R222L;ENSP00000413843:R222L;ENSP00000275493:R222L;ENSP00000410031:R222L;ENSP00000395243:R169L	ENSP00000275493:R222L	R	+	2	0	EGFR	55187769	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.513000	0.98010	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		50	242	1	0	9.55421e-19	0.00361	1.69699e-18	50	242				
EGFR	1956	broad.mit.edu	37	7	55231427	55231427	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:55231427G>C	ENST00000275493.2	+	14	1810	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	EGFR_ENST00000455089.1_Splice_Site_p.E500Q|EGFR_ENST00000344576.2_Splice_Site_p.E545Q|EGFR_ENST00000442591.1_Splice_Site_p.E545Q|EGFR_ENST00000342916.3_Splice_Site_p.E545Q|EGFR_ENST00000454757.2_Splice_Site_p.E492Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	545					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E545Q(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCCTCTCAGTGAGCCAAGGGA	0.517		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1633-1635)GAG>CAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						132.0	126.0	128.0					7																	55231427		2203	4300	6503	SO:0001630	splice_region_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55231427G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1632-1G>C	7.37:g.55231427G>C		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.E545Q|EGFR_uc003tqj.2_Missense_Mutation_p.E545Q|EGFR_uc010kzg.1_Missense_Mutation_p.E500Q|EGFR_uc011kco.1_Missense_Mutation_p.E492Q|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.2_5'Flank	p.E545Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	1879	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		545			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1633G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920685	0.33908	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.84	4.95	0.65309	Growth factor, receptor (1);	0.106561	0.64402	D	0.000002	T	0.58694	0.2140	M	0.78223	2.4	0.58432	D	0.999996	B;B;D;P	0.67145	0.056;0.075;0.996;0.767	B;B;P;B	0.58077	0.074;0.021;0.832;0.344	T	0.59506	-0.7442	10	0.45353	T	0.12	.	13.0985	0.59206	0.0771:0.0:0.9229:0.0	.	500;545;545;545	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	Q	500;545;415;545;545;545;492;339	ENSP00000415559:E500Q;ENSP00000342376:E545Q;ENSP00000345973:E545Q;ENSP00000275493:E545Q;ENSP00000410031:E545Q;ENSP00000395243:E492Q	ENSP00000275493:E545Q	E	+	1	0	EGFR	55198921	1.000000	0.71417	0.967000	0.41034	0.037000	0.13140	4.978000	0.63799	2.779000	0.95612	0.655000	0.94253	GAG		0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	Missense_Mutation	16	139	0	0	0	0.00499	0	16	139				
ASL	435	broad.mit.edu	37	7	65552346	65552346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:65552346G>T	ENST00000304874.9	+	9	730	c.628G>T	c.(628-630)Ggt>Tgt	p.G210C	ASL_ENST00000395331.3_Missense_Mutation_p.G210C|ASL_ENST00000380839.4_Missense_Mutation_p.G184C|ASL_ENST00000395332.3_Missense_Mutation_p.G210C|AC068533.7_ENST00000450043.1_5'Flank	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	210					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.G210C(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAATCCCCTGGGTGTGGACCG	0.627																																							uc003tuo.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(628-630)GGT>TGT		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						82.0	68.0	73.0					7																	65552346		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65552346G>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.628G>T	7.37:g.65552346G>T	ENSP00000307188:p.Gly210Cys					ASL_uc003tup.2_Missense_Mutation_p.G210C|ASL_uc003tur.2_Missense_Mutation_p.G184C|ASL_uc003tuq.2_Missense_Mutation_p.G210C	p.G210C	NM_000048	NP_000039	P04424	ARLY_HUMAN			9	739	+			210					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.628G>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.355265	0.41700	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62	5.72	4.83	0.62350	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.172374	0.51477	D	0.000081	D	0.99230	0.9732	M	0.73372	2.23	0.37717	D	0.924767	D;D;D	0.60575	0.988;0.978;0.986	D;P;D	0.67382	0.951;0.867;0.941	D	0.99905	1.1176	10	0.87932	D	0	.	15.2638	0.73646	0.0728:0.0:0.9272:0.0	.	184;210;210	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	C	210;184;210;145;210	ENSP00000307188:G210C;ENSP00000370219:G184C;ENSP00000378741:G210C;ENSP00000354710:G145C;ENSP00000378740:G210C	ENSP00000307188:G210C	G	+	1	0	ASL	65189781	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	1.996000	0.40776	0.779000	0.33543	-1.134000	0.01955	GGT		0.627	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		11	81	1	0	6.31663e-08	0.003163	8.32627e-08	11	81				
WBSCR17	64409	broad.mit.edu	37	7	70853231	70853231	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:70853231C>A	ENST00000333538.5	+	3	1067	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	145					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L145I(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGTAAGGAGCTCAAGTACTC	0.517																																							uc003tvy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(433-435)CTC>ATC		UDP-GalNAc:polypeptide							102.0	94.0	97.0					7																	70853231		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853231C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.433C>A	7.37:g.70853231C>A	ENSP00000329654:p.Leu145Ile					WBSCR17_uc003tvz.2_5'UTR	p.L145I	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	433	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	145			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.433C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213458	0.39102	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.59638	0.25;0.25	5.54	5.54	0.83059	.	1.580830	0.03314	N	0.190956	T	0.51398	0.1672	N	0.13235	0.315	0.52501	D	0.999955	B	0.19706	0.038	B	0.15484	0.013	T	0.04855	-1.0922	10	0.49607	T	0.09	.	18.8463	0.92208	0.0:1.0:0.0:0.0	.	145	Q6IS24	GLTL3_HUMAN	I	145;123	ENSP00000329654:L145I;ENSP00000392019:L123I	ENSP00000329654:L145I	L	+	1	0	WBSCR17	70491167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.927000	0.40094	2.760000	0.94817	0.655000	0.94253	CTC		0.517	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		10	120	1	0	2.27111e-07	0.001368	2.92893e-07	10	120				
TYW1B	441250	broad.mit.edu	37	7	72286021	72286021	+	RNA	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:72286021C>G	ENST00000435769.2	-	0	297				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ACAGGCAGATCCAGGGACGTA	0.353																																							uc011kej.1		NA																	0					0						c.(175-177)GAT>CAT		tRNA-yW synthesizing protein 1 homolog B isoform							156.0	136.0	142.0					7																	72286021		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72286021C>G	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.72286021C>G						TYW1B_uc011keh.1_Missense_Mutation_p.D59H|TYW1B_uc011kek.1_RNA	p.D59H	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			3	334	-			59			Flavodoxin-like.		A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.175G>C																																																																																					0.353	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		15	96	0	0	0	0.004007	0	15	96				
FKBP6	8468	broad.mit.edu	37	7	72744205	72744205	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:72744205G>C	ENST00000252037.4	+	4	387	c.318G>C	c.(316-318)gaG>gaC	p.E106D	FKBP6_ENST00000413573.2_Missense_Mutation_p.E76D|TRIM50_ENST00000333149.2_5'Flank|TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.E101D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	106	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E106D(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGGAGAGCTGGCCAGGT	0.542																																							uc003tya.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(316-318)GAG>GAC		FK506 binding protein 6 isoform a							138.0	118.0	125.0					7																	72744205		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744205G>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.318G>C	7.37:g.72744205G>C	ENSP00000252037:p.Glu106Asp					FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.E101D|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.E106D	NM_003602	NP_003593	O75344	FKBP6_HUMAN			4	450	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	106			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.318G>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411268	0.83340	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.59906	0.6;0.6;0.23;0.6	4.52	3.62	0.41486	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.69060	-0.5245	10	0.87932	D	0	-20.4243	10.4224	0.44359	0.099:0.0:0.901:0.0	.	101;106	O75344-2;O75344	.;FKBP6_HUMAN	D	101;101;76;106	ENSP00000416277:E101D;ENSP00000402360:E101D;ENSP00000394952:E76D;ENSP00000252037:E106D	ENSP00000252037:E106D	E	+	3	2	FKBP6	72382141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	0.895000	0.36342	0.485000	0.47835	GAG		0.542	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		14	66	0	0	0	0.001855	0	14	66				
HIP1	3092	broad.mit.edu	37	7	75203140	75203140	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:75203140G>A	ENST00000336926.6	-	8	697	c.671C>T	c.(670-672)cCg>cTg	p.P224L	HIP1_ENST00000434438.2_Missense_Mutation_p.P224L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.P224L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGATCAGCGGGGCGAGGCG	0.542			T	PDGFRB	CMML																																		uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(670-672)CCG>CTG		huntingtin interacting protein 1							77.0	79.0	78.0					7																	75203140		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75203140G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.671C>T	7.37:g.75203140G>A	ENSP00000336747:p.Pro224Leu					HIP1_uc011kfz.1_Missense_Mutation_p.P101L	p.P224L	NM_005338	NP_005329	O00291	HIP1_HUMAN			8	712	-			224					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.671C>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906191	0.92107	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.33654	1.4;1.4	5.67	5.67	0.87782	ANTH (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.68239	-0.5461	10	0.87932	D	0	-36.5206	18.7514	0.91818	0.0:0.0:1.0:0.0	.	224;224	E7ES17;O00291	.;HIP1_HUMAN	L	224	ENSP00000336747:P224L;ENSP00000410300:P224L	ENSP00000336747:P224L	P	-	2	0	HIP1	75041076	1.000000	0.71417	0.868000	0.34077	0.700000	0.40528	9.869000	0.99810	2.680000	0.91292	0.591000	0.81541	CCG		0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		18	84	0	0	0	0.002299	0	18	84				
RHBDD2	57414	broad.mit.edu	37	7	75517556	75517556	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:75517556G>A	ENST00000006777.6	+	4	1119	c.984G>A	c.(982-984)ctG>ctA	p.L328L	RHBDD2_ENST00000318622.4_Silent_p.L187L|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Silent_p.L187L	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	328						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)	p.L328L(1)|p.L187L(1)		kidney(1)|lung(4)|prostate(1)	6						GCACCTCCCTGGGCATCCAGC	0.652																																							uc003udw.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(982-984)CTG>CTA		rhomboid domain containing 2 isoform a							76.0	85.0	82.0					7																	75517556		1983	4163	6146	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517556G>A	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.984G>A	7.37:g.75517556G>A						RHBDD2_uc003udv.1_Silent_p.L187L	p.L328L	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN			4	1068	+			328					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.984G>A	CCDS43602.1																																																																																				0.652	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		21	304	0	0	0	0.00278	0	21	304				
POMZP3	22932	broad.mit.edu	37	7	76254966	76254966	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:76254966G>T	ENST00000310842.4	-	3	784	c.100C>A	c.(100-102)Cca>Aca	p.P34T	POMZP3_ENST00000275569.4_Missense_Mutation_p.P34T|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	34								p.P34T(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TTACTTGATGGTGAGGACAGT	0.413																																							uc003uft.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(100-102)CCA>ACA		POMZP3 fusion protein isoform 1							231.0	214.0	219.0					7																	76254966		2203	4300	6503	SO:0001583	missense	22932							g.chr7:76254966G>T	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.100C>A	7.37:g.76254966G>T	ENSP00000309233:p.Pro34Thr					uc003ufs.1_Intron|POMZP3_uc003ufu.2_Missense_Mutation_p.P34T|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	p.P34T	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN			3	847	-		Myeloproliferative disorder(862;0.204)	34					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.100C>A	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.006319	0.35415	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.34667	1.79;1.35	0.694	0.694	0.18062	.	0.205178	0.40908	U	0.000997	T	0.49389	0.1554	M	0.79475	2.455	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.26052	-1.0114	10	0.54805	T	0.06	.	4.8171	0.13372	0.0:0.0:1.0:0.0	.	34	Q6PJE2	POZP3_HUMAN	T	34	ENSP00000309233:P34T;ENSP00000405319:P34T	ENSP00000275569:P34T	P	-	1	0	POMZP3	76092902	0.924000	0.31332	0.112000	0.21494	0.931000	0.56810	0.309000	0.19332	0.690000	0.31570	0.472000	0.43445	CCA		0.413	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		29	392	1	0	1.30897e-18	0.009535	2.32077e-18	29	392				
RSBN1L	222194	broad.mit.edu	37	7	77402527	77402527	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:77402527C>G	ENST00000334955.8	+	6	1716	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	RSBN1L_ENST00000445288.1_Silent_p.L293L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	563						nucleus (GO:0005634)		p.L563L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGAGATGCTCTTTGAAGACA	0.403																																							uc010ldt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1687-1689)CTC>CTG		round spermatid basic protein 1-like							109.0	103.0	105.0					7																	77402527		1978	4204	6182	SO:0001819	synonymous_variant	222194					nucleus		g.chr7:77402527C>G	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1689C>G	7.37:g.77402527C>G						RSBN1L_uc003ugm.2_Silent_p.L345L	p.L563L	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			6	1733	+			563					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	c.1689C>G	CCDS43607.1																																																																																				0.403	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		8	145	0	0	0	0.006214	0	8	145				
MAGI2	9863	broad.mit.edu	37	7	77756539	77756539	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:77756539G>T	ENST00000354212.4	-	19	3651	c.3398C>A	c.(3397-3399)cCt>cAt	p.P1133H	MAGI2_ENST00000522391.1_Missense_Mutation_p.P1133H|MAGI2_ENST00000419488.1_Missense_Mutation_p.P1119H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1133					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P1133H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTCCGACAGAGGGTACTGCCT	0.617																																							uc003ugx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3397-3399)CCT>CAT		membrane associated guanylate kinase, WW and PDZ							93.0	97.0	96.0					7																	77756539		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756539G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3398C>A	7.37:g.77756539G>T	ENSP00000346151:p.Pro1133His					MAGI2_uc003ugy.2_Missense_Mutation_p.P1119H|MAGI2_uc010ldx.1_Missense_Mutation_p.P726H	p.P1133H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			19	3652	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1133					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3398C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582235	0.65992	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.19394	2.15;2.15;2.15	5.33	5.33	0.75918	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002564	T	0.35098	0.0920	N	0.24115	0.695	0.80722	D	1	D;B;D	0.89917	1.0;0.27;1.0	D;B;D	0.87578	0.996;0.182;0.998	T	0.09292	-1.0681	10	0.45353	T	0.12	.	19.3798	0.94527	0.0:0.0:1.0:0.0	.	1133;1119;1133	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	1119;1133;1133;1133	ENSP00000405766:P1119H;ENSP00000346151:P1133H;ENSP00000428389:P1133H	ENSP00000346151:P1133H	P	-	2	0	MAGI2	77594475	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.644000	0.89710	0.655000	0.94253	CCT		0.617	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		45	217	1	0	2.01872e-29	0.00361	3.86839e-29	45	217				
HGF	3082	broad.mit.edu	37	7	81335050	81335050	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:81335050A>C	ENST00000222390.5	-	16	2003	c.1777T>G	c.(1777-1779)Ttt>Gtt	p.F593V	HGF_ENST00000457544.2_Missense_Mutation_p.F588V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	593	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.F593V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTACTAACAAAATCATCCAGG	0.363																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1777-1779)TTT>GTT		hepatocyte growth factor isoform 1							84.0	76.0	79.0					7																	81335050		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81335050A>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1777T>G	7.37:g.81335050A>C	ENSP00000222390:p.Phe593Val					HGF_uc003uhm.2_Missense_Mutation_p.F588V	p.F593V	NM_000601	NP_000592	P14210	HGF_HUMAN			16	1942	-			593			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1777T>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	9.359	1.067598	0.20067	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88741	-2.42;-2.42	5.02	5.02	0.67125	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.218604	0.50627	D	0.000112	T	0.77512	0.4141	N	0.17838	0.53	0.80722	D	1	P;P	0.41569	0.711;0.755	B;B	0.30855	0.121;0.12	T	0.77555	-0.2544	10	0.22109	T	0.4	.	14.2015	0.65707	1.0:0.0:0.0:0.0	.	588;593	P14210-3;P14210	.;HGF_HUMAN	V	593;588	ENSP00000222390:F593V;ENSP00000391238:F588V	ENSP00000222390:F593V	F	-	1	0	HGF	81172986	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.800000	0.55537	2.001000	0.58596	0.477000	0.44152	TTT		0.363	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		6	63	0	0	0	0.001168	0	6	63				
HGF	3082	broad.mit.edu	37	7	81355333	81355333	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:81355333C>A	ENST00000222390.5	-	9	1267	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	HGF_ENST00000457544.2_Splice_Site_p.K342N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	347	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.K347N(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTCGTAGGTCCCTATTGAGAA	0.408																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1039-1041)AAG>AAT		hepatocyte growth factor isoform 1							98.0	98.0	98.0					7																	81355333		2203	4300	6503	SO:0001630	splice_region_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81355333C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1041-1G>T	7.37:g.81355333C>A						HGF_uc003uhm.2_Missense_Mutation_p.K342N	p.K347N	NM_000601	NP_000592	P14210	HGF_HUMAN			9	1206	-			347			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1041G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120094	0.56613	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.67698	-0.28;-0.28	5.51	3.47	0.39725	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77800	-0.2452	10	0.27082	T	0.32	.	11.3801	0.49752	0.0:0.759:0.0:0.241	.	342;347	P14210-3;P14210	.;HGF_HUMAN	N	347;342	ENSP00000222390:K347N;ENSP00000391238:K342N	ENSP00000222390:K347N	K	-	3	2	HGF	81193269	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	0.823000	0.27366	1.324000	0.45282	-0.216000	0.12614	AAG		0.408	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	Missense_Mutation	16	70	1	0	5.01169e-05	0.00499	5.78137e-05	16	70				
PCLO	27445	broad.mit.edu	37	7	82474642	82474642	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82474642C>A	ENST00000333891.9	-	13	14328	c.13991G>T	c.(13990-13992)aGc>aTc	p.S4664I	PCLO_ENST00000423517.2_Missense_Mutation_p.S4664I|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S4664I(2)		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						TTGCCCAGGGCTGGGAACGGA	0.512																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13990-13992)AGC>ATC		piccolo isoform 1							68.0	68.0	68.0					7																	82474642		2002	4167	6169	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.chr7:82474642C>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.13991G>T	7.37:g.82474642C>A	ENSP00000334319:p.Ser4664Ile					PCLO_uc003uhv.2_Missense_Mutation_p.S4664I|PCLO_uc003uht.1_Missense_Mutation_p.S115I|PCLO_uc003uhu.1_Missense_Mutation_p.S94I	p.S4664I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14280	-			4552						Missense_Mutation	SNP	ENST00000333891.9	37	c.13991G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136076	0.56936	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20200	2.1;2.09	5.53	5.53	0.82687	.	.	.	.	.	T	0.46444	0.1393	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.34800	-0.9814	9	0.87932	D	0	.	19.827	0.96621	0.0:1.0:0.0:0.0	.	4664;4664;94;161	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	I	4664;4664;160	ENSP00000334319:S4664I;ENSP00000388393:S4664I	ENSP00000334319:S4664I	S	-	2	0	PCLO	82312578	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.205000	0.77881	2.759000	0.94783	0.561000	0.74099	AGC		0.512	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	41	1	0	5.9392e-07	0.001168	7.50215e-07	6	41				
PCLO	27445	broad.mit.edu	37	7	82476482	82476482	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82476482C>A	ENST00000333891.9	-	11	14073	c.13736G>T	c.(13735-13737)aGt>aTt	p.S4579I	PCLO_ENST00000423517.2_Missense_Mutation_p.S4579I|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S4579I(2)		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						TGCTTCCCCACTTTGCTGACT	0.343																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13735-13737)AGT>ATT		piccolo isoform 1							117.0	114.0	115.0					7																	82476482		1863	4097	5960	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.chr7:82476482C>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.13736G>T	7.37:g.82476482C>A	ENSP00000334319:p.Ser4579Ile					PCLO_uc003uhv.2_Missense_Mutation_p.S4579I|PCLO_uc003uht.1_Missense_Mutation_p.S30I|PCLO_uc003uhu.1_Missense_Mutation_p.V12L	p.S4579I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			11	14025	-			4467			PDZ.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13736G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628893	0.28978	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.29397	1.57;1.57	5.77	3.92	0.45320	.	.	.	.	.	T	0.31827	0.0809	L	0.40543	1.245	0.80722	D	1	P;P;B	0.39003	0.654;0.654;0.101	B;B;B	0.43916	0.436;0.436;0.037	T	0.07712	-1.0758	9	0.87932	D	0	.	11.7544	0.51868	0.0:0.8524:0.0:0.1476	.	4579;4579;76	Q9Y6V0-5;Q9Y6V0-6;Q32P40	.;.;.	I	4579;4579;75	ENSP00000334319:S4579I;ENSP00000388393:S4579I	ENSP00000334319:S4579I	S	-	2	0	PCLO	82314418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.932000	0.40143	0.739000	0.32628	0.591000	0.81541	AGT		0.343	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	18	1	0	0.00116845	0.001168	0.00126555	6	18				
PCLO	27445	broad.mit.edu	37	7	82579983	82579983	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82579983C>A	ENST00000333891.9	-	6	10258	c.9921G>T	c.(9919-9921)ctG>ctT	p.L3307L	PCLO_ENST00000437081.1_Silent_p.L27L|PCLO_ENST00000423517.2_Silent_p.L3307L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L3307L(2)|p.L3238L(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						TTTGCTCCTCCAGCTGCTGGT	0.498																																							uc003uhx.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(9919-9921)CTG>CTT		piccolo isoform 1							138.0	128.0	131.0					7																	82579983		1979	4164	6143	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.chr7:82579983C>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.9921G>T	7.37:g.82579983C>A						PCLO_uc003uhv.2_Silent_p.L3307L|PCLO_uc010lec.2_Silent_p.L272L	p.L3307L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10210	-			3238			Gln-rich.			Silent	SNP	ENST00000333891.9	37	c.9921G>T	CCDS47630.1																																																																																				0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		38	125	1	0	3.61848e-18	0.007835	6.36956e-18	38	125				
SEMA3A	10371	broad.mit.edu	37	7	83689790	83689790	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:83689790G>T	ENST00000265362.4	-	5	852	c.538C>A	c.(538-540)Ctt>Att	p.L180I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L180I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	180	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.L180I(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCTATTAAAAGGGATGCTGTC	0.343																																							uc003uhz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|kidney(1)	4						c.(538-540)CTT>ATT		semaphorin 3A precursor							112.0	116.0	114.0					7																	83689790		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83689790G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.538C>A	7.37:g.83689790G>T	ENSP00000265362:p.Leu180Ile						p.L180I	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			5	853	-			180			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.538C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450458	0.43531	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.10960	2.82;2.82	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.212576	0.48767	D	0.000179	T	0.08492	0.0211	N	0.16478	0.41	0.47659	D	0.999483	B	0.02656	0.0	B	0.14023	0.01	T	0.22661	-1.0210	10	0.40728	T	0.16	.	14.8815	0.70537	0.0:0.0:0.8565:0.1435	.	180	Q14563	SEM3A_HUMAN	I	180	ENSP00000265362:L180I;ENSP00000415260:L180I	ENSP00000265362:L180I	L	-	1	0	SEMA3A	83527726	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.727000	0.54984	2.810000	0.96702	0.650000	0.86243	CTT		0.343	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		20	130	1	0	2.98393e-07	0.00278	3.83565e-07	20	130				
GATAD1	57798	broad.mit.edu	37	7	92083958	92083958	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:92083958C>G	ENST00000287957.3	+	4	855	c.578C>G	c.(577-579)tCt>tGt	p.S193C	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	193						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S193C(1)		endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTACCCTCTCTAGCCCCAGA	0.428																																							uc003ulx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)TCT>TGT		GATA zinc finger domain containing 1							122.0	119.0	120.0					7																	92083958		2203	4300	6503	SO:0001583	missense	57798						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:92083958C>G		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"""GATA zinc finger domain containing"""	29941	protein-coding gene	gene with protein product	"""ocular development associated gene"""	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.578C>G	7.37:g.92083958C>G	ENSP00000287957:p.Ser193Cys					GATAD1_uc011khq.1_RNA	p.S193C	NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	857	+	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		193					B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	c.578C>G	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316512	0.60524	.	.	ENSG00000157259	ENST00000287957	D	0.88277	-2.36	5.79	4.9	0.64082	.	0.338236	0.33670	N	0.004679	D	0.86740	0.6005	L	0.40543	1.245	0.28481	N	0.914964	B	0.26876	0.162	B	0.36186	0.219	T	0.82991	-0.0182	10	0.72032	D	0.01	-21.2019	14.3165	0.66454	0.0:0.9291:0.0:0.0709	.	193	Q8WUU5	GATD1_HUMAN	C	193	ENSP00000287957:S193C	ENSP00000287957:S193C	S	+	2	0	GATAD1	91921894	0.947000	0.32204	0.498000	0.27564	0.928000	0.56348	3.706000	0.54830	2.753000	0.94483	0.555000	0.69702	TCT		0.428	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		20	137	0	0	0	0.001882	0	20	137				
DLX6	1750	broad.mit.edu	37	7	96637038	96637038	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:96637038C>G	ENST00000518156.2	+	2	955	c.525C>G	c.(523-525)tcC>tcG	p.S175S	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Silent_p.S47S|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S147S			P56179	DLX6_HUMAN	distal-less homeobox 6	57					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S147S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCATTTATTCCAGCCTGCAGC	0.458																																							uc003uom.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(439-441)TCC>TCG		distal-less homeobox 6							47.0	47.0	47.0					7																	96637038		1852	4103	5955	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96637038C>G		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.525C>G	7.37:g.96637038C>G						DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	p.S147S	NM_005222	NP_005213	P56179	DLX6_HUMAN			3	441	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		57			Homeobox.		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.441C>G	CCDS47647.2																																																																																				0.458	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		4	18	0	0	0	0.001984	0	4	18				
ASNS	440	broad.mit.edu	37	7	97488585	97488585	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:97488585G>C	ENST00000394309.3	-	5	1084	c.613C>G	c.(613-615)Cat>Gat	p.H205D	ASNS_ENST00000394308.3_Missense_Mutation_p.H205D|ASNS_ENST00000175506.4_Missense_Mutation_p.H205D|ASNS_ENST00000422745.1_Missense_Mutation_p.H184D|ASNS_ENST00000444334.1_Missense_Mutation_p.H184D|ASNS_ENST00000455086.1_Missense_Mutation_p.H122D|ASNS_ENST00000437628.1_Missense_Mutation_p.H122D	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.H205D(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGACAGTGATGATATTTAACC	0.458																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)CAT>GAT		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						112.0	114.0	113.0					7																	97488585		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488585G>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.613C>G	7.37:g.97488585G>C	ENSP00000377846:p.His205Asp					ASNS_uc011kin.1_Missense_Mutation_p.H122D|ASNS_uc003uou.3_Missense_Mutation_p.H205D|ASNS_uc003uov.3_Missense_Mutation_p.H205D|ASNS_uc011kio.1_Missense_Mutation_p.H184D|ASNS_uc003uow.3_Missense_Mutation_p.H184D|ASNS_uc003uox.3_Missense_Mutation_p.H122D	p.H205D	NM_133436	NP_597680	P08243	ASNS_HUMAN			5	1119	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		205					A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.613C>G	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193749	0.38707	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.42513	0.98;0.98;0.97;0.98;0.98;0.97;0.98;0.97	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	L	0.34521	1.04	0.80722	D	1	P	0.41597	0.756	B	0.41374	0.355	T	0.37820	-0.9689	10	0.72032	D	0.01	-10.5878	15.2563	0.73588	0.0:0.0:1.0:0.0	.	205	P08243	ASNS_HUMAN	D	205;205;122;205;184;122;184;205	ENSP00000175506:H205D;ENSP00000377846:H205D;ENSP00000414379:H122D;ENSP00000377845:H205D;ENSP00000414901:H184D;ENSP00000408472:H122D;ENSP00000406994:H184D;ENSP00000400422:H205D	ENSP00000175506:H205D	H	-	1	0	ASNS	97326521	1.000000	0.71417	0.910000	0.35882	0.129000	0.20672	8.831000	0.92068	2.278000	0.76064	0.655000	0.94253	CAT		0.458	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		6	121	0	0	0	0.001984	0	6	121				
TRRAP	8295	broad.mit.edu	37	7	98589832	98589833	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:98589832_98589833CG>AT	ENST00000359863.4	+	64	10050_10051	c.9841_9842CG>AT	c.(9841-9843)CGg>ATg	p.R3281M	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3252M|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3252M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3281					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R3281L(1)|p.R3281M(1)|p.R3252L(1)|p.R3252M(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATAGAACAGCGGGAACGCTAC	0.594																																							uc003upp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9841-9843)CGG>ATG		transformation/transcription domain-associated																																				SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98589832_98589833CG>AT	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	Exception_encountered	7.37:g.98589832_98589833delinsAT	ENSP00000352925:p.Arg3281Met					TRRAP_uc011kis.1_Missense_Mutation_p.R3252M|TRRAP_uc003upr.2_Missense_Mutation_p.R2969M	p.R3281M	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		64	10050_10051	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3281					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	DNP	ENST00000359863.4	37	c.9841_9842CG>AT	CCDS59066.1																																																																																				0.594	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		46	316	0	0	0	0.004672	0	46	316				
GAL3ST4	79690	broad.mit.edu	37	7	99764641	99764641	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:99764641C>T	ENST00000360039.4	-	2	470	c.78G>A	c.(76-78)atG>atA	p.M26I	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.M26I|GAL3ST4_ENST00000482469.1_5'UTR|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D66N|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M26I|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M26I	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	26					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.M26I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCAATGGTCATGAAGACTC	0.627																																							uc003utt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(76-78)ATG>ATA		galactose-3-O-sulfotransferase 4							31.0	32.0	32.0					7																	99764641		2201	4294	6495	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764641C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.78G>A	7.37:g.99764641C>T	ENSP00000353142:p.Met26Ile					GAL3ST4_uc003utu.2_Missense_Mutation_p.M26I|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D66N	p.M26I	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			1	1095	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		26			Helical; Signal-anchor for type II membrane protein; (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.78G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.609938|2.609938	0.46527|0.46527	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000426974|ENST00000413800;ENST00000360039;ENST00000423751;ENST00000411994	T|T;T	0.32023|0.12984	1.47|2.63;2.63	5.08|5.08	4.19|4.19	0.49359|0.49359	.|.	.|0.254858	.|0.30602	.|U	.|0.009272	T|T	0.10252|0.10252	0.0251|0.0251	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	0.999993|0.999993	P|B	0.47409|0.22604	0.895|0.072	P|B	0.47044|0.22753	0.535|0.041	T|T	0.25537|0.25537	-1.0129|-1.0129	9|10	0.27785|0.23302	T|T	0.31|0.38	-10.9311|-10.9311	12.5741|12.5741	0.56354|0.56354	0.1677:0.8322:0.0:0.0|0.1677:0.8322:0.0:0.0	.|.	66|26	B4DWL8|Q96RP7	.|G3ST4_HUMAN	N|I	66|26	ENSP00000398304:D66N|ENSP00000400451:M26I;ENSP00000353142:M26I	ENSP00000398304:D66N|ENSP00000353142:M26I	D|M	-|-	1|3	0|0	GAL3ST4|GAL3ST4	99602577|99602577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.033000|2.033000	0.41136|0.41136	1.128000|1.128000	0.42052|0.42052	0.462000|0.462000	0.41574|0.41574	GAC|ATG		0.627	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		5	10	0	0	0	0.001168	0	5	10				
FBXO24	26261	broad.mit.edu	37	7	100190547	100190547	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100190547C>T	ENST00000241071.6	+	5	1022	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	FBXO24_ENST00000465843.1_Missense_Mutation_p.R220W|FBXO24_ENST00000360609.2_Missense_Mutation_p.R220W|FBXO24_ENST00000427939.2_Missense_Mutation_p.R272W|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R222W	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	234					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R234W(1)|p.R272W(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TAGTGGGCAGCGGGTCTTCAA	0.592																																							uc003uvm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(700-702)CGG>TGG		F-box only protein 24 isoform 1							108.0	88.0	95.0					7																	100190547		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190547C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.700C>T	7.37:g.100190547C>T	ENSP00000241071:p.Arg234Trp					FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.R220W|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.R272W|FBXO24_uc011kka.1_Missense_Mutation_p.R222W	p.R234W	NM_033506	NP_277041	O75426	FBX24_HUMAN			5	993	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		234					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.700C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239978	0.79912	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.62941	1.81;-0.01;-0.01;1.82;1.78	5.74	4.85	0.62838	.	0.000000	0.56097	D	0.000021	T	0.65565	0.2703	N	0.19112	0.55	0.44643	D	0.997629	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.995	T	0.69822	-0.5041	10	0.87932	D	0	-25.9405	11.6778	0.51440	0.3219:0.6781:0.0:0.0	.	222;272;234;220	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	W	234;220;220;222;272	ENSP00000241071:R234W;ENSP00000353821:R220W;ENSP00000419602:R220W;ENSP00000420239:R222W;ENSP00000416558:R272W	ENSP00000241071:R234W	R	+	1	2	FBXO24	100028483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.162000	0.50755	1.411000	0.46957	0.558000	0.71614	CGG		0.592	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			10	81	0	0	0	0.008291	0	10	81				
ZAN	7455	broad.mit.edu	37	7	100349995	100349995	+	RNA	SNP	C	C	A	rs193274459	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100349995C>A	ENST00000348028.3	+	0	2432				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P756Q(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATCTCCCCAGAAAAACCC	0.517																																							uc003uwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2266-2268)CCA>CAA		zonadhesin isoform 3							118.0	131.0	127.0					7																	100349995		1819	4059	5878			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349995C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349995C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P756Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P756Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2432	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		756			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2267C>A		.	.	.	.	.	.	.	.	.	.	c	10.75	1.439599	0.25900	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.65364	0.01;-0.15;0.01	4.07	2.24	0.28232	.	.	.	.	.	T	0.48960	0.1529	L	0.27053	0.805	0.30835	N	0.736324	P;B	0.36249	0.545;0.41	B;B	0.38755	0.281;0.146	T	0.53194	-0.8473	9	0.72032	D	0.01	.	8.3207	0.32128	0.0:0.7946:0.0:0.2054	.	756;756	F5H0T8;Q9Y493	.;ZAN_HUMAN	Q	756	ENSP00000445943:P756Q;ENSP00000445091:P756Q;ENSP00000444427:P756Q	ENSP00000423579:P756Q	P	+	2	0	ZAN	100187931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.484000	0.06528	0.446000	0.26666	0.650000	0.86243	CCA		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	78	1	0	6.31663e-08	0.003163	8.32627e-08	14	78				
MUC17	140453	broad.mit.edu	37	7	100675863	100675863	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100675863G>C	ENST00000306151.4	+	3	1230	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	389	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.S389T(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)					TCAACTCTTAGTGAAGGAAGC	0.458																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1165-1167)AGT>ACT		mucin 17 precursor							193.0	202.0	199.0					7																	100675863		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675863G>C	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.1166G>C	7.37:g.100675863G>C	ENSP00000302716:p.Ser389Thr					MUC17_uc010lho.1_RNA	p.S389T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1219	+	Lung NSC(181;0.136)|all_lung(186;0.182)		389			Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1166G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.264	-0.997542	0.02145	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.06	-2.12	0.07165	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.49103	-0.8974	9	0.15066	T	0.55	.	8.6763	0.34181	0.0:0.6874:0.3125:0.0	.	389	Q685J3	MUC17_HUMAN	T	389	ENSP00000302716:S389T	ENSP00000302716:S389T	S	+	2	0	MUC17	100462583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.292000	0.08332	-0.817000	0.04335	-0.890000	0.02929	AGT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		32	281	0	0	0	0.002445	0	32	281				
MYL10	93408	broad.mit.edu	37	7	101256815	101256815	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:101256815G>A	ENST00000223167.4	-	8	798	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	207	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.C207C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCAGGTTGCCGCACACATCTG	0.557																																					Esophageal Squamous(24;575 709 17516 40384 51639)	Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(619-621)TGC>TGT		myosin, light chain 10, regulatory							142.0	122.0	129.0					7																	101256815		2203	4300	6503	SO:0001819	synonymous_variant	93408					mitochondrion	calcium ion binding	g.chr7:101256815G>A	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.621C>T	7.37:g.101256815G>A							p.C207C	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			8	799	-			207			EF-hand 3.			Silent	SNP	ENST00000223167.4	37	c.621C>T	CCDS34713.1																																																																																				0.557	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		17	153	0	0	0	0.008871	0	17	153				
RELN	5649	broad.mit.edu	37	7	103138649	103138649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103138649C>T	ENST00000428762.1	-	54	8877	c.8718G>A	c.(8716-8718)tgG>tgA	p.W2906*	RELN_ENST00000424685.2_Nonsense_Mutation_p.W2906*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.W2906*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2906					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.W2906*(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)		CTAAGGACATCCATAAGTCAG	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8716-8718)TGG>TGA		reelin isoform a							123.0	109.0	114.0					7																	103138649		2203	4300	6503	SO:0001587	stop_gained	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.chr7:103138649C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8718G>A	7.37:g.103138649C>T	ENSP00000392423:p.Trp2906*					RELN_uc010liz.2_Nonsense_Mutation_p.W2906*	p.W2906*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8878	-			2906					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.8718G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	51	18.184336	0.99900	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	2906;2906;2906;423;2906	.	ENSP00000345694:W2906X	W	-	3	0	RELN	102925885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.793000	0.96121	0.655000	0.94253	TGG		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	89	0	0	0	0.001882	0	20	89				
RELN	5649	broad.mit.edu	37	7	103162509	103162509	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103162509C>A	ENST00000428762.1	-	48	7787	c.7628G>T	c.(7627-7629)tGt>tTt	p.C2543F	RELN_ENST00000424685.2_Missense_Mutation_p.C2543F|RELN_ENST00000343529.5_Missense_Mutation_p.C2543F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2543					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.C2543F(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)		CACGGCTCCACACACTGTACT	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7627-7629)TGT>TTT		reelin isoform a							145.0	128.0	134.0					7																	103162509		2203	4300	6503	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.chr7:103162509C>A		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.7628G>T	7.37:g.103162509C>A	ENSP00000392423:p.Cys2543Phe					RELN_uc010liz.2_Missense_Mutation_p.C2543F	p.C2543F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	48	7788	-			2543					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7628G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606972	0.87157	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21191	2.02;2.02;2.02	5.42	5.42	0.78866	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	T	0.55698	-0.8100	10	0.87932	D	0	.	19.5822	0.95471	0.0:1.0:0.0:0.0	.	2543;2543	P78509-2;P78509	.;RELN_HUMAN	F	2543;2543;2543;60;2543	ENSP00000392423:C2543F;ENSP00000345694:C2543F;ENSP00000388446:C2543F	ENSP00000345694:C2543F	C	-	2	0	RELN	102949745	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.411000	0.80078	2.704000	0.92352	0.563000	0.77884	TGT		0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	100	1	0	7.93312e-07	0.00245	9.92523e-07	12	100				
RELN	5649	broad.mit.edu	37	7	103252227	103252227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103252227G>T	ENST00000428762.1	-	21	2885	c.2726C>A	c.(2725-2727)gCc>gAc	p.A909D	RELN_ENST00000424685.2_Missense_Mutation_p.A909D|RELN_ENST00000343529.5_Missense_Mutation_p.A909D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	909					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.A909D(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)		CATACTTGAGGCAAGTTTAGA	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2725-2727)GCC>GAC		reelin isoform a							108.0	104.0	105.0					7																	103252227		2203	4300	6503	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.chr7:103252227G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2726C>A	7.37:g.103252227G>T	ENSP00000392423:p.Ala909Asp					RELN_uc010liz.2_Missense_Mutation_p.A909D	p.A909D	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	21	2886	-			909					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2726C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.868090	0.32977	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.72	5.72	0.89469	.	0.184998	0.48767	D	0.000161	T	0.15869	0.0382	N	0.01874	-0.695	0.40470	D	0.98033	B;P	0.38250	0.328;0.624	B;B	0.40565	0.333;0.245	T	0.36432	-0.9748	10	0.72032	D	0.01	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	909;909	P78509-2;P78509	.;RELN_HUMAN	D	909	ENSP00000392423:A909D;ENSP00000345694:A909D;ENSP00000388446:A909D	ENSP00000345694:A909D	A	-	2	0	RELN	103039463	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.732000	0.62029	2.703000	0.92315	0.655000	0.94253	GCC		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	55	1	0	1.5739e-10	0.004007	2.31324e-10	15	55				
PIK3CG	5294	broad.mit.edu	37	7	106522623	106522623	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:106522623A>G	ENST00000359195.3	+	7	2910	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.Y867C|PIK3CG_ENST00000466738.1_3'UTR|PIK3CG_ENST00000440650.2_Missense_Mutation_p.Y867C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	867	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.Y867C(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						CTCCTGCCATATGGTTGCATT	0.373																																							uc003vdv.3		NA																	1	Substitution - Missense(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.(2599-2601)TAT>TGT		phosphoinositide-3-kinase, catalytic, gamma							116.0	104.0	108.0					7																	106522623		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106522623A>G		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.2600A>G	7.37:g.106522623A>G	ENSP00000352121:p.Tyr867Cys					PIK3CG_uc003vdu.2_Missense_Mutation_p.Y867C|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y867C	p.Y867C	NM_002649	NP_002640	P48736	PK3CG_HUMAN			7	2685	+			867			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2600A>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350111	0.82132	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.92	5.92	0.95590	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98387	1.0561	10	0.87932	D	0	-7.2836	16.3526	0.83220	1.0:0.0:0.0:0.0	.	867	P48736	PK3CG_HUMAN	C	867;867;140;867	ENSP00000392258:Y867C;ENSP00000419260:Y867C;ENSP00000417623:Y140C;ENSP00000352121:Y867C	ENSP00000352121:Y867C	Y	+	2	0	PIK3CG	106309859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.160000	0.94734	2.255000	0.74692	0.533000	0.62120	TAT		0.373	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			6	58	0	0	0	0.001984	0	6	58				
GPR22	2845	broad.mit.edu	37	7	107114721	107114721	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107114721A>T	ENST00000304402.4	+	3	1559	c.216A>T	c.(214-216)ttA>ttT	p.L72F	COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	72					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L72F(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AATCCAACTTAATCAACTCTG	0.358																																							uc003vef.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(214-216)TTA>TTT		G protein-coupled receptor 22							171.0	162.0	165.0					7																	107114721		2203	4299	6502	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114721A>T	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.216A>T	7.37:g.107114721A>T	ENSP00000302676:p.Leu72Phe					COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.L72F	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	1562	+			72			Cytoplasmic (Potential).		O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.216A>T	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598852	0.46318	.	.	ENSG00000172209	ENST00000304402	T	0.51325	0.71	5.17	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.073648	0.53938	D	0.000055	T	0.62636	0.2444	M	0.63843	1.955	0.52501	D	0.999952	D	0.76494	0.999	D	0.83275	0.996	T	0.64622	-0.6364	10	0.59425	D	0.04	-7.1887	10.5992	0.45356	0.9239:0.0:0.0761:0.0	.	72	Q99680	GPR22_HUMAN	F	72	ENSP00000302676:L72F	ENSP00000302676:L72F	L	+	3	2	GPR22	106901957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.329000	0.52060	2.077000	0.62373	0.528000	0.53228	TTA		0.358	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			16	137	0	0	0	0.00499	0	16	137				
BCAP29	55973	broad.mit.edu	37	7	107224400	107224400	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107224400A>T	ENST00000005259.4	+	3	505	c.166A>T	c.(166-168)Atc>Ttc	p.I56F	BCAP29_ENST00000379119.2_Missense_Mutation_p.I56F|BCAP29_ENST00000379117.2_Missense_Mutation_p.I56F|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.I56F	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	56					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I56F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CCTTACCATTATCATCCTATT	0.274																																							uc003vej.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(166-168)ATC>TTC		B-cell receptor-associated protein BAP29 isoform							130.0	130.0	130.0					7																	107224400		2201	4295	6496	SO:0001583	missense	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107224400A>T		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.166A>T	7.37:g.107224400A>T	ENSP00000005259:p.Ile56Phe					BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Missense_Mutation_p.I56F|BCAP29_uc011kma.1_Missense_Mutation_p.I56F	p.I56F	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			3	505	+			56			Helical; (Potential).		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	c.166A>T	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038767	0.93630	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000473124;ENST00000379119;ENST00000491150	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.82617	-0.0369	9	0.87932	D	0	-24.7453	16.0549	0.80794	1.0:0.0:0.0:0.0	.	56;56;56	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	F	56;56;56;56;56;56;56;56;13	.	ENSP00000005259:I56F	I	+	1	0	BCAP29	107011636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.824000	0.92023	2.193000	0.70182	0.477000	0.44152	ATC		0.274	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		10	104	0	0	0	0.008291	0	10	104				
LAMB4	22798	broad.mit.edu	37	7	107671272	107671272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107671272G>T	ENST00000388781.3	-	32	5054	c.4971C>A	c.(4969-4971)caC>caA	p.H1657Q	LAMB4_ENST00000205386.4_Missense_Mutation_p.H1657Q|LAMB4_ENST00000388780.3_Missense_Mutation_p.H1657Q|LAMB4_ENST00000483484.1_Intron	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1657	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.H1657Q(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						TCCCAGCCTGGTGTTGGGCAG	0.493																																							uc010ljo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4969-4971)CAC>CAA		laminin, beta 4 precursor							252.0	201.0	218.0					7																	107671272		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107671272G>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.4971C>A	7.37:g.107671272G>T	ENSP00000373433:p.His1657Gln					LAMB4_uc003vey.2_Missense_Mutation_p.H1657Q|LAMB4_uc010ljp.1_Missense_Mutation_p.H626Q	p.H1657Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			32	5055	-			1657			Potential.|Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4971C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081073	0.07141	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.75938	1.6;1.6;-0.98;1.62	4.95	1.88	0.25563	.	1.473130	0.04125	N	0.316918	T	0.47284	0.1437	N	0.03608	-0.345	0.26446	N	0.975693	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46843	-0.9162	10	0.07644	T	0.81	.	3.8332	0.08883	0.2248:0.2056:0.5696:0.0	.	1657;1657	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Q	1657;1657;683;1657	ENSP00000205386:H1657Q;ENSP00000373433:H1657Q;ENSP00000416562:H683Q;ENSP00000373432:H1657Q	ENSP00000205386:H1657Q	H	-	3	2	LAMB4	107458508	0.053000	0.20554	0.282000	0.24776	0.406000	0.30931	0.041000	0.13927	0.665000	0.31066	-0.291000	0.09656	CAC		0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		26	194	1	0	8.16721e-17	0.002096	1.40376e-16	26	194				
NRCAM	4897	broad.mit.edu	37	7	107880434	107880434	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107880434C>G	ENST00000425651.2	-	1	74	c.75G>C	c.(73-75)caG>caC	p.Q25H	NRCAM_ENST00000379024.4_Missense_Mutation_p.Q25H|NRCAM_ENST00000413765.2_Missense_Mutation_p.Q25H|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q25H|NRCAM_ENST00000379028.3_Missense_Mutation_p.Q25H|NRCAM_ENST00000379022.4_Missense_Mutation_p.Q25H	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	25					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.Q25H(3)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACTAATCATCTGGCACAGGA	0.453																																							uc003vfb.2		NA																	3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)	ovary(3)|breast(2)	5						c.(73-75)CAG>CAC		neuronal cell adhesion molecule isoform A							126.0	123.0	124.0					7																	107880434		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880434C>G		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.75G>C	7.37:g.107880434C>G	ENSP00000401244:p.Gln25His					NRCAM_uc003vfc.2_Missense_Mutation_p.Q25H|NRCAM_uc011kmk.1_Missense_Mutation_p.Q20H|NRCAM_uc003vfd.2_Missense_Mutation_p.Q20H|NRCAM_uc003vfe.2_Missense_Mutation_p.Q20H	p.Q25H	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			4	546	-			25			Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.75G>C	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528964	0.27387	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.75938	0.3;0.55;0.33;0.38;0.3;0.28;-0.3;-0.98;-0.9;-0.9	6.17	5.29	0.74685	.	0.221723	0.47852	D	0.000213	T	0.57036	0.2026	N	0.21194	0.64	0.37072	D	0.898595	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.0;0.001;0.001	T	0.55945	-0.8060	10	0.23302	T	0.38	.	7.6514	0.28350	0.0:0.7335:0.0:0.2665	.	25;25;25;25;25	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	H	25	ENSP00000368314:Q25H;ENSP00000407858:Q25H;ENSP00000325269:Q25H;ENSP00000368310:Q25H;ENSP00000401244:Q25H;ENSP00000368308:Q25H;ENSP00000390421:Q25H;ENSP00000390868:Q25H;ENSP00000397544:Q25H;ENSP00000408203:Q25H	ENSP00000325269:Q25H	Q	-	3	2	NRCAM	107667670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.802000	0.27069	1.602000	0.50124	0.655000	0.94253	CAG		0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	114	0	0	0	0.001368	0	9	114				
IMMP2L	83943	broad.mit.edu	37	7	110526731	110526731	+	Missense_Mutation	SNP	C	C	A	rs544301226		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:110526731C>A	ENST00000405709.2	-	5	768	c.326G>T	c.(325-327)cGg>cTg	p.R109L	IMMP2L_ENST00000450877.1_Missense_Mutation_p.R91L|IMMP2L_ENST00000415362.1_Missense_Mutation_p.R109L|IMMP2L_ENST00000452895.1_Missense_Mutation_p.R109L|IMMP2L_ENST00000331762.3_Missense_Mutation_p.R109L|IMMP2L_ENST00000489381.1_Intron	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	109					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.R109L(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TTTGACATACCGGTTTTTGTG	0.418																																							uc003vfq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CGG>CTG		IMP2 inner mitochondrial membrane protease-like							124.0	114.0	117.0					7																	110526731		2203	4300	6503	SO:0001583	missense	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110526731C>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.326G>T	7.37:g.110526731C>A	ENSP00000384966:p.Arg109Leu					IMMP2L_uc010ljr.1_Missense_Mutation_p.R109L	p.R109L	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	5	769	-			109					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	c.326G>T	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307548	0.40795	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.58	3.73	0.42828	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.109909	0.56097	D	0.000021	T	0.43322	0.1242	L	0.29908	0.895	0.80722	D	1	B	0.31383	0.321	B	0.33121	0.158	T	0.30208	-0.9986	9	0.29301	T	0.29	-5.4053	9.9187	0.41450	0.0:0.7447:0.0:0.2553	.	109	Q96T52	IMP2L_HUMAN	L	109;109;109;91;109	.	ENSP00000329553:R109L	R	-	2	0	IMMP2L	110313967	0.996000	0.38824	0.995000	0.50966	0.943000	0.58893	3.407000	0.52644	1.328000	0.45358	0.484000	0.47621	CGG		0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		9	48	1	0	1.58986e-06	0.008291	1.96659e-06	9	48				
LRRN3	54674	broad.mit.edu	37	7	110764016	110764016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:110764016C>G	ENST00000422987.3	+	2	2019	c.1188C>G	c.(1186-1188)tgC>tgG	p.C396W	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.C396W|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.C396W|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	396	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C396W(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)		CACTGTTTTGCGTGGACCCAC	0.458																																							uc003vft.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1186-1188)TGC>TGG		leucine rich repeat neuronal 3 precursor							107.0	91.0	96.0					7																	110764016		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764016C>G	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.1188C>G	7.37:g.110764016C>G	ENSP00000412417:p.Cys396Trp					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.C396W|LRRN3_uc003vfs.3_Missense_Mutation_p.C396W	p.C396W	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	2234	+			396			Extracellular (Potential).|LRRCT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1188C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955090	0.34471	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	D;D;D	0.82526	-1.62;-1.62;-1.62	5.91	-3.06	0.05379	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.89223	0.6654	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87625	0.2512	10	0.87932	D	0	.	12.2556	0.54621	0.0:0.3183:0.0:0.6817	.	396	Q9H3W5	LRRN3_HUMAN	W	396	ENSP00000312001:C396W;ENSP00000397312:C396W;ENSP00000412417:C396W	ENSP00000312001:C396W	C	+	3	2	LRRN3	110551252	0.974000	0.33945	0.953000	0.39169	0.888000	0.51559	0.096000	0.15147	-0.779000	0.04560	-1.043000	0.02367	TGC		0.458	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	77	0	0	0	0.001168	0	6	77				
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:112723879G>T	ENST00000297146.3	-	3	1501	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	GPR85_ENST00000424100.1_Missense_Mutation_p.P300T|GPR85_ENST00000501255.2_Missense_Mutation_p.P300T|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.P300T	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458																																							uc010ljv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(898-900)CCC>ACC		G protein-coupled receptor 85							67.0	73.0	71.0					7																	112723879		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723879G>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.898C>A	7.37:g.112723879G>T	ENSP00000297146:p.Pro300Thr					GPR85_uc003vgp.1_Missense_Mutation_p.P300T|GPR85_uc003vgq.2_Missense_Mutation_p.P300T|GPR85_uc010ljw.1_Missense_Mutation_p.P300T	p.P300T	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1415	-			300			Helical; Name=6; (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.898C>A	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044619	0.55110	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90330	0.4351	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	300	P60893	GPR85_HUMAN	T	300	ENSP00000445808:P300T;ENSP00000297146:P300T;ENSP00000396763:P300T;ENSP00000401178:P300T	ENSP00000297146:P300T	P	-	1	0	GPR85	112511115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.608000	0.88229	0.585000	0.79938	CCC		0.458	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			21	107	1	0	7.41877e-09	0.001882	1.0146e-08	21	107				
TFEC	22797	broad.mit.edu	37	7	115614261	115614261	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:115614261T>A	ENST00000265440.7	-	3	410	c.230A>T	c.(229-231)gAg>gTg	p.E77V	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.E167V|TFEC_ENST00000393485.1_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	77	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E77V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGCTCCTTCCTCTTTAAAACT	0.333																																							uc003vhj.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(229-231)GAG>GTG		transcription factor EC isoform a							103.0	97.0	99.0					7																	115614261		2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614261T>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.230A>T	7.37:g.115614261T>A	ENSP00000265440:p.Glu77Val					TFEC_uc003vhk.1_Intron|TFEC_uc003vhl.3_Intron|TFEC_uc011kmw.1_Missense_Mutation_p.E167V	p.E77V	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	414	-			77			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.230A>T	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073909	0.76415	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.18810	2.19;2.44	4.77	4.77	0.60923	.	0.120205	0.53938	D	0.000052	T	0.28830	0.0715	L	0.39245	1.2	0.80722	D	1	D;P	0.61080	0.989;0.838	P;B	0.53912	0.737;0.367	T	0.02190	-1.1198	10	0.56958	D	0.05	-4.2699	12.8617	0.57918	0.0:0.0:0.0:1.0	.	167;77	B7Z757;O14948	.;TFEC_HUMAN	V	77;167	ENSP00000265440:E77V;ENSP00000417432:E167V	ENSP00000265440:E77V	E	-	2	0	TFEC	115401497	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.403000	0.52615	1.782000	0.52362	0.528000	0.53228	GAG		0.333	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		7	58	0	0	0	0.004482	0	7	58				
PTPRZ1	5803	broad.mit.edu	37	7	121650958	121650958	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:121650958G>C	ENST00000393386.2	+	12	2269	c.1858G>C	c.(1858-1860)Gat>Cat	p.D620H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D620H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	620					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D620H(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATAACATATGATGTCCTTAT	0.418																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1858-1860)GAT>CAT		protein tyrosine phosphatase, receptor-type,							54.0	54.0	54.0					7																	121650958		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650958G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1858G>C	7.37:g.121650958G>C	ENSP00000377047:p.Asp620His					PTPRZ1_uc003vjz.2_Missense_Mutation_p.D620H|PTPRZ1_uc011knt.1_Missense_Mutation_p.D70H	p.D620H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2253	+			620			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1858G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	5.920	0.353838	0.11182	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57436	0.6;0.4	5.7	2.74	0.32292	.	0.563293	0.18123	N	0.150989	T	0.61887	0.2383	M	0.72894	2.215	0.09310	N	1	B;B;D	0.60160	0.003;0.002;0.987	B;B;P	0.55667	0.004;0.003;0.781	T	0.53739	-0.8396	10	0.66056	D	0.02	.	9.1943	0.37217	0.0735:0.2768:0.6497:0.0	.	620;620;620	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	H	620	ENSP00000377047:D620H;ENSP00000410000:D620H	ENSP00000377047:D620H	D	+	1	0	PTPRZ1	121438194	0.568000	0.26635	0.014000	0.15608	0.042000	0.13812	1.923000	0.40055	0.753000	0.32945	0.655000	0.94253	GAT		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		10	73	0	0	0	0.008291	0	10	73				
FEZF1	389549	broad.mit.edu	37	7	121942191	121942191	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:121942191C>T	ENST00000442488.2	-	4	1355	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	FEZF1_ENST00000427185.2_Missense_Mutation_p.A380T|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.A426T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	430					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.A426T(2)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGCGTGCGGGCCAGCCCCAGG	0.672																																							uc003vkd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1288-1290)GCC>ACC		FEZ family zinc finger 1 isoform 1							68.0	65.0	66.0					7																	121942191		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942191C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1288G>A	7.37:g.121942191C>T	ENSP00000411145:p.Ala430Thr					FEZF1_uc003vkc.2_Missense_Mutation_p.A380T|uc010lko.1_5'Flank	p.A430T	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1362	-			430					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1288G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	9.448	1.089762	0.20390	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.06687	3.27;3.4;3.29	5.2	-6.34	0.01982	.	1.136990	0.06796	N	0.787876	T	0.03564	0.0102	N	0.08118	0	0.20196	N	0.999925	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.48547	-0.9026	10	0.13853	T	0.58	0.0648	10.0838	0.42406	0.0:0.1392:0.4202:0.4406	.	430;380	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	T	430;426;380	ENSP00000411145:A430T;ENSP00000332777:A426T;ENSP00000392727:A380T	ENSP00000332777:A426T	A	-	1	0	FEZF1	121729427	0.136000	0.22515	0.199000	0.23439	0.917000	0.54804	-0.680000	0.05197	-1.138000	0.02884	-0.258000	0.10820	GCC		0.672	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		8	86	0	0	0	0.008291	0	8	86				
RNF133	168433	broad.mit.edu	37	7	122338605	122338605	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:122338605C>G	ENST00000340112.2	-	1	605	c.368G>C	c.(367-369)gGa>gCa	p.G123A	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	123	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G123A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCACTGGCTCCCTTCTCAGT	0.458																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)GGA>GCA		ring finger protein 133							132.0	129.0	130.0					7																	122338605		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338605C>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.368G>C	7.37:g.122338605C>G	ENSP00000344489:p.Gly123Ala					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.G123A	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	604	-			123			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.368G>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270003	0.80469	.	.	ENSG00000188050	ENST00000340112	T	0.56444	0.46	5.66	5.66	0.87406	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000001	D	0.82472	0.5044	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87696	0.2557	10	0.87932	D	0	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	123	Q8WVZ7	RN133_HUMAN	A	123	ENSP00000344489:G123A	ENSP00000344489:G123A	G	-	2	0	RNF133	122125841	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	6.493000	0.73658	2.665000	0.90641	0.561000	0.74099	GGA		0.458	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		28	149	0	0	0	0.004878	0	28	149				
TAS2R16	50833	broad.mit.edu	37	7	122635593	122635593	+	Silent	SNP	C	C	A	rs374269563		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:122635593C>A	ENST00000249284.2	-	1	161	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	32					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.L32L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCTCTGCCCAGCACTGCAA	0.478																																							uc003vkl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(94-96)CTG>CTT		taste receptor T2R16							61.0	59.0	60.0					7																	122635593		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635593C>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.96G>T	7.37:g.122635593C>A							p.L32L	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	162	-			32			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.96G>T	CCDS5785.1																																																																																				0.478	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		6	59	1	0	0.00116845	0.001168	0.00126555	6	59				
LMOD2	442721	broad.mit.edu	37	7	123302840	123302841	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:123302840_123302841CC>AA	ENST00000458573.2	+	2	1357_1358	c.1200_1201CC>AA	c.(1198-1203)tcCCca>tcAAca	p.P401T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	401	Pro-rich.					cytoskeleton (GO:0005856)		p.P401T(1)									CCTGGTCATCCCCAAAACTCCC	0.564																																							uc003vky.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1198-1203)TCCCCA>TCAACA		leiomodin 2 (cardiac)																																				SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302840_123302841CC>AA	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	Exception_encountered	7.37:g.123302840_123302841delinsAA	ENSP00000411932:p.Pro401Thr						p.P401T	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1357_1358	+			401			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	DNP	ENST00000458573.2	37	c.1200_1201CC>AA	CCDS47693.1																																																																																				0.564	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			6	83	0	0	0	0.004672	0	6	83				
POT1	25913	broad.mit.edu	37	7	124467351	124467351	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:124467351T>A	ENST00000357628.3	-	17	2201	c.1603A>T	c.(1603-1605)Att>Ttt	p.I535F	POT1_ENST00000393329.1_Missense_Mutation_p.I404F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	535					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.I535F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGGGGTACAATACCCAGTGCT	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1603-1605)ATT>TTT		protection of telomeres 1 isoform 1							67.0	64.0	65.0					7																	124467351		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124467351T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1603A>T	7.37:g.124467351T>A	ENSP00000350249:p.Ile535Phe					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.I404F|POT1_uc003vln.2_RNA	p.I535F	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			17	2204	-			535					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1603A>T	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.99|15.99	2.994296|2.994296	0.54041|0.54041	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534;ENST00000451720	T;T|.	0.53423|.	0.63;0.62|.	5.36|5.36	1.54|1.54	0.23209|0.23209	.|.	0.200206|.	0.46758|.	D|.	0.000270|.	T|T	0.61502|0.61502	0.2352|0.2352	M|M	0.68952|0.68952	2.095|2.095	0.40139|0.40139	D|D	0.976815|0.976815	D|.	0.53619|.	0.961|.	P|.	0.52758|.	0.708|.	T|T	0.56396|0.56396	-0.7986|-0.7986	9|5	.|.	.|.	.|.	-12.92|-12.92	8.3822|8.3822	0.32479|0.32479	0.0:0.2404:0.0:0.7596|0.0:0.2404:0.0:0.7596	.|.	535|.	Q9NUX5|.	POTE1_HUMAN|.	F|F	535;404|33;505	ENSP00000350249:I535F;ENSP00000377002:I404F|.	.|.	I|Y	-|-	1|2	0|0	POT1|POT1	124254587|124254587	0.798000|0.798000	0.28890|0.28890	0.968000|0.968000	0.41197|0.41197	0.523000|0.523000	0.34469|0.34469	0.410000|0.410000	0.21098|0.21098	0.017000|0.017000	0.15025|0.15025	-0.274000|-0.274000	0.10170|0.10170	ATT|TAT		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			4	35	0	0	0	0.000602	0	4	35				
POT1	25913	broad.mit.edu	37	7	124532324	124532324	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:124532324T>A	ENST00000357628.3	-	6	718	c.120A>T	c.(118-120)ggA>ggT	p.G40G	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	40	DNA binding.				DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.G40G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCTACCAGTTCCTTTGCTTA	0.378																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(118-120)GGA>GGT		protection of telomeres 1 isoform 1							156.0	170.0	165.0					7																	124532324		2203	4300	6503	SO:0001819	synonymous_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124532324T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.120A>T	7.37:g.124532324T>A						POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	p.G40G	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			6	721	-			40			DNA binding.		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	c.120A>T	CCDS5793.1																																																																																				0.378	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			18	187	0	0	0	0.008871	0	18	187				
SSMEM1	136263	broad.mit.edu	37	7	129855823	129855823	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:129855823A>T	ENST00000297819.3	+	3	299	c.248A>T	c.(247-249)gAg>gTg	p.E83V		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	83						integral component of membrane (GO:0016021)		p.E83V(1)									GCAAGCAAAGAGACTTCCTGT	0.413																																							uc003vpp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAG>GTG		hypothetical protein LOC136263							102.0	95.0	97.0					7																	129855823		2203	4300	6503	SO:0001583	missense	136263					integral to membrane		g.chr7:129855823A>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.248A>T	7.37:g.129855823A>T	ENSP00000297819:p.Glu83Val						p.E83V	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			3	295	+	Melanoma(18;0.0435)		83						Missense_Mutation	SNP	ENST00000297819.3	37	c.248A>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178222	0.38511	.	.	ENSG00000165120	ENST00000297819	T	0.51574	0.7	5.84	5.84	0.93424	.	0.677027	0.14571	N	0.311477	T	0.47544	0.1451	L	0.36672	1.1	0.28654	N	0.906471	D	0.53151	0.958	P	0.51229	0.663	T	0.49380	-0.8946	10	0.72032	D	0.01	-2.8519	8.762	0.34680	0.9162:0.0:0.0838:0.0	.	83	Q8WWF3	CG045_HUMAN	V	83	ENSP00000297819:E83V	ENSP00000297819:E83V	E	+	2	0	C7orf45	129643059	0.997000	0.39634	0.926000	0.36857	0.049000	0.14656	4.703000	0.61824	2.243000	0.73865	0.482000	0.46254	GAG		0.413	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		9	70	0	0	0	0.008291	0	9	70				
KLF14	136259	broad.mit.edu	37	7	130418206	130418206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:130418206G>T	ENST00000310992.4	-	1	682	c.655C>A	c.(655-657)Cac>Aac	p.H219N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	219					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.H219N(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TCACCCGTGTGGGTGCGCTGG	0.632																																							uc003vqk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CAC>AAC		Kruppel-like factor 14							32.0	29.0	30.0					7																	130418206		2203	4300	6503	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418206G>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.655C>A	7.37:g.130418206G>T	ENSP00000310878:p.His219Asn						p.H219N	NM_138693	NP_619638	Q8TD94	KLF14_HUMAN			1	655	-	Melanoma(18;0.0435)		219			C2H2-type 1.		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.655C>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.563033	0.86335	.	.	ENSG00000174595	ENST00000310992	T	0.67345	-0.26	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003552	D	0.85305	0.5666	M	0.93328	3.405	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.89384	0.3684	10	0.87932	D	0	.	14.0687	0.64847	0.0:0.0:1.0:0.0	.	219	Q8TD94	KLF14_HUMAN	N	219	ENSP00000310878:H219N	ENSP00000310878:H219N	H	-	1	0	KLF14	130068746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.059000	0.61396	0.556000	0.70494	CAC		0.632	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		6	37	1	0	2.80697e-09	0.000978	3.89847e-09	6	37				
PLXNA4	91584	broad.mit.edu	37	7	131866287	131866288	+	Missense_Mutation	DNP	GG	GG	TT	rs370899424		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131866287_131866288GG>TT	ENST00000359827.3	-	18	4306_4307	c.3344_3345CC>AA	c.(3343-3345)cCC>cAA	p.P1115Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1115Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1115	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P1115Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAAACTCCTCGGGCCTCTCGGT	0.579																																							uc003vra.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3343-3345)CCC>CAA		plexin A4 isoform 1																																				SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866287_131866288GG>TT	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3344_3345delinsTT	7.37:g.131866287_131866288delinsTT	ENSP00000352882:p.Pro1115Gln						p.P1115Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3573_3574	-			1115			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	DNP	ENST00000359827.3	37	c.3344_3345CC>AA	CCDS43646.1																																																																																				0.579	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		29	114	0	0	0	0.004672	0	29	114				
PLXNA4	91584	broad.mit.edu	37	7	131913153	131913153	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131913153C>A	ENST00000359827.3	-	6	2642	c.1680G>T	c.(1678-1680)cgG>cgT	p.R560R	PLXNA4_ENST00000321063.4_Silent_p.R560R			Q9HCM2	PLXA4_HUMAN	plexin A4	560					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R560R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGACCGTCAGCCGGACACACT	0.592																																							uc003vra.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1678-1680)CGG>CGT		plexin A4 isoform 1							83.0	87.0	86.0					7																	131913153		1991	4170	6161	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913153C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1680G>T	7.37:g.131913153C>A							p.R560R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			6	1909	-			560			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.1680G>T	CCDS43646.1																																																																																				0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	71	1	0	0.000157383	0.00308	0.000177598	7	71				
STRA8	346673	broad.mit.edu	37	7	134928142	134928142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:134928142C>A	ENST00000275764.3	+	4	399	c.399C>A	c.(397-399)agC>agA	p.S133R		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.S133S(1)|p.S133R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AATATGCCAGCATGTATTCTG	0.502																																							uc011kpx.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(397-399)AGC>AGA		STRA8							107.0	94.0	99.0					7																	134928142		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134928142C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.399C>A	7.37:g.134928142C>A	ENSP00000275764:p.Ser133Arg						p.S133R	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			4	399	+			133						Missense_Mutation	SNP	ENST00000275764.3	37	c.399C>A	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	4.403	0.074394	0.08485	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	-2.74	0.05932	.	0.923668	0.09266	N	0.825809	T	0.16769	0.0403	N	0.25647	0.755	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.30504	-0.9976	9	0.11794	T	0.64	-1.7632	1.0611	0.01600	0.2453:0.1736:0.37:0.2111	.	133	Q7Z7C7	STRA8_HUMAN	R	133	.	ENSP00000275764:S133R	S	+	3	2	STRA8	134578682	0.762000	0.28451	0.293000	0.24932	0.790000	0.44656	0.157000	0.16402	-0.447000	0.07138	-0.253000	0.11424	AGC		0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		11	66	1	0	1.49906e-05	0.00245	1.77827e-05	11	66				
DGKI	9162	broad.mit.edu	37	7	137293720	137293720	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:137293720C>A	ENST00000288490.5	-	10	1159	c.1159G>T	c.(1159-1161)Ggc>Tgc	p.G387C	DGKI_ENST00000446122.1_Missense_Mutation_p.G387C|DGKI_ENST00000424189.2_Missense_Mutation_p.G387C|DGKI_ENST00000453654.2_Missense_Mutation_p.G87C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	387	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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.G387C(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						ACCTGGTTGCCTCCACTCTTG	0.383																																							uc003vtt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1159-1161)GGC>TGC		diacylglycerol kinase, iota							112.0	108.0	109.0					7																	137293720		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.chr7:137293720C>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.1159G>T	7.37:g.137293720C>A	ENSP00000288490:p.Gly387Cys					DGKI_uc003vtu.2_Missense_Mutation_p.G87C	p.G387C	NM_004717	NP_004708	O75912	DGKI_HUMAN			10	1160	-			387			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1159G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388715	0.82902	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.49432	0.78;0.78;0.78	5.28	5.28	0.74379	Diacylglycerol kinase, catalytic domain (3);	0.046925	0.85682	N	0.000000	T	0.77425	0.4128	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83146	-0.0106	10	0.87932	D	0	.	19.2666	0.93988	0.0:1.0:0.0:0.0	.	87;387	E9PFX6;O75912	.;DGKI_HUMAN	C	87;335;387;387;387	ENSP00000392161:G87C;ENSP00000288490:G387C;ENSP00000399131:G387C	ENSP00000288490:G387C	G	-	1	0	DGKI	136944260	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.764000	0.74960	2.630000	0.89119	0.563000	0.77884	GGC		0.383	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		9	49	1	0	2.74318e-10	0.006214	3.99599e-10	9	49				
KIAA1549	57670	broad.mit.edu	37	7	138536986	138536986	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:138536986C>A	ENST00000422774.1	-	17	5325	c.5277G>T	c.(5275-5277)ccG>ccT	p.P1759P	KIAA1549_ENST00000440172.1_Silent_p.P1759P|KIAA1549_ENST00000242365.4_Silent_p.P1709P			Q9HCM3	K1549_HUMAN	KIAA1549	1759						integral component of membrane (GO:0016021)		p.P1759P(1)|p.P1709P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGGACCCGTCGGGGGAGTCA	0.323			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5275-5277)CCG>CCT		hypothetical protein LOC57670 isoform 1							52.0	51.0	51.0					7																	138536986		1801	4072	5873	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138536986C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5277G>T	7.37:g.138536986C>A						KIAA1549_uc011kqi.1_Silent_p.P543P|KIAA1549_uc003vuk.3_Silent_p.P1709P|KIAA1549_uc011kqj.1_Silent_p.P1759P|KIAA1549_uc011kqk.1_Silent_p.P543P	p.P1759P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			17	5326	-			1759					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.5277G>T	CCDS56513.1																																																																																				0.323	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	19	1	0	3.86212e-05	0.008291	4.46834e-05	7	19				
HIPK2	28996	broad.mit.edu	37	7	139416276	139416276	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:139416276C>G	ENST00000406875.3	-	2	652	c.558G>C	c.(556-558)ctG>ctC	p.L186L	HIPK2_ENST00000342645.6_Silent_p.L186L|HIPK2_ENST00000428878.2_Silent_p.L186L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	186	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.L186L(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATGCTGCACCAGCTGATAGT	0.572																																							uc003vvf.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(556-558)CTG>CTC		homeodomain interacting protein kinase 2 isoform							111.0	97.0	101.0					7																	139416276		1568	3582	5150	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416276C>G	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.558G>C	7.37:g.139416276C>G						HIPK2_uc003vvd.3_Silent_p.L186L	p.L186L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			2	732	-	Melanoma(164;0.205)		186			Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.558G>C																																																																																					0.572	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		21	109	0	0	0	0.002299	0	21	109				
BRAF	673	broad.mit.edu	37	7	140453096	140453096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:140453096C>A	ENST00000288602.6	-	15	1899	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L613F(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGGATCCAGACAACTGTTCAA	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - Missense(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1837-1839)TTG>TTT		B-Raf	Sorafenib(DB00398)						96.0	89.0	91.0					7																	140453096		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453096C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1839G>T	7.37:g.140453096C>A	ENSP00000288602:p.Leu613Phe						p.L613F	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1900	-	Melanoma(164;0.00956)		613			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1839G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.74|15.74	2.921827|2.921827	0.52653|0.52653	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.82984	.|-1.67	5.65|5.65	3.84|3.84	0.44239|0.44239	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68274|0.68274	0.2983|0.2983	N|N	0.12422|0.12422	0.21|0.21	0.54753|0.54753	D|D	0.999988|0.999988	.|B	.|0.27625	.|0.183	.|B	.|0.24394	.|0.053	T|T	0.64774|0.64774	-0.6328|-0.6328	5|10	.|0.56958	.|D	.|0.05	.|.	11.1383|11.1383	0.48388|0.48388	0.0:0.7945:0.0:0.2055|0.0:0.7945:0.0:0.2055	.|.	.|613	.|P15056	.|BRAF_HUMAN	F|F	221|613	.|ENSP00000288602:L613F	.|ENSP00000288602:L613F	C|L	-|-	2|3	0|2	BRAF|BRAF	140099565|140099565	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.379000|0.379000	0.20585|0.20585	0.750000|0.750000	0.32877|0.32877	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	80	1	0	0.000602214	0.000602	0.000663582	5	80				
PRSS58	136541	broad.mit.edu	37	7	141955042	141955042	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:141955042T>A	ENST00000552471.1	-	3	588	c.269A>T	c.(268-270)cAt>cTt	p.H90L	PRSS58_ENST00000547058.2_Missense_Mutation_p.H90L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.H90L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAAGTGTGGATGATGAATCAT	0.418																																							uc003vxb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CAT>CTT		trypsin X3 precursor							208.0	188.0	195.0					7																	141955042		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955042T>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.269A>T	7.37:g.141955042T>A	ENSP00000446916:p.His90Leu					TRYX3_uc003vxc.3_Missense_Mutation_p.H90L	p.H90L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			3	589	-	Melanoma(164;0.0272)		90			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.269A>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031571	0.75504	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.87412	-2.25;-2.25	4.89	4.89	0.63831	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92668	0.7670	M	0.79614	2.46	0.49299	D	0.999778	D	0.89917	1.0	D	0.79784	0.993	D	0.93407	0.6765	9	0.87932	D	0	.	12.7744	0.57439	0.0:0.0:0.0:1.0	.	90	Q8IYP2	PRS58_HUMAN	L	90	ENSP00000447588:H90L;ENSP00000446916:H90L	ENSP00000307206:H90L	H	-	2	0	PRSS58	141601519	1.000000	0.71417	0.172000	0.22920	0.017000	0.09413	5.384000	0.66225	2.186000	0.69663	0.528000	0.53228	CAT		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		14	145	0	0	0	0.00245	0	14	145				
PRSS1	5644	broad.mit.edu	37	7	142459775	142459775	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142459775A>T	ENST00000311737.7	+	3	357	c.351A>T	c.(349-351)gcA>gcT	p.A117A	PRSS1_ENST00000486171.1_Silent_p.A131A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A117A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCTCACGTGCAGTAATCAACG	0.557																																							uc003wak.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(349-351)GCA>GCT		protease, serine, 1 preproprotein							206.0	188.0	194.0					7																	142459775		2203	4300	6503	SO:0001819	synonymous_variant	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459775A>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.351A>T	7.37:g.142459775A>T						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.A57A	p.A117A	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	368	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	117			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.351A>T	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			31	196	0	0	0	0.002096	0	31	196				
OR6V1	346517	broad.mit.edu	37	7	142749798	142749798	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142749798T>A	ENST00000418316.1	+	1	382	c.361T>A	c.(361-363)Ttt>Att	p.F121I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F121I(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTTGATCGCTTTGTGGCCAT	0.572																																							uc011ksv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(361-363)TTT>ATT		olfactory receptor, family 6, subfamily V,							104.0	109.0	107.0					7																	142749798		2168	4280	6448	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749798T>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.361T>A	7.37:g.142749798T>A	ENSP00000396085:p.Phe121Ile						p.F121I	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	361	+	Melanoma(164;0.059)		121			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.361T>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890166	0.72524	.	.	ENSG00000225781	ENST00000418316	T	0.01369	4.97	4.53	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03915	0.0110	M	0.83774	2.66	0.21553	N	0.999649	D	0.55605	0.972	P	0.47673	0.554	T	0.32375	-0.9909	9	0.87932	D	0	.	7.0713	0.25179	0.0:0.1932:0.0:0.8068	.	121	Q8N148	OR6V1_HUMAN	I	121	ENSP00000396085:F121I	ENSP00000396085:F121I	F	+	1	0	OR6V1	142459920	0.454000	0.25728	0.000000	0.03702	0.996000	0.88848	2.879000	0.48522	0.274000	0.22072	0.533000	0.62120	TTT		0.572	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			26	125	0	0	0	0.00632	0	26	125				
PIP	5304	broad.mit.edu	37	7	142836648	142836648	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142836648G>T	ENST00000291009.3	+	4	394	c.354G>T	c.(352-354)cgG>cgT	p.R118R		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		ATGTTATTCGGGAATTAGGCA	0.453																																							uc003wcf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(352-354)CGG>CGT		prolactin-induced protein precursor							165.0	157.0	160.0					7																	142836648		2203	4299	6502	SO:0001819	synonymous_variant	5304					extracellular region	actin binding	g.chr7:142836648G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.354G>T	7.37:g.142836648G>T							p.R118R	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	390	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	118					A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	c.354G>T	CCDS34768.1																																																																																				0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		47	228	1	0	8.04919e-23	0.00361	1.48322e-22	47	228				
TMEM139	135932	broad.mit.edu	37	7	142983814	142983814	+	Silent	SNP	G	G	A	rs146576406		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142983814G>A	ENST00000359333.3	+	3	1056	c.543G>A	c.(541-543)gcG>gcA	p.A181A	CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000410004.1_Silent_p.A181A|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409541.1_Silent_p.A181A|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409102.1_Silent_p.A181A|TMEM139_ENST00000409244.1_Silent_p.A181A|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	181						integral component of membrane (GO:0016021)		p.A181A(1)		endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AGAGCTTGGCGGCAGTCCCCA	0.567																																							uc010lov.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)GCG>GCA		transmembrane protein 139 precursor		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	112.0	100.0	104.0		543,543,543,114,114,543	0.7	0.0	7	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TMEM139	NM_001242773.1,NM_001242774.1,NM_001242775.1,NM_001242776.1,NM_001242777.1,NM_153345.2	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	181/217,181/217,181/217,38/74,38/74,181/217	142983814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	135932					integral to membrane		g.chr7:142983814G>A	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.543G>A	7.37:g.142983814G>A						CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Silent_p.A181A|TMEM139_uc003wcl.2_Silent_p.A181A|TMEM139_uc003wcm.2_Silent_p.A181A|TMEM139_uc003wcn.2_RNA	p.A181A	NM_153345	NP_699176	Q8IV31	TM139_HUMAN			4	682	+	Melanoma(164;0.059)		181			Cytoplasmic (Potential).		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Silent	SNP	ENST00000359333.3	37	c.543G>A	CCDS5878.1																																																																																				0.567	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		20	139	0	0	0	0.001882	0	20	139				
EPHA1	2041	broad.mit.edu	37	7	143092462	143092462	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143092462C>A	ENST00000275815.3	-	12	2119	c.2033G>T	c.(2032-2034)gGc>gTc	p.G678V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.G678V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTAAACTGGCCCATGATAGT	0.557											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003wcz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(2032-2034)GGC>GTC		ephrin receptor EphA1 precursor							247.0	251.0	250.0					7																	143092462		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143092462C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2033G>T	7.37:g.143092462C>A	ENSP00000275815:p.Gly678Val		OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.G678V	NM_005232	NP_005223	P21709	EPHA1_HUMAN			12	2120	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	678			Protein kinase.|Cytoplasmic (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2033G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834727	0.91036	.	.	ENSG00000146904	ENST00000275815	D	0.82433	-1.61	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.094754	0.46442	D	0.000289	D	0.85440	0.5697	N	0.20807	0.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87865	0.2667	10	0.87932	D	0	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	678	P21709	EPHA1_HUMAN	V	678	ENSP00000275815:G678V	ENSP00000275815:G678V	G	-	2	0	EPHA1	142802584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.583000	0.82559	2.669000	0.90835	0.655000	0.94253	GGC		0.557	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			35	511	1	0	1.35964e-18	0.00361	2.40843e-18	35	511				
OR2A5	393046	broad.mit.edu	37	7	143748015	143748015	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143748015T>A	ENST00000408906.2	+	1	555	c.521T>A	c.(520-522)aTc>aAc	p.I174N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I174N(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCCCATGAAATCAACCACTTC	0.542																																							uc011ktw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(520-522)ATC>AAC		olfactory receptor, family 2, subfamily A,							186.0	190.0	189.0					7																	143748015		2045	4215	6260	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748015T>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.521T>A	7.37:g.143748015T>A	ENSP00000386208:p.Ile174Asn						p.I174N	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	521	+	Melanoma(164;0.0783)		174			Extracellular (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.521T>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065851	0.76187	.	.	ENSG00000221836	ENST00000408906	T	0.00158	8.65	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32372	U	0.006189	T	0.00724	0.0024	H	0.95402	3.665	0.38974	D	0.9588	D	0.89917	1.0	D	0.76575	0.988	T	0.54556	-0.8276	10	0.87932	D	0	.	13.1424	0.59442	0.0:0.0:0.0:1.0	.	174	Q96R48	OR2A5_HUMAN	N	174	ENSP00000386208:I174N	ENSP00000386208:I174N	I	+	2	0	OR2A5	143378948	0.177000	0.23109	1.000000	0.80357	0.982000	0.71751	3.201000	0.51059	2.202000	0.70862	0.455000	0.32223	ATC		0.542	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			33	427	0	0	0	0.004289	0	33	427				
OR2A25	392138	broad.mit.edu	37	7	143771324	143771324	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143771324T>A	ENST00000408898.2	+	1	50	c.12T>A	c.(10-12)aaT>aaA	p.N4K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N4K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGGGGGAAATCAGACTTCCA	0.443																																							uc011ktx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AAT>AAA		olfactory receptor, family 2, subfamily A,							70.0	78.0	75.0					7																	143771324		2195	4299	6494	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771324T>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.12T>A	7.37:g.143771324T>A	ENSP00000386167:p.Asn4Lys						p.N4K	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	12	+	Melanoma(164;0.0783)		4			Extracellular (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.12T>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974825	0.34848	.	.	ENSG00000221933	ENST00000408898	T	0.02158	4.42	4.88	1.09	0.20402	.	.	.	.	.	T	0.05960	0.0155	M	0.92649	3.33	0.09310	N	1	P	0.52316	0.952	B	0.43360	0.417	T	0.27400	-1.0075	9	0.87932	D	0	-7.713	3.2826	0.06921	0.1721:0.1917:0.0:0.6362	.	4	A4D2G3	O2A25_HUMAN	K	4	ENSP00000386167:N4K	ENSP00000386167:N4K	N	+	3	2	OR2A25	143402257	0.017000	0.18338	0.886000	0.34754	0.070000	0.16714	0.063000	0.14410	0.343000	0.23821	0.460000	0.39030	AAT		0.443	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			23	111	0	0	0	0.003954	0	23	111				
OR2A2	442361	broad.mit.edu	37	7	143806779	143806779	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143806779C>T	ENST00000408979.2	+	1	173	c.104C>T	c.(103-105)aCa>aTa	p.T35I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCTTCTATACACTCACCCTG	0.517																																							uc011ktz.1		NA																	0				skin(2)	2						c.(103-105)ACA>ATA		olfactory receptor, family 2, subfamily A,							164.0	162.0	162.0					7																	143806779		2020	4206	6226	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806779C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.104C>T	7.37:g.143806779C>T	ENSP00000386209:p.Thr35Ile						p.T35I	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	104	+	Melanoma(164;0.0783)		35			Helical; Name=1; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.104C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133911	0.09032	.	.	ENSG00000221989	ENST00000408979	T	0.02787	4.16	3.61	-3.09	0.05331	.	0.899723	0.08982	N	0.865716	T	0.01765	0.0056	N	0.13272	0.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49643	-0.8918	10	0.09843	T	0.71	0.2316	10.4403	0.44462	0.0:0.2873:0.0:0.7127	.	35	Q6IF42	OR2A2_HUMAN	I	35	ENSP00000386209:T35I	ENSP00000386209:T35I	T	+	2	0	OR2A2	143437712	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-2.778000	0.00775	-0.956000	0.03631	-0.192000	0.12808	ACA		0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			28	145	0	0	0	0.002096	0	28	145				
ZNF862	643641	broad.mit.edu	37	7	149557754	149557754	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:149557754G>T	ENST00000223210.4	+	7	1750	c.1505G>T	c.(1504-1506)cGg>cTg	p.R502L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	502					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.R502L(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						AAATCATCTCGGTTAGTCAGA	0.448																																							uc010lpn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1504-1506)CGG>CTG		zinc finger protein 862							83.0	87.0	86.0					7																	149557754		1934	4114	6048	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557754G>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.1505G>T	7.37:g.149557754G>T	ENSP00000223210:p.Arg502Leu					ZNF862_uc003wgm.2_RNA	p.R502L	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	1697	+			502			TTF-type 2.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1505G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694546	0.68386	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.19	5.19	0.71726	Zinc finger, TTF-type (1);	0.000000	0.48286	D	0.000194	T	0.06325	0.0163	M	0.78801	2.425	0.30889	N	0.730525	D	0.89917	1.0	D	0.81914	0.995	T	0.04268	-1.0964	10	0.33141	T	0.24	-39.7198	14.2328	0.65906	0.0:0.0:1.0:0.0	.	502	O60290	ZN862_HUMAN	L	502	ENSP00000223210:R502L	ENSP00000223210:R502L	R	+	2	0	ZNF862	149188687	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	3.908000	0.56355	2.431000	0.82371	0.655000	0.94253	CGG		0.448	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		20	158	1	0	2.39556e-15	0.00278	4.0055e-15	20	158				
GIMAP1	170575	broad.mit.edu	37	7	150416163	150416163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150416163G>T	ENST00000307194.5	+	2	168	c.28G>T	c.(28-30)Gaa>Taa	p.E10*		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	10					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.E10*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCGACAGATGAAGAAAATGT	0.413																																							uc003whq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(28-30)GAA>TAA		GTPase, IMAP family member 1							162.0	141.0	149.0					7																	150416163		2203	4300	6503	SO:0001587	stop_gained	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150416163G>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.28G>T	7.37:g.150416163G>T	ENSP00000302833:p.Glu10*					GIMAP1_uc003whp.2_Nonsense_Mutation_p.E18*	p.E10*	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	115	+			10			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Nonsense_Mutation	SNP	ENST00000307194.5	37	c.28G>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697655	0.48307	.	.	ENSG00000213203	ENST00000307194	.	.	.	4.42	2.58	0.30949	.	53.838100	0.01696	U	0.026933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	5.3326	0.15940	0.1047:0.0:0.6948:0.2005	.	.	.	.	X	10	.	ENSP00000302833:E10X	E	+	1	0	GIMAP1	150047096	1.000000	0.71417	0.992000	0.48379	0.065000	0.16274	2.026000	0.41069	0.605000	0.29947	-0.182000	0.12963	GAA		0.413	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		13	101	1	0	3.27435e-08	0.00245	4.3599e-08	13	101				
KCNH2	3757	broad.mit.edu	37	7	150647499	150647499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150647499C>A	ENST00000262186.5	-	9	2556	c.2155G>T	c.(2155-2157)Ggc>Tgc	p.G719C	KCNH2_ENST00000330883.4_Missense_Mutation_p.G379C|KCNH2_ENST00000430723.3_Missense_Mutation_p.G719C|KCNH2_ENST00000392968.2_Missense_Mutation_p.G623C	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	719					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.G719C(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCAGGGAAGCCCTTCAGCACC	0.652																																					GBM(137;110 1844 13671 20123 45161)	GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2155-2157)GGC>TGC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						35.0	35.0	35.0					7																	150647499		2183	4277	6460	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647499C>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2155G>T	7.37:g.150647499C>A	ENSP00000262186:p.Gly719Cys					KCNH2_uc003wib.2_Missense_Mutation_p.G379C|KCNH2_uc011kux.1_Missense_Mutation_p.G623C|KCNH2_uc003wid.2_Missense_Mutation_p.G379C|KCNH2_uc003wie.2_Missense_Mutation_p.G719C	p.G719C	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2168	-	all_neural(206;0.219)		719			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2155G>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307226	0.81247	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	4.76	4.76	0.60689	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	M	0.70275	2.135	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.999;0.998	D;D;P;D;D	0.97110	0.997;1.0;0.848;0.959;0.973	D	0.98530	1.0627	10	0.87932	D	0	.	15.2808	0.73784	0.0:1.0:0.0:0.0	.	623;719;379;719;379	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	C	379;623;719;719	ENSP00000328531:G379C;ENSP00000376695:G623C;ENSP00000262186:G719C;ENSP00000387657:G719C	ENSP00000262186:G719C	G	-	1	0	KCNH2	150278432	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.778000	0.85637	2.193000	0.70182	0.305000	0.20034	GGC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		15	93	1	0	1.02788e-11	0.00499	1.56086e-11	15	93				
TMUB1	83590	broad.mit.edu	37	7	150779566	150779566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150779566C>A	ENST00000392818.3	-	2	442	c.85G>T	c.(85-87)Gtc>Ttc	p.V29F	FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.V29F|TMUB1_ENST00000297533.4_Missense_Mutation_p.V29F|FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000462940.1_Missense_Mutation_p.V29F|TMUB1_ENST00000482202.1_Missense_Mutation_p.V29F|FASTK_ENST00000489884.1_5'Flank|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000482571.1_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	29						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V29F(1)		endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGTTGAGACCCAGGCAAGG	0.662																																							uc003wjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GTC>TTC		transmembrane and ubiquitin-like domain							63.0	64.0	64.0					7																	150779566		2203	4300	6503	SO:0001583	missense	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779566C>A	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.85G>T	7.37:g.150779566C>A	ENSP00000376565:p.Val29Phe					FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Missense_Mutation_p.V29F|TMUB1_uc003wjd.2_Missense_Mutation_p.V29F	p.V29F	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	200	-			29					D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	c.85G>T	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455271	0.43634	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.83	2.59	0.31030	.	0.354692	0.26450	N	0.024302	T	0.22704	0.0548	L	0.29908	0.895	0.31499	N	0.664989	P	0.40476	0.718	B	0.31191	0.125	T	0.21314	-1.0249	10	0.35671	T	0.21	.	7.1202	0.25440	0.0:0.5645:0.3314:0.104	.	29	Q9BVT8	TMUB1_HUMAN	F	29	ENSP00000297533:V29F;ENSP00000376565:V29F;ENSP00000417519:V29F;ENSP00000418709:V29F;ENSP00000419214:V29F;ENSP00000420692:V29F;ENSP00000420516:V29F	ENSP00000297533:V29F	V	-	1	0	TMUB1	150410499	0.974000	0.33945	1.000000	0.80357	0.944000	0.59088	0.094000	0.15107	1.008000	0.39264	0.305000	0.20034	GTC		0.662	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		10	133	1	0	1.76689e-08	0.006214	2.38331e-08	10	133				
DPP6	1804	broad.mit.edu	37	7	154679411	154679411	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:154679411G>C	ENST00000377770.3	+	23	2412	c.2271G>C	c.(2269-2271)ttG>ttC	p.L757F	DPP6_ENST00000404039.1_Missense_Mutation_p.L693F|DPP6_ENST00000332007.3_Missense_Mutation_p.L695F|DPP6_ENST00000427557.1_Missense_Mutation_p.L650F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	757					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.L757F(2)|p.L693F(2)|p.L695F(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGAGGTACTTGGGCCTCCATG	0.577																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	6	Substitution - Missense(6)		lung(6)	pancreas(3)|breast(1)	4						c.(2269-2271)TTG>TTC		dipeptidyl-peptidase 6 isoform 1							216.0	228.0	224.0					7																	154679411		2087	4217	6304	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154679411G>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2271G>C	7.37:g.154679411G>C	ENSP00000367001:p.Leu757Phe					DPP6_uc003wli.2_Missense_Mutation_p.L693F|DPP6_uc003wlm.2_Missense_Mutation_p.L695F|DPP6_uc011kvq.1_Missense_Mutation_p.L650F	p.L757F	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		23	2400	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	757			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2271G>C		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959888	0.53400	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.65	3.73	0.42828	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.50786	0.1636	M	0.73962	2.25	0.53688	D	0.99997	D;D;D;D	0.89917	0.965;1.0;1.0;1.0	P;D;D;D	0.97110	0.861;1.0;1.0;1.0	T	0.47983	-0.9074	10	0.49607	T	0.09	-14.9045	8.2193	0.31532	0.0829:0.0:0.7547:0.1624	.	650;695;757;693	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	F	693;757;695;650	ENSP00000385578:L693F;ENSP00000367001:L757F;ENSP00000328226:L695F;ENSP00000397303:L650F	ENSP00000328226:L695F	L	+	3	2	DPP6	154310344	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.546000	0.45778	0.875000	0.35847	0.563000	0.77884	TTG		0.577	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		80	381	0	0	0	0.00361	0	80	381				
SHH	6469	broad.mit.edu	37	7	155596253	155596253	+	Missense_Mutation	SNP	G	G	A	rs199513347		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:155596253G>A	ENST00000297261.2	-	3	880	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	244					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.R244C(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCGTCGCGGTCCAGGAAA	0.697																																							uc003wmk.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(1)	4						c.(730-732)CGC>TGC		sonic hedgehog preproprotein							13.0	15.0	14.0					7																	155596253		2190	4289	6479	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155596253G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.730C>T	7.37:g.155596253G>A	ENSP00000297261:p.Arg244Cys					SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Missense_Mutation_p.R157C	p.R244C	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	881	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	244					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.730C>T	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023746	0.35701	.	.	ENSG00000164690	ENST00000297261	D	0.99121	-5.45	4.21	3.3	0.37823	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.219310	0.39985	N	0.001211	D	0.99299	0.9755	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.69479	0.664;0.964	D	0.99201	1.0873	10	0.87932	D	0	.	13.1297	0.59373	0.0:0.0:0.8386:0.1614	.	244;247	Q15465;D9ZGF9	SHH_HUMAN;.	C	244	ENSP00000297261:R244C	ENSP00000297261:R244C	R	-	1	0	SHH	155289014	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	3.630000	0.54273	0.943000	0.37553	0.561000	0.74099	CGC		0.697	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		4	6	0	0	0	0.009096	0	4	6				
LMBR1	64327	broad.mit.edu	37	7	156518501	156518501	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:156518501T>C	ENST00000353442.5	-	13	1260	c.1024A>G	c.(1024-1026)Acg>Gcg	p.T342A	LMBR1_ENST00000354505.4_Missense_Mutation_p.T383A|LMBR1_ENST00000359422.4_Missense_Mutation_p.T190A|LMBR1_ENST00000540390.1_Missense_Mutation_p.T321A	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	342					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.T342A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AAACCAAACGTAGAAAGAGAG	0.393																																							uc003wmw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)ACG>GCG		limb region 1 protein							73.0	78.0	76.0					7																	156518501		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156518501T>C	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1024A>G	7.37:g.156518501T>C	ENSP00000326604:p.Thr342Ala					LMBR1_uc003wmv.3_Missense_Mutation_p.T190A|LMBR1_uc003wmx.3_Missense_Mutation_p.T190A|LMBR1_uc010lqn.2_Missense_Mutation_p.T383A|LMBR1_uc011kvx.1_Missense_Mutation_p.T321A	p.T342A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	13	1239	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	342			Helical; (Potential).		A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.1024A>G	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310125	0.40895	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.1	4.0	0.46444	LMBR1-like membrane protein (1);	0.046257	0.85682	N	0.000000	T	0.20333	0.0489	L	0.33485	1.01	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.003	B;B;B	0.17722	0.019;0.005;0.009	T	0.06303	-1.0834	10	0.21540	T	0.41	-4.2142	7.1991	0.25871	0.0:0.1214:0.0:0.8786	.	321;383;342	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	A	342;190;381;383;321	ENSP00000326604:T342A;ENSP00000352392:T190A;ENSP00000408256:T381A;ENSP00000346500:T383A;ENSP00000445509:T321A	ENSP00000326604:T342A	T	-	1	0	LMBR1	156211262	1.000000	0.71417	0.720000	0.30636	0.927000	0.56198	5.465000	0.66725	0.981000	0.38548	0.383000	0.25322	ACG		0.393	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		4	52	0	0	0	0.000602	0	4	52				
NCAPG2	54892	broad.mit.edu	37	7	158482646	158482646	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:158482646C>T	ENST00000409423.1	-	7	710		c.e7-1		NCAPG2_ENST00000275830.10_5'Flank|NCAPG2_ENST00000409339.3_Splice_Site|NCAPG2_ENST00000449727.2_Splice_Site|NCAPG2_ENST00000356309.3_Splice_Site	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CGTCTGCACCCTAGGAATGAC	0.313																																							uc003wnv.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.e6-1		leucine zipper protein 5							41.0	36.0	37.0					7																	158482646		1826	4087	5913	SO:0001630	splice_region_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158482646C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.538-1G>A	7.37:g.158482646C>T						NCAPG2_uc010lqu.1_Splice_Site|NCAPG2_uc003wnw.1_Splice_Site|NCAPG2_uc003wnx.1_Splice_Site_p.G180_splice|NCAPG2_uc011kwe.1_Splice_Site_p.G180_splice	p.G180_splice	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	6	683	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)						A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Splice_Site	SNP	ENST00000409423.1	37	c.538_splice	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940416	0.52972	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5985	0.91239	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCAPG2	158175407	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	5.068000	0.64364	2.729000	0.93468	0.650000	0.86243	.		0.313	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	Intron	6	33	0	0	0	0.001984	0	6	33				
WDR60	55112	broad.mit.edu	37	7	158669353	158669353	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:158669353G>A	ENST00000407559.3	+	4	702	c.544G>A	c.(544-546)Gat>Aat	p.D182N		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	182					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D182N(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGGAGATGAAGATAGAGAAAG	0.343																																							uc003woe.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(544-546)GAT>AAT		WD repeat domain 60							71.0	66.0	68.0					7																	158669353		1828	4081	5909	SO:0001583	missense	55112							g.chr7:158669353G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.544G>A	7.37:g.158669353G>A	ENSP00000384290:p.Asp182Asn						p.D182N	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	4	702	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	182					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.544G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377352	0.61735	.	.	ENSG00000126870	ENST00000407559	T	0.32272	1.46	4.54	4.54	0.55810	.	0.470992	0.21493	N	0.073656	T	0.25419	0.0618	L	0.47716	1.5	0.39361	D	0.965921	P	0.37781	0.608	B	0.30105	0.111	T	0.16988	-1.0384	10	0.54805	T	0.06	-4.2383	13.1657	0.59569	0.0:0.0:1.0:0.0	.	182	Q8WVS4	WDR60_HUMAN	N	182	ENSP00000384290:D182N	ENSP00000384290:D182N	D	+	1	0	WDR60	158362114	0.980000	0.34600	0.908000	0.35775	0.930000	0.56654	4.249000	0.58766	2.231000	0.72958	0.555000	0.69702	GAT		0.343	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		4	14	0	0	0	0.001168	0	4	14				
RP1L1	94137	broad.mit.edu	37	8	10465408	10465408	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:10465408G>T	ENST00000382483.3	-	4	6423	c.6200C>A	c.(6199-6201)gCt>gAt	p.A2067D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2147	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A2067D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCCCTTCAGCCTCCTGTGC	0.627																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6199-6201)GCT>GAT		retinitis pigmentosa 1-like 1							116.0	131.0	126.0					8																	10465408		2067	4191	6258	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465408G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6200C>A	8.37:g.10465408G>T	ENSP00000371923:p.Ala2067Asp						p.A2067D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6429	-			2067					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6200C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.969	-0.700852	0.03279	.	.	ENSG00000183638	ENST00000382483	T	0.04406	3.63	1.16	-0.265	0.12946	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.49133	-0.8971	9	0.15952	T	0.53	.	3.8803	0.09076	0.1845:0.0:0.5696:0.2458	.	2067	A6NKC6	.	D	2067	ENSP00000371923:A2067D	ENSP00000371923:A2067D	A	-	2	0	RP1L1	10502818	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.628000	0.05515	-0.363000	0.08101	-0.359000	0.07587	GCT		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			99	219	1	0	8.16033e-55	0.00361	1.62381e-54	99	219				
RP1L1	94137	broad.mit.edu	37	8	10465814	10465814	+	Nonsense_Mutation	SNP	C	C	A	rs199991672	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:10465814C>A	ENST00000382483.3	-	4	6017	c.5794G>T	c.(5794-5796)Gag>Tag	p.E1932*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2012	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1932*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACTCTGGCTCGTCCTCCCCT	0.607																																							uc003wtc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5794-5796)GAG>TAG		retinitis pigmentosa 1-like 1							123.0	139.0	134.0					8																	10465814		2040	4174	6214	SO:0001587	stop_gained	94137				intracellular signal transduction			g.chr8:10465814C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5794G>T	8.37:g.10465814C>A	ENSP00000371923:p.Glu1932*						p.E1932*	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6023	-			1932					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	ENST00000382483.3	37	c.5794G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	40	7.998938	0.98602	.	.	ENSG00000183638	ENST00000382483	.	.	.	1.24	-2.47	0.06442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	7.9085	0.29776	0.0:0.5928:0.2572:0.1501	.	.	.	.	X	1932	.	ENSP00000371923:E1932X	E	-	1	0	RP1L1	10503224	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.752000	0.01819	-3.587000	0.00136	-2.879000	0.00098	GAG		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			95	214	1	0	1.8585e-67	0.00361	3.70945e-67	95	214				
XKR6	286046	broad.mit.edu	37	8	11058274	11058274	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:11058274C>A	ENST00000416569.2	-	1	601	c.575G>T	c.(574-576)gGg>gTg	p.G192V	AF131215.8_ENST00000602443.1_lincRNA|XKR6_ENST00000297303.4_Missense_Mutation_p.G192V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	192						integral component of membrane (GO:0016021)		p.G192V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCGCCCAGCCCGCCGCCCGT	0.721																																							uc003wtk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(574-576)GGG>GTG		XK, Kell blood group complex subunit-related							14.0	16.0	15.0					8																	11058274		1895	3829	5724	SO:0001583	missense	286046					integral to membrane		g.chr8:11058274C>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.575G>T	8.37:g.11058274C>A	ENSP00000416707:p.Gly192Val						p.G192V	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	1	602	-			192					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.575G>T	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111061	0.56398	.	.	ENSG00000171044	ENST00000416569;ENST00000297303	T;T	0.30182	1.54;1.54	3.62	1.7	0.24286	.	0.858891	0.09529	U	0.789789	T	0.45776	0.1359	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.23013	-1.0200	10	0.49607	T	0.09	-1.8797	7.2281	0.26026	0.0:0.7265:0.1722:0.1013	.	192	Q5GH73	XKR6_HUMAN	V	192	ENSP00000416707:G192V;ENSP00000297303:G192V	ENSP00000297303:G192V	G	-	2	0	XKR6	11095684	.	.	0.986000	0.45419	0.995000	0.86356	.	.	0.127000	0.18452	0.455000	0.32223	GGG		0.721	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		9	37	1	0	0.00621372	0.006214	0.00654636	9	37				
NAT2	10	broad.mit.edu	37	8	18257576	18257576	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:18257576G>C	ENST00000286479.3	+	2	170	c.63G>C	c.(61-63)ttG>ttC	p.L21F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	21					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.L21F(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AATTGGACTTGGAAACATTAA	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														uc003wyw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(61-63)TTG>TTC		N-acetyltransferase 2							130.0	133.0	132.0					8																	18257576		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257576G>C	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.63G>C	8.37:g.18257576G>C	ENSP00000286479:p.Leu21Phe						p.L21F	NM_000015	NP_000006	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	170	+			21					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.63G>C	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953033	0.34471	.	.	ENSG00000156006	ENST00000286479	T	0.04275	3.66	3.02	2.14	0.27477	.	0.081145	0.49916	D	0.000131	T	0.18676	0.0448	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00409	-1.1757	10	0.87932	D	0	.	6.3411	0.21322	0.138:0.0:0.862:0.0	.	21	A4Z6T7	.	F	21	ENSP00000286479:L21F	ENSP00000286479:L21F	L	+	3	2	NAT2	18301856	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.489000	0.35562	0.842000	0.35045	-0.332000	0.08345	TTG		0.398	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		54	122	0	0	0	0.00361	0	54	122				
HR	55806	broad.mit.edu	37	8	21986489	21986489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:21986489G>T	ENST00000381418.4	-	2	1675	c.195C>A	c.(193-195)ttC>ttA	p.F65L	HR_ENST00000312841.8_Missense_Mutation_p.F65L|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	65					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F65L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCCCTGGGGGAAGCCAGGGG	0.662																																							uc003xas.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(193-195)TTC>TTA		hairless protein isoform a							34.0	39.0	37.0					8																	21986489		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986489G>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.195C>A	8.37:g.21986489G>T	ENSP00000370826:p.Phe65Leu					HR_uc003xat.2_Missense_Mutation_p.F65L|HR_uc010lts.2_Missense_Mutation_p.F65L	p.F65L	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	860	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	65					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.195C>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322980	0.41096	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70164	-0.45;-0.46	4.8	0.695	0.18070	.	0.145751	0.32218	N	0.006409	T	0.42494	0.1205	N	0.20986	0.625	0.29239	N	0.87277	B;B;B	0.18013	0.025;0.025;0.005	B;B;B	0.18561	0.022;0.013;0.006	T	0.17440	-1.0369	10	0.41790	T	0.15	-14.4328	1.0101	0.01495	0.2167:0.1763:0.426:0.181	.	65;65;65	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	L	65	ENSP00000370826:F65L;ENSP00000326765:F65L	ENSP00000326765:F65L	F	-	3	2	HR	22042434	0.997000	0.39634	1.000000	0.80357	0.890000	0.51754	0.189000	0.17037	0.580000	0.29522	0.561000	0.74099	TTC		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			8	75	1	0	1.12685e-05	0.004482	1.34403e-05	8	75				
PIWIL2	55124	broad.mit.edu	37	8	22210598	22210598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:22210598C>T	ENST00000454009.2	+	21	3039	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PIWIL2_ENST00000356766.6_Nonsense_Mutation_p.Q844*|PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q844*	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	844	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.Q844*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGAGAATTATCAGCCCAAGAT	0.433																																							uc003xbn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2530-2532)CAG>TAG		piwi-like 2							175.0	173.0	174.0					8																	22210598		2203	4300	6503	SO:0001587	stop_gained	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22210598C>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2530C>T	8.37:g.22210598C>T	ENSP00000406956:p.Gln844*					PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q844*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q844*|PIWIL2_uc003xbo.2_5'UTR	p.Q844*	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	21	2678	+			844			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Nonsense_Mutation	SNP	ENST00000454009.2	37	c.2530C>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	40	8.344630	0.98769	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	.	.	.	5.48	5.48	0.80851	.	0.442409	0.25774	N	0.028398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-26.6927	11.7601	0.51898	0.2825:0.7175:0.0:0.0	.	.	.	.	X	844	.	ENSP00000349208:Q844X	Q	+	1	0	PIWIL2	22266543	0.943000	0.32029	0.998000	0.56505	0.998000	0.95712	1.440000	0.35024	2.575000	0.86900	0.555000	0.69702	CAG		0.433	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	231	0	0	0	0.000978	0	11	231				
ADRA1A	148	broad.mit.edu	37	8	26721659	26721659	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:26721659G>T	ENST00000519229.1	-	1	834	c.828C>A	c.(826-828)atC>atA	p.I276I	ADRA1A_ENST00000358857.5_Silent_p.I276I|ADRA1A_ENST00000380582.3_Silent_p.I276I|ADRA1A_ENST00000354550.4_Silent_p.I276I|ADRA1A_ENST00000380573.3_Silent_p.I276I|ADRA1A_ENST00000380586.1_Silent_p.I276I|ADRA1A_ENST00000276393.4_Silent_p.I276I|ADRA1A_ENST00000380581.2_Silent_p.I276I|ADRA1A_ENST00000380587.1_Silent_p.I276I|ADRA1A_ENST00000380572.3_Silent_p.I276I			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	352					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.I276I(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGCCGACCACGATGCCCAGCG	0.572																																							uc003xfh.1		NA																	5	Substitution - coding silent(5)		lung(5)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(826-828)ATC>ATA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						51.0	44.0	46.0					8																	26721659		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721659G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.828C>A	8.37:g.26721659G>T						ADRA1A_uc003xfc.1_Silent_p.I276I|ADRA1A_uc010lul.1_Silent_p.I276I|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.I276I|ADRA1A_uc010lum.1_Silent_p.I276I|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.I276I	p.I276I	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	1264	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	276			Helical; Name=6; (By similarity).		Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.828C>A																																																																																					0.572	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		18	57	1	0	9.95505e-16	0.002299	1.68312e-15	18	57				
KCNU1	157855	broad.mit.edu	37	8	36793116	36793116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:36793116G>T	ENST00000399881.3	+	27	3165	c.3128G>T	c.(3127-3129)tGt>tTt	p.C1043F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1043					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.C1043F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCACTGCTTGTTATAAAAGG	0.413																																							uc010lvw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3127-3129)TGT>TTT		potassium channel, subfamily U, member 1							126.0	120.0	122.0					8																	36793116		1892	4123	6015	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793116G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3128G>T	8.37:g.36793116G>T	ENSP00000382770:p.Cys1043Phe						p.C1043F	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3215	+			1043			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.3128G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	7.980	0.750940	0.15778	.	.	ENSG00000215262	ENST00000399881	T	0.30182	1.54	5.37	-2.62	0.06152	.	.	.	.	.	T	0.19366	0.0465	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30650	-0.9971	9	0.23302	T	0.38	-2.5729	2.2918	0.04140	0.1924:0.1078:0.1547:0.5451	.	1043	A8MYU2	KCNU1_HUMAN	F	1043	ENSP00000382770:C1043F	ENSP00000382770:C1043F	C	+	2	0	KCNU1	36912274	.	.	0.000000	0.03702	0.029000	0.11900	.	.	-0.243000	0.09653	0.655000	0.94253	TGT		0.413	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		15	139	1	0	1.00905e-13	0.008871	1.62372e-13	15	139				
ANK1	286	broad.mit.edu	37	8	41543692	41543692	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:41543692G>T	ENST00000347528.4	-	36	4451	c.4368C>A	c.(4366-4368)atC>atA	p.I1456I	ANK1_ENST00000265709.8_Silent_p.I1497I|ANK1_ENST00000396945.1_Silent_p.I1456I|ANK1_ENST00000379758.2_Silent_p.I1456I|ANK1_ENST00000396942.1_Silent_p.I1456I|ANK1_ENST00000289734.7_Silent_p.I1456I|ANK1_ENST00000352337.4_Silent_p.I1456I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1456	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I1497I(1)|p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCTTCACGGATGACCCAGA	0.527																																							uc003xok.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4366-4368)ATC>ATA		ankyrin 1 isoform 1							156.0	112.0	127.0					8																	41543692		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41543692G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4368C>A	8.37:g.41543692G>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.I772I|ANK1_uc003xoi.2_Silent_p.I1456I|ANK1_uc003xoj.2_Silent_p.I1456I|ANK1_uc003xol.2_Silent_p.I1456I|ANK1_uc003xom.2_Silent_p.I1497I	p.I1456I	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		36	4452	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1456			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4368C>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	4.479	0.088756	0.08583	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.49	2.65	0.31530	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44375	-0.9332	4	.	.	.	.	6.7533	0.23499	0.0705:0.1281:0.6684:0.1329	.	.	.	.	T	778	.	.	P	-	1	0	ANK1	41662849	0.826000	0.29277	0.117000	0.21633	0.490000	0.33462	1.006000	0.29847	0.253000	0.21552	-0.165000	0.13383	CCG		0.527	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		17	125	1	0	7.45023e-12	0.010504	1.13836e-11	17	125				
PLAT	5327	broad.mit.edu	37	8	42038086	42038087	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:42038086_42038087GG>TT	ENST00000220809.4	-	10	1262_1263	c.1006_1007CC>AA	c.(1006-1008)CCc>AAc	p.P336N	PLAT_ENST00000352041.3_Missense_Mutation_p.P290N|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.P247N|PLAT_ENST00000429710.2_Missense_Mutation_p.P210N|PLAT_ENST00000429089.2_Missense_Mutation_p.P336N|PLAT_ENST00000519510.1_Missense_Mutation_p.P273N	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.P336N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CCGCTCTCCGGGCGACCTCCTG	0.619																																							uc003xos.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1006-1008)CCC>AAC		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)																																			SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038086_42038087GG>TT		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1006_1007delinsTT	8.37:g.42038086_42038087delinsTT	ENSP00000220809:p.Pro336Asn					PLAT_uc010lxf.1_Missense_Mutation_p.P253N|PLAT_uc010lxg.1_Missense_Mutation_p.P161N|PLAT_uc003xot.2_Missense_Mutation_p.P290N|PLAT_uc011lcm.1_Missense_Mutation_p.P247N|PLAT_uc011lcn.1_Missense_Mutation_p.P210N	p.P336N	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1215_1216	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	336			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	DNP	ENST00000220809.4	37	c.1006_1007CC>AA	CCDS6126.1																																																																																				0.619	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		15	172	0	0	0	0.004672	0	15	172				
HGSNAT	138050	broad.mit.edu	37	8	43037331	43037331	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:43037331G>T	ENST00000458501.2	+	11	1140	c.1140G>T	c.(1138-1140)ttG>ttT	p.L380F	HGSNAT_ENST00000297798.7_Missense_Mutation_p.L84F|HGSNAT_ENST00000379644.4_Missense_Mutation_p.L352F|HGSNAT_ENST00000521576.1_Missense_Mutation_p.L69F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.L380F(1)|p.L84F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGCAGCGATTGGGAGTGACAT	0.478																																							uc003xpx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1054-1056)TTG>TTT		heparan-alpha-glucosaminide N-acetyltransferase							458.0	458.0	458.0					8																	43037331		2110	4234	6344	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43037331G>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1140G>T	8.37:g.43037331G>T	ENSP00000389524:p.Leu380Phe						p.L352F	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		11	1104	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	380			Helical; (Potential).		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1056G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.495|5.495	0.276289|0.276289	0.10403|0.10403	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000522082;ENST00000521576;ENST00000297798	.|D;D;D;D;D	.|0.92249	.|-3.0;-3.0;-3.0;-2.11;-2.11	5.13|5.13	0.166|0.166	0.14999|0.14999	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.87111|0.87111	0.6096|0.6096	L|L	0.42245|0.42245	1.32|1.32	0.45515|0.45515	D|D	0.998471|0.998471	.|B	.|0.22146	.|0.065	.|B	.|0.34180	.|0.177	T|T	0.75814|0.75814	-0.3185|-0.3185	5|10	.|0.48119	.|T	.|0.1	-15.5646|-15.5646	4.8989|4.8989	0.13764|0.13764	0.3381:0.1453:0.5165:0.0|0.3381:0.1453:0.5165:0.0	.|.	.|380	.|Q68CP4	.|HGNAT_HUMAN	W|F	54|380;352;99;69;84	.|ENSP00000389524:L380F;ENSP00000368965:L352F;ENSP00000430151:L99F;ENSP00000429029:L69F;ENSP00000297798:L84F	.|ENSP00000297798:L84F	G|L	+|+	1|3	0|2	HGSNAT|HGSNAT	43156488|43156488	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.198000|0.198000	0.23893|0.23893	2.040000|2.040000	0.41203|0.41203	-0.185000|-0.185000	0.10550|0.10550	-0.131000|-0.131000	0.14894|0.14894	GGG|TTG		0.478	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		168	497	1	0	8.07318e-74	0.00361	1.613e-73	168	497				
PRKDC	5591	broad.mit.edu	37	8	48711843	48711843	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:48711843C>A	ENST00000314191.2	-	73	10278	c.10222G>T	c.(10222-10224)Gtg>Ttg	p.V3408L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V3408L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3409	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V3409L(1)|p.V3408L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCATCAATCACCCCAGCTGCA	0.547								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10225-10227)GTG>TTG	NHEJ	protein kinase, DNA-activated, catalytic							81.0	84.0	83.0					8																	48711843		2006	4180	6186	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48711843C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10222G>T	8.37:g.48711843C>A	ENSP00000313420:p.Val3408Leu					PRKDC_uc003xqj.2_Missense_Mutation_p.V3409L|PRKDC_uc011ldh.1_Intron	p.V3409L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			73	10282	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3409			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.10225G>T		.	.	.	.	.	.	.	.	.	.	C	12.07	1.826772	0.32329	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70749	-0.51;-0.51	5.8	-9.53	0.00575	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.307360	0.04895	N	0.450291	T	0.46756	0.1409	N	0.12746	0.255	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.35400	-0.9790	10	0.27082	T	0.32	.	10.1382	0.42719	0.0:0.1544:0.3318:0.5138	.	3408;3409	E7EUY0;P78527	.;PRKDC_HUMAN	L	3408	ENSP00000313420:V3408L;ENSP00000345182:V3408L	ENSP00000313420:V3408L	V	-	1	0	PRKDC	48874396	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.659000	0.01975	-2.217000	0.00731	0.655000	0.94253	GTG		0.547	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		13	152	1	0	0.000422831	0.004007	0.000470131	13	152				
PXDNL	137902	broad.mit.edu	37	8	52321213	52321213	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:52321213G>T	ENST00000356297.4	-	17	3071	c.2971C>A	c.(2971-2973)Cac>Aac	p.H991N	PXDNL_ENST00000543296.1_Missense_Mutation_p.H991N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	991					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H190N(1)|p.H991N(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCTCCCAGTGGGGGTTCAGG	0.642																																							uc003xqu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2971-2973)CAC>AAC		peroxidasin homolog-like precursor							22.0	26.0	24.0					8																	52321213		2061	4208	6269	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321213G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2971C>A	8.37:g.52321213G>T	ENSP00000348645:p.His991Asn					PXDNL_uc003xqt.3_RNA	p.H991N	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3072	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	991					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2971C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540338	0.27563	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.73152	-0.72;-0.72	4.47	2.58	0.30949	.	0.110591	0.40222	N	0.001149	T	0.76399	0.3982	M	0.80508	2.5	0.29204	N	0.875009	P	0.46395	0.877	P	0.51016	0.656	T	0.72633	-0.4234	10	0.87932	D	0	.	8.7179	0.34423	0.0:0.1659:0.6625:0.1717	.	991	A1KZ92	PXDNL_HUMAN	N	991	ENSP00000348645:H991N;ENSP00000444865:H991N	ENSP00000348645:H991N	H	-	1	0	PXDNL	52483766	1.000000	0.71417	0.000000	0.03702	0.008000	0.06430	5.350000	0.66016	0.278000	0.22164	0.655000	0.94253	CAC		0.642	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	19	1	0	9.70103e-10	0.008291	1.37746e-09	10	19				
ST18	9705	broad.mit.edu	37	8	53030987	53030987	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:53030987C>T	ENST00000276480.7	-	24	3453	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	924					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E924K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTAATTTCTTCATCACTCTCT	0.313																																							uc003xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2770-2772)GAA>AAA		suppression of tumorigenicity 18							139.0	134.0	136.0					8																	53030987		2202	4297	6499	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030987C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2770G>A	8.37:g.53030987C>T	ENSP00000276480:p.Glu924Lys					ST18_uc011ldq.1_Missense_Mutation_p.E571K|ST18_uc011ldr.1_Missense_Mutation_p.E889K|ST18_uc011lds.1_Missense_Mutation_p.E829K|ST18_uc003xra.2_Missense_Mutation_p.E924K	p.E924K	NM_014682	NP_055497	O60284	ST18_HUMAN			19	2926	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	924			Potential.		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2770G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535102	0.96460	.	.	ENSG00000147488	ENST00000276480	T	0.61510	0.1	5.44	5.44	0.79542	.	0.103160	0.64402	D	0.000004	T	0.70988	0.3287	M	0.61703	1.905	0.80722	D	1	D	0.59767	0.986	P	0.56865	0.808	T	0.74067	-0.3784	10	0.87932	D	0	-22.9246	19.2504	0.93923	0.0:1.0:0.0:0.0	.	924	O60284	ST18_HUMAN	K	924	ENSP00000276480:E924K	ENSP00000276480:E924K	E	-	1	0	ST18	53193540	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.441000	0.80485	2.559000	0.86315	0.591000	0.81541	GAA		0.313	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			10	58	0	0	0	0.008291	0	10	58				
TGS1	96764	broad.mit.edu	37	8	56723472	56723472	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:56723472G>T	ENST00000260129.5	+	11	2653	c.2176G>T	c.(2176-2178)Gcc>Tcc	p.A726S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	726	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.A726S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTAAGATTGCCCTTGCTCG	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)	Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NA																	1	Substitution - Missense(1)	p.A726G(1)	lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2176-2178)GCC>TCC		trimethylguanosine synthase homolog							205.0	208.0	207.0					8																	56723472		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56723472G>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2176G>T	8.37:g.56723472G>T	ENSP00000260129:p.Ala726Ser					TGS1_uc010lyh.2_Intron	p.A726S	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		11	2563	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	726			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2176G>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112275	0.37242	.	.	ENSG00000137574	ENST00000260129	T	0.52983	0.64	5.57	5.57	0.84162	.	0.269103	0.39985	N	0.001217	T	0.30947	0.0781	N	0.21097	0.63	0.33659	D	0.609439	B	0.06786	0.001	B	0.15870	0.014	T	0.36311	-0.9753	10	0.15952	T	0.53	-21.6624	10.1447	0.42755	0.074:0.2074:0.7187:0.0	.	726	Q96RS0	TGS1_HUMAN	S	726	ENSP00000260129:A726S	ENSP00000260129:A726S	A	+	1	0	TGS1	56886026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.549000	0.60726	2.617000	0.88574	0.655000	0.94253	GCC		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		24	270	1	0	7.38237e-10	0.00632	1.05127e-09	24	270				
LYN	4067	broad.mit.edu	37	8	56866543	56866543	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:56866543G>A	ENST00000519728.1	+	8	1086	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	LYN_ENST00000520220.2_Splice_Site_p.G243S	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G264S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AGTCTGGATGGGTAAGTGTGC	0.527																																							uc003xsk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(790-792)GGT>AGT		Yamaguchi sarcoma viral (v-yes-1) oncogene							96.0	94.0	95.0					8																	56866543		2203	4300	6503	SO:0001630	splice_region_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866543G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.790+1G>A	8.37:g.56866543G>A						LYN_uc003xsl.3_Missense_Mutation_p.G243S	p.G264S	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	1072	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	264			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.790G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443808	0.96187	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.86432	-2.12;-2.12	5.08	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047258	0.85682	D	0.000000	D	0.93044	0.7786	M	0.87097	2.86	0.58432	D	0.999999	P;P	0.44090	0.826;0.718	P;P	0.53224	0.721;0.605	D	0.94121	0.7379	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	334;264	Q6NUK7;P07948	.;LYN_HUMAN	S	264;243	ENSP00000428924:G264S;ENSP00000428424:G243S	ENSP00000428924:G264S	G	+	1	0	LYN	57029097	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.874000	0.87199	2.534000	0.85438	0.650000	0.86243	GGT		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	Missense_Mutation	18	142	0	0	0	0.006122	0	18	142				
CYP7A1	1581	broad.mit.edu	37	8	59404216	59404216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:59404216G>T	ENST00000301645.3	-	6	1470	c.1333C>A	c.(1333-1335)Cct>Act	p.P445T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	445					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P445T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATCTTCCAGGACATATTGTA	0.388									Neonatal Giant Cell Hepatitis																														uc003xtm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1333-1335)CCT>ACT		cytochrome P450, family 7, subfamily A,							93.0	102.0	99.0					8																	59404216		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404216G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1333C>A	8.37:g.59404216G>T	ENSP00000301645:p.Pro445Thr						p.P445T	NM_000780	NP_000771	P22680	CP7A1_HUMAN			6	1396	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	445					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1333C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716928	0.89205	.	.	ENSG00000167910	ENST00000301645	T	0.69306	-0.39	5.87	5.87	0.94306	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83999	0.0342	10	0.54805	T	0.06	-19.7053	20.5827	0.99408	0.0:0.0:1.0:0.0	.	445	P22680	CP7A1_HUMAN	T	445	ENSP00000301645:P445T	ENSP00000301645:P445T	P	-	1	0	CYP7A1	59566770	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT		0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		8	65	1	0	4.68919e-08	0.008291	6.21436e-08	8	65				
CYP7B1	9420	broad.mit.edu	37	8	65537045	65537045	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:65537045C>A	ENST00000310193.3	-	2	347	c.174G>T	c.(172-174)gtG>gtT	p.V58V		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	58					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.V58V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGTTCAGGACCACTCCAAGAT	0.383																																							uc003xvj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(172-174)GTG>GTT		cytochrome P450, family 7, subfamily B,							137.0	134.0	135.0					8																	65537045		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65537045C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.174G>T	8.37:g.65537045C>A							p.V58V	NM_004820	NP_004811	O75881	CP7B1_HUMAN			2	378	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	58					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.174G>T	CCDS6180.1																																																																																				0.383	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			23	147	1	0	4.72057e-08	0.003954	6.25174e-08	23	147				
SLCO5A1	81796	broad.mit.edu	37	8	70585465	70585465	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:70585465T>C	ENST00000260126.4	-	10	2892	c.2186A>G	c.(2185-2187)tAc>tGc	p.Y729C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.Y674C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	729						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y729C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTCACGTTGTACTCCCAGCA	0.453																																							uc003xyl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2185-2187)TAC>TGC		solute carrier organic anion transporter family,							164.0	164.0	164.0					8																	70585465		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585465T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2186A>G	8.37:g.70585465T>C	ENSP00000260126:p.Tyr729Cys					SLCO5A1_uc010lzb.2_Missense_Mutation_p.Y674C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.Y729C	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2893	-	Breast(64;0.0654)		729			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2186A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245489	0.80024	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.73152	-0.72;-0.72	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91715	0.5384	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	674;729	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	C	729;674	ENSP00000260126:Y729C;ENSP00000431611:Y674C	ENSP00000260126:Y729C	Y	-	2	0	SLCO5A1	70748019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.925000	0.87563	2.281000	0.76405	0.533000	0.62120	TAC		0.453	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		24	235	0	0	0	0.004656	0	24	235				
EYA1	2138	broad.mit.edu	37	8	72184101	72184101	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:72184101G>T	ENST00000340726.3	-	10	1497	c.858C>A	c.(856-858)ccC>ccA	p.P286P	EYA1_ENST00000388742.4_Silent_p.P286P|EYA1_ENST00000388740.3_Silent_p.P253P|EYA1_ENST00000419131.1_Silent_p.P281P|EYA1_ENST00000388743.2_Silent_p.P285P|EYA1_ENST00000303824.7_Silent_p.P280P|EYA1_ENST00000388741.2_Silent_p.P252P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	286					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.P286P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATCTTTAATGGGTGTTGATG	0.453																																							uc003xys.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(856-858)CCC>CCA		eyes absent 1 isoform b							264.0	249.0	254.0					8																	72184101		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184101G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.858C>A	8.37:g.72184101G>T						EYA1_uc003xyr.3_Silent_p.P281P|EYA1_uc003xyt.3_Silent_p.P253P|EYA1_uc010lzf.2_Silent_p.P213P|EYA1_uc003xyu.2_Silent_p.P286P|EYA1_uc011lfe.1_Silent_p.P280P|EYA1_uc003xyv.2_Silent_p.P164P	p.P286P	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1145	-	Breast(64;0.046)		286					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.858C>A	CCDS34906.1																																																																																				0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		38	309	1	0	1.02687e-29	0.003214	1.96966e-29	38	309				
TRPA1	8989	broad.mit.edu	37	8	72958754	72958754	+	Silent	SNP	G	G	T	rs368191226		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:72958754G>T	ENST00000262209.4	-	17	2262	c.2055C>A	c.(2053-2055)gcC>gcA	p.A685A	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	685					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A685A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTACGTTGAGGGCTGTAAGCG	0.294																																							uc003xza.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2053-2055)GCC>GCA		ankyrin-like protein 1	Menthol(DB00825)						169.0	181.0	177.0					8																	72958754		2203	4299	6502	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72958754G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2055C>A	8.37:g.72958754G>T						uc011lff.1_Intron|uc003xyy.2_Intron	p.A685A	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2230	-			685			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2055C>A	CCDS34908.1																																																																																				0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	74	1	0	2.17888e-05	0.006214	2.56155e-05	10	74				
ZFHX4	79776	broad.mit.edu	37	8	77619978	77619978	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77619978C>G	ENST00000521891.2	+	3	3236	c.2788C>G	c.(2788-2790)Ctc>Gtc	p.L930V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L930V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCGCTCTCTCCCTGAAGA	0.512										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2710-2712)CTC>GTC		zinc finger homeodomain 4							75.0	74.0	74.0					8																	77619978		2200	4298	6498	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77619978C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2788C>G	8.37:g.77619978C>G	ENSP00000430497:p.Leu930Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.L904V|ZFHX4_uc003yau.1_Missense_Mutation_p.L930V|ZFHX4_uc003yaw.1_Missense_Mutation_p.L904V	p.L904V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3097	+			904					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2710C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303545	0.23736	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.28	5.28	0.74379	.	0.000000	0.38959	U	0.001515	T	0.72503	0.3468	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.984	D;D;D;P	0.77557	0.978;0.99;0.99;0.786	T	0.71755	-0.4497	10	0.46703	T	0.11	.	19.1043	0.93287	0.0:1.0:0.0:0.0	.	904;904;930;904	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	930;930;904;904;904	ENSP00000430497:L930V;ENSP00000399605:L904V;ENSP00000050961:L904V;ENSP00000430848:L904V	ENSP00000050961:L904V	L	+	1	0	ZFHX4	77782533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.264000	0.58859	2.761000	0.94854	0.585000	0.79938	CTC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	29	0	0	0	0.000602	0	4	29				
ZFHX4	79776	broad.mit.edu	37	8	77763587	77763587	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77763587C>G	ENST00000521891.2	+	10	4878	c.4430C>G	c.(4429-4431)tCc>tGc	p.S1477C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1451C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1432C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1432C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1477C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTATGTCCCAGGATGAC	0.507										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4294-4296)TCC>TGC		zinc finger homeodomain 4							48.0	44.0	46.0					8																	77763587		2021	4185	6206	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763587C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4430C>G	8.37:g.77763587C>G	ENSP00000430497:p.Ser1477Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1477C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1432C	p.S1432C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4682	+			1432					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4295C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469690	0.12461	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.79;0.76;0.75	4.98	4.11	0.48088	.	0.758269	0.11122	U	0.597372	T	0.27489	0.0675	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.11329	0.003;0.006;0.006	T	0.14062	-1.0486	10	0.51188	T	0.08	.	6.988	0.24739	0.0:0.7024:0.1434:0.1543	.	1432;1432;1477	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	1477;1477;1432;1432;1451	ENSP00000430497:S1477C;ENSP00000399605:S1432C;ENSP00000050961:S1432C;ENSP00000430848:S1451C	ENSP00000050961:S1432C	S	+	2	0	ZFHX4	77926142	1.000000	0.71417	0.983000	0.44433	0.895000	0.52256	2.410000	0.44592	1.329000	0.45376	0.555000	0.69702	TCC		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	35	0	0	0	0.004482	0	5	35				
ZFHX4	79776	broad.mit.edu	37	8	77764096	77764096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77764096C>A	ENST00000521891.2	+	10	5387	c.4939C>A	c.(4939-4941)Cag>Aag	p.Q1647K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1621K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1602K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1602K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1602	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q1647K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCCTGGCCAGGGGATGTT	0.473										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4804-4806)CAG>AAG		zinc finger homeodomain 4							69.0	67.0	68.0					8																	77764096		1923	4133	6056	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764096C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4939C>A	8.37:g.77764096C>A	ENSP00000430497:p.Gln1647Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q1647K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1602K	p.Q1602K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5191	+			1602					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4804C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170239	0.21621	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48836	0.8;0.85;0.82;0.81	4.41	4.41	0.53225	.	0.000000	0.42964	U	0.000625	T	0.42200	0.1192	L	0.50333	1.59	0.43994	D	0.99669	B;B;B	0.27732	0.118;0.187;0.187	B;B;B	0.32762	0.073;0.152;0.152	T	0.33189	-0.9878	10	0.05351	T	0.99	.	17.537	0.87834	0.0:1.0:0.0:0.0	.	1602;1602;1647	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	1647;1647;1602;1602;1621	ENSP00000430497:Q1647K;ENSP00000399605:Q1602K;ENSP00000050961:Q1602K;ENSP00000430848:Q1621K	ENSP00000050961:Q1602K	Q	+	1	0	ZFHX4	77926651	1.000000	0.71417	0.977000	0.42913	0.925000	0.55904	5.764000	0.68826	2.456000	0.83038	0.542000	0.68232	CAG		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	65	1	0	2.17888e-05	0.006214	2.56155e-05	9	65				
PSKH2	85481	broad.mit.edu	37	8	87076623	87076623	+	Silent	SNP	G	G	T	rs139789006	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:87076623G>T	ENST00000276616.2	-	2	497	c.423C>A	c.(421-423)acC>acA	p.T141T	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T141T(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCTCCCCTCCGGTAGCCAGCT	0.522																																							uc011lfy.1		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(421-423)ACC>ACA		protein serine kinase H2							71.0	72.0	72.0					8																	87076623		2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076623G>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.423C>A	8.37:g.87076623G>T							p.T141T	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	423	-			141			Protein kinase.		A0AV22	Silent	SNP	ENST00000276616.2	37	c.423C>A	CCDS6240.1																																																																																				0.522	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		8	77	1	0	5.18039e-06	0.00308	6.26229e-06	8	77				
KIAA1429	25962	broad.mit.edu	37	8	95508630	95508630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:95508630C>A	ENST00000297591.5	-	18	4384	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1437					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E1437*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTTTAACTCTGCAGCATTA	0.383																																							uc003ygo.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4309-4311)GAG>TAG		hypothetical protein LOC25962 isoform 1							142.0	124.0	130.0					8																	95508630		2203	4300	6503	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508630C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4309G>T	8.37:g.95508630C>A	ENSP00000297591:p.Glu1437*					KIAA1429_uc010maz.1_RNA	p.E1437*	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		18	4322	-	Breast(36;3.29e-05)		1437					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.4309G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	45	11.835462	0.99608	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.7718	19.0991	0.93266	0.0:1.0:0.0:0.0	.	.	.	.	X	1437	.	ENSP00000297591:E1437X	E	-	1	0	KIAA1429	95577806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.526000	0.85167	0.650000	0.86243	GAG		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		13	69	1	0	4.36969e-10	0.001855	6.27247e-10	13	69				
MATN2	4147	broad.mit.edu	37	8	99019735	99019735	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:99019735T>A	ENST00000520016.1	+	9	1603	c.1479T>A	c.(1477-1479)caT>caA	p.H493Q	MATN2_ENST00000521689.1_Missense_Mutation_p.H493Q|MATN2_ENST00000254898.5_Missense_Mutation_p.H493Q|MATN2_ENST00000524308.1_Missense_Mutation_p.H452Q|MATN2_ENST00000522025.2_Missense_Mutation_p.H209Q			O00339	MATN2_HUMAN	matrilin 2	493	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H493Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGTGACCATGGTTGTGAAT	0.532																																							uc003yic.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1477-1479)CAT>CAA		matrilin 2 isoform a precursor							139.0	139.0	139.0					8																	99019735		2088	4213	6301	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99019735T>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1479T>A	8.37:g.99019735T>A	ENSP00000430487:p.His493Gln					MATN2_uc010mbh.1_Missense_Mutation_p.H452Q|MATN2_uc003yid.2_Missense_Mutation_p.H493Q|MATN2_uc003yie.1_Missense_Mutation_p.H493Q|MATN2_uc010mbi.1_Missense_Mutation_p.H326Q|MATN2_uc010mbj.1_5'UTR	p.H493Q	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		10	1710	+	Breast(36;1.43e-06)		493			EGF-like 7.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1479T>A	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.97|15.97	2.990443|2.990443	0.54041|0.54041	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154	D;T;D;T;T|.	0.86956|.	-1.75;-0.91;-2.19;1.56;-0.87|.	5.65|5.65	-11.3|-11.3	0.00108|0.00108	Epidermal growth factor-like (1);|.	0.000000|.	0.64402|.	D|.	0.000015|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.67569|0.67569	2.06|2.06	0.36412|0.36412	D|D	0.863817|0.863817	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.91635|.	0.998;0.999;0.997|.	T|T	0.79405|0.79405	-0.1817|-0.1817	10|5	0.51188|.	T|.	0.08|.	-19.2558|-19.2558	19.0374|19.0374	0.92985|0.92985	0.0:0.6591:0.0:0.3409|0.0:0.6591:0.0:0.3409	.|.	493;493;493|.	E9PF03;O00339-2;O00339|.	.;.;MATN2_HUMAN|.	Q|R	493;493;452;452;209;493|276	ENSP00000429977:H493Q;ENSP00000254898:H493Q;ENSP00000430221:H452Q;ENSP00000429010:H209Q;ENSP00000430487:H493Q|.	ENSP00000254898:H493Q|.	H|W	+|+	3|1	2|0	MATN2|MATN2	99088911|99088911	0.984000|0.984000	0.35163|0.35163	0.085000|0.085000	0.20634|0.20634	0.374000|0.374000	0.29953|0.29953	0.007000|0.007000	0.13174|0.13174	-2.713000|-2.713000	0.00392|0.00392	-0.959000|-0.959000	0.02639|0.02639	CAT|TGG		0.532	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			41	75	0	0	0	0.00361	0	41	75				
RGS22	26166	broad.mit.edu	37	8	101075759	101075759	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:101075759T>C	ENST00000360863.6	-	8	1431	c.1237A>G	c.(1237-1239)Aag>Gag	p.K413E	RGS22_ENST00000523287.1_Missense_Mutation_p.K232E|RGS22_ENST00000523437.1_Missense_Mutation_p.K401E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	413					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K413E(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAAACTCCTTTCTATTGCCA	0.383																																							uc003yjb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1237-1239)AAG>GAG		regulator of G-protein signaling 22							145.0	133.0	136.0					8																	101075759		1848	4096	5944	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075759T>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1237A>G	8.37:g.101075759T>C	ENSP00000354109:p.Lys413Glu					RGS22_uc003yja.1_Missense_Mutation_p.K232E|RGS22_uc003yjc.1_Missense_Mutation_p.K401E|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.K413E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1432	-			413					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1237A>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111354	0.56398	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.62639	0.01;0.01;0.01	5.68	5.68	0.88126	Regulator of G protein signalling superfamily (1);	0.271192	0.33092	N	0.005289	T	0.59293	0.2183	M	0.64997	1.995	0.21220	N	0.999755	P;P;P	0.46142	0.799;0.799;0.873	B;B;B	0.39660	0.162;0.162;0.306	T	0.62932	-0.6749	10	0.62326	D	0.03	.	12.7906	0.57530	0.0:0.0:0.2644:0.7356	.	401;413;232	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	E	413;401;232;401	ENSP00000354109:K413E;ENSP00000429382:K232E;ENSP00000428212:K401E	ENSP00000354109:K413E	K	-	1	0	RGS22	101144935	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.021000	0.41020	2.288000	0.76882	0.528000	0.53228	AAG		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		12	192	0	0	0	0.00245	0	12	192				
RGS22	26166	broad.mit.edu	37	8	101083735	101083735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:101083735C>A	ENST00000360863.6	-	6	650	c.456G>T	c.(454-456)tgG>tgT	p.W152C	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.W152C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	152					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.W152C(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGGACTTGCTCCATCTTACTT	0.383																																							uc003yjb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(454-456)TGG>TGT		regulator of G-protein signaling 22							135.0	118.0	123.0					8																	101083735		1841	4102	5943	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101083735C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.456G>T	8.37:g.101083735C>A	ENSP00000354109:p.Trp152Cys					RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.W152C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.W152C	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		6	651	-			152					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.456G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533609	0.64972	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.62105	0.05;0.05	5.06	5.06	0.68205	.	0.236285	0.30584	N	0.009320	T	0.78578	0.4305	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79918	-0.1600	10	0.59425	D	0.04	.	18.7853	0.91952	0.0:1.0:0.0:0.0	.	152;152	A8K944;Q8NE09	.;RGS22_HUMAN	C	152;152;152;71;56;56	ENSP00000354109:W152C;ENSP00000428212:W152C	ENSP00000354109:W152C	W	-	3	0	RGS22	101152911	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.997000	0.63921	2.529000	0.85273	0.484000	0.47621	TGG		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	119	1	0	6.5536e-12	0.00308	1.0037e-11	7	119				
UBR5	51366	broad.mit.edu	37	8	103301722	103301722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103301722C>A	ENST00000520539.1	-	35	5278	c.4672G>T	c.(4672-4674)Gat>Tat	p.D1558Y	UBR5_ENST00000521922.1_Missense_Mutation_p.D1552Y|UBR5_ENST00000220959.4_Missense_Mutation_p.D1558Y|UBR5_ENST00000519528.1_Intron	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1558					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.D1558Y(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTTCTTCATCTCTGCCCCGA	0.428																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4672-4674)GAT>TAT		ubiquitin protein ligase E3 component n-recognin							143.0	135.0	138.0					8																	103301722		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103301722C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4672G>T	8.37:g.103301722C>A	ENSP00000429084:p.Asp1558Tyr					UBR5_uc003yks.1_Missense_Mutation_p.D1558Y	p.D1558Y	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		35	4705	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1558					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4672G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038118	0.93630	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.50548	0.74;0.74;0.74	5.8	5.8	0.92144	.	0.184328	0.43747	D	0.000527	T	0.54775	0.1879	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.56956	-0.7893	10	0.41790	T	0.15	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	1552;1558	E7EMW7;O95071	.;UBR5_HUMAN	Y	1558;1558;1552	ENSP00000429084:D1558Y;ENSP00000220959:D1558Y;ENSP00000427819:D1552Y	ENSP00000220959:D1558Y	D	-	1	0	UBR5	103370898	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.770000	0.85390	2.741000	0.93983	0.650000	0.86243	GAT		0.428	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		150	98	1	0	5.04192e-100	0.00361	1.01044e-99	150	98				
UBR5	51366	broad.mit.edu	37	8	103317410	103317410	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103317410T>C	ENST00000520539.1	-	21	3336	c.2730A>G	c.(2728-2730)acA>acG	p.T910T	UBR5_ENST00000521922.1_Silent_p.T904T|UBR5_ENST00000220959.4_Silent_p.T910T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	910					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T910T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGCTGATGAATGTCTGCAGCA	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(2728-2730)ACA>ACG		ubiquitin protein ligase E3 component n-recognin							169.0	165.0	166.0					8																	103317410		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317410T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2730A>G	8.37:g.103317410T>C						UBR5_uc003yks.1_Silent_p.T910T	p.T910T	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	2763	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		910					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.2730A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	9.038	0.989022	0.18966	.	.	ENSG00000104517	ENST00000520898;ENST00000519365	.	.	.	5.03	-4.84	0.03151	.	.	.	.	.	T	0.45756	0.1358	.	.	.	0.51767	D	0.99993	.	.	.	.	.	.	T	0.40308	-0.9570	4	.	.	.	.	4.5202	0.11956	0.0935:0.442:0.2078:0.2566	.	.	.	.	V	1;26	.	.	I	-	1	0	UBR5	103386586	0.000000	0.05858	0.931000	0.37212	0.914000	0.54420	-3.623000	0.00411	-1.243000	0.02519	-0.756000	0.03474	ATT		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		174	163	0	0	0	0.00361	0	174	163				
UBR5	51366	broad.mit.edu	37	8	103327008	103327008	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103327008C>A	ENST00000520539.1	-	15	2464	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	UBR5_ENST00000521922.1_Missense_Mutation_p.A614S|UBR5_ENST00000220959.4_Missense_Mutation_p.A620S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	620					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.A620S(1)|p.A620T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATTGAGGATGCATCACTACAC	0.418																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	2	Substitution - Missense(2)		lung(1)|kidney(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1858-1860)GCA>TCA		ubiquitin protein ligase E3 component n-recognin							138.0	111.0	120.0					8																	103327008		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103327008C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1858G>T	8.37:g.103327008C>A	ENSP00000429084:p.Ala620Ser					UBR5_uc003yks.1_Missense_Mutation_p.A620S	p.A620S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		15	1891	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		620					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1858G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279293	0.59758	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	.	0.056644	0.64402	D	0.000001	T	0.34542	0.0901	N	0.22421	0.69	0.53005	D	0.999966	B;B	0.20261	0.043;0.043	B;B	0.17098	0.017;0.017	T	0.13229	-1.0517	10	0.62326	D	0.03	.	18.883	0.92364	0.0:1.0:0.0:0.0	.	614;620	E7EMW7;O95071	.;UBR5_HUMAN	S	620;620;614	ENSP00000429084:A620S;ENSP00000220959:A620S;ENSP00000427819:A614S	ENSP00000220959:A620S	A	-	1	0	UBR5	103396184	1.000000	0.71417	0.552000	0.28243	0.856000	0.48823	5.556000	0.67307	2.482000	0.83794	0.585000	0.79938	GCA		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		43	24	1	0	2.47907e-22	0.00361	4.55112e-22	43	24				
CTHRC1	115908	broad.mit.edu	37	8	104390389	104390389	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104390389T>A	ENST00000330295.5	+	3	649	c.507T>A	c.(505-507)ccT>ccA	p.P169P	CTHRC1_ENST00000520880.1_Silent_p.P39P|CTHRC1_ENST00000520337.1_Silent_p.P155P	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	169					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.P169P(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GTTCAGGACCTCTTCCCATTG	0.388																																							uc003ylk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(505-507)CCT>CCA		collagen triple helix repeat containing 1							139.0	137.0	138.0					8																	104390389		2203	4300	6503	SO:0001819	synonymous_variant	115908					collagen		g.chr8:104390389T>A	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.507T>A	8.37:g.104390389T>A							p.P169P	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		3	606	+			169					G3V141|Q6UW91|Q8IX63	Silent	SNP	ENST00000330295.5	37	c.507T>A	CCDS6299.1																																																																																				0.388	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		20	252	0	0	0	0.008871	0	20	252				
RIMS2	9699	broad.mit.edu	37	8	104513164	104513165	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104513164_104513165CC>AA	ENST00000406091.3	+	1	50_51	c.50_51CC>AA	c.(49-51)gCC>gAA	p.A17E	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	17					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.A17E(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCCCGGCGGCCTCTCAGCCGC	0.653										HNSCC(12;0.0054)																													uc003ylp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(49-51)GCC>GAA		regulating synaptic membrane exocytosis 2																																				SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104513164_104513165CC>AA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		Exception_encountered	8.37:g.104513164_104513165delinsAA	ENSP00000384892:p.Ala17Glu	HNSCC(12;0.0054)					p.A17E	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	189_190	+			17					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	DNP	ENST00000406091.3	37	c.50_51CC>AA	CCDS55269.1																																																																																				0.653	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		4	44	0	0	0	0.004672	0	4	44				
DPYS	1807	broad.mit.edu	37	8	105441800	105441800	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:105441800G>T	ENST00000351513.2	-	5	1055	c.923C>A	c.(922-924)cCc>cAc	p.P308H		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	308					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.P308H(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)			GAGGAAGTCGGGTGTTGAGGG	0.507																																							uc003yly.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(922-924)CCC>CAC		dihydropyrimidinase							163.0	133.0	143.0					8																	105441800		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.chr8:105441800G>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.923C>A	8.37:g.105441800G>T	ENSP00000276651:p.Pro308His						p.P308H	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1052	-			308						Missense_Mutation	SNP	ENST00000351513.2	37	c.923C>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742034	0.89573	.	.	ENSG00000147647	ENST00000351513	D	0.90732	-2.72	5.79	5.79	0.91817	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95419	0.8505	10	0.72032	D	0.01	-14.5127	20.0435	0.97601	0.0:0.0:1.0:0.0	.	308	Q14117	DPYS_HUMAN	H	308	ENSP00000276651:P308H	ENSP00000276651:P308H	P	-	2	0	DPYS	105510976	1.000000	0.71417	0.440000	0.26846	0.846000	0.48090	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	CCC		0.507	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		12	98	1	0	1.5739e-10	0.004007	2.31324e-10	12	98				
LRP12	29967	broad.mit.edu	37	8	105510277	105510277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:105510277C>A	ENST00000276654.5	-	5	611	c.503G>T	c.(502-504)tGt>tTt	p.C168F	LRP12_ENST00000424843.2_Missense_Mutation_p.C149F|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	168	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.C168F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTGATCACAAGCACAATT	0.373																																							uc003yma.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(502-504)TGT>TTT		low density lipoprotein-related protein 12							87.0	84.0	85.0					8																	105510277		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510277C>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.503G>T	8.37:g.105510277C>A	ENSP00000276654:p.Cys168Phe					LRP12_uc003ymb.2_Missense_Mutation_p.C149F|LRP12_uc003ylz.2_5'Flank	p.C168F	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	598	-			168			Extracellular (Potential).|LDL-receptor class A 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.503G>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326255	0.41197	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.95307	-3.67;-3.67	5.5	5.5	0.81552	.	0.261404	0.45867	D	0.000334	D	0.90007	0.6880	N	0.12182	0.205	0.80722	D	1	P;P	0.37176	0.531;0.586	B;B	0.38378	0.135;0.272	D	0.90705	0.4623	10	0.62326	D	0.03	-20.1969	19.425	0.94737	0.0:1.0:0.0:0.0	.	149;168	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	F	149;168	ENSP00000399148:C149F;ENSP00000276654:C168F	ENSP00000276654:C168F	C	-	2	0	LRP12	105579453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.756000	0.62205	2.584000	0.87258	0.563000	0.77884	TGT		0.373	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		8	97	1	0	0.00621372	0.006214	0.00654636	8	97				
PKHD1L1	93035	broad.mit.edu	37	8	110394763	110394763	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:110394763G>A	ENST00000378402.5	+	4	484	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	127	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C127Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAACACCTGCAAAGGTCAC	0.408										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(379-381)TGC>TAC		fibrocystin L precursor							126.0	124.0	125.0					8																	110394763		1948	4157	6105	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110394763G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.380G>A	8.37:g.110394763G>A	ENSP00000367655:p.Cys127Tyr	HNSCC(38;0.096)					p.C127Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		4	484	+			127			Extracellular (Potential).|IPT/TIG 1.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.380G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456292	0.84317	.	.	ENSG00000205038	ENST00000378402	D	0.88818	-2.43	5.94	5.94	0.96194	Cell surface receptor IPT/TIG (1);	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.78637	2.42	0.47737	D	0.999506	D	0.76494	0.999	D	0.78314	0.991	D	0.94108	0.7368	10	0.56958	D	0.05	.	17.8674	0.88799	0.0:0.0:1.0:0.0	.	127	Q86WI1	PKHL1_HUMAN	Y	127	ENSP00000367655:C127Y	ENSP00000367655:C127Y	C	+	2	0	PKHD1L1	110463939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.334000	0.72944	2.820000	0.97059	0.650000	0.86243	TGC		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	108	0	0	0	0.004482	0	7	108				
CSMD3	114788	broad.mit.edu	37	8	113317037	113317037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113317037G>T	ENST00000297405.5	-	52	8423	c.8179C>A	c.(8179-8181)Cct>Act	p.P2727T	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2657T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2687T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2727	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2727S(1)|p.P2687T(1)|p.P2727T(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						TGATAACCAGGGTCACAGCTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	3	Substitution - Missense(3)		lung(3)	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.(8179-8181)CCT>ACT		CUB and Sushi multiple domains 3 isoform 1							130.0	112.0	118.0					8																	113317037		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317037G>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.8179C>A	8.37:g.113317037G>T	ENSP00000297405:p.Pro2727Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1929T|CSMD3_uc003ynt.2_Missense_Mutation_p.P2687T|CSMD3_uc011lhx.1_Intron	p.P2727T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8338	-			2727			Extracellular (Potential).|Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8179C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621164	0.87460	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000003	T	0.72228	0.3434	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.80764	0.936;0.994	T	0.72740	-0.4202	10	0.46703	T	0.11	.	18.7481	0.91802	0.0:0.0:1.0:0.0	.	2727;2687	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	T	2687;2727;1997;2657	ENSP00000345799:P2687T;ENSP00000297405:P2727T;ENSP00000341558:P1997T;ENSP00000343124:P2657T	ENSP00000297405:P2727T	P	-	1	0	CSMD3	113386213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.793000	0.85851	2.455000	0.83008	0.655000	0.94253	CCT		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	57	1	0	0.00198382	0.001984	0.00212876	7	57				
CSMD3	114788	broad.mit.edu	37	8	113326690	113326690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113326690T>C	ENST00000297405.5	-	48	7761	c.7517A>G	c.(7516-7518)gAa>gGa	p.E2506G	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2402G|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2436G|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2466G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2506	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2466G(1)|p.E2506G(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						AAATTCCTTTTCTGTCTGGAA	0.333										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.(7516-7518)GAA>GGA		CUB and Sushi multiple domains 3 isoform 1							107.0	103.0	105.0					8																	113326690		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326690T>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.7517A>G	8.37:g.113326690T>C	ENSP00000297405:p.Glu2506Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E1708G|CSMD3_uc003ynt.2_Missense_Mutation_p.E2466G|CSMD3_uc011lhx.1_Missense_Mutation_p.E2402G|CSMD3_uc003ynw.1_Missense_Mutation_p.E217G	p.E2506G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7676	-			2506			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7517A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616934	0.87359	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	T	0.71846	0.3388	M	0.93016	3.37	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79308	-0.1857	10	0.59425	D	0.04	.	14.8078	0.69971	0.0:0.0:0.0:1.0	.	2402;2506;2466	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	2466;2506;1776;2402;2436	ENSP00000345799:E2466G;ENSP00000297405:E2506G;ENSP00000341558:E1776G;ENSP00000412263:E2402G;ENSP00000343124:E2436G	ENSP00000297405:E2506G	E	-	2	0	CSMD3	113395866	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.864000	0.87037	2.081000	0.62600	0.472000	0.43445	GAA		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	64	0	0	0	0.000978	0	10	64				
CSMD3	114788	broad.mit.edu	37	8	113933969	113933969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113933969G>T	ENST00000297405.5	-	10	1764	c.1520C>A	c.(1519-1521)aCt>aAt	p.T507N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T403N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T507N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T467N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	507	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T467N(1)|p.T507N(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						GAACTGCACAGTTGATCCAAG	0.398										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.(1519-1521)ACT>AAT		CUB and Sushi multiple domains 3 isoform 1							93.0	89.0	90.0					8																	113933969		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113933969G>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.1520C>A	8.37:g.113933969G>T	ENSP00000297405:p.Thr507Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.T467N|CSMD3_uc011lhx.1_Missense_Mutation_p.T403N	p.T507N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			10	1679	-			507			Extracellular (Potential).|Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1520C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067364	0.36470	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.48	5.48	0.80851	Complement control module (2);Sushi/SCR/CCP (3);	0.226336	0.34435	N	0.003964	T	0.74168	0.3681	M	0.62088	1.915	0.26584	N	0.973317	B;B;B	0.27166	0.043;0.17;0.001	B;B;B	0.42593	0.054;0.392;0.01	T	0.65635	-0.6120	10	0.32370	T	0.25	.	19.3415	0.94344	0.0:0.0:1.0:0.0	.	403;507;467	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	467;507;403;507	ENSP00000345799:T467N;ENSP00000297405:T507N;ENSP00000412263:T403N;ENSP00000343124:T507N	ENSP00000297405:T507N	T	-	2	0	CSMD3	114003145	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	3.251000	0.51453	2.576000	0.86940	0.655000	0.94253	ACT		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	105	1	0	3.86212e-05	0.008291	4.46834e-05	9	105				
COL14A1	7373	broad.mit.edu	37	8	121262964	121262964	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:121262964C>G	ENST00000297848.3	+	22	2981	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.A809G|COL14A1_ENST00000309791.4_Missense_Mutation_p.A904G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A904G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCTCCCAGGCCTCAGGCTTC	0.473																																							uc003yox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2710-2712)GCC>GGC		collagen, type XIV, alpha 1 precursor							87.0	77.0	81.0					8																	121262964		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121262964C>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2711C>G	8.37:g.121262964C>G	ENSP00000297848:p.Ala904Gly					COL14A1_uc003yoy.2_Missense_Mutation_p.A582G	p.A904G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		22	2976	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		904			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2711C>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496321	0.44352	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.365958	0.31450	N	0.007629	T	0.30823	0.0777	N	0.05351	-0.065	0.80722	D	1	B;P	0.34462	0.005;0.454	B;B	0.34931	0.006;0.192	T	0.11743	-1.0575	10	0.11182	T	0.66	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	904;904	Q05707-2;Q05707	.;COEA1_HUMAN	G	904;904;809;717	ENSP00000311809:A904G;ENSP00000297848:A904G;ENSP00000247781:A809G;ENSP00000409461:A717G	ENSP00000247781:A809G	A	+	2	0	COL14A1	121332145	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	4.348000	0.59379	2.882000	0.98803	0.655000	0.94253	GCC		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	78	0	0	0	0.00308	0	7	78				
FER1L6	654463	broad.mit.edu	37	8	125113558	125113558	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:125113558C>A	ENST00000522917.1	+	38	5310	c.5104C>A	c.(5104-5106)Ctg>Atg	p.L1702M	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L1702M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1702	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.L1702M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTGAAAGGCTGTCCTCAGA	0.443																																							uc003yqw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(5104-5106)CTG>ATG		fer-1-like 6							103.0	97.0	99.0					8																	125113558		1973	4191	6164	SO:0001583	missense	654463					integral to membrane		g.chr8:125113558C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5104C>A	8.37:g.125113558C>A	ENSP00000428280:p.Leu1702Met					uc003yqy.1_Intron	p.L1702M	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		38	5310	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1702			C2 6.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.5104C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272920	0.59649	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.95980	-3.87;-3.87	5.71	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.96716	0.8928	L	0.54323	1.7	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.96652	0.9482	10	0.51188	T	0.08	-14.7483	14.6102	0.68510	0.0:0.93:0.0:0.07	.	1702	Q2WGJ9	FR1L6_HUMAN	M	1702	ENSP00000428280:L1702M;ENSP00000381982:L1702M	ENSP00000381982:L1702M	L	+	1	2	FER1L6	125182739	0.617000	0.27043	0.992000	0.48379	0.991000	0.79684	1.254000	0.32897	1.410000	0.46936	0.563000	0.77884	CTG		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		9	61	1	0	2.17888e-05	0.006214	2.56155e-05	9	61				
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:125555397G>A	ENST00000276689.3	+	2	255	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000522532.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I|NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGGATATGGCGAAGGCCA	0.463																																							uc003yrg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)ATG>ATA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						97.0	89.0	91.0					8																	125555397		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555397G>A	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.171G>A	8.37:g.125555397G>A	ENSP00000276689:p.Met57Ile					NDUFB9_uc011lim.1_Missense_Mutation_p.M57I	p.M57I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	256	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		57					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.171G>A	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252830	0.59212	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;T;T;T	0.72167	-0.18;-0.18;-0.18;-0.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	L	0.56769	1.78	0.80722	D	1	B;B	0.29766	0.256;0.168	B;B	0.41374	0.355;0.143	T	0.68232	-0.5463	10	0.18710	T	0.47	-27.4329	19.3193	0.94231	0.0:0.0:1.0:0.0	.	57;57	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	I	57;57;57;46	ENSP00000276689:M57I;ENSP00000428282:M57I;ENSP00000431115:M57I;ENSP00000430322:M46I	ENSP00000276689:M57I	M	+	3	0	NDUFB9	125624578	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	7.515000	0.81761	2.559000	0.86315	0.655000	0.94253	ATG		0.463	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		6	82	0	0	0	0.001168	0	6	82				
ADCY8	114	broad.mit.edu	37	8	131949374	131949374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:131949374G>T	ENST00000286355.5	-	5	3518	c.1426C>A	c.(1426-1428)Cag>Aag	p.Q476K	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q476K|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	476					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.Q476K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCATGGTCCTGGCGGGGCTCA	0.507										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1426-1428)CAG>AAG		adenylate cyclase 8							116.0	106.0	109.0					8																	131949374		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131949374G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1426C>A	8.37:g.131949374G>T	ENSP00000286355:p.Gln476Lys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.Q476K	p.Q476K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		5	1682	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		476			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1426C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166196	0.57476	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84146	-1.81;-1.81;-1.81	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.341241	0.31673	N	0.007251	T	0.71771	0.3379	N	0.02357	-0.585	0.28568	N	0.910777	B;B	0.33413	0.033;0.411	B;B	0.35899	0.028;0.213	T	0.68938	-0.5277	10	0.42905	T	0.14	.	18.6261	0.91340	0.0:0.0:1.0:0.0	.	476;476	E7EVL1;P40145	.;ADCY8_HUMAN	K	476;476;91	ENSP00000286355:Q476K;ENSP00000367161:Q476K;ENSP00000428010:Q91K	ENSP00000286355:Q476K	Q	-	1	0	ADCY8	132018556	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.873000	0.56093	2.657000	0.90304	0.655000	0.94253	CAG		0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			6	80	1	0	5.18039e-06	0.00308	6.26229e-06	6	80				
LRRC6	23639	broad.mit.edu	37	8	133644985	133644985	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:133644985C>A	ENST00000519595.1	-	5	752		c.e5+1		LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site			Q86X45	TILB_HUMAN	leucine rich repeat containing 6						cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATTTACATACAGAGTAGCAT	0.353																																							uc003ytk.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|kidney(1)	2						c.e5+1		leucine rich repeat containing 6							220.0	203.0	209.0					8																	133644985		2203	4300	6503	SO:0001630	splice_region_variant	23639					cytoplasm		g.chr8:133644985C>A	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.653+1G>T	8.37:g.133644985C>A						LRRC6_uc003ytl.2_Splice_Site	p.L218_splice	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	727	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)							Q13648|Q4G183	Splice_Site	SNP	ENST00000519595.1	37	c.653_splice		.	.	.	.	.	.	.	.	.	.	C	17.61	3.431503	0.62844	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	5.02	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6638	0.51363	0.0:0.9134:0.0:0.0866	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC6	133714167	0.008000	0.16893	0.041000	0.18516	0.613000	0.37349	0.292000	0.19011	1.482000	0.48325	0.650000	0.86243	.		0.353	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	Intron	19	192	1	0	7.21436e-19	0.008871	1.28255e-18	19	192				
FAM135B	51059	broad.mit.edu	37	8	139163907	139163907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:139163907C>A	ENST00000395297.1	-	13	2981	c.2811G>T	c.(2809-2811)ttG>ttT	p.L937F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	937								p.L937F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGTACAGCTCAATTCAGGCA	0.488										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2809-2811)TTG>TTT		hypothetical protein LOC51059							138.0	119.0	125.0					8																	139163907		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163907C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2811G>T	8.37:g.139163907C>A	ENSP00000378710:p.Leu937Phe	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L838F|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L499F|FAM135B_uc003yvb.2_Missense_Mutation_p.L499F	p.L937F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2982	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		937					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2811G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	7.422	0.636885	0.14386	.	.	ENSG00000147724	ENST00000395297	T	0.14640	2.49	5.24	-0.624	0.11552	.	2.258800	0.01303	N	0.010379	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.17440	-1.0369	10	0.06365	T	0.9	2.8368	0.7652	0.01014	0.1987:0.2799:0.3009:0.2205	.	937;937;937	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	937	ENSP00000378710:L937F	ENSP00000276737:L937F	L	-	3	2	FAM135B	139233089	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.778000	0.26732	-0.038000	0.13624	-0.140000	0.14226	TTG		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		21	135	1	0	3.8784e-16	0.001882	6.57991e-16	21	135				
COL22A1	169044	broad.mit.edu	37	8	139768047	139768047	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:139768047G>A	ENST00000303045.6	-	19	2374	c.1928C>T	c.(1927-1929)cCt>cTt	p.P643L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P643L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	643	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P643L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTACACCAGGTGGCCCCGC	0.542										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1927-1929)CCT>CTT		collagen, type XXII, alpha 1							166.0	124.0	138.0					8																	139768047		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139768047G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1928C>T	8.37:g.139768047G>A	ENSP00000303153:p.Pro643Leu	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_5'UTR	p.P643L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		19	2375	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		643			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1928C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307891	0.40895	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97731	-4.09;-4.51	4.83	4.83	0.62350	.	0.000000	0.45867	U	0.000338	D	0.97732	0.9256	M	0.79926	2.475	0.54753	D	0.999983	D	0.54207	0.965	P	0.51016	0.656	D	0.97746	1.0211	10	0.59425	D	0.04	.	13.2905	0.60269	0.0:0.0:1.0:0.0	.	643	Q8NFW1	COMA1_HUMAN	L	643;643;356	ENSP00000303153:P643L;ENSP00000387655:P643L	ENSP00000303153:P643L	P	-	2	0	COL22A1	139837229	1.000000	0.71417	0.985000	0.45067	0.006000	0.05464	4.145000	0.58065	2.503000	0.84419	0.491000	0.48974	CCT		0.542	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		10	116	0	0	0	0.008291	0	10	116				
PLEC	5339	broad.mit.edu	37	8	145003952	145003952	+	Silent	SNP	G	G	A	rs369676162		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145003952G>A	ENST00000322810.4	-	23	3365	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	PLEC_ENST00000398774.2_Silent_p.L897L|PLEC_ENST00000357649.2_Silent_p.L933L|PLEC_ENST00000527096.1_Silent_p.L952L|PLEC_ENST00000345136.3_Silent_p.L929L|PLEC_ENST00000356346.3_Silent_p.L915L|PLEC_ENST00000354958.2_Silent_p.L907L|PLEC_ENST00000436759.2_Silent_p.L956L|PLEC_ENST00000354589.3_Silent_p.L929L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1066	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L929L(1)|p.L956L(1)|p.L1066L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCAGCTCCAGGCTGTGCAGG	0.706																																							uc003zaf.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3196-3198)CTG>TTG		plectin isoform 1		G	,,,,,,,	0,4114		0,0,2057	10.0	13.0	12.0		2866,2743,2719,3196,2689,2785,2797,2785	3.0	1.0	8		12	2,8268		0,2,4133	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,2,6190	AA,AG,GG		0.0242,0.0,0.0161	,,,,,,,	956/4575,915/4534,907/4526,1066/4685,897/4516,929/4548,933/4552,929/4548	145003952	2,12382	2057	4135	6192	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145003952G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3196C>T	8.37:g.145003952G>A						PLEC_uc003zab.1_Silent_p.L929L|PLEC_uc003zac.1_Silent_p.L933L|PLEC_uc003zad.2_Silent_p.L929L|PLEC_uc003zae.1_Silent_p.L897L|PLEC_uc003zag.1_Silent_p.L907L|PLEC_uc003zah.2_Silent_p.L915L|PLEC_uc003zaj.2_Silent_p.L956L	p.L1066L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			23	3366	-			1066			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.3196C>T	CCDS43772.1																																																																																				0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	21	0	0	0	0.000602	0	3	21				
PLEC	5339	broad.mit.edu	37	8	145012823	145012823	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145012823C>A	ENST00000322810.4	-	2	730	c.561G>T	c.(559-561)aaG>aaT	p.K187N	PLEC_ENST00000398774.2_Missense_Mutation_p.K18N|PLEC_ENST00000357649.2_Missense_Mutation_p.K54N|PLEC_ENST00000527096.1_Missense_Mutation_p.K77N|PLEC_ENST00000345136.3_Missense_Mutation_p.K50N|PLEC_ENST00000356346.3_Missense_Mutation_p.K36N|PLEC_ENST00000354958.2_Missense_Mutation_p.K28N|PLEC_ENST00000436759.2_Missense_Mutation_p.K77N|PLEC_ENST00000354589.3_Missense_Mutation_p.K50N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	187	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.K77N(1)|p.K50N(1)|p.K187N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTTGACCCACTTGGTGAAGG	0.647																																							uc003zaf.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(559-561)AAG>AAT		plectin isoform 1							107.0	109.0	108.0					8																	145012823		2202	4298	6500	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145012823C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.561G>T	8.37:g.145012823C>A	ENSP00000323856:p.Lys187Asn					PLEC_uc003zab.1_Missense_Mutation_p.K50N|PLEC_uc003zac.1_Missense_Mutation_p.K54N|PLEC_uc003zad.2_Missense_Mutation_p.K50N|PLEC_uc003zae.1_Missense_Mutation_p.K18N|PLEC_uc003zag.1_Missense_Mutation_p.K28N|PLEC_uc003zah.2_Missense_Mutation_p.K36N|PLEC_uc003zaj.2_Missense_Mutation_p.K77N	p.K187N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			2	731	-			187			CH 1.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.561G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353085	0.61293	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.92	4.04	0.47022	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.64402	U	0.000010	D	0.94876	0.8344	L	0.41961	1.31	0.47441	D	0.999429	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.996;0.998;0.996;0.996;0.996;0.996	D	0.94196	0.7445	10	0.87932	D	0	.	8.2159	0.31511	0.0:0.8923:0.0:0.1077	.	77;36;28;187;18;50;54;50	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	50;54;50;18;187;28;36;77;77;77;27;67	ENSP00000344848:K50N;ENSP00000350277:K54N;ENSP00000346602:K50N;ENSP00000381756:K18N;ENSP00000323856:K187N;ENSP00000347044:K28N;ENSP00000348702:K36N;ENSP00000388180:K77N;ENSP00000434583:K77N;ENSP00000437303:K77N;ENSP00000433557:K27N;ENSP00000436702:K67N	ENSP00000323856:K187N	K	-	3	2	PLEC	145084811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.544000	0.23253	2.297000	0.77311	0.655000	0.94253	AAG		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	96	1	0	1.33834e-09	0.007413	1.87596e-09	15	96				
SPATC1	375686	broad.mit.edu	37	8	145095278	145095278	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145095278C>A	ENST00000377470.3	+	2	782	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	SPATC1_ENST00000447830.2_Missense_Mutation_p.P227Q	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	227						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P227Q(1)|p.P136Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGGCCCCAAGGCTGCGG	0.667																																							uc011lkw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(679-681)CCA>CAA		spermatogenesis and centriole associated 1							20.0	25.0	23.0					8																	145095278		2192	4269	6461	SO:0001583	missense	375686							g.chr8:145095278C>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.680C>A	8.37:g.145095278C>A	ENSP00000366690:p.Pro227Gln					SPATC1_uc011lkx.1_Missense_Mutation_p.P227Q	p.P227Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	782	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		227					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.680C>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921910	0.33908	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.78003	-1.14;-1.14	4.37	3.48	0.39840	.	0.244323	0.29342	N	0.012423	D	0.84547	0.5496	M	0.69823	2.125	0.30421	N	0.778066	D;P	0.76494	0.999;0.728	D;B	0.76071	0.987;0.381	T	0.80405	-0.1396	10	0.33141	T	0.24	-9.8349	10.258	0.43410	0.1986:0.8014:0.0:0.0	.	227;227	B4DWW9;Q76KD6	.;SPERI_HUMAN	Q	227	ENSP00000366690:P227Q;ENSP00000387613:P227Q	ENSP00000366690:P227Q	P	+	2	0	SPATC1	145167266	0.006000	0.16342	0.332000	0.25469	0.021000	0.10359	2.283000	0.43470	1.128000	0.42052	0.655000	0.94253	CCA		0.667	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		10	49	1	0	4.3838e-07	0.001855	5.56242e-07	10	49				
VPS28	51160	broad.mit.edu	37	8	145649195	145649195	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145649195T>A	ENST00000526054.1	-	9	696	c.659A>T	c.(658-660)cAt>cTt	p.H220L	VPS28_ENST00000377348.2_3'UTR|VPS28_ENST00000292510.4_Missense_Mutation_p.H220L|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_3'UTR			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	220	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.H220L(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCAGGCATGCAGGAAGCG	0.622																																							uc003zcr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CAT>CTT		vacuolar protein sorting 28 isoform 1							37.0	37.0	37.0					8																	145649195		2203	4300	6503	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649195T>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.659A>T	8.37:g.145649195T>A	ENSP00000434064:p.His220Leu					VPS28_uc003zcs.1_Missense_Mutation_p.H220L|VPS28_uc003zct.1_3'UTR	p.H220L	NM_016208	NP_057292	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	712	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		220			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.659A>T	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	t	18.81	3.703933	0.68501	.	.	ENSG00000160948	ENST00000526054;ENST00000292510	.	.	.	4.96	4.96	0.65561	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	.	.	.	.	T	0.68063	0.2960	M	0.84585	2.705	0.80722	D	1	P	0.38395	0.629	B	0.40982	0.345	T	0.72168	-0.4372	8	0.46703	T	0.11	.	12.633	0.56667	0.0:0.0:0.0:1.0	.	220	Q9UK41	VPS28_HUMAN	L	220	.	ENSP00000292510:H220L	H	-	2	0	VPS28	145620003	1.000000	0.71417	0.990000	0.47175	0.833000	0.47200	5.359000	0.66074	2.081000	0.62600	0.523000	0.50628	CAT		0.622	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			8	47	0	0	0	0.006214	0	8	47				
DMRT1	1761	broad.mit.edu	37	9	847035	847035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:847035G>T	ENST00000382276.3	+	2	579	c.430G>T	c.(430-432)Gag>Tag	p.E144*	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	144					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E144*(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CAGTGCGGCCGAGCTGCTTGT	0.607																																							uc003zgv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(430-432)GAG>TAG		doublesex and mab-3 related transcription factor							87.0	76.0	80.0					9																	847035		2203	4300	6503	SO:0001587	stop_gained	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:847035G>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.430G>T	9.37:g.847035G>T	ENSP00000371711:p.Glu144*					DMRT1_uc003zgu.1_Nonsense_Mutation_p.E144*	p.E144*	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	2	579	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	144					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Nonsense_Mutation	SNP	ENST00000382276.3	37	c.430G>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152730	0.78001	.	.	ENSG00000137090	ENST00000382276	.	.	.	4.65	4.65	0.58169	.	0.336653	0.29572	N	0.011774	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.1447	0.86763	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000371711:E144X	E	+	1	0	DMRT1	837035	1.000000	0.71417	0.082000	0.20525	0.006000	0.05464	8.498000	0.90492	2.151000	0.67156	0.655000	0.94253	GAG		0.607	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		13	95	1	0	3.27435e-08	0.00245	4.3599e-08	13	95				
PTPRD	5789	broad.mit.edu	37	9	8376609	8376609	+	Nonsense_Mutation	SNP	T	T	A	rs144200611		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8376609T>A	ENST00000381196.4	-	35	5047	c.4504A>T	c.(4504-4506)Aag>Tag	p.K1502*	PTPRD_ENST00000540109.1_Nonsense_Mutation_p.K1502*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.K1092*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.K1489*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.K1096*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.K1480*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.K1092*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.K1502*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1502	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K1502*(2)|p.K973*(1)|p.K1096*(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGCAAACCTTGTAAAGTGCA	0.403										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Nonsense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4504-4506)AAG>TAG		protein tyrosine phosphatase, receptor type, D							182.0	145.0	158.0					9																	8376609		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8376609T>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4504A>T	9.37:g.8376609T>A	ENSP00000370593:p.Lys1502*	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Nonsense_Mutation_p.K1096*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.K1095*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.K1086*|PTPRD_uc003zks.2_Nonsense_Mutation_p.K1095*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.K1493*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.K1489*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.K1091*|PTPRD_uc003zko.2_Nonsense_Mutation_p.K1092*	p.K1502*	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5215	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1502			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.4504A>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	43	9.937128	0.99299	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7133	0.77649	0.0:0.0:0.0:1.0	.	.	.	.	X	1502;1502;1489;1480;1096;1095;1092;1092;973;1502;1095;1095	.	.	K	-	1	0	PTPRD	8366609	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.914000	0.69964	2.126000	0.65437	0.482000	0.46254	AAG		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			27	38	0	0	0	0.003271	0	27	38				
PTPRD	5789	broad.mit.edu	37	9	8460523	8460523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8460523G>T	ENST00000381196.4	-	30	4306	c.3763C>A	c.(3763-3765)Ctg>Atg	p.L1255M	PTPRD_ENST00000540109.1_Missense_Mutation_p.L1255M|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1242M|PTPRD_ENST00000397606.3_Missense_Mutation_p.L834M|PTPRD_ENST00000397617.3_Missense_Mutation_p.L834M|PTPRD_ENST00000537002.1_Missense_Mutation_p.L841M|PTPRD_ENST00000355233.5_Missense_Mutation_p.L844M|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1233M|PTPRD_ENST00000397611.3_Missense_Mutation_p.L841M|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1255M|PTPRD_ENST00000486161.1_Missense_Mutation_p.L844M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1255					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1255M(2)|p.L726M(1)|p.L844M(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCGGATCCAGATCCATTGAC	0.438										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3763-3765)CTG>ATG		protein tyrosine phosphatase, receptor type, D							145.0	129.0	134.0					9																	8460523		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460523G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3763C>A	9.37:g.8460523G>T	ENSP00000370593:p.Leu1255Met	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.L844M|PTPRD_uc003zkq.2_Missense_Mutation_p.L844M|PTPRD_uc003zkr.2_Missense_Mutation_p.L839M|PTPRD_uc003zks.2_Missense_Mutation_p.L834M|PTPRD_uc003zkl.2_Missense_Mutation_p.L1246M|PTPRD_uc003zkm.2_Missense_Mutation_p.L1242M|PTPRD_uc003zkn.2_Missense_Mutation_p.L844M|PTPRD_uc003zko.2_Missense_Mutation_p.L841M	p.L1255M	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	32	4474	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1255			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3763C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334683	0.41297	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.62;0.62;0.66;0.71;0.77;0.92;0.65;0.54;0.62;0.77;0.92	5.89	2.9	0.33743	.	0.117966	0.56097	D	0.000034	T	0.42017	0.1184	N	0.24115	0.695	0.32802	D	0.500306	B;B;B;B;P;B;P;P;B	0.43885	0.399;0.077;0.077;0.077;0.82;0.126;0.697;0.549;0.156	B;B;B;B;P;B;B;B;B	0.49085	0.101;0.048;0.048;0.048;0.6;0.103;0.332;0.284;0.243	T	0.49409	-0.8943	9	.	.	.	.	6.2397	0.20783	0.2161:0.0:0.6568:0.127	.	834;839;844;844;841;841;1242;1255;1255	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	1255;1255;1242;1233;844;834;841;841;726;1255;844;834	ENSP00000370593:L1255M;ENSP00000348812:L1255M;ENSP00000353187:L1242M;ENSP00000351293:L1233M;ENSP00000347373:L844M;ENSP00000380741:L834M;ENSP00000380735:L841M;ENSP00000440515:L841M;ENSP00000438164:L1255M;ENSP00000417093:L844M;ENSP00000380731:L834M	.	L	-	1	2	PTPRD	8450523	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.677000	0.46892	0.321000	0.23259	0.557000	0.71058	CTG		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			26	73	1	0	4.22769e-11	0.00632	6.30789e-11	26	73				
PTPRD	5789	broad.mit.edu	37	9	8524977	8524977	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8524977G>T	ENST00000381196.4	-	15	1170	c.627C>A	c.(625-627)gcC>gcA	p.A209A	PTPRD_ENST00000540109.1_Silent_p.A209A|PTPRD_ENST00000360074.4_Silent_p.A200A|PTPRD_ENST00000397606.3_Silent_p.A203A|PTPRD_ENST00000397617.3_Silent_p.A203A|PTPRD_ENST00000537002.1_Silent_p.A206A|PTPRD_ENST00000355233.5_Silent_p.A209A|PTPRD_ENST00000358503.5_Silent_p.A200A|PTPRD_ENST00000397611.3_Silent_p.A206A|PTPRD_ENST00000356435.5_Silent_p.A209A|PTPRD_ENST00000486161.1_Silent_p.A209A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	209	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A209A(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCTGTTGGTGGCAACACACT	0.468										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(625-627)GCC>GCA		protein tyrosine phosphatase, receptor type, D							154.0	155.0	155.0					9																	8524977		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8524977G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.627C>A	9.37:g.8524977G>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.A209A|PTPRD_uc003zkq.2_Silent_p.A209A|PTPRD_uc003zkr.2_Silent_p.A203A|PTPRD_uc003zks.2_Silent_p.A203A|PTPRD_uc003zkl.2_Silent_p.A209A|PTPRD_uc003zkm.2_Silent_p.A200A|PTPRD_uc003zkn.2_Silent_p.A209A|PTPRD_uc003zko.2_Silent_p.A206A	p.A209A	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1338	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	209			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.627C>A	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			23	250	1	0	1.64293e-13	0.00333	2.62869e-13	23	250				
FREM1	158326	broad.mit.edu	37	9	14851592	14851592	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:14851592C>A	ENST00000380880.3	-	6	1625	c.842G>T	c.(841-843)tGg>tTg	p.W281L	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.W281L|FREM1_ENST00000380881.4_Missense_Mutation_p.W282L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	281					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.W282L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACAGGCAGCCACGCACTCTC	0.403																																							uc003zlm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(841-843)TGG>TTG		FRAS1 related extracellular matrix 1 precursor							95.0	94.0	94.0					9																	14851592		1909	4138	6047	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14851592C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.842G>T	9.37:g.14851592C>A	ENSP00000370262:p.Trp281Leu					FREM1_uc010mic.2_RNA	p.W281L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	6	1432	-			281			CSPG 1.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.842G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382771	0.95967	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10763	2.84;2.84;2.84	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.05007	-1.0912	10	0.13108	T	0.6	-8.4228	20.7342	0.99715	0.0:1.0:0.0:0.0	.	281	Q5H8C1	FREM1_HUMAN	L	282;281;281	ENSP00000370263:W282L;ENSP00000412940:W281L;ENSP00000370262:W281L	ENSP00000370257:W284L	W	-	2	0	FREM1	14841592	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.487000	0.81328	2.906000	0.99361	0.655000	0.94253	TGG		0.403	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		55	106	1	0	3.21867e-24	0.00361	5.96455e-24	55	106				
FREM1	158326	broad.mit.edu	37	9	14868959	14868959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:14868959C>T	ENST00000380880.3	-	2	800	c.17G>A	c.(16-18)tGg>tAg	p.W6*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.W6*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.W6*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	6					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.W6*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGCAGCCCCCCAACTCAGAGA	0.607																																							uc003zlm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(16-18)TGG>TAG		FRAS1 related extracellular matrix 1 precursor							23.0	28.0	26.0					9																	14868959		2051	4187	6238	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14868959C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.17G>A	9.37:g.14868959C>T	ENSP00000370262:p.Trp6*					FREM1_uc010mic.2_RNA	p.W6*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	2	607	-			6					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.17G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	39	7.376678	0.98245	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	.	.	.	5.75	1.47	0.22746	.	1.606560	0.02570	N	0.097737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	3.0648	6.844	0.23979	0.0:0.4938:0.2383:0.2679	.	.	.	.	X	6	.	ENSP00000370257:W6X	W	-	2	0	FREM1	14858959	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.046000	0.11983	0.343000	0.23821	0.563000	0.77884	TGG		0.607	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		4	11	0	0	0	0.001984	0	4	11				
HAUS6	54801	broad.mit.edu	37	9	19058167	19058167	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:19058167C>G	ENST00000380502.3	-	16	3065	c.2598G>C	c.(2596-2598)ttG>ttC	p.L866F	HAUS6_ENST00000380496.1_Missense_Mutation_p.L730F	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	866					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L866F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTAGGGCTCAATTCTGGTT	0.423																																							uc003znk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2596-2598)TTG>TTC		HAUS augmin-like complex, subunit 6							197.0	192.0	194.0					9																	19058167		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058167C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2598G>C	9.37:g.19058167C>G	ENSP00000369871:p.Leu866Phe					HAUS6_uc011lmz.1_Missense_Mutation_p.L586F|HAUS6_uc003znl.1_Missense_Mutation_p.L730F	p.L866F	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			16	2851	-			866					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.2598G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088349	0.36855	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.40756	1.08;1.02	5.8	4.91	0.64330	.	0.371554	0.25154	N	0.032736	T	0.54046	0.1834	M	0.72894	2.215	0.31913	N	0.614396	D;D;P	0.63046	0.992;0.983;0.956	P;P;P	0.57502	0.822;0.822;0.742	T	0.65500	-0.6153	10	0.59425	D	0.04	-0.7822	7.5666	0.27883	0.0:0.7503:0.0:0.2497	.	831;730;866	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	F	866;730	ENSP00000369871:L866F;ENSP00000369865:L730F	ENSP00000369865:L730F	L	-	3	2	HAUS6	19048167	0.960000	0.32886	0.894000	0.35097	0.256000	0.26092	1.302000	0.33459	1.470000	0.48102	0.467000	0.42956	TTG		0.423	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		75	177	0	0	0	0.00361	0	75	177				
SLC24A2	25769	broad.mit.edu	37	9	19516285	19516285	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:19516285T>A	ENST00000341998.2	-	10	1913	c.1852A>T	c.(1852-1854)Atc>Ttc	p.I618F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I601F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	618					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.I618F(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATAGAGAGGATGACGAAGAGC	0.512																																							uc003zoa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1852-1854)ATC>TTC		solute carrier family 24							116.0	105.0	109.0					9																	19516285		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19516285T>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1852A>T	9.37:g.19516285T>A	ENSP00000344801:p.Ile618Phe					SLC24A2_uc003zob.1_Missense_Mutation_p.I601F	p.I618F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	10	1914	-			618			Helical; (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1852A>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822226	0.90873	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	D;D	0.82893	-1.66;-1.66	5.21	5.21	0.72293	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87394	0.6166	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.994;0.996	D	0.86602	0.1867	9	.	.	.	.	15.1006	0.72273	0.0:0.0:0.0:1.0	.	601;618	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	F	618;601	ENSP00000344801:I618F;ENSP00000286344:I601F	.	I	-	1	0	SLC24A2	19506285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.992000	0.88273	1.975000	0.57531	0.533000	0.62120	ATC		0.512	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		31	129	0	0	0	0.002836	0	31	129				
TEK	7010	broad.mit.edu	37	9	27185502	27185502	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:27185502C>A	ENST00000380036.4	+	9	1644	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	TEK_ENST00000519097.1_Missense_Mutation_p.T254K|TEK_ENST00000406359.4_Missense_Mutation_p.T358K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	401	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T401K(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTTAACCATACGGATCATTTC	0.448																																							uc003zqi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(1201-1203)ACG>AAG		TEK tyrosine kinase, endothelial precursor							129.0	124.0	126.0					9																	27185502		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27185502C>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1202C>A	9.37:g.27185502C>A	ENSP00000369375:p.Thr401Lys					TEK_uc011lno.1_Missense_Mutation_p.T358K|TEK_uc011lnp.1_Missense_Mutation_p.T254K|TEK_uc003zqj.1_Missense_Mutation_p.T335K	p.T401K	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	9	1644	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	401			Extracellular (Potential).|Ig-like C2-type 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1202C>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769237	0.15983	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000333	T	0.29093	0.0723	N	0.08118	0	0.33564	D	0.597744	B;B;D;B	0.56746	0.001;0.025;0.977;0.254	B;B;P;B	0.59703	0.001;0.004;0.862;0.066	T	0.07986	-1.0744	10	0.07813	T	0.8	.	17.1482	0.86771	0.0:1.0:0.0:0.0	.	254;434;358;401	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	254;401;358;358;211	ENSP00000430686:T254K;ENSP00000369375:T401K;ENSP00000383977:T358K;ENSP00000428337:T211K	ENSP00000343716:T358K	T	+	2	0	TEK	27175502	0.960000	0.32886	0.718000	0.30602	0.992000	0.81027	2.797000	0.47877	2.789000	0.95967	0.591000	0.81541	ACG		0.448	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			54	101	1	0	4.25531e-23	0.00361	7.85596e-23	54	101				
PIGO	84720	broad.mit.edu	37	9	35092199	35092199	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:35092199G>C	ENST00000378617.3	-	7	2079	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.S562C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	562					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|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)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.S562C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAAACTATCAGAGAAGAACAC	0.597																																							uc003zwd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1684-1686)TCT>TGT		phosphatidylinositol glycan anchor biosynthesis,							54.0	56.0	55.0					9																	35092199		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092199G>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1685C>G	9.37:g.35092199G>C	ENSP00000367880:p.Ser562Cys					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.S125C	p.S562C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2081	-			562					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1685C>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444261	0.63067	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.70749	-0.51;-0.51	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85389	0.1124	10	0.87932	D	0	-19.8617	19.6982	0.96039	0.0:0.0:1.0:0.0	.	562	Q8TEQ8	PIGO_HUMAN	C	562	ENSP00000367880:S562C;ENSP00000339382:S562C	ENSP00000339382:S562C	S	-	2	0	PIGO	35082199	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.434000	0.90294	2.894000	0.99253	0.655000	0.94253	TCT		0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		8	108	0	0	0	0.004482	0	8	108				
GBA2	57704	broad.mit.edu	37	9	35738836	35738836	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:35738836C>T	ENST00000378103.3	-	12	2383	c.1860G>A	c.(1858-1860)ctG>ctA	p.L620L	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Silent_p.L620L|GBA2_ENST00000545786.1_Silent_p.L626L|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	620					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.L620L(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTTCAGGTTCAGGTCCTTCC	0.488																																							uc003zxw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1858-1860)CTG>CTA		bile acid beta-glucosidase							117.0	106.0	110.0					9																	35738836		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738836C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1860G>A	9.37:g.35738836C>T						GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Silent_p.L620L|GBA2_uc011lpc.1_Silent_p.L620L|GBA2_uc011lpd.1_Silent_p.L626L|GBA2_uc003zxy.1_Silent_p.L333L	p.L620L	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	2384	-	all_epithelial(49;0.167)		620			Extracellular (Potential).		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.1860G>A	CCDS6589.1																																																																																				0.488	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		7	91	0	0	0	0.00308	0	7	91				
SPATA31A6	389730	broad.mit.edu	37	9	43627457	43627457	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:43627457C>A	ENST00000332857.6	-	4	1258	c.1230G>T	c.(1228-1230)aaG>aaT	p.K410N	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	410					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.K410N(1)									GGCTATAATTCTTCCAAAAAC	0.517																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)AAG>AAT		hypothetical protein LOC389730							3.0	3.0	3.0					9																	43627457		532	1434	1966	SO:0001583	missense	389730					integral to membrane		g.chr9:43627457C>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1230G>T	9.37:g.43627457C>A	ENSP00000329825:p.Lys410Asn						p.K410N	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1259	-			410						Missense_Mutation	SNP	ENST00000332857.6	37	c.1230G>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601936	0.28534	.	.	ENSG00000185775	ENST00000332857	T	0.07444	3.19	2.39	-0.894	0.10563	.	1.624240	0.03401	N	0.203346	T	0.17023	0.0409	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.14783	-1.0460	10	0.66056	D	0.02	-0.0431	1.0452	0.01568	0.2323:0.3906:0.2279:0.1492	.	410	Q5VVP1	F75A6_HUMAN	N	410	ENSP00000329825:K410N	ENSP00000329825:K410N	K	-	3	2	FAM75A6	43567453	0.009000	0.17119	0.002000	0.10522	0.038000	0.13279	-0.176000	0.09811	-0.215000	0.10063	0.449000	0.29647	AAG		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		200	177	1	0	6.62119e-91	0.00361	1.32558e-90	200	177				
GDA	9615	broad.mit.edu	37	9	74764488	74764488	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:74764488C>A	ENST00000358399.3	+	1	106	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	GDA_ENST00000238018.4_Missense_Mutation_p.Q5K|GDA_ENST00000376989.3_5'UTR|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	5					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.Q5K(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)		GTGTGCCGCTCAGATGCCGCC	0.711																																							uc004aiq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(13-15)CAG>AAG		guanine deaminase							25.0	22.0	23.0					9																	74764488		2201	4295	6496	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74764488C>A	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.13C>A	9.37:g.74764488C>A	ENSP00000351170:p.Gln5Lys					GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.Q5K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	p.Q5K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	1	196	+		Myeloproliferative disorder(762;0.0122)	5					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.13C>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799611	0.31869	.	.	ENSG00000119125	ENST00000238018;ENST00000358399	.	.	.	5.13	3.22	0.36961	.	1.290220	0.05075	N	0.482286	T	0.33498	0.0865	N	0.08118	0	0.35778	D	0.821429	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.001	T	0.17715	-1.0360	9	0.06099	T	0.92	4.0E-4	12.851	0.57858	0.0:0.6859:0.3141:0.0	.	5;5	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	K	5	.	ENSP00000238018:Q5K	Q	+	1	0	GDA	73954308	0.038000	0.19896	0.837000	0.33122	0.952000	0.60782	0.742000	0.26216	0.690000	0.31570	0.561000	0.74099	CAG		0.711	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			6	44	1	0	0.000157383	0.00308	0.000177598	6	44				
SPATA31D1	389763	broad.mit.edu	37	9	84609178	84609178	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:84609178C>A	ENST00000344803.2	+	4	3840	c.3793C>A	c.(3793-3795)Cgt>Agt	p.R1265S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1265					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1265S(4)									CAGCGGAATCCGTGTGGCACA	0.532																																							uc004amn.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(3793-3795)CGT>AGT		hypothetical protein LOC389763							111.0	109.0	110.0					9																	84609178		2012	4180	6192	SO:0001583	missense	389763					integral to membrane		g.chr9:84609178C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3793C>A	9.37:g.84609178C>A	ENSP00000341988:p.Arg1265Ser						p.R1265S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3840	+			1265						Missense_Mutation	SNP	ENST00000344803.2	37	c.3793C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672635	0.00758	.	.	ENSG00000214929	ENST00000344803	T	0.04194	3.68	3.26	2.12	0.27331	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.46317	-0.9200	9	0.02654	T	1	0.0316	6.5373	0.22361	0.7291:0.2709:0.0:0.0	.	1265	Q6ZQQ2	F75D1_HUMAN	S	1265	ENSP00000341988:R1265S	ENSP00000341988:R1265S	R	+	1	0	FAM75D1	83798998	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.273000	0.08548	0.642000	0.30620	-0.262000	0.10625	CGT		0.532	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		24	173	1	0	5.35356e-11	0.00278	7.95755e-11	24	173				
RASEF	158158	broad.mit.edu	37	9	85622420	85622420	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:85622420C>A	ENST00000376447.3	-	7	1220	c.960G>T	c.(958-960)agG>agT	p.R320S		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	320					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R320S(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						TTTCCAGATCCCTGTAAAATT	0.403																																							uc004amo.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(958-960)AGG>AGT		RAS and EF-hand domain containing							181.0	166.0	171.0					9																	85622420		2202	4300	6502	SO:0001630	splice_region_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85622420C>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.960-1G>T	9.37:g.85622420C>A							p.R320S	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			7	1221	-			320			Potential.		A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.960G>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404832	0.42613	.	.	ENSG00000165105	ENST00000376447	T	0.65916	-0.18	5.79	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77550	-0.2546	10	0.87932	D	0	.	9.1861	0.37172	0.0:0.7196:0.0:0.2804	.	320	Q8IZ41	RASEF_HUMAN	S	320	ENSP00000365630:R320S	ENSP00000365630:R320S	R	-	3	2	RASEF	84812240	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	0.879000	0.28146	1.460000	0.47911	-0.140000	0.14226	AGG		0.403	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	Missense_Mutation	21	135	1	0	1.9806e-07	0.002299	2.57792e-07	21	135				
SPATA31C2	645961	broad.mit.edu	37	9	90745251	90745251	+	IGR	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:90745251G>A								U6 (132001 upstream) : U3 (243932 downstream)																							AGATGGCCCTGGGGCACTTGA	0.552																																							uc011lti.1		NA																	0					NA						c.(2701-2703)CAG>TAG		SubName: Full=cDNA FLJ59639;							6.0	9.0	8.0					9																	90745251		683	1580	2263	SO:0001628	intergenic_variant	0							g.chr9:90745251G>A																													9.37:g.90745251G>A						uc004apx.1_5'Flank	p.Q901*							4	2730	-									Nonsense_Mutation	SNP		37	c.2701C>T																																																																																				0	0.552									11	110	0	0	0	0.001368	0	11	110				
SECISBP2	79048	broad.mit.edu	37	9	91943595	91943595	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:91943595G>T	ENST00000375807.3	+	5	666	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D131Y|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D126Y|SECISBP2_ENST00000470305.1_3'UTR	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	199					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.D199Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TAAGCGAACAGACAGGAAATC	0.353																																							uc004aqj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(595-597)GAC>TAC		SECIS binding protein 2							66.0	61.0	62.0					9																	91943595		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91943595G>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.595G>T	9.37:g.91943595G>T	ENSP00000364965:p.Asp199Tyr					SECISBP2_uc010mqn.1_Missense_Mutation_p.D199Y|SECISBP2_uc004aqi.1_Missense_Mutation_p.D126Y|SECISBP2_uc011ltk.1_Missense_Mutation_p.D198Y|SECISBP2_uc004aqk.1_Missense_Mutation_p.D126Y|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.D131Y	p.D199Y	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			5	675	+			199					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.595G>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471409	0.43942	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.75704	-0.95;-0.96;-0.96;0.59	5.13	5.13	0.70059	.	0.141128	0.48286	D	0.000193	T	0.78515	0.4295	L	0.29908	0.895	0.42024	D	0.990993	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	P;D;D;P;D	0.74348	0.87;0.945;0.983;0.879;0.975	T	0.79600	-0.1736	10	0.59425	D	0.04	-16.556	14.2653	0.66113	0.0:0.0:1.0:0.0	.	219;198;126;199;131	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	Y	199;219;126;131;34	ENSP00000364965:D199Y;ENSP00000364959:D126Y;ENSP00000436650:D131Y;ENSP00000414288:D34Y	ENSP00000364959:D126Y	D	+	1	0	SECISBP2	91133415	0.994000	0.37717	0.998000	0.56505	0.148000	0.21650	2.428000	0.44749	2.830000	0.97506	0.585000	0.79938	GAC		0.353	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		6	67	1	0	8.12818e-05	0.001984	9.2732e-05	6	67				
SEMA4D	10507	broad.mit.edu	37	9	92006263	92006264	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:92006263_92006264CC>AA	ENST00000450295.1	-	9	1465_1466	c.689_690GG>TT	c.(688-690)aGG>aTT	p.R230I	SEMA4D_ENST00000455551.2_Missense_Mutation_p.R230I|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R230I|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R230I|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R230I|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R230I|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R230I|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R230I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.R230I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AGAAGTAGACCCTGTCATCCTC	0.535																																							uc004aqo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(688-690)AGG>ATT		semaphorin 4D isoform 1																																				SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92006263_92006264CC>AA	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.689_690delinsAA	9.37:g.92006263_92006264delinsAA	ENSP00000416523:p.Arg230Ile					SEMA4D_uc011ltm.1_Missense_Mutation_p.R230I|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R228I	p.R230I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			11	1261_1262	-			230			Sema.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	DNP	ENST00000450295.1	37	c.689_690GG>TT	CCDS6685.1																																																																																				0.535	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		20	112	0	0	0	0.004672	0	20	112				
IARS	3376	broad.mit.edu	37	9	95004448	95004448	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:95004448T>A	ENST00000375643.3	-	29	3431	c.3165A>T	c.(3163-3165)caA>caT	p.Q1055H	IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.Q945H|IARS_ENST00000375627.1_Missense_Mutation_p.Q108H|IARS_ENST00000375629.3_Missense_Mutation_p.Q108H|IARS_ENST00000443024.2_Missense_Mutation_p.Q1055H	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1055					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.Q1055H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTGTTTTTTCTTGAATAAGGA	0.393																																							uc004art.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3163-3165)CAA>CAT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						134.0	131.0	132.0					9																	95004448		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95004448T>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3165A>T	9.37:g.95004448T>A	ENSP00000364794:p.Gln1055His					IARS_uc004ars.1_Missense_Mutation_p.Q900H|IARS_uc004aru.3_Missense_Mutation_p.Q1055H|IARS_uc010mqr.2_Missense_Mutation_p.Q945H|IARS_uc010mqt.2_Missense_Mutation_p.Q278H	p.Q1055H	NM_013417	NP_038203	P41252	SYIC_HUMAN			29	3422	-			1055					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.3165A>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419740	0.42918	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	6.05	0.269	0.15631	.	0.538444	0.22031	N	0.065581	T	0.30634	0.0771	L	0.40543	1.245	0.48185	D	0.999602	B;B;B	0.31383	0.321;0.001;0.001	B;B;B	0.28139	0.086;0.009;0.006	T	0.12708	-1.0537	10	0.56958	D	0.05	-10.2866	10.7129	0.45995	0.0:0.4348:0.0:0.5652	.	565;1055;900	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	H	1055;108;1055;945;1055;108	ENSP00000364794:Q1055H;ENSP00000364780:Q108H;ENSP00000406448:Q1055H;ENSP00000415020:Q945H;ENSP00000364778:Q108H	ENSP00000364778:Q108H	Q	-	3	2	IARS	94044269	0.991000	0.36638	1.000000	0.80357	0.843000	0.47879	0.223000	0.17719	0.123000	0.18342	0.528000	0.53228	CAA		0.393	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		17	137	0	0	0	0.006122	0	17	137				
PTCH1	5727	broad.mit.edu	37	9	98220410	98220410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:98220410C>A	ENST00000331920.6	-	18	3352	c.3053G>T	c.(3052-3054)tGg>tTg	p.W1018L	PTCH1_ENST00000429896.2_Missense_Mutation_p.W867L|PTCH1_ENST00000375274.2_Missense_Mutation_p.W1017L|PTCH1_ENST00000437951.1_Missense_Mutation_p.W952L|PTCH1_ENST00000418258.1_Missense_Mutation_p.W867L|PTCH1_ENST00000421141.1_Missense_Mutation_p.W867L|PTCH1_ENST00000430669.2_Missense_Mutation_p.W952L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1018					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.W1018L(2)|p.W1017L(2)|p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTACTGCTCCCAGAAGAGGAA	0.562																																							uc004avk.3		NA																	5	Substitution - Missense(4)|Deletion - Frameshift(1)	p.W1018*(3)|p.I963fs*2(1)|p.W1018_E1019>*K(1)	lung(4)|central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	GRCh37	CM064178	PTCH1	M		c.(3052-3054)TGG>TTG		patched isoform L							76.0	69.0	71.0					9																	98220410		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98220410C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3053G>T	9.37:g.98220410C>A	ENSP00000332353:p.Trp1018Leu					PTCH1_uc010mro.2_Missense_Mutation_p.W867L|PTCH1_uc010mrp.2_Missense_Mutation_p.W867L|PTCH1_uc010mrq.2_Missense_Mutation_p.W867L|PTCH1_uc004avl.3_Missense_Mutation_p.W867L|PTCH1_uc010mrr.2_Missense_Mutation_p.W952L|PTCH1_uc004avm.3_Missense_Mutation_p.W1017L	p.W1018L	NM_000264	NP_000255	Q13635	PTC1_HUMAN			18	3241	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1018			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3053G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113972	0.94339	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.96893	0.9654	10	0.59425	D	0.04	-15.4464	20.3473	0.98799	0.0:1.0:0.0:0.0	.	952;1017;1018	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	L	1018;952;867;867;454;952;867;1017	ENSP00000332353:W1018L;ENSP00000389744:W952L;ENSP00000399981:W867L;ENSP00000396135:W867L;ENSP00000410287:W952L;ENSP00000414823:W867L;ENSP00000364423:W1017L	ENSP00000332353:W1018L	W	-	2	0	PTCH1	97260231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.374000	0.79633	2.884000	0.98904	0.655000	0.94253	TGG		0.562	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		5	49	1	0	1.04858e-14	0.006214	1.73121e-14	5	49				
CCDC180	100499483	broad.mit.edu	37	9	100090327	100090327	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:100090327A>G	ENST00000357054.1	+	30	3171	c.2236A>G	c.(2236-2238)Aca>Gca	p.T746A	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.T607A|CCDC180_ENST00000529487.1_Missense_Mutation_p.T607A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.T604A|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	746						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T746A(1)|p.T607A(1)									CACCCTCCTGACAAAGGAAGT	0.502																																							uc011lut.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(2236-2238)ACA>GCA		hypothetical protein LOC57653							198.0	184.0	189.0					9																	100090327		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100090327A>G	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.2236A>G	9.37:g.100090327A>G	ENSP00000349562:p.Thr746Ala					KIAA1529_uc004axe.1_Missense_Mutation_p.T746A|KIAA1529_uc004axg.1_Missense_Mutation_p.T607A|KIAA1529_uc004axh.1_5'Flank|KIAA1529_uc011luw.1_5'Flank|KIAA1529_uc011lus.1_Missense_Mutation_p.T564A|KIAA1529_uc010msm.1_Intron|KIAA1529_uc004axf.2_Missense_Mutation_p.T607A|KIAA1529_uc011luv.1_Missense_Mutation_p.T604A	p.T746A	NM_020893	NP_065944					28	3009	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2236A>G		.	.	.	.	.	.	.	.	.	.	A	13.06	2.125547	0.37533	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.18	1.61	0.23674	.	0.747950	0.12541	N	0.459880	T	0.18551	0.0445	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.16396	0.017;0.017;0.017;0.017	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.36016	-0.9765	10	0.09590	T	0.72	0.0243	2.9584	0.05884	0.6278:0.0:0.1906:0.1815	.	604;746;607;746	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	A	746;607;604;630;607	ENSP00000349562:T746A;ENSP00000364348:T607A;ENSP00000414000:T604A;ENSP00000434727:T607A	ENSP00000349562:T746A	T	+	1	0	C9orf174	99130148	0.741000	0.28217	0.112000	0.21494	0.283000	0.27025	2.150000	0.42254	0.485000	0.27652	-0.336000	0.08194	ACA		0.502	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		34	232	0	0	0	0.003755	0	34	232				
ANKS6	203286	broad.mit.edu	37	9	101552507	101552507	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:101552507C>T	ENST00000353234.4	-	2	788	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.K52K|ANKS6_ENST00000375018.1_Silent_p.K247K|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	247						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.K247K(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTTGGCGCCCTTCTCCACCA	0.672																																							uc004ayu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(739-741)AAG>AAA		ankyrin repeat and sterile alpha motif domain							57.0	62.0	60.0					9																	101552507		2106	4231	6337	SO:0001819	synonymous_variant	203286							g.chr9:101552507C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.741G>A	9.37:g.101552507C>T						ANKS6_uc004ayy.1_RNA	p.K247K	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			2	762	-		Acute lymphoblastic leukemia(62;0.0527)	247			ANK 6.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.741G>A	CCDS43856.1																																																																																				0.672	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		19	63	0	0	0	0.007413	0	19	63				
ALG2	85365	broad.mit.edu	37	9	101980872	101980872	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:101980872G>A	ENST00000476832.1	-	2	656	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	ALG2_ENST00000319033.6_Missense_Mutation_p.L106F	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.L199F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GATGGATAGAGGACATCAGGG	0.468																																							uc004azf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(595-597)CTC>TTC		alpha-1,3-mannosyltransferase ALG2							118.0	118.0	118.0					9																	101980872		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980872G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.595C>T	9.37:g.101980872G>A	ENSP00000417764:p.Leu199Phe					ALG2_uc004azg.2_Missense_Mutation_p.L106F	p.L199F	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	665	-		Acute lymphoblastic leukemia(62;0.0559)	199					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.595C>T	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180603	0.78677	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.80566	-1.39;-1.39	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.89148	0.3521	10	0.44086	T	0.13	-12.8028	13.7783	0.63069	0.0738:0.0:0.9262:0.0	.	106;199	Q9H553-2;Q9H553	.;ALG2_HUMAN	F	199;106	ENSP00000417764:L199F;ENSP00000326609:L106F	ENSP00000432675:L106F	L	-	1	0	ALG2	101020693	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.605000	0.82844	2.683000	0.91414	0.650000	0.86243	CTC		0.468	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		8	85	0	0	0	0.00308	0	8	85				
TEX10	54881	broad.mit.edu	37	9	103092305	103092305	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:103092305T>A	ENST00000374902.4	-	6	1573	c.1397A>T	c.(1396-1398)gAg>gTg	p.E466V	TEX10_ENST00000537512.1_Missense_Mutation_p.E401V|TEX10_ENST00000535814.1_Missense_Mutation_p.E469V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	466						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.E466V(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCAAGGGTCTCTGTTACAAA	0.418																																							uc004bas.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1396-1398)GAG>GTG		testis expressed 10 isoform 1							160.0	152.0	154.0					9																	103092305		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092305T>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1397A>T	9.37:g.103092305T>A	ENSP00000364037:p.Glu466Val					TEX10_uc011lvf.1_Missense_Mutation_p.E305V|TEX10_uc011lvg.1_Missense_Mutation_p.E469V|TEX10_uc011lvh.1_Missense_Mutation_p.E401V	p.E466V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1612	-		Acute lymphoblastic leukemia(62;0.0527)	466					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1397A>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974601	0.74360	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.68181	-0.31;-0.31;-0.31	5.45	5.45	0.79879	Armadillo-type fold (1);	0.317782	0.38217	N	0.001775	T	0.72518	0.3470	L	0.29908	0.895	0.45567	D	0.998518	P;D;D;P	0.89917	0.93;0.981;1.0;0.93	P;P;D;P	0.68039	0.462;0.69;0.955;0.462	T	0.75825	-0.3181	10	0.66056	D	0.02	-1.5321	15.8205	0.78638	0.0:0.0:0.0:1.0	.	401;469;334;466	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	V	469;466;334;111;401	ENSP00000444555:E469V;ENSP00000364037:E466V;ENSP00000438120:E401V	ENSP00000364037:E466V	E	-	2	0	TEX10	102132126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.864000	0.62990	2.201000	0.70794	0.533000	0.62120	GAG		0.418	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		15	132	0	0	0	0.003163	0	15	132				
TMEM246	84302	broad.mit.edu	37	9	104238432	104238432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:104238432C>A	ENST00000374851.1	-	4	2090	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Nonsense_Mutation_p.E315*|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Nonsense_Mutation_p.E315*			Q9BRR3	TM246_HUMAN	transmembrane protein 246	315						integral component of membrane (GO:0016021)		p.E315*(1)									CGCCGCAGTTCCAGGAAATAG	0.617																																							uc004bbm.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(943-945)GAA>TAA		hypothetical protein LOC84302							98.0	101.0	100.0					9																	104238432		2203	4300	6503	SO:0001587	stop_gained	84302					integral to membrane		g.chr9:104238432C>A	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.943G>T	9.37:g.104238432C>A	ENSP00000363984:p.Glu315*					uc004bbl.1_5'Flank	p.E315*	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	1265	-		Acute lymphoblastic leukemia(62;0.0527)	315					Q49AQ4	Nonsense_Mutation	SNP	ENST00000374851.1	37	c.943G>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	47	13.823760	0.99765	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.8353	18.822	0.92100	0.0:1.0:0.0:0.0	.	.	.	.	X	315	.	ENSP00000363980:E315X	E	-	1	0	C9orf125	103278253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.700000	0.92200	0.563000	0.77884	GAA		0.617	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		12	136	1	0	4.36969e-10	0.001855	6.27247e-10	12	136				
GRIN3A	116443	broad.mit.edu	37	9	104357038	104357038	+	Intron	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:104357038G>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.R59R	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						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.R59R(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)	ATCACTCGCCGCACCAACGGG	0.582																																							uc004bbr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(175-177)CGG>AGG		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						70.0	68.0	68.0					9																	104357038		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357038G>T		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.2767-15396C>A	9.37:g.104357038G>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.R59R	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	246	-		Acute lymphoblastic leukemia(62;0.0527)	56			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.175C>A	CCDS6758.1																																																																																				0.582	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			19	108	1	0	1.96292e-10	0.010504	2.86363e-10	19	108				
SMC2	10592	broad.mit.edu	37	9	106889740	106889740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:106889740G>T	ENST00000286398.7	+	20	3057	c.2769G>T	c.(2767-2769)gaG>gaT	p.E923D	SMC2_ENST00000374793.3_Missense_Mutation_p.E923D|SMC2_ENST00000374787.3_Missense_Mutation_p.E923D|SMC2_ENST00000303219.8_Missense_Mutation_p.E923D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	923					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E923D(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATAAACGGGAGGCTGAAGATG	0.343																																							uc004bbv.2		NA																	2	Substitution - Missense(2)	p.E923K(1)	lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2767-2769)GAG>GAT		structural maintenance of chromosomes 2							132.0	123.0	126.0					9																	106889740		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889740G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2769G>T	9.37:g.106889740G>T	ENSP00000286398:p.Glu923Asp					SMC2_uc004bbw.2_Missense_Mutation_p.E923D|SMC2_uc011lvl.1_Missense_Mutation_p.E923D|SMC2_uc004bbx.2_Missense_Mutation_p.E923D|SMC2_uc004bby.2_RNA	p.E923D	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			20	3057	+			923			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2769G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286006	0.23478	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.84	1.89	0.25635	RecF/RecN/SMC (1);	0.094159	0.64402	D	0.000001	T	0.56587	0.1995	N	0.17631	0.505	0.33824	D	0.629364	B	0.12013	0.005	B	0.20577	0.03	T	0.49072	-0.8977	10	0.16896	T	0.51	-9.511	4.9076	0.13806	0.5157:0.1586:0.3256:0.0	.	923	O95347	SMC2_HUMAN	D	923	ENSP00000286398:E923D;ENSP00000363925:E923D;ENSP00000306152:E923D;ENSP00000363919:E923D	ENSP00000286398:E923D	E	+	3	2	SMC2	105929561	0.789000	0.28775	1.000000	0.80357	0.984000	0.73092	-0.028000	0.12350	0.490000	0.27771	-0.312000	0.09012	GAG		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			13	89	1	0	6.81908e-15	0.00245	1.12773e-14	13	89				
OR13C5	138799	broad.mit.edu	37	9	107360884	107360884	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107360884C>A	ENST00000374779.2	-	1	904	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D271Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCCAAGTCATCTGAATTAAGT	0.418																																							uc011lvp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(811-813)GAT>TAT		olfactory receptor, family 13, subfamily C,							134.0	123.0	127.0					9																	107360884		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360884C>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.811G>T	9.37:g.107360884C>A	ENSP00000363911:p.Asp271Tyr						p.D271Y	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	811	-			271			Extracellular (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.811G>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777419	0.31411	.	.	ENSG00000255800	ENST00000374779	T	0.00152	8.66	3.33	3.16E-4	0.14042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.66351	0.943	T	0.61451	-0.7060	9	0.87932	D	0	.	12.0055	0.53257	0.0:0.4871:0.5129:0.0	.	271	Q8NGS8	O13C5_HUMAN	Y	271	ENSP00000363911:D271Y	ENSP00000363911:D271Y	D	-	1	0	OR13C5	106400705	0.007000	0.16637	0.001000	0.08648	0.097000	0.18754	0.711000	0.25764	-0.089000	0.12484	0.423000	0.28283	GAT		0.418	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		5	58	1	0	2.7689e-08	0.001984	3.71198e-08	5	58				
OR13C2	392376	broad.mit.edu	37	9	107367473	107367473	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107367473C>T	ENST00000542196.1	-	1	478	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A146T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAGGACCCAGCTGCCATGGGT	0.468																																							uc011lvq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(436-438)GCT>ACT		olfactory receptor, family 13, subfamily C,							77.0	101.0	93.0					9																	107367473		2203	4298	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367473C>T		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.436G>A	9.37:g.107367473C>T	ENSP00000438815:p.Ala146Thr						p.A146T	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	436	-			146			Helical; Name=4; (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.436G>A	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	7.482	0.648882	0.14516	.	.	ENSG00000257019	ENST00000542196	T	0.39997	1.05	3.53	-0.719	0.11201	GPCR, rhodopsin-like superfamily (1);	0.474134	0.15420	U	0.263315	T	0.28928	0.0718	L	0.45422	1.42	0.09310	N	1	B	0.06786	0.001	B	0.17722	0.019	T	0.19095	-1.0316	10	0.46703	T	0.11	.	4.2888	0.10867	0.1585:0.5425:0.0:0.299	.	146	Q8NGS9	O13C2_HUMAN	T	146	ENSP00000438815:A146T	ENSP00000438815:A146T	A	-	1	0	OR13C2	106407294	0.000000	0.05858	0.354000	0.25760	0.650000	0.38633	-0.619000	0.05572	-0.075000	0.12798	-0.369000	0.07265	GCT		0.468	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		6	60	0	0	0	0.006214	0	6	60				
ABCA1	19	broad.mit.edu	37	9	107591340	107591340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107591340C>G	ENST00000374736.3	-	15	2366	c.1972G>C	c.(1972-1974)Ggc>Cgc	p.G658R	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	658					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G658R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TACACGATGCCCTTGATGATC	0.547																																							uc004bcl.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(1972-1974)GGC>CGC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	93.0	102.0					9																	107591340		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591340C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1972G>C	9.37:g.107591340C>G	ENSP00000363868:p.Gly658Arg						p.G658R	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2285	-			658			Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1972G>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677216	0.88445	.	.	ENSG00000165029	ENST00000374736	D	0.87571	-2.27	5.8	2.98	0.34508	.	0.188811	0.56097	D	0.000025	D	0.87708	0.6245	L	0.39514	1.22	0.80722	D	1	P	0.37955	0.612	P	0.55011	0.766	T	0.82313	-0.0519	10	0.29301	T	0.29	.	10.3582	0.43977	0.0:0.7876:0.0:0.2124	.	658	O95477	ABCA1_HUMAN	R	658	ENSP00000363868:G658R	ENSP00000363868:G658R	G	-	1	0	ABCA1	106631161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.725000	0.47294	0.376000	0.24707	0.655000	0.94253	GGC		0.547	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		9	75	0	0	0	0.006214	0	9	75				
ZNF462	58499	broad.mit.edu	37	9	109692040	109692040	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:109692040G>A	ENST00000277225.5	+	3	6136	c.5847G>A	c.(5845-5847)agG>agA	p.R1949R	ZNF462_ENST00000457913.1_Splice_Site_p.R1949R|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000441147.2_Splice_Site_p.R794R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1949					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1949R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAAGAGAGGGTAAGGATAT	0.493																																							uc004bcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(5845-5847)AGG>AGA		zinc finger protein 462							96.0	95.0	95.0					9																	109692040		2203	4300	6503	SO:0001630	splice_region_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109692040G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5847+1G>A	9.37:g.109692040G>A						ZNF462_uc010mto.2_Silent_p.R1797R|ZNF462_uc004bda.2_Silent_p.R1797R|ZNF462_uc011lvz.1_5'Flank	p.R1949R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	6136	+			1949					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.5847G>A	CCDS35096.1																																																																																				0.493	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	Silent	9	102	0	0	0	0.006214	0	9	102				
SVEP1	79987	broad.mit.edu	37	9	113148238	113148238	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113148238G>T	ENST00000401783.2	-	43	10513	c.10177C>A	c.(10177-10179)Cac>Aac	p.H3393N	SVEP1_ENST00000297826.5_Missense_Mutation_p.H1319N|SVEP1_ENST00000374469.1_Missense_Mutation_p.H3370N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3393	Sushi 33. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.H3396N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGATGCCGTGGCCCTGCAGC	0.502																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(10177-10179)CAC>AAC		polydom							104.0	101.0	102.0					9																	113148238		2005	4188	6193	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113148238G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10177C>A	9.37:g.113148238G>T	ENSP00000384917:p.His3393Asn					SVEP1_uc010mty.2_Missense_Mutation_p.H1319N	p.H3393N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			43	10514	-			3393			Sushi 33.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10177C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	4.691	0.128569	0.08981	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.62639	0.01;0.01;0.01	5.08	0.987	0.19790	Complement control module (2);Sushi/SCR/CCP (3);	0.557707	0.20713	N	0.087044	T	0.28034	0.0691	N	0.02011	-0.69	0.21220	N	0.999752	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.19147	T	0.46	.	6.3437	0.21337	0.0682:0.2503:0.5552:0.1264	.	3393	Q4LDE5	SVEP1_HUMAN	N	3393;3370;1319	ENSP00000384917:H3393N;ENSP00000363593:H3370N;ENSP00000297826:H1319N	ENSP00000297826:H1319N	H	-	1	0	SVEP1	112188059	0.001000	0.12720	0.130000	0.21974	0.803000	0.45373	0.475000	0.22164	-0.014000	0.14175	-0.155000	0.13514	CAC		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	55	1	0	1.08611e-07	0.000978	1.42024e-07	9	55				
SVEP1	79987	broad.mit.edu	37	9	113234499	113234499	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113234499G>T	ENST00000401783.2	-	15	3040	c.2704C>A	c.(2704-2706)Cgg>Agg	p.R902R	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.R902R|SVEP1_ENST00000374469.1_Silent_p.R879R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	902					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R902W(1)|p.R902R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTTTAATCCGTGAGGACTTG	0.403																																							uc010mtz.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(7)	7						c.(2704-2706)CGG>AGG		polydom							159.0	161.0	160.0					9																	113234499		1927	4139	6066	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113234499G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2704C>A	9.37:g.113234499G>T						SVEP1_uc010mua.1_Silent_p.R902R	p.R902R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			15	3041	-			902					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.2704C>A	CCDS48004.1																																																																																				0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	182	1	0	2.48779e-11	0.005443	3.7431e-11	23	182				
MUSK	4593	broad.mit.edu	37	9	113562997	113562997	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113562997C>T	ENST00000374448.4	+	15	2473	c.2339C>T	c.(2338-2340)aCt>aTt	p.T780I	MUSK_ENST00000416899.2_Missense_Mutation_p.T772I|MUSK_ENST00000189978.5_Missense_Mutation_p.T780I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T780I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AACCGCTACACTACAGAGTCT	0.498																																							uc004bey.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2338-2340)ACT>ATT		skeletal muscle receptor tyrosine kinase							81.0	80.0	80.0					9																	113562997		1975	4160	6135	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562997C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2339C>T	9.37:g.113562997C>T	ENSP00000363571:p.Thr780Ile					MUSK_uc004bez.1_Missense_Mutation_p.T360I	p.T780I	NM_005592	NP_005583	O15146	MUSK_HUMAN			14	2437	+			780			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2339C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360437	0.82353	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.55588	0.51	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83148	-0.0105	10	0.87932	D	0	.	18.355	0.90355	0.0:1.0:0.0:0.0	.	780	O15146	MUSK_HUMAN	I	786;780;780;694;694;778	ENSP00000363571:T780I	ENSP00000189978:T786I	T	+	2	0	MUSK	112602818	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.772000	0.85439	2.636000	0.89361	0.557000	0.71058	ACT		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	107	0	0	0	0.008291	0	10	107				
C9orf43	257169	broad.mit.edu	37	9	116191477	116191477	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116191477C>A	ENST00000288462.4	+	14	1643	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	C9orf43_ENST00000374165.1_Silent_p.P399P	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	399								p.P399P(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AAACAGAACCCACTAACAAGG	0.428																																							uc004bho.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1195-1197)CCC>CCA		hypothetical protein LOC257169							158.0	154.0	155.0					9																	116191477		2203	4300	6503	SO:0001819	synonymous_variant	257169							g.chr9:116191477C>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1197C>A	9.37:g.116191477C>A						C9orf43_uc004bhp.2_Silent_p.P399P	p.P399P	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN			14	1593	+			399						Silent	SNP	ENST00000288462.4	37	c.1197C>A	CCDS6796.1																																																																																				0.428	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		21	191	1	0	7.45023e-12	0.010504	1.13836e-11	21	191				
RGS3	5998	broad.mit.edu	37	9	116299126	116299126	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116299126G>T	ENST00000374140.2	+	20	2174	c.1965G>T	c.(1963-1965)aaG>aaT	p.K655N	RGS3_ENST00000350696.5_Missense_Mutation_p.K655N|RGS3_ENST00000394646.3_Missense_Mutation_p.K374N|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000374136.1_Missense_Mutation_p.K281N|RGS3_ENST00000317613.6_Missense_Mutation_p.K543N|RGS3_ENST00000343817.5_Missense_Mutation_p.K374N	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	655					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K655N(1)|p.K543N(1)|p.K551N(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCAGAAGAAGAGAGTGTGCT	0.572																																							uc004bhq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(1963-1965)AAG>AAT		regulator of G-protein signalling 3 isoform 6							126.0	114.0	118.0					9																	116299126		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116299126G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1965G>T	9.37:g.116299126G>T	ENSP00000363255:p.Lys655Asn					RGS3_uc004bhr.2_Missense_Mutation_p.K543N|RGS3_uc004bhs.2_Missense_Mutation_p.K545N|RGS3_uc004bht.2_Missense_Mutation_p.K374N|RGS3_uc010muy.2_Missense_Mutation_p.K374N|RGS3_uc004bhu.2_Missense_Mutation_p.K281N|RGS3_uc004bhv.2_5'UTR	p.K655N	NM_144488	NP_652759	P49796	RGS3_HUMAN			20	2174	+			655					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1965G>T	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.476904|4.476904	0.84640|0.84640	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000496113|ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	.|T;T;T;T;T;T	.|0.62639	.|0.01;0.01;0.01;0.01;2.53;0.01	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Pleckstrin homology-type (1);	.|0.066267	.|0.64402	.|D	.|0.000016	.|T	.|0.77177	.|0.4092	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.981;1.0;0.997;0.995;1.0;1.0	.|D;D;D;P;D;D	.|0.85130	.|0.95;0.996;0.933;0.858;0.997;0.96	.|T	.|0.78989	.|-0.1986	.|10	.|0.87932	.|D	.|0	.|.	16.1637|16.1637	0.81739|0.81739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|374;281;374;545;543;655	.|B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.|.;.;.;.;.;RGS3_HUMAN	X|N	110|655;655;543;374;374;281	.|ENSP00000363255:K655N;ENSP00000259406:K655N;ENSP00000312844:K543N;ENSP00000340284:K374N;ENSP00000378141:K374N;ENSP00000363251:K281N	.|ENSP00000312844:K543N	E|K	+|+	1|3	0|2	RGS3|RGS3	115338947|115338947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.940000|4.940000	0.63533|0.63533	2.595000|2.595000	0.87683|0.87683	0.563000|0.563000	0.77884|0.77884	GAG|AAG		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		20	184	1	0	2.94398e-08	0.007413	3.93064e-08	20	184				
COL27A1	85301	broad.mit.edu	37	9	116931016	116931016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116931016C>G	ENST00000356083.3	+	3	1572	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	394	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.S394C(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGCTCCATCTTCATTTACA	0.547																																							uc011lxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1180-1182)TCT>TGT		collagen, type XXVII, alpha 1 precursor							133.0	139.0	137.0					9																	116931016		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931016C>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1181C>G	9.37:g.116931016C>G	ENSP00000348385:p.Ser394Cys					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S244C	p.S394C	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	1181	+			394			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1181C>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287671	0.10513	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91631	-2.63;-2.88	4.42	2.36	0.29203	.	.	.	.	.	T	0.80874	0.4707	N	0.08118	0	0.09310	N	1	P;B	0.36438	0.553;0.118	B;B	0.31191	0.125;0.078	T	0.73036	-0.4109	9	0.72032	D	0.01	.	8.5986	0.33732	0.4181:0.5819:0.0:0.0	.	394;341	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	C	394;394;341;341	ENSP00000348385:S394C;ENSP00000391328:S341C	ENSP00000348385:S394C	S	+	2	0	COL27A1	115970837	0.000000	0.05858	0.089000	0.20774	0.048000	0.14542	0.249000	0.18216	0.818000	0.34468	0.462000	0.41574	TCT		0.547	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		43	281	0	0	0	0.003214	0	43	281				
TRIM32	22954	broad.mit.edu	37	9	119460463	119460463	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:119460463G>T	ENST00000450136.1	+	2	603	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.D148Y|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	148					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D148Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGCGTCGGGACTTTGGAGA	0.587																																					Esophageal Squamous(92;212 1916 19711 26951)	Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(442-444)GAC>TAC		tripartite motif-containing 32							49.0	56.0	53.0					9																	119460463		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460463G>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.442G>T	9.37:g.119460463G>T	ENSP00000408292:p.Asp148Tyr					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.D148Y	p.D148Y	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	600	+			148			Potential.		Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.442G>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566541	0.28003	.	.	ENSG00000119401	ENST00000450136;ENST00000373983;ENST00000411410	T;T;T	0.65364	-0.15;-0.15;0.45	5.36	4.41	0.53225	.	0.407487	0.24115	N	0.041411	T	0.43299	0.1241	N	0.19112	0.55	0.34399	D	0.695096	B	0.26318	0.146	B	0.21917	0.037	T	0.51252	-0.8729	9	.	.	.	-25.6418	11.1772	0.48606	0.0756:0.1412:0.7832:0.0	.	148	Q13049	TRI32_HUMAN	Y	148	ENSP00000408292:D148Y;ENSP00000363095:D148Y;ENSP00000412603:D148Y	.	D	+	1	0	TRIM32	118500284	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	6.332000	0.72934	2.486000	0.83907	0.655000	0.94253	GAC		0.587	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		21	124	1	0	4.16121e-05	0.00278	4.80873e-05	21	124				
TLR4	7099	broad.mit.edu	37	9	120474737	120474737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:120474737G>T	ENST00000355622.6	+	3	432	c.331G>T	c.(331-333)Gga>Tga	p.G111*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.G71*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	111					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.G111*(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)	AATATTGACAGGAAACCCCAT	0.428																																							uc004bjz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(331-333)GGA>TGA		toll-like receptor 4 precursor							54.0	55.0	55.0					9																	120474737		2203	4300	6503	SO:0001587	stop_gained	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.chr9:120474737G>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.331G>T	9.37:g.120474737G>T	ENSP00000363089:p.Gly111*					TLR4_uc004bka.2_Nonsense_Mutation_p.G71*|TLR4_uc004bkb.2_Translation_Start_Site	p.G111*	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	622	+			111			LRR 3.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.331G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079780	0.94050	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.35	5.35	0.76521	.	0.102320	0.43110	D	0.000612	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0681	0.93122	0.0:0.0:1.0:0.0	.	.	.	.	X	71;111	.	ENSP00000363089:G111X	G	+	1	0	TLR4	119514558	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	5.459000	0.66685	2.510000	0.84645	0.655000	0.94253	GGA		0.428	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		7	71	1	0	0.00198382	0.001984	0.00212876	7	71				
TLR4	7099	broad.mit.edu	37	9	120476443	120476443	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:120476443C>A	ENST00000355622.6	+	3	2138	c.2037C>A	c.(2035-2037)atC>atA	p.I679I	TLR4_ENST00000394487.4_Silent_p.I639I|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	679	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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.I679I(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)	CCTTTGTTATCTACTCAAGCC	0.418																																							uc004bjz.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2035-2037)ATC>ATA		toll-like receptor 4 precursor							116.0	106.0	110.0					9																	120476443		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.chr9:120476443C>A	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.2037C>A	9.37:g.120476443C>A						TLR4_uc004bka.2_Silent_p.I639I|TLR4_uc004bkb.2_Silent_p.I479I	p.I679I	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2328	+			679			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2037C>A	CCDS6818.1																																																																																				0.418	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		9	73	1	0	7.48243e-07	0.006214	9.3972e-07	9	73				
OR1J2	26740	broad.mit.edu	37	9	125273139	125273139	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125273139G>T	ENST00000335302.5	+	1	59	c.59G>T	c.(58-60)cGg>cTg	p.R20L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTCCCCATCCGGCCAGAGCAG	0.567																																							uc004bmj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(1)|breast(1)	5						c.(58-60)CGG>CTG		olfactory receptor, family 1, subfamily J,							176.0	161.0	166.0					9																	125273139		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273139G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.59G>T	9.37:g.125273139G>T	ENSP00000335575:p.Arg20Leu					OR1J2_uc011lyv.1_Missense_Mutation_p.R20L	p.R20L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	914	+			20			Extracellular (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.59G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034473	0.54896	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01076	5.37	4.93	-9.03	0.00737	.	1.657130	0.04637	U	0.404725	T	0.00637	0.0021	N	0.04820	-0.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.50189	-0.8857	10	0.59425	D	0.04	.	3.6787	0.08302	0.4397:0.2458:0.2316:0.0828	.	20	Q8NGS2	OR1J2_HUMAN	L	20	ENSP00000335575:R20L	ENSP00000335575:R20L	R	+	2	0	OR1J2	124312960	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	-5.718000	0.00102	-1.933000	0.01052	-1.245000	0.01525	CGG		0.567	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			22	200	1	0	7.87624e-14	0.00278	1.27471e-13	22	200				
OR1Q1	158131	broad.mit.edu	37	9	125377564	125377564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125377564C>T	ENST00000297913.2	+	1	617	c.548C>T	c.(547-549)gCt>gTt	p.A183V	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	183					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.A183F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCTCTACGCTCTGATGAAG	0.493																																							uc011lyy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)GCT>GTT		olfactory receptor, family 1, subfamily Q,							168.0	156.0	160.0					9																	125377564		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377564C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.548C>T	9.37:g.125377564C>T	ENSP00000297913:p.Ala183Val						p.A183V	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	548	+			183			Extracellular (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.548C>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402965	0.62288	.	.	ENSG00000165202	ENST00000297913	T	0.00152	8.66	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.136171	0.34178	N	0.004194	T	0.00144	0.0004	N	0.17901	0.54	0.09310	N	1	B	0.30563	0.285	B	0.33846	0.171	T	0.66594	-0.5884	10	0.33141	T	0.24	-16.5007	18.4898	0.90843	0.0:1.0:0.0:0.0	.	183	Q15612	OR1Q1_HUMAN	V	183	ENSP00000297913:A183V	ENSP00000297913:A183V	A	+	2	0	OR1Q1	124417385	0.000000	0.05858	0.973000	0.42090	0.927000	0.56198	0.982000	0.29539	2.902000	0.99343	0.650000	0.86243	GCT		0.493	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			9	149	0	0	0	0.001855	0	9	149				
RC3H2	54542	broad.mit.edu	37	9	125617621	125617621	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125617621C>A	ENST00000373670.1	-	14	3257	c.2657G>T	c.(2656-2658)aGg>aTg	p.R886M	RC3H2_ENST00000357244.2_Missense_Mutation_p.R886M|RC3H2_ENST00000423239.2_Missense_Mutation_p.R886M			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	886					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R886M(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTTTTGTCCTTCTCTGGGT	0.398																																							uc010mwc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(2656-2658)AGG>ATG		ring finger and CCCH-type zinc finger domains 2							155.0	143.0	147.0					9																	125617621		1885	4115	6000	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125617621C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2657G>T	9.37:g.125617621C>A	ENSP00000362774:p.Arg886Met					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.R886M|RC3H2_uc004bne.3_Missense_Mutation_p.R886M	p.R886M	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			15	2898	-			886					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2657G>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951938	0.73787	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.58652	0.32;0.32;0.37	5.03	5.03	0.67393	.	0.049133	0.85682	D	0.000000	T	0.61999	0.2392	L	0.49126	1.545	0.80722	D	1	P;D	0.54207	0.94;0.965	B;P	0.50192	0.431;0.634	T	0.66909	-0.5804	10	0.87932	D	0	-30.8445	15.8704	0.79115	0.0:1.0:0.0:0.0	.	886;886	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	M	886;886;757;886;21	ENSP00000362774:R886M;ENSP00000349783:R886M;ENSP00000411767:R886M	ENSP00000349783:R886M	R	-	2	0	RC3H2	124657442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.066000	0.76734	2.489000	0.83994	0.655000	0.94253	AGG		0.398	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		12	109	1	0	4.3838e-07	0.001855	5.56242e-07	12	109				
DENND1A	57706	broad.mit.edu	37	9	126146038	126146038	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:126146038G>C	ENST00000373624.2	-	21	1933	c.1732C>G	c.(1732-1734)Ctg>Gtg	p.L578V	DENND1A_ENST00000542603.1_Missense_Mutation_p.L363V|DENND1A_ENST00000394219.3_Missense_Mutation_p.L589V|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	578					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L578V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCCATGTCCAGGTTGCTGAAG	0.622																																							uc004bnz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1732-1734)CTG>GTG		DENN/MADD domain containing 1A isoform 1							73.0	71.0	72.0					9																	126146038		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146038G>C	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1732C>G	9.37:g.126146038G>C	ENSP00000362727:p.Leu578Val					DENND1A_uc011lzl.1_Missense_Mutation_p.L396V|DENND1A_uc004bny.1_Missense_Mutation_p.L360V|DENND1A_uc011lzm.1_Missense_Mutation_p.L589V|DENND1A_uc010mwh.1_5'UTR	p.L578V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			21	1965	-			578					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1732C>G	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301526	0.60195	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.34275	2.86;1.37;2.68	5.14	2.26	0.28386	.	0.070349	0.56097	D	0.000023	T	0.49508	0.1561	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.996	D;D;P;P	0.65987	0.917;0.94;0.876;0.824	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.276	7.896	0.29706	0.3749:0.0:0.6251:0.0	.	589;579;578;441	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	V	578;363;589	ENSP00000362727:L578V;ENSP00000437457:L363V;ENSP00000377766:L589V	ENSP00000362727:L578V	L	-	1	2	DENND1A	125185859	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.075000	0.50073	1.156000	0.42514	0.555000	0.69702	CTG		0.622	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		9	108	0	0	0	0.006214	0	9	108				
GOLGA1	2800	broad.mit.edu	37	9	127660853	127660853	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:127660853T>A	ENST00000373555.4	-	15	1715	c.1382A>T	c.(1381-1383)cAc>cTc	p.H461L	AL354928.1_ENST00000580940.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	461	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.H461L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCAAATTGGTGATTTTGTAA	0.338																																							uc004bpc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1381-1383)CAC>CTC		golgin 97							164.0	164.0	164.0					9																	127660853		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127660853T>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1382A>T	9.37:g.127660853T>A	ENSP00000362656:p.His461Leu					GOLGA1_uc010mws.2_RNA	p.H461L	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			15	1724	-			461			Potential.|Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1382A>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687982	0.29962	.	.	ENSG00000136935	ENST00000373555	T	0.21734	1.99	5.55	4.41	0.53225	.	0.134558	0.34088	N	0.004267	T	0.17280	0.0415	L	0.43152	1.355	0.23649	N	0.997207	P	0.44734	0.842	P	0.45343	0.477	T	0.07809	-1.0753	10	0.02654	T	1	-4.162	8.4563	0.32901	0.0:0.0885:0.0:0.9115	.	461	Q92805	GOGA1_HUMAN	L	461	ENSP00000362656:H461L	ENSP00000362656:H461L	H	-	2	0	GOLGA1	126700674	1.000000	0.71417	0.752000	0.31206	0.446000	0.32137	4.077000	0.57598	1.036000	0.39998	0.533000	0.62120	CAC		0.338	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		19	145	0	0	0	0.002299	0	19	145				
GAPVD1	26130	broad.mit.edu	37	9	128061359	128061359	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:128061359C>A	ENST00000495955.1	+	4	449	c.159C>A	c.(157-159)atC>atA	p.I53I	GAPVD1_ENST00000394084.1_Silent_p.I53I|GAPVD1_ENST00000470056.1_Silent_p.I53I|GAPVD1_ENST00000394083.2_Silent_p.I53I|GAPVD1_ENST00000394105.2_Silent_p.I53I|GAPVD1_ENST00000312123.9_Silent_p.I53I|GAPVD1_ENST00000297933.6_Silent_p.I53I|GAPVD1_ENST00000394104.2_Silent_p.I53I|GAPVD1_ENST00000265956.4_Silent_p.I53I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	53					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I53I(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACAGAGAATCAATTTGGATC	0.348																																							uc010mwx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(157-159)ATC>ATA		GTPase activating protein and VPS9 domains 1							109.0	101.0	104.0					9																	128061359		2203	4300	6503	SO:0001819	synonymous_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128061359C>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.159C>A	9.37:g.128061359C>A						GAPVD1_uc004bpo.2_Silent_p.I53I|GAPVD1_uc011lzs.1_Silent_p.I53I|GAPVD1_uc004bpp.2_Silent_p.I53I|GAPVD1_uc004bpq.2_Silent_p.I53I|GAPVD1_uc004bpr.2_Silent_p.I53I|GAPVD1_uc004bps.2_Silent_p.I53I|GAPVD1_uc010mwy.1_5'Flank	p.I53I	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			4	485	+			53					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37	c.159C>A																																																																																					0.348	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			10	93	1	0	1.52009e-12	0.003163	2.37801e-12	10	93				
CIZ1	25792	broad.mit.edu	37	9	130941553	130941553	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:130941553G>A	ENST00000393608.1	-	8	1135	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CIZ1_ENST00000277465.4_Silent_p.F311F|CIZ1_ENST00000325721.8_Silent_p.F282F|CIZ1_ENST00000372954.1_Silent_p.F287F|CIZ1_ENST00000541172.1_Silent_p.F210F|CIZ1_ENST00000372948.3_Silent_p.F311F|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Silent_p.F311F|CIZ1_ENST00000372938.5_Silent_p.F311F|CIZ1_ENST00000357558.5_Silent_p.F311F	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	311	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.F311F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CCCGTGGCTGGAATCGTGGCA	0.632																																							uc004btt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(931-933)TTC>TTT		CDKN1A interacting zinc finger protein 1 isoform							88.0	88.0	88.0					9																	130941553		2203	4300	6503	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941553G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.933C>T	9.37:g.130941553G>A						CIZ1_uc004btr.2_Silent_p.F311F|CIZ1_uc004bts.2_Silent_p.F282F|CIZ1_uc011maq.1_Silent_p.F306F|CIZ1_uc004btu.2_Silent_p.F287F|CIZ1_uc011mar.1_Silent_p.F210F|CIZ1_uc011mas.1_Silent_p.F341F|CIZ1_uc004btw.2_Silent_p.F311F|CIZ1_uc004btv.2_Silent_p.F311F|CIZ1_uc004btx.2_Silent_p.F287F	p.F311F	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			8	1096	-			311			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.933C>T	CCDS6894.1																																																																																				0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		18	117	0	0	0	0.008871	0	18	117				
NUP188	23511	broad.mit.edu	37	9	131744890	131744890	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:131744890G>T	ENST00000372577.2	+	16	1600	c.1579G>T	c.(1579-1581)Gca>Tca	p.A527S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	527					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A527S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGATAGGGCATACCTGGT	0.458																																							uc004bws.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1579-1581)GCA>TCA		nucleoporin 188kDa							151.0	126.0	135.0					9																	131744890		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131744890G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1579G>T	9.37:g.131744890G>T	ENSP00000361658:p.Ala527Ser					NUP188_uc004bwu.2_5'Flank	p.A527S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			16	1601	+			527					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1579G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633763	0.47049	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.28666	1.6	5.71	5.71	0.89125	.	0.048028	0.85682	D	0.000000	T	0.19485	0.0468	N	0.03608	-0.345	0.49051	D	0.999745	P	0.42456	0.78	B	0.43301	0.415	T	0.12811	-1.0533	10	0.22109	T	0.4	-18.2296	18.8346	0.92157	0.0:0.0:1.0:0.0	.	527	Q5SRE5	NU188_HUMAN	S	416;527	ENSP00000361658:A527S	ENSP00000349125:A416S	A	+	1	0	NUP188	130784711	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.358000	0.79466	2.710000	0.92621	0.491000	0.48974	GCA		0.458	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			16	127	1	0	3.32936e-07	0.006122	4.24914e-07	16	127				
ASB6	140459	broad.mit.edu	37	9	132400147	132400147	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:132400147G>C	ENST00000277458.4	-	6	1353	c.1188C>G	c.(1186-1188)gtC>gtG	p.V396V	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Silent_p.V317V	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	396	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.V396V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCTTTGACCTTCACAT	0.602																																							uc004byf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1186-1188)GTC>GTG		ankyrin repeat and SOCS box-containing 6 isoform							66.0	62.0	64.0					9																	132400147		2203	4300	6503	SO:0001819	synonymous_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132400147G>C		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1188C>G	9.37:g.132400147G>C						ASB6_uc004bye.1_Silent_p.V321V|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Silent_p.V317V|ASB6_uc010myx.1_Silent_p.V367V	p.V396V	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN			6	1354	-		Ovarian(14;0.00556)	396			SOCS box.		Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	c.1188C>G	CCDS6924.1																																																																																				0.602	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		11	81	0	0	0	0.000978	0	11	81				
ASS1	445	broad.mit.edu	37	9	133342122	133342122	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:133342122C>G	ENST00000372394.1	+	7	912	c.431C>G	c.(430-432)cCc>cGc	p.P144R	ASS1_ENST00000372393.3_Missense_Mutation_p.P144R|ASS1_ENST00000352480.5_Missense_Mutation_p.P144R|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	144					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.P144R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTCATTGCTCCCTGGAGGATG	0.612																																							uc004bzm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)CCC>CGC		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						87.0	73.0	78.0					9																	133342122		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133342122C>G	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.431C>G	9.37:g.133342122C>G	ENSP00000361471:p.Pro144Arg					ASS1_uc004bzn.2_Missense_Mutation_p.P144R|ASS1_uc010mza.2_Missense_Mutation_p.P220R|ASS1_uc004bzo.2_Missense_Mutation_p.P125R|ASS1_uc010mzb.2_Missense_Mutation_p.P182R|ASS1_uc004bzp.2_Missense_Mutation_p.P144R|ASS1_uc010mzc.2_Missense_Mutation_p.P144R	p.P144R	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	7	787	+			144					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.431C>G	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525630	0.64860	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36;-6.36	4.79	4.79	0.61399	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	U	0.000000	D	0.99862	0.9935	H	0.99042	4.41	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	0.96249	0.9182	10	0.87932	D	0	.	16.8195	0.85742	0.0:1.0:0.0:0.0	.	144;144;144	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	R	144;144;144;144;144;125	ENSP00000253004:P144R;ENSP00000361471:P144R;ENSP00000361469:P144R;ENSP00000394212:P144R;ENSP00000397785:P125R	ENSP00000361470:P144R	P	+	2	0	ASS1	132331943	1.000000	0.71417	0.997000	0.53966	0.521000	0.34408	7.073000	0.76784	2.187000	0.69744	0.462000	0.41574	CCC		0.612	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		6	58	0	0	0	0.001984	0	6	58				
PRRC2B	84726	broad.mit.edu	37	9	134353267	134353267	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:134353267G>T	ENST00000357304.4	+	16	4598	c.4543G>T	c.(4543-4545)Gcc>Tcc	p.A1515S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A821S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A821S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1515							poly(A) RNA binding (GO:0044822)	p.A1515S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAGAAGGAGGCCAAGTTGGC	0.567																																							uc004can.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(4543-4545)GCC>TCC		HLA-B associated transcript 2-like							68.0	74.0	72.0					9																	134353267		2023	4163	6186	SO:0001583	missense	84726						protein binding	g.chr9:134353267G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4543G>T	9.37:g.134353267G>T	ENSP00000349856:p.Ala1515Ser					BAT2L1_uc004cao.3_Missense_Mutation_p.A873S	p.A1515S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			16	4598	+			1515					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4543G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.340|3.340	-0.134803|-0.134803	0.06711|0.06711	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.02579|.	4.24;4.54;4.24|.	5.24|5.24	1.01|1.01	0.19927|0.19927	.|.	0.643861|.	0.12524|.	U|.	0.461416|.	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.04636|0.04636	-0.2|-0.2	0.19945|0.19945	N|N	0.999949|0.999949	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.003|.	T|T	0.27468|0.27468	-1.0073|-1.0073	10|5	0.12430|.	T|.	0.62|.	-10.5946|-10.5946	2.7131|2.7131	0.05180|0.05180	0.0878:0.2058:0.3306:0.3758|0.0878:0.2058:0.3306:0.3758	.|.	248;1515|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	S|V	821;1515;821|248	ENSP00000384606:A821S;ENSP00000349856:A1515S;ENSP00000398853:A821S|.	ENSP00000349856:A1515S|.	A|G	+|+	1|2	0|0	PRRC2B|PRRC2B	133343088|133343088	0.072000|0.072000	0.21174|0.21174	0.703000|0.703000	0.30354|0.30354	0.605000|0.605000	0.37080|0.37080	0.005000|0.005000	0.13129|0.13129	0.679000|0.679000	0.31345|0.31345	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	87	1	0	1.77063e-15	0.005443	2.98339e-15	22	87				
POMT1	10585	broad.mit.edu	37	9	134394319	134394319	+	Silent	SNP	C	C	T	rs373482514		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:134394319C>T	ENST00000372228.3	+	15	1706	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	POMT1_ENST00000419118.2_Silent_p.N335N|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000541219.1_Silent_p.N265N|POMT1_ENST00000404875.2_Silent_p.N370N|POMT1_ENST00000402686.3_Silent_p.N487N|POMT1_ENST00000354713.4_Silent_p.N457N|POMT1_ENST00000341012.7_Silent_p.N433N|POMT1_ENST00000423007.1_Silent_p.N487N|RP11-334J6.6_ENST00000415423.1_RNA	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	509	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.N509N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CGGTGTGGAACGTGGAGGAGC	0.622																																							uc004cav.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1525-1527)AAC>AAT		protein-O-mannosyltransferase 1 isoform a		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	49.0	48.0	49.0		1461,1299,1461,1110,1527	-5.0	0.4	9		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	487/726,433/672,487/726,370/609,509/748	134394319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134394319C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1527C>T	9.37:g.134394319C>T						POMT1_uc004cax.2_Silent_p.N487N|POMT1_uc011mcj.1_Silent_p.N265N|POMT1_uc004cau.2_Silent_p.N487N|POMT1_uc004caw.2_Silent_p.N433N|POMT1_uc011mck.1_Silent_p.N370N|POMT1_uc011mcl.1_Silent_p.N335N|POMT1_uc011mcm.1_Silent_p.N457N|POMT1_uc011mcn.1_3'UTR	p.N509N	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	15	1729	+		Myeloproliferative disorder(178;0.204)	509			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1527C>T	CCDS6943.1																																																																																				0.622	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		15	96	0	0	0	0.004007	0	15	96				
STKLD1	169436	broad.mit.edu	37	9	136260790	136260790	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136260790C>A	ENST00000371957.3	+	9	873	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L256M(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGGCCGTCCTGAAGACAAT	0.552																																							uc004cdk.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(766-768)CTG>ATG		hypothetical protein LOC169436							76.0	77.0	77.0					9																	136260790		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136260790C>A																												ENST00000371957.3:c.766C>A	9.37:g.136260790C>A	ENSP00000361025:p.Leu256Met					C9orf96_uc004cdl.2_RNA	p.L256M	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	827	+			256			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.766C>A	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806166	0.50421	.	.	ENSG00000198870	ENST00000371957	T	0.68765	-0.35	4.86	2.97	0.34412	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117593	0.37483	N	0.002065	T	0.76011	0.3928	M	0.68317	2.08	0.24781	N	0.992814	D	0.76494	0.999	D	0.75484	0.986	T	0.64736	-0.6337	10	0.66056	D	0.02	-24.0731	7.8754	0.29590	0.0:0.7938:0.0:0.2062	.	256	Q8NE28	SGK71_HUMAN	M	256	ENSP00000361025:L256M	ENSP00000361025:L256M	L	+	1	2	C9orf96	135250611	0.653000	0.27358	0.034000	0.17996	0.110000	0.19582	0.895000	0.28363	1.173000	0.42796	0.462000	0.41574	CTG		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			12	74	1	0	6.40141e-05	0.000978	7.35004e-05	12	74				
DBH	1621	broad.mit.edu	37	9	136501727	136501727	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136501727G>T	ENST00000393056.2	+	1	246	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	78	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V78V(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGCTCCTGGTGCGGAGGCTCA	0.622																																							uc004cel.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(232-234)GTG>GTT		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						68.0	52.0	57.0					9																	136501727		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501727G>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.234G>T	9.37:g.136501727G>T							p.V78V	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	243	+			78			DOMON.|Intragranular (Potential).		Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.234G>T	CCDS6977.2																																																																																				0.622	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	49	1	0	0.00024832	0.009096	0.000278935	4	49				
COL5A1	1289	broad.mit.edu	37	9	137664635	137664635	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137664635G>A	ENST00000371817.3	+	26	2700		c.e26-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTTGTGACAGGGACACCCTG	0.587																																							uc004cfe.2		NA																	1	Unknown(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.e26-1		alpha 1 type V collagen preproprotein							106.0	111.0	109.0					9																	137664635		2203	4300	6503	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137664635G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2287-1G>A	9.37:g.137664635G>A							p.G763_splice	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	26	2669	+		Myeloproliferative disorder(178;0.0341)						Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2287_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871778	0.72180	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9829	0.58575	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136804456	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.969000	0.76092	2.101000	0.63845	0.655000	0.94253	.		0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	10	142	0	0	0	0.001368	0	10	142				
COL5A1	1289	broad.mit.edu	37	9	137708881	137708882	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137708881_137708882GG>TT	ENST00000371817.3	+	53	4546_4547	c.4132_4133GG>TT	c.(4132-4134)GGc>TTc	p.G1378F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1378	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G1378F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGATCCCCCGGCCCTACTGGT	0.52																																							uc004cfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4132-4134)GGC>TTC		alpha 1 type V collagen preproprotein																																				SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137708881_137708882GG>TT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	Exception_encountered	9.37:g.137708881_137708882delinsTT	ENSP00000360882:p.Gly1378Phe						p.G1378F	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	53	4514_4515	+		Myeloproliferative disorder(178;0.0341)	1378			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	DNP	ENST00000371817.3	37	c.4132_4133GG>TT	CCDS6982.1																																																																																				0.520	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		19	122	0	0	0	0.004672	0	19	122				
FCN1	2219	broad.mit.edu	37	9	137801875	137801875	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137801875G>T	ENST00000371806.3	-	9	841	c.750C>A	c.(748-750)ggC>ggA	p.G250G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	250	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G250G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGTTGTTGTGGCCCGTTAGAG	0.507																																							uc004cfi.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(748-750)GGC>GGA		ficolin 1 precursor							195.0	200.0	199.0					9																	137801875		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801875G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.750C>A	9.37:g.137801875G>T							p.G250G	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	842	-		Myeloproliferative disorder(178;0.0333)	250			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.750C>A	CCDS6985.1																																																																																				0.507	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		40	328	1	0	1.23103e-26	0.003214	2.32948e-26	40	328				
FCN1	2219	broad.mit.edu	37	9	137809691	137809691	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137809691G>T	ENST00000371806.3	-	1	118	c.27C>A	c.(25-27)gcC>gcA	p.A9A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	9					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.A9A(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGAGCCCCCGGGCCATGGTGG	0.592																																							uc004cfi.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(25-27)GCC>GCA		ficolin 1 precursor							80.0	78.0	79.0					9																	137809691		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809691G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.27C>A	9.37:g.137809691G>T							p.A9A	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	119	-		Myeloproliferative disorder(178;0.0333)	9					Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.27C>A	CCDS6985.1																																																																																				0.592	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		14	84	1	0	1.5739e-10	0.004007	2.31324e-10	14	84				
KCNT1	57582	broad.mit.edu	37	9	138669205	138669205	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:138669205G>A	ENST00000263604.3	+	21	2314	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	KCNT1_ENST00000488444.2_Missense_Mutation_p.E772K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E791K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E746K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E770K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E750K|KCNT1_ENST00000298480.5_Missense_Mutation_p.E791K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E758K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	772					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E791K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAACAGCTATGAAGACGCCAA	0.612																																							uc011mdq.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2371-2373)GAA>AAA		potassium channel, subfamily T, member 1							105.0	95.0	98.0					9																	138669205		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669205G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2314G>A	9.37:g.138669205G>A	ENSP00000263604:p.Glu772Lys					KCNT1_uc011mdr.1_Missense_Mutation_p.E618K|KCNT1_uc010nbf.2_Missense_Mutation_p.E746K|KCNT1_uc004cgo.1_Missense_Mutation_p.E540K	p.E791K	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2445	+		Myeloproliferative disorder(178;0.0821)	791					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2371G>A		.	.	.	.	.	.	.	.	.	.	G	17.51	3.408611	0.62399	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	4.38	4.38	0.52667	.	0.062809	0.64402	U	0.000010	D	0.82407	0.5030	M	0.85099	2.735	0.58432	D	0.999999	P;P;P;P	0.49783	0.928;0.599;0.846;0.599	P;B;P;B	0.50708	0.648;0.284;0.557;0.284	D	0.83701	0.0182	10	0.33141	T	0.24	-47.8958	16.9486	0.86237	0.0:0.0:1.0:0.0	.	758;791;746;772	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	K	746;791;791;750;758;772;770;772	ENSP00000417851:E746K;ENSP00000298480:E791K;ENSP00000360822:E791K;ENSP00000263604:E772K	ENSP00000263604:E772K	E	+	1	0	KCNT1	137809026	1.000000	0.71417	0.714000	0.30535	0.639000	0.38242	9.594000	0.98254	1.976000	0.57569	0.561000	0.74099	GAA		0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		8	113	0	0	0	0.004482	0	8	113				
CCDC183	84960	broad.mit.edu	37	9	139694873	139694873	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139694873G>C	ENST00000338005.6	+	5	506	c.471G>C	c.(469-471)aaG>aaC	p.K157N	RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.K187N|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		157								p.K157N(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACATCGAGAAGACAATGATCA	0.627																																							uc004cjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)AAG>AAC		hypothetical protein LOC84960							43.0	50.0	47.0					9																	139694873		2049	4183	6232	SO:0001583	missense	84960							g.chr9:139694873G>C																												ENST00000338005.6:c.471G>C	9.37:g.139694873G>C	ENSP00000338013:p.Lys157Asn						p.K157N	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	5	519	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	157			Potential.		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.471G>C	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286475	0.80803	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.61510	0.1	4.19	4.19	0.49359	.	0.000000	0.43416	U	0.000576	T	0.70859	0.3272	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71889	-0.4456	10	0.48119	T	0.1	-28.372	12.0196	0.53336	0.0:0.0:1.0:0.0	.	157	Q5T5S1	K1984_HUMAN	N	157	ENSP00000338013:K157N	ENSP00000338013:K157N	K	+	3	2	KIAA1984	138814694	1.000000	0.71417	0.996000	0.52242	0.845000	0.48019	1.898000	0.39809	1.873000	0.54277	0.305000	0.20034	AAG		0.627	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			3	20	0	0	0	0.004672	0	3	20				
PTGDS	5730	broad.mit.edu	37	9	139873716	139873716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139873716C>A	ENST00000371625.3	+	3	370	c.296C>A	c.(295-297)gCg>gAg	p.A99E	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Missense_Mutation_p.A99E|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	99					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.A99E(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCAGCCCGCGGGGTCCCTC	0.687																																							uc004cke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)GCG>GAG		prostaglandin D2 synthase, brain							63.0	71.0	68.0					9																	139873716		2203	4299	6502	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873716C>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.296C>A	9.37:g.139873716C>A	ENSP00000360687:p.Ala99Glu					PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA	p.A99E	NM_000954	NP_000945	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	371	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	99					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.296C>A	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	17.18	3.323077	0.60634	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.81	-2.14	0.07123	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.960401	0.08544	N	0.930045	T	0.13030	0.0316	M	0.65320	2	0.09310	N	1	P	0.44195	0.828	P	0.50270	0.636	T	0.16305	-1.0407	10	0.72032	D	0.01	-9.6379	1.9671	0.03398	0.2482:0.3666:0.2414:0.1438	.	99	P41222	PTGDS_HUMAN	E	99	ENSP00000224167:A99E;ENSP00000392633:A99E;ENSP00000360687:A99E;ENSP00000360685:A99E	ENSP00000224167:A99E	A	+	2	0	PTGDS	138993537	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.019000	0.12546	-0.866000	0.04068	-1.579000	0.00862	GCG		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		14	130	1	0	1.49906e-05	0.00245	1.77827e-05	14	130				
ABCA2	20	broad.mit.edu	37	9	139906938	139906938	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139906938T>A	ENST00000371605.3	-	31	5330	c.5183A>T	c.(5182-5184)cAg>cTg	p.Q1728L	ABCA2_ENST00000265662.5_Splice_Site_p.Q1729L|ABCA2_ENST00000341511.6_Splice_Site_p.Q1729L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1728					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.Q1729L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCGCTCACCTGGGCAGCCCT	0.672																																							uc011mem.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5182-5184)CAG>CTG		ATP-binding cassette, sub-family A, member 2							45.0	51.0	49.0					9																	139906938		2021	4157	6178	SO:0001630	splice_region_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139906938T>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5184+1A>T	9.37:g.139906938T>A						ABCA2_uc011mel.1_Missense_Mutation_p.Q1729L|ABCA2_uc004ckl.1_Missense_Mutation_p.Q1659L|ABCA2_uc004ckm.1_Missense_Mutation_p.Q1759L|ABCA2_uc004ckn.1_RNA	p.Q1728L	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	31	5331	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1728					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.5183A>T		.	.	.	.	.	.	.	.	.	.	T	17.07	3.294291	0.60086	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87334	-2.24;-2.24;-2.24	4.32	4.32	0.51571	.	0.000000	0.64402	U	0.000009	T	0.80778	0.4688	N	0.12182	0.205	0.80722	D	1	P;P	0.43231	0.801;0.801	P;P	0.46510	0.519;0.519	D	0.84144	0.0419	10	0.87932	D	0	.	12.7974	0.57565	0.0:0.0:0.0:1.0	.	1728;1759	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	1729;1728;1759;1729	ENSP00000265662:Q1729L;ENSP00000360666:Q1728L;ENSP00000344155:Q1729L	ENSP00000265662:Q1729L	Q	-	2	0	ABCA2	139026759	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.204000	0.65180	1.811000	0.52892	0.260000	0.18958	CAG		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	Missense_Mutation	8	70	0	0	0	0.00308	0	8	70				
CACNA1B	774	broad.mit.edu	37	9	140811693	140811693	+	Splice_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:140811693A>T	ENST00000371372.1	+	6	921	c.776A>T	c.(775-777)gAt>gTt	p.D259V	CACNA1B_ENST00000371355.4_Splice_Site_p.D259V|CACNA1B_ENST00000277549.5_De_novo_Start_OutOfFrame|CACNA1B_ENST00000371357.1_Splice_Site_p.D259V|CACNA1B_ENST00000371363.1_Splice_Site_p.D259V|CACNA1B_ENST00000277551.2_Splice_Site_p.D259V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	259					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.D259V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTTGCAGATGCGGAGCCC	0.617																																							uc004cog.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(775-777)GAT>GTT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						64.0	71.0	68.0					9																	140811693		2012	4178	6190	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811693A>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.776-1A>T	9.37:g.140811693A>T							p.D259V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	921	+	all_cancers(76;0.166)		259			I.|Extracellular (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.776A>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	6.694	0.496694	0.12762	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96830	-4.13;-4.14;-4.13;-4.11;-4.12	4.86	4.86	0.63082	.	2.466080	0.01855	N	0.036219	D	0.95124	0.8420	L	0.48260	1.515	0.80722	D	1	P	0.45396	0.857	B	0.43701	0.428	D	0.87568	0.2476	9	.	.	.	.	7.7183	0.28717	0.8695:0.0:0.1305:0.0	.	259	B1AQK6	.	V	259	ENSP00000360423:D259V;ENSP00000277551:D259V;ENSP00000360414:D259V;ENSP00000360408:D259V;ENSP00000360406:D259V	.	D	+	2	0	CACNA1B	139931514	0.973000	0.33851	0.539000	0.28077	0.029000	0.11900	2.756000	0.47549	1.935000	0.56089	0.533000	0.62120	GAT		0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Missense_Mutation	11	89	0	0	0	0.001855	0	11	89				
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191									tubulin, beta pseudogene 5									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697																																							uc004com.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(7-9)TCT>TCC		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141070111T>C	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070111T>C						TUBBP5_uc010ncq.2_Silent_p.S117S	p.S3S							3	270	+									Silent	SNP	ENST00000503395.1	37	c.9T>C																																																																																					0.697	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		7	119	0	0	0	0.006214	0	7	119				
TUBBP5	643224	broad.mit.edu	37	9	141071325	141071325	+	RNA	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:141071325C>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.A315G(1)									ACGGCGGCTGCCATTTTCCAG	0.562																																							uc004com.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GCC>GGC		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071325C>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071325C>G						TUBBP5_uc010ncq.2_3'UTR	p.A243G							4	989	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.728C>G																																																																																					0.562	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		10	43	0	0	0	0.001855	0	10	43				
IL3RA	3563	broad.mit.edu	37	X	1471274	1471274	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:1471274G>C	ENST00000331035.4	+	6	840	c.491G>C	c.(490-492)gGg>gCg	p.G164A	IL3RA_ENST00000381469.2_Missense_Mutation_p.G86A	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	164					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.G164A(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACACGTATCGGGTGTCGTTTC	0.577																																							uc004cps.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(490-492)GGG>GCG		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						373.0	355.0	361.0					X																	1471274		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471274G>C	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.491G>C	X.37:g.1471274G>C	ENSP00000327890:p.Gly164Ala					IL3RA_uc011mhd.1_Missense_Mutation_p.G86A	p.G164A	NM_002183	NP_002174	P26951	IL3RA_HUMAN			6	840	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	164			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.491G>C	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331664	0.24167	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	T;T;T	0.57436	0.4;0.4;0.4	1.75	0.798	0.18660	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.365474	0.22349	U	0.061240	T	0.44912	0.1316	N	0.16266	0.395	0.09310	N	1	D;D	0.65815	0.982;0.995	P;P	0.61800	0.765;0.894	T	0.26258	-1.0108	10	0.42905	T	0.14	-7.0294	4.0399	0.09746	0.2542:0.0:0.7458:0.0	.	85;164	P26951-2;P26951	.;IL3RA_HUMAN	A	164;86;86	ENSP00000327890:G164A;ENSP00000414867:G86A;ENSP00000370878:G86A	ENSP00000327890:G164A	G	+	2	0	IL3RA	1431274	0.004000	0.15560	0.001000	0.08648	0.021000	0.10359	0.343000	0.19944	0.023000	0.15187	0.182000	0.17080	GGG		0.577	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			22	313	0	0	0	0.00278	0	22	313				
MXRA5	25878	broad.mit.edu	37	X	3228223	3228223	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:3228223G>T	ENST00000217939.6	-	7	8175	c.8021C>A	c.(8020-8022)cCc>cAc	p.P2674H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2674	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.P2674H(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)				CATGCCATTGGGGAGCGTCCA	0.602																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(8020-8022)CCC>CAC		adlican precursor							54.0	52.0	53.0					X																	3228223		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228223G>T	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.8021C>A	X.37:g.3228223G>T	ENSP00000217939:p.Pro2674His						p.P2674H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8178	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2674			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8021C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198631	0.38806	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63744	-0.06	4.47	3.58	0.41010	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40064	U	0.001199	T	0.76666	0.4019	M	0.73217	2.22	0.50813	D	0.999896	D	0.89917	1.0	D	0.97110	1.0	T	0.78130	-0.2324	10	0.72032	D	0.01	.	13.1057	0.59246	0.0:0.0:0.8383:0.1617	.	2674	Q9NR99	MXRA5_HUMAN	H	2674	ENSP00000217939:P2674H	ENSP00000217939:P2674H	P	-	2	0	MXRA5	3238223	1.000000	0.71417	0.345000	0.25642	0.008000	0.06430	8.005000	0.88553	0.683000	0.31428	0.597000	0.82753	CCC		0.602	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	63	1	0	1.33987e-11	0.008291	2.03305e-11	10	63				
MXRA5	25878	broad.mit.edu	37	X	3238801	3238801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:3238801C>A	ENST00000217939.6	-	5	5079	c.4925G>T	c.(4924-4926)tGg>tTg	p.W1642L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1642						extracellular vesicular exosome (GO:0070062)		p.W1642L(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)				TTTGTTGGTCCAGTGACGAGG	0.463																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4924-4926)TGG>TTG		adlican precursor							183.0	173.0	176.0					X																	3238801		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238801C>A	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.4925G>T	X.37:g.3238801C>A	ENSP00000217939:p.Trp1642Leu						p.W1642L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5082	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1642					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4925G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	1.037	-0.679920	0.03353	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61392	0.11	3.2	-3.41	0.04839	.	3.117010	0.01902	N	0.039263	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05750	-1.0866	10	0.19147	T	0.46	.	2.0886	0.03651	0.2561:0.4309:0.1069:0.206	.	1642	Q9NR99	MXRA5_HUMAN	L	1642	ENSP00000217939:W1642L	ENSP00000217939:W1642L	W	-	2	0	MXRA5	3248801	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.381000	0.07417	-1.221000	0.02591	-0.580000	0.04137	TGG		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	166	1	0	1.33986e-20	0.004656	2.42135e-20	22	166				
TLR8	51311	broad.mit.edu	37	X	12939284	12939284	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:12939284G>A	ENST00000218032.6	+	2	2212	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	TLR8_ENST00000311912.5_Missense_Mutation_p.D727N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	709					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|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 innate immune response (GO:0045089)|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-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.D727N(1)|p.D727Y(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TAGCCTATCTGACTTTACATC	0.433																																							uc004cve.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2125-2127)GAC>AAC		toll-like receptor 8 precursor							117.0	113.0	115.0					X																	12939284		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939284G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2125G>A	X.37:g.12939284G>A	ENSP00000218032:p.Asp709Asn					TLR8_uc004cvd.2_Missense_Mutation_p.D727N	p.D709N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2193	+			709			LRR 21.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2125G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.419101	0.00188	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.78364	-1.17;-1.17	5.82	-5.14	0.02875	.	1.983950	0.02986	N	0.146272	T	0.44726	0.1307	N	0.02357	-0.585	0.09310	N	1	B;B	0.28233	0.204;0.204	B;B	0.23419	0.046;0.046	T	0.53457	-0.8436	10	0.02654	T	1	.	5.4235	0.16413	0.3954:0.0937:0.4178:0.0932	.	709;727	Q9NR97;D1CS70	TLR8_HUMAN;.	N	709;727	ENSP00000218032:D709N;ENSP00000312082:D727N	ENSP00000218032:D709N	D	+	1	0	TLR8	12849205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.413000	0.21148	-0.911000	0.03843	-0.912000	0.02778	GAC		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		8	97	0	0	0	0.004482	0	8	97				
OFD1	8481	broad.mit.edu	37	X	13785314	13785314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:13785314C>T	ENST00000340096.6	+	20	2995	c.2668C>T	c.(2668-2670)Cga>Tga	p.R890*	OFD1_ENST00000380550.3_Nonsense_Mutation_p.R850*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Nonsense_Mutation_p.R750*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	890	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.R890*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGTGAAAGAACGAAGGCAGAG	0.363																																							uc004cvp.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2668-2670)CGA>TGA		oral-facial-digital syndrome 1							132.0	135.0	134.0					X																	13785314		2203	4300	6503	SO:0001587	stop_gained	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13785314C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2668C>T	X.37:g.13785314C>T	ENSP00000344314:p.Arg890*					OFD1_uc004cvr.3_Nonsense_Mutation_p.R420*|OFD1_uc011mil.1_Nonsense_Mutation_p.R457*|OFD1_uc004cvq.3_Nonsense_Mutation_p.R713*|OFD1_uc010nen.2_Nonsense_Mutation_p.R889*|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Nonsense_Mutation_p.R849*|OFD1_uc004cvv.3_Nonsense_Mutation_p.R849*	p.R890*	NM_003611	NP_003602	O75665	OFD1_HUMAN			20	3027	+			890			Mediates the interaction with SDCCAG8.|Potential.		B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	c.2668C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	45	11.346903	0.99549	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	.	.	.	5.74	3.92	0.45320	.	1.649160	0.03216	N	0.176876	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.0195	8.7663	0.34704	0.1568:0.5639:0.2793:0.0	.	.	.	.	X	850;890;750	.	ENSP00000344314:R890X	R	+	1	2	OFD1	13695235	0.518000	0.26234	0.017000	0.16124	0.920000	0.55202	1.817000	0.39002	0.537000	0.28751	0.494000	0.49563	CGA		0.363	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		12	100	0	0	0	0.000978	0	12	100				
FIGF	2277	broad.mit.edu	37	X	15376214	15376214	+	Missense_Mutation	SNP	G	G	T	rs201472376		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:15376214G>T	ENST00000297904.3	-	3	832	c.403C>A	c.(403-405)Cct>Act	p.P135T		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	135					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.P135S(1)|p.P135T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCACACAAGGGGGCTTGAAG	0.488																																							uc004cwt.1		NA																	2	Substitution - Missense(2)	p.P135S(1)	ovary(1)|lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(403-405)CCT>ACT		vascular endothelial growth factor D							263.0	212.0	230.0					X																	15376214		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15376214G>T	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.403C>A	X.37:g.15376214G>T	ENSP00000297904:p.Pro135Thr						p.P135T	NM_004469	NP_004460	O43915	VEGFD_HUMAN			3	912	-	Hepatocellular(33;0.183)		135					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.403C>A	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475448	0.84640	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	5.11	0.69529	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82965	-0.0195	9	0.87932	D	0	-34.6502	16.7771	0.85553	0.0:0.0:1.0:0.0	.	135	O43915	VEGFD_HUMAN	T	135	.	ENSP00000297904:P135T	P	-	1	0	FIGF	15286135	1.000000	0.71417	0.610000	0.28997	0.990000	0.78478	9.416000	0.97383	2.254000	0.74563	0.529000	0.55759	CCT		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		50	124	1	0	8.28887e-21	0.00361	1.50346e-20	50	124				
NHS	4810	broad.mit.edu	37	X	17744755	17744755	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:17744755G>T	ENST00000380060.3	+	6	2804	c.2466G>T	c.(2464-2466)agG>agT	p.R822S	NHS_ENST00000398097.3_Missense_Mutation_p.R666S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	843					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R822S(1)|p.R666S(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCTCTTTCAGGAAACCAAAGG	0.493																																							uc004cxx.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2464-2466)AGG>AGT		Nance-Horan syndrome protein isoform 1							120.0	115.0	117.0					X																	17744755		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744755G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2466G>T	X.37:g.17744755G>T	ENSP00000369400:p.Arg822Ser					NHS_uc011mix.1_Missense_Mutation_p.R843S|NHS_uc004cxy.2_Missense_Mutation_p.R666S|NHS_uc004cxz.2_Missense_Mutation_p.R645S|NHS_uc004cya.2_Missense_Mutation_p.R545S	p.R822S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2804	+	Hepatocellular(33;0.183)		822					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2466G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581035	0.28180	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.57436	0.4;0.43	5.93	3.1	0.35709	.	0.085502	0.85682	D	0.000000	T	0.43344	0.1243	L	0.57536	1.79	0.43517	D	0.995786	P;P;P;P	0.46142	0.873;0.787;0.787;0.571	B;B;B;B	0.36666	0.23;0.23;0.23;0.121	T	0.26052	-1.0114	10	0.45353	T	0.12	-16.9482	9.4984	0.39001	0.2438:0.0:0.7562:0.0	.	843;664;666;822	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	822;666;664	ENSP00000369400:R822S;ENSP00000381170:R666S	ENSP00000369397:R664S	R	+	3	2	NHS	17654676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.375000	0.34295	0.207000	0.20607	0.538000	0.68166	AGG		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		35	104	1	0	7.61165e-28	0.003755	1.45012e-27	35	104				
NHS	4810	broad.mit.edu	37	X	17745107	17745107	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:17745107A>G	ENST00000380060.3	+	6	3156	c.2818A>G	c.(2818-2820)Aga>Gga	p.R940G	NHS_ENST00000398097.3_Missense_Mutation_p.R784G	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	961					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R784G(1)|p.R940G(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGATCCTTATAGATCTCTATC	0.418																																							uc004cxx.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2818-2820)AGA>GGA		Nance-Horan syndrome protein isoform 1							123.0	118.0	120.0					X																	17745107		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745107A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2818A>G	X.37:g.17745107A>G	ENSP00000369400:p.Arg940Gly					NHS_uc011mix.1_Missense_Mutation_p.R961G|NHS_uc004cxy.2_Missense_Mutation_p.R784G|NHS_uc004cxz.2_Missense_Mutation_p.R763G|NHS_uc004cya.2_Missense_Mutation_p.R663G	p.R940G	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	3156	+	Hepatocellular(33;0.183)		940					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2818A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986230	0.35036	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49720	0.77;0.77	5.93	2.04	0.26737	.	0.042330	0.85682	D	0.000000	T	0.56615	0.1997	L	0.43152	1.355	0.49483	D	0.999795	D;D;D;D	0.89917	0.993;0.999;0.999;1.0	D;D;D;D	0.83275	0.91;0.943;0.943;0.996	T	0.44390	-0.9331	10	0.24483	T	0.36	-19.1619	12.981	0.58564	0.6045:0.3955:0.0:0.0	.	961;782;784;940	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	G	940;784;782	ENSP00000369400:R940G;ENSP00000381170:R784G	ENSP00000369397:R782G	R	+	1	2	NHS	17655028	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	2.513000	0.45494	0.003000	0.14656	0.437000	0.28790	AGA		0.418	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		16	125	0	0	0	0.004007	0	16	125				
MAP3K15	389840	broad.mit.edu	37	X	19389161	19389161	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:19389161G>A	ENST00000338883.4	-	24	3315	c.3316C>T	c.(3316-3318)Cac>Tac	p.H1106Y	MAP3K15_ENST00000469203.2_Missense_Mutation_p.H938Y|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H541Y	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1106							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.H581Y(1)|p.H1153Y(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTAATTAAGTGGTTCCTCaaa	0.443																																							uc004czk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1741-1743)CAC>TAC		mitogen-activated protein kinase kinase kinase							38.0	38.0	38.0					X																	19389161		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389161G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3316C>T	X.37:g.19389161G>A	ENSP00000345629:p.His1106Tyr					MAP3K15_uc004czj.1_Missense_Mutation_p.H541Y|MAP3K15_uc004czi.1_Missense_Mutation_p.H40Y	p.H581Y	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			25	3378	-	Hepatocellular(33;0.183)		1106					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1741C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.990785	0.74589	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.75050	-0.85;-0.9;-0.84	5.25	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.86178	2.8	0.58432	D	0.999999	D;P	0.56746	0.977;0.85	P;B	0.58520	0.84;0.332	D	0.86775	0.1975	10	0.72032	D	0.01	.	13.2762	0.60188	0.079:0.0:0.921:0.0	.	581;1106	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Y	1106;541;938	ENSP00000345629:H1106Y;ENSP00000352093:H541Y;ENSP00000428356:H938Y	ENSP00000345629:H1106Y	H	-	1	0	MAP3K15	19299082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.327000	0.72910	1.114000	0.41781	0.556000	0.70494	CAC		0.443	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		14	37	0	0	0	0.00245	0	14	37				
MAP7D2	256714	broad.mit.edu	37	X	20062499	20062499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:20062499C>A	ENST00000379651.3	-	6	757	c.739G>T	c.(739-741)Gga>Tga	p.G247*	MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.G195*|MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.G288*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.G202*|MAP7D2_ENST00000543767.1_Nonsense_Mutation_p.G132*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	247					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.G288*(1)|p.G247*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCCTCTCCTCCTGAAAGGGCT	0.488																																							uc004czr.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|breast(1)	3						c.(739-741)GGA>TGA		MAP7 domain containing 2							148.0	136.0	140.0					X																	20062499		2203	4300	6503	SO:0001587	stop_gained	256714							g.chrX:20062499C>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.739G>T	X.37:g.20062499C>A	ENSP00000368972:p.Gly247*					MAP7D2_uc004czq.1_Nonsense_Mutation_p.G132*|MAP7D2_uc011mji.1_Nonsense_Mutation_p.G195*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.G288*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.G202*	p.G247*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			6	758	-			247					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Nonsense_Mutation	SNP	ENST00000379651.3	37	c.739G>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373860	0.61624	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	.	.	.	4.58	3.63	0.41609	.	0.407871	0.22997	N	0.053121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.4044	7.8852	0.29646	0.2684:0.7316:0.0:0.0	.	.	.	.	X	247;288;132;202;195	.	ENSP00000368964:G288X	G	-	1	0	MAP7D2	19972420	0.911000	0.30947	0.869000	0.34112	0.115000	0.19883	1.669000	0.37492	2.111000	0.64477	0.600000	0.82982	GGA		0.488	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		33	73	1	0	4.3181e-19	0.002836	7.70446e-19	33	73				
PHEX	5251	broad.mit.edu	37	X	22237202	22237202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:22237202C>A	ENST00000379374.4	+	17	2315	c.1750C>A	c.(1750-1752)Cat>Aat	p.H584N	PHEX_ENST00000537599.1_Missense_Mutation_p.H584N|PHEX_ENST00000418858.3_Missense_Mutation_p.H287N|PHEX_ENST00000535894.1_Missense_Mutation_p.H487N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	584					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H584N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAATTTACACATGGATTTGA	0.318																																							uc004dah.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1750-1752)CAT>AAT		phosphate-regulating neutral endopeptidase							153.0	134.0	141.0					X																	22237202		2203	4299	6502	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22237202C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1750C>A	X.37:g.22237202C>A	ENSP00000368682:p.His584Asn					PHEX_uc011mjr.1_Missense_Mutation_p.H584N|PHEX_uc011mjs.1_Missense_Mutation_p.H487N	p.H584N	NM_000444	NP_000435	P78562	PHEX_HUMAN			17	1953	+			584			Extracellular (Potential).	Zinc; catalytic (By similarity).	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1750C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439533	0.83885	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.99220	-5.58;-5.58;-5.58;-5.58	5.86	5.86	0.93980	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97647	1.0152	10	0.87932	D	0	.	19.1452	0.93463	0.0:1.0:0.0:0.0	.	584;584	F5GXU4;P78562	.;PHEX_HUMAN	N	584;584;487;287	ENSP00000368682:H584N;ENSP00000440362:H584N;ENSP00000439418:H487N;ENSP00000443531:H287N	ENSP00000368682:H584N	H	+	1	0	PHEX	22147123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.911000	0.75746	2.471000	0.83476	0.600000	0.82982	CAT		0.318	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		24	45	1	0	8.58068e-18	0.007291	1.49177e-17	24	45				
MAGEB6	158809	broad.mit.edu	37	X	26213127	26213127	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:26213127A>T	ENST00000379034.1	+	2	1313	c.1164A>T	c.(1162-1164)ccA>ccT	p.P388P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	388	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P388P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTTTATACCCACATCTGTATG	0.507																																							uc004dbr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1162-1164)CCA>CCT		melanoma antigen family B, 6							121.0	111.0	114.0					X																	26213127		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26213127A>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1164A>T	X.37:g.26213127A>T						MAGEB6_uc010ngc.1_Silent_p.P168P	p.P388P	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1313	+			388			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.1164A>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		37	71	0	0	0	0.005524	0	37	71				
DMD	1756	broad.mit.edu	37	X	32398633	32398633	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:32398633C>A	ENST00000357033.4	-	34	5045	c.4839G>T	c.(4837-4839)tgG>tgT	p.W1613C	DMD_ENST00000378677.2_Missense_Mutation_p.W1609C	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	1613	Interaction with SYNM. {ECO:0000250}.				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.W272C(1)|p.W1608C(1)|p.W1609C(1)|p.W1613C(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)				TTACCTTTCCCCAGGCAACTT	0.358																																							uc004dda.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4837-4839)TGG>TGT		dystrophin Dp427m isoform							128.0	115.0	120.0					X																	32398633		2202	4299	6501	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:32398633C>A	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.4839G>T	X.37:g.32398633C>A	ENSP00000354923:p.Trp1613Cys					DMD_uc004dcw.2_Missense_Mutation_p.W269C|DMD_uc004dcx.2_Missense_Mutation_p.W272C|DMD_uc004dcz.2_Missense_Mutation_p.W1490C|DMD_uc004dcy.1_Missense_Mutation_p.W1609C|DMD_uc004ddb.1_Missense_Mutation_p.W1605C|DMD_uc010ngo.1_Intron	p.W1613C	NM_004006	NP_003997	P11532	DMD_HUMAN			34	5083	-		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)	1613			Spectrin 11.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4839G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982239	0.74474	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50001	0.76;0.76	5.21	5.21	0.72293	.	0.000000	0.32578	U	0.005904	T	0.68997	0.3062	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.71928	-0.4444	10	0.56958	D	0.05	.	17.8733	0.88817	0.0:1.0:0.0:0.0	.	1605;1613;1609;272;269	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	C	1605;272;269;1609;1613;1613;1490	ENSP00000367948:W1609C;ENSP00000354923:W1613C	ENSP00000354923:W1613C	W	-	3	0	DMD	32308554	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.815000	0.86186	2.153000	0.67306	0.534000	0.68092	TGG		0.358	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	65	1	0	2.4624e-09	0.008871	3.43201e-09	16	65				
DMD	1756	broad.mit.edu	37	X	32486670	32486670	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:32486670A>T	ENST00000357033.4	-	23	3313	c.3107T>A	c.(3106-3108)cTg>cAg	p.L1036Q	DMD_ENST00000378677.2_Missense_Mutation_p.L1032Q	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	1036					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.L1031Q(1)|p.L1036Q(1)|p.L1032Q(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)				ATGCTCAACCAGCTGGGAGGA	0.388																																							uc004dda.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3106-3108)CTG>CAG		dystrophin Dp427m isoform							62.0	55.0	57.0					X																	32486670		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:32486670A>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.3107T>A	X.37:g.32486670A>T	ENSP00000354923:p.Leu1036Gln					DMD_uc004dcz.2_Missense_Mutation_p.L913Q|DMD_uc004dcy.1_Missense_Mutation_p.L1032Q|DMD_uc004ddb.1_Missense_Mutation_p.L1028Q|DMD_uc010ngo.1_Intron	p.L1036Q	NM_004006	NP_003997	P11532	DMD_HUMAN			23	3351	-		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)	1036			Spectrin 6.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3107T>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343508	0.41498	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53640	0.61;0.61	5.12	5.12	0.69794	.	0.000000	0.27429	U	0.019406	T	0.57917	0.2086	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.77557	0.948;0.99;0.969	T	0.61744	-0.7000	10	0.72032	D	0.01	.	14.1547	0.65410	1.0:0.0:0.0:0.0	.	1028;1036;1032	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1028;1032;1036;1036;913	ENSP00000367948:L1032Q;ENSP00000354923:L1036Q	ENSP00000354923:L1036Q	L	-	2	0	DMD	32396591	1.000000	0.71417	0.197000	0.23402	0.011000	0.07611	7.113000	0.77095	1.789000	0.52484	0.437000	0.28790	CTG		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	12	0	0	0	0.000602	0	4	12				
CHDC2	286464	broad.mit.edu	37	X	36122805	36122805	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:36122805A>T	ENST00000313548.4	+	8	1228	c.1042A>T	c.(1042-1044)Aaa>Taa	p.K348*		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	348	CH.					integral component of membrane (GO:0016021)		p.K348*(1)									AAACTGTCACAAAGGTGAGAA	0.338																																							uc004ddk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1042-1044)AAA>TAA		hypothetical protein LOC286464							48.0	43.0	45.0					X																	36122805		2201	4300	6501	SO:0001587	stop_gained	286464					integral to membrane		g.chrX:36122805A>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1042A>T	X.37:g.36122805A>T	ENSP00000324767:p.Lys348*						p.K348*	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			8	1228	+			348						Nonsense_Mutation	SNP	ENST00000313548.4	37	c.1042A>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	35	5.482052	0.96307	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.53	3.12	0.35913	.	1.252440	0.05638	N	0.582959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5219	7.5545	0.27817	0.8192:0.0:0.1808:0.0	.	.	.	.	X	348	.	ENSP00000324767:K348X	K	+	1	0	CXorf59	36032726	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.534000	0.23098	0.249000	0.21456	0.486000	0.48141	AAA		0.338	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		10	17	0	0	0	0.006214	0	10	17				
FAM47C	442444	broad.mit.edu	37	X	37028190	37028190	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:37028190T>C	ENST00000358047.3	+	1	1759	c.1707T>C	c.(1705-1707)agT>agC	p.S569S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	569								p.S569S(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGATGTACAGTCTCCGCCCGG	0.642																																							uc004ddl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1705-1707)AGT>AGC		hypothetical protein LOC442444							49.0	55.0	53.0					X																	37028190		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028190T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1707T>C	X.37:g.37028190T>C							p.S569S	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1721	+			569					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1707T>C	CCDS35227.1																																																																																				0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	65	0	0	0	0.001855	0	12	65				
FAM47C	442444	broad.mit.edu	37	X	37029325	37029325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:37029325G>T	ENST00000358047.3	+	1	2894	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	948								p.G948W(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTAAGTTGGGGAAAAAGCT	0.458																																							uc004ddl.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(2842-2844)GGG>TGG		hypothetical protein LOC442444							110.0	106.0	107.0					X																	37029325		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029325G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2842G>T	X.37:g.37029325G>T	ENSP00000367913:p.Gly948Trp						p.G948W	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2856	+			948					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2842G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.907506	0.00057	.	.	ENSG00000198173	ENST00000358047	T	0.14640	2.49	0.502	-1.0	0.10196	.	.	.	.	.	T	0.03095	0.0091	N	0.02286	-0.61	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.32561	-0.9902	8	0.02654	T	1	.	.	.	.	.	948	Q5HY64	FA47C_HUMAN	W	948	ENSP00000367913:G948W	ENSP00000367913:G948W	G	+	1	0	FAM47C	36939246	0.242000	0.23868	0.004000	0.12327	0.001000	0.01503	0.147000	0.16202	-2.109000	0.00838	-2.215000	0.00298	GGG		0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		15	117	1	0	1.33834e-09	0.007413	1.87596e-09	15	117				
GPR82	27197	broad.mit.edu	37	X	41586498	41586498	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:41586498C>T	ENST00000302548.4	+	3	459	c.219C>T	c.(217-219)atC>atT	p.I73I	CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I73I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCATGAGTATCTATTTCCTGA	0.393																																							uc004dfs.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(217-219)ATC>ATT		G protein-coupled receptor 82							100.0	79.0	86.0					X																	41586498		2203	4300	6503	SO:0001819	synonymous_variant	27197					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:41586498C>T	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.219C>T	X.37:g.41586498C>T						CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Silent_p.I73I|GPR82_uc004dfu.1_RNA	p.I73I	NM_080817	NP_543007	Q96P67	GPR82_HUMAN			3	459	+			73			Helical; Name=2; (Potential).		Q5VT13	Silent	SNP	ENST00000302548.4	37	c.219C>T	CCDS14259.1																																																																																				0.393	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		10	48	0	0	0	0.006214	0	10	48				
DUSP21	63904	broad.mit.edu	37	X	44703497	44703497	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:44703497A>G	ENST00000339042.4	+	1	249	c.119A>G	c.(118-120)aAa>aGa	p.K40R		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	40	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K40R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCCAACGACAAACTCCTTCTG	0.502																																							uc004dgd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(118-120)AAA>AGA		dual specificity phosphatase 21							140.0	107.0	118.0					X																	44703497		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703497A>G	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.119A>G	X.37:g.44703497A>G	ENSP00000343244:p.Lys40Arg						p.K40R	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	249	+			40			Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.119A>G	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	a	6.075	0.382226	0.11524	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	T	0.59906	0.23	3.82	2.66	0.31614	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.330984	0.34700	N	0.003753	T	0.32224	0.0822	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.20767	0.031	T	0.13442	-1.0509	10	0.14252	T	0.57	.	4.7924	0.13256	0.7426:0.0:0.2573:0.0	.	40	Q9H596	DUS21_HUMAN	R	40	ENSP00000343244:K40R	ENSP00000343244:K40R	K	+	2	0	DUSP21	44588441	0.603000	0.26924	0.001000	0.08648	0.012000	0.07955	1.287000	0.33284	0.648000	0.30732	0.483000	0.47432	AAA		0.502	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		26	54	0	0	0	0.004656	0	26	54				
CXorf36	79742	broad.mit.edu	37	X	45013396	45013397	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:45013396_45013397GG>TT	ENST00000398000.2	-	4	793_794	c.719_720CC>AA	c.(718-720)tCC>tAA	p.S240*	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	240						extracellular region (GO:0005576)		p.S240*(1)|p.S240S(1)		endometrium(1)|large_intestine(2)|lung(4)	7						ATCTGCCACAGGAGCCCAGGTA	0.584																																							uc004dgg.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	lung(1)	1						c.(718-720)TCC>TAA		hypothetical protein LOC79742 isoform 1																																				SO:0001587	stop_gained	79742					extracellular region		g.chrX:45013396_45013397GG>TT	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.719_720delinsTT	X.37:g.45013396_45013397delinsTT	ENSP00000381086:p.Ser240*						p.S240*	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			4	794_795	-			240					A8MUU5|B2RPN7|Q6UWJ5	Nonsense_Mutation	DNP	ENST00000398000.2	37	c.719_720CC>AA	CCDS48096.1																																																																																				0.584	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		14	21	0	0	0	0.004672	0	14	21				
CXorf36	79742	broad.mit.edu	37	X	45051245	45051245	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:45051245C>T	ENST00000398000.2	-	2	323	c.249G>A	c.(247-249)ctG>ctA	p.L83L	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.L83L|RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000477281.1_5'Flank	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	83						extracellular region (GO:0005576)		p.L83L(2)		endometrium(1)|large_intestine(2)|lung(4)	7						GGTGGGAAGCCAGCCAGTTGT	0.522																																							uc004dgg.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(247-249)CTG>CTA		hypothetical protein LOC79742 isoform 1							58.0	58.0	58.0					X																	45051245		2203	4300	6503	SO:0001819	synonymous_variant	79742					extracellular region		g.chrX:45051245C>T	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.249G>A	X.37:g.45051245C>T						CXorf36_uc004dgi.3_Silent_p.L83L	p.L83L	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			2	324	-			83					A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	c.249G>A	CCDS48096.1																																																																																				0.522	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		9	25	0	0	0	0.006214	0	9	25				
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:49143232G>C	ENST00000055335.6	+	4	2096	c.2080G>C	c.(2080-2082)Gcc>Ccc	p.A694P	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348P|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348P|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348P|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365P	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694					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.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617																																							uc004dnh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2080-2082)GCC>CCC		protein phosphatase 1, regulatory (inhibitor)							46.0	28.0	34.0					X																	49143232		2203	4299	6502	SO:0001583	missense	89801					integral to membrane		g.chrX:49143232G>C		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.2080G>C	X.37:g.49143232G>C	ENSP00000055335:p.Ala694Pro					PPP1R3F_uc011mnd.1_Missense_Mutation_p.A365P|PPP1R3F_uc004dni.2_Missense_Mutation_p.A348P|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A348P	p.A694P	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	2096	+	Ovarian(276;0.236)		694			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.2080G>C	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	2.313	-0.357438	0.05138	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59364	0.69;0.7;0.27;0.69;0.69	4.84	-0.112	0.13572	.	1.031340	0.07717	N	0.942924	T	0.33673	0.0871	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.10450	0.005;0.005;0.001	T	0.19031	-1.0318	10	0.15952	T	0.53	0.9026	4.0116	0.09624	0.4473:0.1889:0.3638:0.0	.	365;379;694	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	P	348;365;694;348;348	ENSP00000420687:A348P;ENSP00000415548:A365P;ENSP00000055335:A694P;ENSP00000417535:A348P;ENSP00000365359:A348P	ENSP00000055335:A694P	A	+	1	0	PPP1R3F	49030176	0.000000	0.05858	0.001000	0.08648	0.175000	0.22909	-0.727000	0.04931	-0.068000	0.12953	0.513000	0.50165	GCC		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		6	9	0	0	0	0.001168	0	6	9				
TSPYL2	64061	broad.mit.edu	37	X	53111967	53111967	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:53111967G>T	ENST00000375442.4	+	1	419	c.287G>T	c.(286-288)gGc>gTc	p.G96V		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	96					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.G96V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAGTGTCCCGGCTGGGATTCT	0.701																																							uc004drw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GGC>GTC		TSPY-like 2							9.0	11.0	10.0					X																	53111967		2181	4261	6442	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:53111967G>T	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.287G>T	X.37:g.53111967G>T	ENSP00000364591:p.Gly96Val					TSPYL2_uc004drv.2_Missense_Mutation_p.G96V|TSPYL2_uc004drx.1_5'Flank	p.G96V	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			1	419	+			96					O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	c.287G>T	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671570	0.29693	.	.	ENSG00000184205	ENST00000375442	T	0.64803	-0.12	3.38	-0.727	0.11166	.	0.919513	0.08993	N	0.864079	T	0.54046	0.1834	L	0.54323	1.7	0.23546	N	0.997446	P;P	0.48911	0.917;0.917	B;B	0.41860	0.368;0.368	T	0.48833	-0.9000	10	0.87932	D	0	-12.5415	6.4435	0.21863	0.5985:0.0:0.4015:0.0	.	96;96	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	V	96	ENSP00000364591:G96V	ENSP00000364591:G96V	G	+	2	0	TSPYL2	53128692	0.316000	0.24580	0.232000	0.24009	0.445000	0.32107	0.048000	0.14078	-0.304000	0.08843	-0.415000	0.06103	GGC		0.701	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		4	4	1	0	0.00909568	0.009096	0.00951132	4	4				
HUWE1	10075	broad.mit.edu	37	X	53574724	53574724	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:53574724C>A	ENST00000342160.3	-	67	11003	c.10546G>T	c.(10546-10548)Gcc>Tcc	p.A3516S	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3516S|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3516	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.A3516S(1)|p.A3406S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAACCAGGGCTGGAGCAGAA	0.592																																							uc004dsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10546-10548)GCC>TCC		HECT, UBA and WWE domain containing 1							87.0	67.0	74.0					X																	53574724		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574724C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10546G>T	X.37:g.53574724C>A	ENSP00000340648:p.Ala3516Ser					HUWE1_uc004dsn.2_Missense_Mutation_p.A2324S	p.A3516S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			68	10948	-			3516			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10546G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.111|9.111	1.006501|1.006501	0.19199|0.19199	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.35973|.	1.28;1.28|.	5.09|5.09	3.3|3.3	0.37823|0.37823	.|.	1.666090|.	0.03254|.	N|.	0.182244|.	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.02011|0.02011	-0.69|-0.69	0.28155|0.28155	N|N	0.929211|0.929211	B;B|.	0.13145|.	0.0;0.007|.	B;B|.	0.12156|.	0.001;0.007|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.08381|.	T|.	0.77|.	.|.	6.5815|6.5815	0.22596|0.22596	0.0:0.7212:0.1773:0.1015|0.0:0.7212:0.1773:0.1015	.|.	3516;3500|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	S|I	3516|2549;353	ENSP00000340648:A3516S;ENSP00000262854:A3516S|.	ENSP00000262854:A3516S|.	A|S	-|-	1|2	0|0	HUWE1|HUWE1	53591449|53591449	0.576000|0.576000	0.26700|0.26700	0.996000|0.996000	0.52242|0.52242	0.981000|0.981000	0.71138|0.71138	0.495000|0.495000	0.22483|0.22483	0.490000|0.490000	0.27771|0.27771	0.502000|0.502000	0.49764|0.49764	GCC|AGC		0.592	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	10	1	0	8.12818e-05	0.001984	9.2732e-05	4	10				
MAGEH1	28986	broad.mit.edu	37	X	55479419	55479419	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:55479419G>C	ENST00000342972.1	+	1	882	c.612G>C	c.(610-612)gaG>gaC	p.E204D	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	204					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.E204D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						ATGATGCAGAGGTTGAGGCTA	0.493																																							uc004dum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(610-612)GAG>GAC		melanoma antigen, family H, 1 protein							89.0	83.0	85.0					X																	55479419		2203	4300	6503	SO:0001583	missense	28986				apoptosis			g.chrX:55479419G>C	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.612G>C	X.37:g.55479419G>C	ENSP00000343706:p.Glu204Asp						p.E204D	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	882	+			204					B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.612G>C	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	5.669	0.308110	0.10733	.	.	ENSG00000187601	ENST00000342972	T	0.16324	2.35	3.52	-3.14	0.05250	.	0.000000	0.34676	N	0.003768	T	0.15305	0.0369	N	0.08118	0	0.09310	N	0.999998	D	0.55800	0.973	D	0.64506	0.926	T	0.20605	-1.0270	10	0.52906	T	0.07	-3.7064	10.0554	0.42241	0.2609:0.0:0.7391:0.0	.	204	Q9H213	MAGH1_HUMAN	D	204	ENSP00000343706:E204D	ENSP00000343706:E204D	E	+	3	2	MAGEH1	55496144	0.998000	0.40836	0.378000	0.26068	0.039000	0.13416	0.017000	0.13399	-0.803000	0.04415	-0.397000	0.06425	GAG		0.493	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		22	54	0	0	0	0.003954	0	22	54				
ASB12	142689	broad.mit.edu	37	X	63445161	63445161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:63445161C>A	ENST00000396130.2	-	1	342	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	ASB12_ENST00000362002.2_Missense_Mutation_p.V124L|MTMR8_ENST00000453546.1_Missense_Mutation_p.V499L			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	115					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.V124L(1)|p.V115L(1)|p.V499L(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TCCAAAAGCACACGTACACAG	0.537																																							uc011mou.1		NA																	5	Substitution - Missense(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1495-1497)GTG>TTG		myotubularin related protein 8							108.0	64.0	79.0					X																	63445161		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445161C>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.343G>T	X.37:g.63445161C>A	ENSP00000379435:p.Val115Leu					ASB12_uc004dvp.1_Missense_Mutation_p.V115L|ASB12_uc004dvq.1_Missense_Mutation_p.V124L|ASB12_uc004dvr.1_Missense_Mutation_p.V124L	p.V499L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1563	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1495G>T		.	.	.	.	.	.	.	.	.	.	C	12.47	1.947682	0.34377	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.60424	0.19;0.19;0.19	4.0	3.12	0.35913	Ankyrin repeat-containing domain (4);	0.480661	0.22507	N	0.059159	T	0.28896	0.0717	N	0.10707	0.03	0.09310	N	0.999992	B;B	0.26547	0.152;0.003	B;B	0.22880	0.042;0.004	T	0.25641	-1.0126	10	0.02654	T	1	-11.0751	9.3911	0.38374	0.0:0.8866:0.0:0.1134	.	499;115	B4DQL0;Q8WXK4	.;ASB12_HUMAN	L	124;115;124;499	ENSP00000355195:V124L;ENSP00000379435:V115L;ENSP00000394003:V499L	ENSP00000354626:V124L	V	-	1	0	ASB12;MTMR8	63361886	0.081000	0.21417	0.998000	0.56505	0.968000	0.65278	1.613000	0.36900	0.810000	0.34279	0.468000	0.43344	GTG		0.537	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	21	1	0	1.5842e-08	0.001855	2.15163e-08	10	21				
MAGEE2	139599	broad.mit.edu	37	X	75003725	75003725	+	Missense_Mutation	SNP	C	C	T	rs150866998	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:75003725C>T	ENST00000373359.2	-	1	1354	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	388	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E388K(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTGCTCTTCCTCTGATTCT	0.463																																							uc004ecj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1162-1164)GAA>AAA		melanoma antigen family E, 2		C	LYS/GLU	1,3834		0,1,0,1631,571	130.0	106.0	114.0		1162	2.5	0.9	X	dbSNP_134	114	7,6721		0,5,2,2423,1870	yes	missense	MAGEE2	NM_138703.4	56	0,6,2,4054,2441	TT,TC,T,CC,C		0.104,0.0261,0.0757	probably-damaging	388/524	75003725	8,10555	2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003725C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1162G>A	X.37:g.75003725C>T	ENSP00000362457:p.Glu388Lys						p.E388K	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1347	-			388			MAGE 2.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1162G>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840081	0.32513	2.61E-4	0.00104	ENSG00000186675	ENST00000373359	T	0.04551	3.6	2.5	2.5	0.30297	.	.	.	.	.	T	0.11537	0.0281	L	0.43923	1.385	0.27760	N	0.94387	D	0.69078	0.997	D	0.77004	0.989	T	0.15378	-1.0439	9	0.28530	T	0.3	.	7.7085	0.28663	0.0:1.0:0.0:0.0	.	388	Q8TD90	MAGE2_HUMAN	K	388	ENSP00000362457:E388K	ENSP00000362457:E388K	E	-	1	0	MAGEE2	74920450	1.000000	0.71417	0.910000	0.35882	0.380000	0.30137	2.078000	0.41567	1.521000	0.48983	0.422000	0.28245	GAA		0.463	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		8	136	0	0	0	0.00308	0	8	136				
TBX22	50945	broad.mit.edu	37	X	79286474	79286474	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:79286474G>T	ENST00000373294.5	+	8	1455	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I	TBX22_ENST00000373296.3_Missense_Mutation_p.R476I|TBX22_ENST00000442340.1_Missense_Mutation_p.R356I|TBX22_ENST00000373291.1_Missense_Mutation_p.R356I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	476					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R476I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GACTTTTATAGATACAATTTC	0.373																																							uc010nmg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1426-1428)AGA>ATA		T-box 22 isoform 1							92.0	83.0	86.0					X																	79286474		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286474G>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1427G>T	X.37:g.79286474G>T	ENSP00000362390:p.Arg476Ile					TBX22_uc004edi.1_Missense_Mutation_p.R356I|TBX22_uc004edj.1_Missense_Mutation_p.R476I	p.R476I	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1561	+			476					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1427G>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116539	0.37339	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87334	-2.24;-1.94;-2.24;-1.94	3.96	3.09	0.35607	.	0.684610	0.12628	N	0.452432	D	0.89469	0.6724	L	0.57536	1.79	0.51482	D	0.999923	D	0.67145	0.996	P	0.57548	0.823	D	0.86669	0.1909	10	0.72032	D	0.01	.	9.6158	0.39690	0.1082:0.0:0.8918:0.0	.	476	Q9Y458	TBX22_HUMAN	I	476;356;476;356	ENSP00000362393:R476I;ENSP00000396394:R356I;ENSP00000362390:R476I;ENSP00000362388:R356I	ENSP00000362388:R356I	R	+	2	0	TBX22	79173130	1.000000	0.71417	0.523000	0.27875	0.043000	0.13939	4.004000	0.57068	0.689000	0.31550	0.513000	0.50165	AGA		0.373	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		16	35	1	0	3.41278e-10	0.00499	4.93125e-10	16	35				
FAM46D	169966	broad.mit.edu	37	X	79698553	79698553	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:79698553G>T	ENST00000308293.5	+	3	754	c.515G>T	c.(514-516)aGt>aTt	p.S172I	FAM46D_ENST00000538312.1_Missense_Mutation_p.S172I	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	172								p.S172I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTTGAATTTAGTGTAGATTCC	0.373																																							uc004edl.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(514-516)AGT>ATT		hypothetical protein LOC169966							75.0	72.0	73.0					X																	79698553		2202	4299	6501	SO:0001583	missense	169966							g.chrX:79698553G>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.515G>T	X.37:g.79698553G>T	ENSP00000308575:p.Ser172Ile					FAM46D_uc004edm.1_Missense_Mutation_p.S172I	p.S172I	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	849	+			172					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.515G>T	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747127	0.69418	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.36699	1.24;1.24	4.8	4.8	0.61643	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.88310	2.945	0.80722	D	1	D	0.58620	0.983	P	0.62298	0.9	T	0.72673	-0.4222	10	0.87932	D	0	-15.5758	15.4963	0.75653	0.0:0.0:1.0:0.0	.	172	Q8NEK8	FA46D_HUMAN	I	172	ENSP00000443410:S172I;ENSP00000308575:S172I	ENSP00000308575:S172I	S	+	2	0	FAM46D	79585209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.294000	0.96088	2.214000	0.71695	0.594000	0.82650	AGT		0.373	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		16	45	1	0	1.5739e-10	0.004007	2.31324e-10	16	45				
PCDH11X	27328	broad.mit.edu	37	X	91134268	91134268	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:91134268G>T	ENST00000373094.1	+	2	3874	c.3029G>T	c.(3028-3030)aGa>aTa	p.R1010I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R1010I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1010					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1010I(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACACACCAGACCGGTAGGT	0.398																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	6	Substitution - Missense(6)		lung(6)	large_intestine(2)	2						c.(3028-3030)AGA>ATA		protocadherin 11 X-linked isoform c							123.0	103.0	110.0					X																	91134268		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134268G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3029G>T	X.37:g.91134268G>T	ENSP00000362186:p.Arg1010Ile					PCDH11X_uc004efl.1_Missense_Mutation_p.R1010I|PCDH11X_uc004efo.1_Missense_Mutation_p.R1010I|PCDH11X_uc010nmv.1_Missense_Mutation_p.R1010I|PCDH11X_uc004efm.1_Missense_Mutation_p.R1010I|PCDH11X_uc004efn.1_Missense_Mutation_p.R1010I|PCDH11X_uc004efh.1_Missense_Mutation_p.R1010I|PCDH11X_uc004efj.1_Missense_Mutation_p.R1010I	p.R1010I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3874	+			1010			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3029G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601964	0.66445	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.58358	0.43;0.46;0.61;0.34;0.66;0.42;0.59;0.49;0.66	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.34521	1.04	0.54753	D	0.999985	D;D;D;D;P;P;D;D	0.76494	0.999;0.999;0.999;0.999;0.767;0.656;0.999;0.997	D;D;D;D;P;B;D;D	0.85130	0.969;0.981;0.981;0.981;0.561;0.358;0.997;0.968	T	0.68085	-0.5502	10	0.87932	D	0	.	16.6987	0.85343	0.0:0.0:1.0:0.0	.	1010;1010;1010;1010;1010;1010;1010;1010	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	1010	ENSP00000378746:R1010I;ENSP00000362186:R1010I;ENSP00000362189:R1010I;ENSP00000355040:R1010I;ENSP00000362180:R1010I;ENSP00000423762:R1010I;ENSP00000355105:R1010I;ENSP00000384758:R1010I;ENSP00000298274:R1010I	ENSP00000298274:R1010I	R	+	2	0	PCDH11X	91020924	1.000000	0.71417	0.983000	0.44433	0.206000	0.24218	6.846000	0.75399	2.146000	0.66826	0.600000	0.82982	AGA		0.398	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		28	61	1	0	4.31865e-32	0.004878	8.36525e-32	28	61				
NAP1L3	4675	broad.mit.edu	37	X	92927735	92927735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:92927735C>A	ENST00000373079.3	-	1	832	c.569G>T	c.(568-570)gGt>gTt	p.G190V	NAP1L3_ENST00000475430.2_Missense_Mutation_p.G183V|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	190	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.G190V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTCTTCCTCACCCTCTAAGGG	0.443																																							uc004efq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)GGT>GTT		nucleosome assembly protein 1-like 3							79.0	76.0	77.0					X																	92927735		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927735C>A		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.569G>T	X.37:g.92927735C>A	ENSP00000362171:p.Gly190Val					FAM133A_uc004efr.1_5'Flank	p.G190V	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	874	-			190			Glu-rich.		B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.569G>T	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834912	0.32421	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.29655	1.56	3.99	1.21	0.21127	.	0.872944	0.09263	N	0.826161	T	0.22898	0.0553	L	0.36672	1.1	0.27407	N	0.954685	P	0.37914	0.611	B	0.40165	0.321	T	0.21518	-1.0243	10	0.29301	T	0.29	.	3.8413	0.08915	0.0:0.4987:0.179:0.3223	.	190	Q99457	NP1L3_HUMAN	V	190;183	ENSP00000362171:G190V	ENSP00000362171:G190V	G	-	2	0	NAP1L3	92814391	0.968000	0.33430	0.695000	0.30226	0.971000	0.66376	0.417000	0.21214	0.126000	0.18424	0.529000	0.55759	GGT		0.443	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		39	72	1	0	1.57019e-19	0.007835	2.81434e-19	39	72				
SRPX2	27286	broad.mit.edu	37	X	99921831	99921831	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:99921831T>C	ENST00000373004.3	+	8	1290	c.862T>C	c.(862-864)Tgt>Cgt	p.C288R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	288	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.C288R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGGTGCCACCTGTGAATACCA	0.607																																							uc004egb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(862-864)TGT>CGT		sushi-repeat-containing protein, X-linked 2							63.0	53.0	56.0					X																	99921831		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99921831T>C	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.862T>C	X.37:g.99921831T>C	ENSP00000362095:p.Cys288Arg						p.C288R	NM_014467	NP_055282	O60687	SRPX2_HUMAN			8	1342	+			288			Sushi 3.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.862T>C	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507348	0.85282	.	.	ENSG00000102359	ENST00000373004	T	0.65732	-0.17	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90164	0.4230	9	.	.	.	-13.1902	14.9563	0.71116	0.0:0.0:0.0:1.0	.	288	O60687	SRPX2_HUMAN	R	288	ENSP00000362095:C288R	.	C	+	1	0	SRPX2	99808487	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.480000	0.81109	1.915000	0.55452	0.486000	0.48141	TGT		0.607	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		10	31	0	0	0	0.001368	0	10	31				
CENPI	2491	broad.mit.edu	37	X	100417903	100417903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100417903C>T	ENST00000372927.1	+	21	2495	c.2218C>T	c.(2218-2220)Cat>Tat	p.H740Y	CENPI_ENST00000218507.5_Missense_Mutation_p.H726Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H740Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	740					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.H740Y(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGTAGTGTTCATCATTCTTC	0.383																																							uc004egx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2218-2220)CAT>TAT		centromere protein I							125.0	116.0	119.0					X																	100417903		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100417903C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.2218C>T	X.37:g.100417903C>T	ENSP00000362018:p.His740Tyr					CENPI_uc011mrg.1_Missense_Mutation_p.H726Y	p.H740Y	NM_006733	NP_006724	Q92674	CENPI_HUMAN			21	2488	+			740					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.2218C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	10.25	1.298837	0.23650	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.12	3.15	0.36227	.	0.749925	0.13322	N	0.396577	T	0.20251	0.0487	N	0.24115	0.695	0.20873	N	0.999837	P;P	0.38110	0.618;0.618	B;B	0.31016	0.123;0.123	T	0.08994	-1.0695	9	0.49607	T	0.09	-1.6054	6.7198	0.23325	0.2987:0.5364:0.165:0.0	.	726;740	B4DZL4;Q92674	.;CENPI_HUMAN	Y	740;726;740	.	ENSP00000218507:H726Y	H	+	1	0	CENPI	100304559	0.665000	0.27466	0.235000	0.24058	0.559000	0.35586	0.751000	0.26348	1.014000	0.39417	0.597000	0.82753	CAT		0.383	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		20	81	0	0	0	0.001882	0	20	81				
DRP2	1821	broad.mit.edu	37	X	100503543	100503543	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100503543G>C	ENST00000395209.3	+	14	2022	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	DRP2_ENST00000538510.1_Missense_Mutation_p.G499R|DRP2_ENST00000402866.1_Missense_Mutation_p.G499R|DRP2_ENST00000541709.1_Missense_Mutation_p.G421R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	499					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G496R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTTTAAGACTGGCATTGCATG	0.448																																							uc004egz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1495-1497)GGC>CGC		dystrophin related protein 2							254.0	233.0	240.0					X																	100503543		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503543G>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1495G>C	X.37:g.100503543G>C	ENSP00000378635:p.Gly499Arg					DRP2_uc011mrh.1_Missense_Mutation_p.G421R	p.G499R	NM_001939	NP_001930	Q13474	DRP2_HUMAN			14	1864	+			499					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1495G>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527815	0.85706	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.97	4.97	0.65823	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86194	0.1614	10	0.87932	D	0	-14.4675	17.4562	0.87608	0.0:0.0:1.0:0.0	.	499	Q13474	DRP2_HUMAN	R	499;499;421;499	ENSP00000385038:G499R;ENSP00000378635:G499R;ENSP00000444752:G421R;ENSP00000441051:G499R	ENSP00000378635:G499R	G	+	1	0	DRP2	100390199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.046000	0.60703	0.513000	0.50165	GGC		0.448	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		56	267	0	0	0	0.00361	0	56	267				
BTK	695	broad.mit.edu	37	X	100613310	100613310	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100613310G>T	ENST00000308731.7	-	12	1253	c.1090C>A	c.(1090-1092)Cac>Aac	p.H364N	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	364	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		H -> P (in XLA).		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.H364N(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						GCAGAGTTGTGCTGATGGTAG	0.488									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM056544	BTK	M		c.(1090-1092)CAC>AAC		Bruton agammaglobulinemia tyrosine kinase							230.0	193.0	205.0					X																	100613310		2203	4300	6503	SO:0001583	missense	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:100613310G>T	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.1090C>A	X.37:g.100613310G>T	ENSP00000308176:p.His364Asn					BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.H398N|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Missense_Mutation_p.H364N	p.H364N	NM_000061	NP_000052	Q06187	BTK_HUMAN			12	1283	-			364		H -> P (in XLA).	SH2.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1090C>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648589	0.87958	.	.	ENSG00000010671	ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D	0.92446	-3.04	5.57	5.57	0.84162	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.95604	0.8571	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.997	D;D;D	0.81914	0.995;0.994;0.98	D	0.95982	0.8978	10	0.87932	D	0	.	18.1577	0.89699	0.0:0.0:1.0:0.0	.	35;364;364	Q3MS94;B2RAW1;Q06187	.;.;BTK_HUMAN	N	35;35;33;35;35;35;364;34	ENSP00000308176:H364N	ENSP00000308176:H364N	H	-	1	0	BTK	100499966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.325000	0.78763	0.600000	0.82982	CAC		0.488	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		23	191	1	0	1.10513e-12	0.002299	1.73992e-12	23	191				
GLRA4	441509	broad.mit.edu	37	X	102978817	102978817	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:102978817C>A	ENST00000372617.4	-	5	964	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	182						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.D182Y(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTCTGGATGTCCATGGGGAAG	0.507																																							uc011mse.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(544-546)GAC>TAC		glycine receptor, alpha 4 precursor							120.0	110.0	113.0					X																	102978817		2018	4163	6181	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102978817C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.544G>T	X.37:g.102978817C>A	ENSP00000361700:p.Asp182Tyr					GLRA4_uc010nou.2_Missense_Mutation_p.D182Y	p.D182Y	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			5	965	-			182			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.544G>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083202	0.76642	.	.	ENSG00000188828	ENST00000372617	D	0.92149	-2.98	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	.	15.5985	0.76606	0.0:1.0:0.0:0.0	.	182;141	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	Y	182	ENSP00000361700:D182Y	ENSP00000361700:D182Y	D	-	1	0	GLRA4	102865473	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.277000	0.76020	0.600000	0.82982	GAC		0.507	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		7	34	1	0	3.09899e-07	0.004482	3.96541e-07	7	34				
IRS4	8471	broad.mit.edu	37	X	107977664	107977664	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:107977664G>T	ENST00000372129.2	-	1	1987	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	637	Pro-rich.				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.P637P(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						CAGCTGGTGGGGGTGGAGGAG	0.473																																							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.(1909-1911)CCC>CCA		insulin receptor substrate 4							177.0	190.0	185.0					X																	107977664		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977664G>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.1911C>A	X.37:g.107977664G>T							p.P637P	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1944	-			637			Pro-rich.			Silent	SNP	ENST00000372129.2	37	c.1911C>A	CCDS14544.1																																																																																				0.473	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		36	284	1	0	6.70999e-13	0.004289	1.06237e-12	36	284				
AMMECR1	9949	broad.mit.edu	37	X	109507780	109507780	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:109507780C>A	ENST00000262844.5	-	2	688	c.521G>T	c.(520-522)gGa>gTa	p.G174V	AMMECR1_ENST00000372059.2_Intron|AMMECR1_ENST00000372057.1_Missense_Mutation_p.G51V	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	174	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.G174V(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						ACCTATGCATCCACGTAATCT	0.368																																							uc004eoo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GGA>GTA		AMMECR1 protein isoform 1							156.0	141.0	146.0					X																	109507780		2203	4300	6503	SO:0001583	missense	9949							g.chrX:109507780C>A	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.521G>T	X.37:g.109507780C>A	ENSP00000262844:p.Gly174Val					AMMECR1_uc004eop.2_Intron|AMMECR1_uc004eoq.2_Missense_Mutation_p.G51V	p.G174V	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN			2	602	-			174			AMMECR1.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.521G>T	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759926	0.89932	.	.	ENSG00000101935	ENST00000262844;ENST00000372057	.	.	.	5.41	5.41	0.78517	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95139	0.8262	8	.	.	.	-15.2321	18.5226	0.90959	0.0:1.0:0.0:0.0	.	174	Q9Y4X0	AMER1_HUMAN	V	174;51	.	.	G	-	2	0	AMMECR1	109394436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.402000	0.81655	0.600000	0.82982	GGA		0.368	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			11	84	1	0	0.000151284	0.001855	0.0001717	11	84				
LONRF3	79836	broad.mit.edu	37	X	118151596	118151596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:118151596G>T	ENST00000371628.3	+	11	2254	c.2223G>T	c.(2221-2223)aaG>aaT	p.K741N	LONRF3_ENST00000304778.7_Missense_Mutation_p.K700N|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.K485N	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	741	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.K741N(1)|p.K700N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGTCCTTAAAGGACAGACTGA	0.542																																							uc004eqw.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2221-2223)AAG>AAT		LON peptidase N-terminal domain and ring finger							132.0	104.0	113.0					X																	118151596		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118151596G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2223G>T	X.37:g.118151596G>T	ENSP00000360690:p.Lys741Asn					LONRF3_uc004eqx.2_Missense_Mutation_p.K700N|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.K485N	p.K741N	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			11	2254	+			741			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.2223G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.615173|3.615173	0.66672|0.66672	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	.|T;T;T;T	.|0.47869	.|0.83;0.83;0.83;0.83	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Peptidase S16, lon N-terminal (1);PUA-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.62208	.|0.2409	M|M	0.66939|0.66939	2.045|2.045	0.39435|0.39435	D|D	0.967147|0.967147	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.81914	.|0.995;0.986;0.995	.|T	.|0.66364	.|-0.5942	.|10	.|0.72032	.|D	.|0.01	-12.1074|-12.1074	7.8047|7.8047	0.29195|0.29195	0.2454:0.0:0.7546:0.0|0.2454:0.0:0.7546:0.0	.|.	.|485;700;741	.|B3KUN7;Q496Y0-2;Q496Y0	.|.;.;LONF3_HUMAN	X|N	507|700;700;741;485	.|ENSP00000360691:K700N;ENSP00000307732:K700N;ENSP00000360690:K741N;ENSP00000408894:K485N	.|ENSP00000307732:K700N	G|K	+|+	1|3	0|2	LONRF3|LONRF3	118035624|118035624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.721000|1.721000	0.38032|0.38032	2.360000|2.360000	0.80028|0.80028	0.592000|0.592000	0.82586|0.82586	GGA|AAG		0.542	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		17	62	1	0	3.41278e-10	0.00499	4.93125e-10	17	62				
DCAF12L1	139170	broad.mit.edu	37	X	125685886	125685886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:125685886C>A	ENST00000371126.1	-	1	948	c.706G>T	c.(706-708)Gag>Tag	p.E236*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	236								p.E236*(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						AGACCCACCTCGCTATGCCAG	0.652																																							uc004eul.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(706-708)GAG>TAG		DDB1 and CUL4 associated factor 12-like 1							37.0	37.0	37.0					X																	125685886		2202	4300	6502	SO:0001587	stop_gained	139170							g.chrX:125685886C>A	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.706G>T	X.37:g.125685886C>A	ENSP00000360167:p.Glu236*						p.E236*	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	957	-			236					Q8IYK3	Nonsense_Mutation	SNP	ENST00000371126.1	37	c.706G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994171	0.74703	.	.	ENSG00000198889	ENST00000371126	.	.	.	4.13	2.35	0.29111	.	1.068410	0.07450	N	0.898879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.5728	0.17206	0.0:0.7462:0.0:0.2538	.	.	.	.	X	236	.	ENSP00000360167:E236X	E	-	1	0	DCAF12L1	125513567	0.017000	0.18338	0.000000	0.03702	0.029000	0.11900	2.050000	0.41297	0.520000	0.28426	0.429000	0.28392	GAG		0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		10	39	1	0	1.08611e-07	0.000978	1.42024e-07	10	39				
ACTRT1	139741	broad.mit.edu	37	X	127185556	127185556	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:127185556G>T	ENST00000371124.3	-	1	826	c.630C>A	c.(628-630)gcC>gcA	p.A210A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A210A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TATTTACCACGGCCTTGTTGA	0.532																																							uc004eum.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(628-630)GCC>GCA		actin-related protein T1							120.0	115.0	117.0					X																	127185556		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185556G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.630C>A	X.37:g.127185556G>T							p.A210A	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	827	-			210					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.630C>A	CCDS14611.1																																																																																				0.532	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		16	116	1	0	1.99824e-07	0.00499	2.59231e-07	16	116				
ARHGAP36	158763	broad.mit.edu	37	X	130218249	130218249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:130218249C>A	ENST00000276211.5	+	5	961	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L70M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L194M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	206					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.L206M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGCAGACCCTGCAGCTTTC	0.473																																							uc004evz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(616-618)CTG>ATG		hypothetical protein LOC158763 precursor							41.0	39.0	40.0					X																	130218249		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218249C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.616C>A	X.37:g.130218249C>A	ENSP00000276211:p.Leu206Met					ARHGAP36_uc004ewa.2_Missense_Mutation_p.L194M|ARHGAP36_uc004ewb.2_Missense_Mutation_p.L175M|ARHGAP36_uc004ewc.2_Missense_Mutation_p.L70M	p.L206M	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			5	961	+			206					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.616C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799237	0.31869	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.13657	2.57;2.57;2.58;2.75	4.99	2.28	0.28536	.	0.000000	0.39475	N	0.001342	T	0.14787	0.0357	N	0.08118	0	0.41198	D	0.98635	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.12502	-1.0545	10	0.59425	D	0.04	.	6.496	0.22142	0.0:0.6874:0.0:0.3126	.	175;194;206	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	M	206;194;158;175;70	ENSP00000276211:L206M;ENSP00000359960:L194M;ENSP00000408515:L175M;ENSP00000359959:L70M	ENSP00000276211:L206M	L	+	1	2	ARHGAP36	130045930	0.973000	0.33851	0.994000	0.49952	0.064000	0.16182	2.267000	0.43329	0.240000	0.21263	-0.297000	0.09499	CTG		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		13	29	1	0	1.61879e-10	0.001368	2.37214e-10	13	29				
DDX26B	203522	broad.mit.edu	37	X	134703357	134703357	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:134703357G>T	ENST00000370752.4	+	10	1621		c.e10+1		AL391380.1_ENST00000580703.1_RNA|DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B									p.V430L(1)|p.?(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTATTAGTATGTATTTG	0.333																																							uc004eyw.3		NA																	2	Substitution - Missense(1)|Unknown(1)		lung(2)		0						c.e10+1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							86.0	79.0	82.0					X																	134703357		2203	4300	6503	SO:0001630	splice_region_variant	203522							g.chrX:134703357G>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1287+1G>T	X.37:g.134703357G>T						DDX26B_uc004eyx.3_Splice_Site	p.L429_splice	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			10	1650	+	Acute lymphoblastic leukemia(192;6.56e-05)							Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	SNP	ENST00000370752.4	37	c.1287_splice	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862176	0.51482	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7045	0.85368	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX26B	134531023	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.567000	0.98161	2.235000	0.73313	0.538000	0.68166	.		0.333	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Intron	83	29	1	0	1.79992e-35	0.00361	3.52461e-35	83	29				
SLC9A6	10479	broad.mit.edu	37	X	135112295	135112295	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135112295G>T	ENST00000370698.3	+	13	1560	c.1525G>T	c.(1525-1527)Ggt>Tgt	p.G509C	SLC9A6_ENST00000370695.4_Missense_Mutation_p.G541C|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489C	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.G509C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTTAGGGTTGGTGTTGATTC	0.363																																							uc004ezj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1525-1527)GGT>TGT		solute carrier family 9 (sodium/hydrogen							297.0	240.0	259.0					X																	135112295		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135112295G>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1525G>T	X.37:g.135112295G>T	ENSP00000359732:p.Gly509Cys					SLC9A6_uc004ezk.2_Missense_Mutation_p.G541C	p.G509C	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			13	1601	+	Acute lymphoblastic leukemia(192;0.000127)		509					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1525G>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684202	0.47991	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.38887	1.11;1.11;1.11	4.55	4.55	0.56014	.	0.953589	0.08741	N	0.900614	T	0.65154	0.2664	M	0.78285	2.405	0.80722	D	1	D;B	0.71674	0.998;0.434	D;B	0.66497	0.944;0.304	T	0.60535	-0.7244	10	0.87932	D	0	.	11.877	0.52552	0.0:0.0:1.0:0.0	.	541;509	Q92581-2;Q92581	.;SL9A6_HUMAN	C	489;509;541	ENSP00000359735:G489C;ENSP00000359732:G509C;ENSP00000359729:G541C	ENSP00000359729:G541C	G	+	1	0	SLC9A6	134939961	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.143000	0.77348	1.840000	0.53500	0.292000	0.19580	GGT		0.363	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		100	53	1	0	9.42799e-54	0.00361	1.87417e-53	100	53				
SLC9A6	10479	broad.mit.edu	37	X	135112301	135112301	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135112301G>C	ENST00000370698.3	+	13	1566	c.1531G>C	c.(1531-1533)Gat>Cat	p.D511H	SLC9A6_ENST00000370695.4_Missense_Mutation_p.D543H|SLC9A6_ENST00000370701.1_Missense_Mutation_p.D491H	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	511					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.D511H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTTGGTGTTGATTCAGACCA	0.353																																							uc004ezj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1531-1533)GAT>CAT		solute carrier family 9 (sodium/hydrogen							303.0	245.0	264.0					X																	135112301		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135112301G>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1531G>C	X.37:g.135112301G>C	ENSP00000359732:p.Asp511His					SLC9A6_uc004ezk.2_Missense_Mutation_p.D543H	p.D511H	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			13	1607	+	Acute lymphoblastic leukemia(192;0.000127)		511					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1531G>C	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291544	0.59976	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.32515	1.45;1.45;1.45	4.36	4.36	0.52297	.	0.799953	0.11743	N	0.533801	T	0.58032	0.2094	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72075	0.976;0.957	T	0.58549	-0.7617	10	0.72032	D	0.01	.	11.5451	0.50688	0.0:0.0:1.0:0.0	.	543;511	Q92581-2;Q92581	.;SL9A6_HUMAN	H	491;511;543	ENSP00000359735:D491H;ENSP00000359732:D511H;ENSP00000359729:D543H	ENSP00000359729:D543H	D	+	1	0	SLC9A6	134939967	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.143000	0.77348	1.755000	0.51935	0.292000	0.19580	GAT		0.353	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		8	147	0	0	0	0.006214	0	8	147				
GPR112	139378	broad.mit.edu	37	X	135427823	135427823	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135427823A>T	ENST00000394143.1	+	6	2249	c.1958A>T	c.(1957-1959)gAg>gTg	p.E653V	GPR112_ENST00000394141.1_Missense_Mutation_p.E448V|GPR112_ENST00000287534.4_Missense_Mutation_p.E590V|GPR112_ENST00000370652.1_Missense_Mutation_p.E653V|GPR112_ENST00000412101.1_Missense_Mutation_p.E448V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	653					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.E653V(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)					TCCAGCAATGAGACCATTTGG	0.468																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1957-1959)GAG>GTG		G-protein coupled receptor 112							114.0	99.0	104.0					X																	135427823		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427823A>T	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.1958A>T	X.37:g.135427823A>T	ENSP00000377699:p.Glu653Val					GPR112_uc010nsb.1_Missense_Mutation_p.E448V|GPR112_uc010nsc.1_Missense_Mutation_p.E420V	p.E653V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2249	+	Acute lymphoblastic leukemia(192;0.000127)		653			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.1958A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.05	2.120368	0.37436	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.42513	1.01;1.01;0.97;1.07;0.97	2.02	2.02	0.26589	.	.	.	.	.	T	0.46054	0.1373	L	0.29908	0.895	0.09310	N	1	D;D;D	0.69078	0.997;0.99;0.994	D;P;P	0.78314	0.991;0.856;0.722	T	0.17592	-1.0364	9	0.46703	T	0.11	.	5.5145	0.16898	1.0:0.0:0.0:0.0	.	590;448;653	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	653;653;448;590;448	ENSP00000377699:E653V;ENSP00000359686:E653V;ENSP00000416526:E448V;ENSP00000287534:E590V;ENSP00000377697:E448V	ENSP00000287534:E590V	E	+	2	0	GPR112	135255489	0.008000	0.16893	0.006000	0.13384	0.104000	0.19210	0.638000	0.24674	1.078000	0.41014	0.231000	0.17811	GAG		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			14	107	0	0	0	0.004007	0	14	107				
GPR112	139378	broad.mit.edu	37	X	135455194	135455194	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135455194C>G	ENST00000394143.1	+	15	8038	c.7747C>G	c.(7747-7749)Cac>Gac	p.H2583D	GPR112_ENST00000394141.1_Missense_Mutation_p.H2378D|GPR112_ENST00000287534.4_Missense_Mutation_p.H2381D|GPR112_ENST00000370652.1_Missense_Mutation_p.H2583D|GPR112_ENST00000412101.1_Missense_Mutation_p.H2378D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2583					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.H2583D(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)					TTTCAGCATTCACTCCTATGA	0.532																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7747-7749)CAC>GAC		G-protein coupled receptor 112							214.0	187.0	196.0					X																	135455194		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455194C>G	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.7747C>G	X.37:g.135455194C>G	ENSP00000377699:p.His2583Asp					GPR112_uc010nsb.1_Missense_Mutation_p.H2378D	p.H2583D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			15	8038	+	Acute lymphoblastic leukemia(192;0.000127)		2583			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7747C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	3.803	-0.041273	0.07452	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27402	1.71;1.71;1.67;1.86;1.67	5.24	-2.68	0.06041	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B	0.26400	0.148;0.015	B;B	0.24394	0.053;0.028	T	0.27839	-1.0062	9	0.12103	T	0.63	.	0.4064	0.00434	0.247:0.2811:0.2384:0.2334	.	2378;2583	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	D	2583;2583;2378;2381;2378	ENSP00000377699:H2583D;ENSP00000359686:H2583D;ENSP00000416526:H2378D;ENSP00000287534:H2381D;ENSP00000377697:H2378D	ENSP00000287534:H2381D	H	+	1	0	GPR112	135282860	0.013000	0.17824	0.000000	0.03702	0.195000	0.23768	0.110000	0.15437	-1.150000	0.02840	-0.928000	0.02712	CAC		0.532	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			205	349	0	0	0	0.00361	0	205	349				
MAGEC3	139081	broad.mit.edu	37	X	140967167	140967167	+	Silent	SNP	C	C	A	rs372869684		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:140967167C>A	ENST00000298296.1	+	3	465	c.465C>A	c.(463-465)tcC>tcA	p.S155S	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	155			S -> P (in dbSNP:rs11095909).					p.S155S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTTTCCCTTCCTGCCG	0.572																																							uc011mwp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(463-465)TCC>TCA		melanoma antigen family C, 3 isoform 1							36.0	31.0	33.0					X																	140967167		2070	4297	6367	SO:0001819	synonymous_variant	139081							g.chrX:140967167C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.465C>A	X.37:g.140967167C>A							p.S155S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			3	465	+	Acute lymphoblastic leukemia(192;6.56e-05)		155					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.465C>A	CCDS14676.1																																																																																				0.572	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		4	6	1	0	0.000602214	0.000602	0.000663582	4	6				
MAGEC1	9947	broad.mit.edu	37	X	140995493	140995493	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:140995493A>T	ENST00000285879.4	+	4	2589	c.2303A>T	c.(2302-2304)gAg>gTg	p.E768V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	768								p.E768V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTCCTGAGGGGCCTGCT	0.532										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2302-2304)GAG>GTG		melanoma antigen family C, 1							125.0	138.0	134.0					X																	140995493		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995493A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2303A>T	X.37:g.140995493A>T	ENSP00000285879:p.Glu768Val	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.E768V	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2589	+	Acute lymphoblastic leukemia(192;6.56e-05)		768					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2303A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	11.12	1.544481	0.27563	.	.	ENSG00000155495	ENST00000285879	T	0.02656	4.21	1.02	1.02	0.19986	.	.	.	.	.	T	0.02533	0.0077	N	0.24115	0.695	0.58432	D	0.999998	P	0.44006	0.824	B	0.42959	0.403	T	0.59637	-0.7417	9	0.87932	D	0	.	6.0214	0.19630	0.9999:0.0:1.0E-4:0.0	.	768	O60732	MAGC1_HUMAN	V	768	ENSP00000285879:E768V	ENSP00000285879:E768V	E	+	2	0	MAGEC1	140823159	0.799000	0.28903	0.013000	0.15412	0.023000	0.10783	0.268000	0.18571	0.238000	0.21222	0.235000	0.17854	GAG		0.532	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		46	273	0	0	0	0.003214	0	46	273				
SLITRK4	139065	broad.mit.edu	37	X	142717696	142717696	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:142717696C>A	ENST00000381779.4	-	2	1454	c.1229G>T	c.(1228-1230)aGc>aTc	p.S410I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S410I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S410I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	410						integral component of membrane (GO:0016021)		p.S410I(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTGATTGCTGCCTAAATG	0.398																																							uc004fbx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1228-1230)AGC>ATC		slit and trk like 4 protein precursor							151.0	126.0	134.0					X																	142717696		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717696C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1229G>T	X.37:g.142717696C>A	ENSP00000371198:p.Ser410Ile					SLITRK4_uc004fby.2_Missense_Mutation_p.S410I	p.S410I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1605	-	Acute lymphoblastic leukemia(192;6.56e-05)		410			Extracellular (Potential).|LRR 8.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1229G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045411	0.55110	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54479	0.57;0.57;0.57	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.49455	1.56	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	T	0.66156	-0.5994	10	0.59425	D	0.04	-11.8126	16.6862	0.85309	0.0:1.0:0.0:0.0	.	410	Q8IW52	SLIK4_HUMAN	I	410	ENSP00000371198:S410I;ENSP00000349400:S410I;ENSP00000336627:S410I	ENSP00000336627:S410I	S	-	2	0	SLITRK4	142545362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.319000	0.51983	2.343000	0.79666	0.538000	0.68166	AGC		0.398	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		22	69	1	0	3.62473e-10	0.001882	5.22599e-10	22	69				
CXorf40A	91966	broad.mit.edu	37	X	148627288	148627288	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:148627288A>G	ENST00000441248.1	+	3	1699	c.112A>G	c.(112-114)Acc>Gcc	p.T38A	CXorf40A_ENST00000359293.5_Missense_Mutation_p.T38A|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000434353.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000450602.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000423421.1_Missense_Mutation_p.T38A|CXorf40A_ENST00000514208.1_Missense_Mutation_p.T38A|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000393985.3_Missense_Mutation_p.T38A|CXorf40A_ENST00000423540.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000422892.2_Missense_Mutation_p.T38A			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	38								p.T38A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCGGAACTGTACCATCGCCGT	0.592																																							uc004fdb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)ACC>GCC		chromosome X open reading frame 40							70.0	52.0	58.0					X																	148627288		2203	4299	6502	SO:0001583	missense	91966						protein binding	g.chrX:148627288A>G	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.112A>G	X.37:g.148627288A>G	ENSP00000423099:p.Thr38Ala					CXorf40A_uc011mxm.1_Missense_Mutation_p.T38A|CXorf40A_uc011mxn.1_Missense_Mutation_p.T38A|CXorf40A_uc004fdd.2_Missense_Mutation_p.T38A|CXorf40A_uc004fde.1_Missense_Mutation_p.T38A|CXorf40A_uc011mxo.1_Missense_Mutation_p.Y127C|CXorf40A_uc004fdg.2_Missense_Mutation_p.T38A|CXorf40A_uc004fdf.2_Missense_Mutation_p.T38A|CXorf40A_uc004fdh.2_Missense_Mutation_p.T38A|CXorf40A_uc010nsy.2_Missense_Mutation_p.T38A|CXorf40A_uc004fdi.2_Missense_Mutation_p.T55A	p.T38A	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN			4	384	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		38					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.112A>G	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425197	0.43020	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	3.39	3.39	0.38822	PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95497	0.8537	M	0.82923	2.615	0.51233	D	0.999917	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.83275	0.996;0.994;0.99	D	0.95419	0.8505	10	0.87932	D	0	.	10.7103	0.45980	1.0:0.0:0.0:0.0	.	38;38;38	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	A	38	ENSP00000427540:T38A;ENSP00000423099:T38A;ENSP00000421745:T38A;ENSP00000422512:T38A;ENSP00000425520:T38A;ENSP00000423160:T38A;ENSP00000423708:T38A;ENSP00000422312:T38A;ENSP00000420882:T38A	ENSP00000420882:T38A	T	+	1	0	CXorf40A	148435193	0.585000	0.26774	0.010000	0.14722	0.056000	0.15407	4.013000	0.57138	1.370000	0.46153	0.371000	0.22339	ACC		0.592	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		10	53	0	0	0	0.008291	0	10	53				
ZNF185	7739	broad.mit.edu	37	X	152083041	152083041	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:152083041T>G	ENST00000370268.4	+	1	45	c.8T>G	c.(7-9)aTc>aGc	p.I3S	ZNF185_ENST00000318504.7_Missense_Mutation_p.I3S|ZNF185_ENST00000449285.2_Missense_Mutation_p.I3S|ZNF185_ENST00000370270.2_Missense_Mutation_p.I3S|ZNF185_ENST00000535861.1_Missense_Mutation_p.I3S|ZNF185_ENST00000324823.6_De_novo_Start_InFrame|ZNF185_ENST00000539731.1_Missense_Mutation_p.I3S			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	3						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I3S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGAGTATCTCAGCTCTT	0.547																																							uc010ntv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(7-9)ATC>AGC		zinc finger protein 185							53.0	51.0	51.0					X																	152083041		1912	4103	6015	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152083041T>G	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.8T>G	X.37:g.152083041T>G	ENSP00000359291:p.Ile3Ser					ZNF185_uc011myg.1_Missense_Mutation_p.I3S|ZNF185_uc011myh.1_Missense_Mutation_p.I3S|ZNF185_uc011myi.1_Missense_Mutation_p.I3S|ZNF185_uc011myj.1_Missense_Mutation_p.I3S|ZNF185_uc011myk.1_Missense_Mutation_p.I3S	p.I3S	NM_007150	NP_009081	O15231	ZN185_HUMAN			1	45	+	Acute lymphoblastic leukemia(192;6.56e-05)		3					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.8T>G	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721615	0.30503	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000370268	T;T;T;T;T	0.53423	0.62;0.65;0.64;0.67;0.69	3.58	3.58	0.41010	.	.	.	.	.	T	0.58337	0.2115	L	0.50333	1.59	0.80722	D	1	P;P;D;D;D;P	0.76494	0.952;0.952;0.999;0.975;0.975;0.884	P;P;D;P;P;P	0.83275	0.575;0.575;0.996;0.716;0.716;0.478	T	0.60037	-0.7341	9	0.87932	D	0	.	7.7877	0.29101	0.0:0.0:0.0:1.0	.	3;3;3;3;3;3	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231	.;.;.;.;.;ZN185_HUMAN	S	3	ENSP00000440847:I3S;ENSP00000444367:I3S;ENSP00000395228:I3S;ENSP00000312782:I3S;ENSP00000359291:I3S	ENSP00000312782:I3S	I	+	2	0	ZNF185	151833697	0.039000	0.19947	0.888000	0.34837	0.105000	0.19272	0.961000	0.29267	1.654000	0.50703	0.430000	0.28490	ATC		0.547	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		12	3	0	0	0	0.001855	0	12	3				
SSR4	6748	broad.mit.edu	37	X	153062964	153062964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153062964G>T	ENST00000320857.3	+	4	1322	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	SSR4_ENST00000370085.3_Intron|SSR4_ENST00000370086.3_Missense_Mutation_p.G80C|IDH3G_ENST00000370092.3_5'Flank|SSR4_ENST00000460616.1_3'UTR|IDH3G_ENST00000217901.5_5'Flank|SSR4_ENST00000370087.1_Missense_Mutation_p.G80C	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	80					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)		p.G80C(1)		central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACTCGAGGCCAGGATGT	0.617																																							uc004fiw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GGC>TGC		signal sequence receptor, delta precursor							97.0	70.0	79.0					X																	153062964		2203	4300	6503	SO:0001583	missense	6748				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding	g.chrX:153062964G>T	BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.238G>T	X.37:g.153062964G>T	ENSP00000317331:p.Gly80Cys					IDH3G_uc004fip.2_5'Flank|IDH3G_uc004fiq.2_5'Flank|IDH3G_uc010num.2_5'Flank|IDH3G_uc004fir.2_5'Flank|IDH3G_uc004fit.1_5'Flank|IDH3G_uc004fis.2_5'Flank|SSR4_uc004fiv.2_Missense_Mutation_p.G91C	p.G80C	NM_006280	NP_006271	P51571	SSRD_HUMAN			3	287	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		80			Lumenal (Potential).		A8K378|Q53XY1	Missense_Mutation	SNP	ENST00000320857.3	37	c.238G>T	CCDS14731.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754272	0.89843	.	.	ENSG00000180879	ENST00000320857;ENST00000370087;ENST00000370086	T;T;T	0.45276	0.9;0.9;0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.63563	-0.6609	10	0.37606	T	0.19	-2.0E-4	17.1804	0.86853	0.0:0.0:1.0:0.0	.	80	P51571	SSRD_HUMAN	C	80	ENSP00000317331:G80C;ENSP00000359104:G80C;ENSP00000359103:G80C	ENSP00000317331:G80C	G	+	1	0	SSR4	152716158	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.538000	0.73852	2.409000	0.81822	0.529000	0.55759	GGC		0.617	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061029.1	NM_006280		9	53	1	0	0.00829132	0.008291	0.00871651	9	53				
L1CAM	3897	broad.mit.edu	37	X	153130872	153130872	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153130872G>T	ENST00000370060.1	-	21	2820	c.2631C>A	c.(2629-2631)acC>acA	p.T877T	L1CAM_ENST00000543994.1_Silent_p.T879T|L1CAM_ENST00000370057.3_Silent_p.T877T|L1CAM_ENST00000370055.1_Silent_p.T872T|L1CAM_ENST00000361699.4_Silent_p.T877T|L1CAM_ENST00000361981.3_Silent_p.T872T|L1CAM_ENST00000538883.1_Silent_p.T879T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.T877T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACACTGGTGGTGTTGGCGG	0.602																																							uc004fjb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(2629-2631)ACC>ACA		L1 cell adhesion molecule isoform 1 precursor							172.0	137.0	149.0					X																	153130872		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130872G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2631C>A	X.37:g.153130872G>T						L1CAM_uc004fjc.2_Silent_p.T877T|L1CAM_uc010nuo.2_Silent_p.T872T	p.T877T	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2739	-	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)		877			Extracellular (Potential).|Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.2631C>A	CCDS14733.1																																																																																				0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		32	181	1	0	6.03219e-31	0.00361	1.16272e-30	32	181				
MECP2	4204	broad.mit.edu	37	X	153297886	153297886	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153297886G>C	ENST00000303391.6	-	3	398	c.149C>G	c.(148-150)gCc>gGc	p.A50G	MECP2_ENST00000407218.1_Missense_Mutation_p.A50G|MECP2_ENST00000453960.2_Missense_Mutation_p.A62G|MECP2_ENST00000460227.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	50					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.A50G(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTGGTGGGCTGATGGCTG	0.572																																							uc004fjv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GCC>GGC		methyl CpG binding protein 2 isoform 1							115.0	114.0	114.0					X																	153297886		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297886G>C	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.149C>G	X.37:g.153297886G>C	ENSP00000301948:p.Ala50Gly					MECP2_uc004fjw.2_Missense_Mutation_p.A62G	p.A50G	NM_004992	NP_004983	P51608	MECP2_HUMAN			3	375	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		50					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.149C>G	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690389	0.48097	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.97870	-2.66;-2.66;-4.58;-1.96	5.75	5.75	0.90469	.	0.294242	0.30575	N	0.009338	D	0.92993	0.7770	N	0.19112	0.55	0.30073	N	0.80986	B;P	0.34662	0.073;0.462	B;B	0.28553	0.081;0.091	D	0.89744	0.3935	10	0.23891	T	0.37	-20.3221	12.7108	0.57088	0.0:0.0:0.8355:0.1645	.	62;50	P51608-2;P51608	.;MECP2_HUMAN	G	50;50;62;50;50;50	ENSP00000301948:A50G;ENSP00000395535:A62G;ENSP00000384865:A50G;ENSP00000416267:A50G	ENSP00000301948:A50G	A	-	2	0	MECP2	152951080	0.934000	0.31675	0.991000	0.47740	0.792000	0.44763	2.221000	0.42917	2.439000	0.82584	0.529000	0.55759	GCC		0.572	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		24	191	0	0	0	0.007291	0	24	191				
CTAG2	30848	broad.mit.edu	37	X	153880722	153880722	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153880722C>A	ENST00000247306.4	-	2	516	c.453G>T	c.(451-453)gtG>gtT	p.V151V	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	151						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					GCCCCCAACCCACCACCCTCA	0.607																																							uc004fmi.1		NA																	0				pancreas(1)	1						c.(451-453)GTG>GTT		cancer/testis antigen 2 isoform LAGE-1b							86.0	82.0	83.0					X																	153880722		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880722C>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.453G>T	X.37:g.153880722C>A						CTAG2_uc004fmh.1_Intron	p.V151V	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	506	-	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)		151					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.453G>T	CCDS14759.1																																																																																				0.607	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		24	145	1	0	1.96895e-08	0.00278	2.65222e-08	24	145				
SPRY3	10251	broad.mit.edu	37	X	155004396	155004396	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:155004396T>A	ENST00000302805.2	+	2	1294	c.863T>A	c.(862-864)gTa>gAa	p.V288E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	288					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V288E(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAAAGTCTGTATGACCTTCC	0.542																																							uc004fnq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(862-864)GTA>GAA		sprouty homolog 3							98.0	98.0	98.0					X																	155004396		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004396T>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.863T>A	X.37:g.155004396T>A	ENSP00000302978:p.Val288Glu					SPRY3_uc010nvl.1_Missense_Mutation_p.V189E	p.V288E	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	1317	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		288					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.863T>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785400	0.49997	.	.	ENSG00000168939	ENST00000302805	T	0.57107	0.42	3.12	3.12	0.35913	.	0.093262	0.45606	D	0.000351	T	0.66809	0.2827	.	.	.	0.09310	N	1	D	0.64830	0.994	D	0.73708	0.981	T	0.56486	-0.7971	9	0.87932	D	0	-12.4063	8.9044	0.35515	0.0:0.0:0.0:1.0	.	288	O43610	SPY3_HUMAN	E	288	ENSP00000302978:V288E	ENSP00000302978:V288E	V	+	2	0	SPRY3	154657590	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	3.626000	0.54245	1.277000	0.44412	0.231000	0.17811	GTA		0.542	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		14	163	0	0	0	0.003163	0	14	163				
HIPK1	204851	broad.mit.edu	37	1	114508811	114508812	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:114508811_114508812insG	ENST00000369558.1	+	11	2530_2531	c.2298_2299insG	c.(2299-2301)gggfs	p.G767fs	HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.G767fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.G393fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.G722fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.G373fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.G373fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.G733fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.G767fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.G722fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	767					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P766P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGTTGCCTGGGGTAGCTCT	0.52																																							uc001eem.2		NA																	1	Substitution - coding silent(1)	p.P766P(1)	ovary(1)	ovary(4)	4						c.(2296-2301)CCTGGGfs		homeodomain-interacting protein kinase 1 isoform																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114508811_114508812insG	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2302dupG	1.37:g.114508815_114508815dupG	ENSP00000358571:p.Gly767fs					HIPK1_uc001eel.2_Frame_Shift_Ins_p.P766fs|HIPK1_uc001een.2_Frame_Shift_Ins_p.P766fs|HIPK1_uc001eeo.2_Frame_Shift_Ins_p.P392fs|HIPK1_uc001eep.2_Frame_Shift_Ins_p.P372fs|HIPK1_uc001eeq.2_Frame_Shift_Ins_p.P58fs	p.P766fs	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2459_2460	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	766_767					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.2298_2299insG	CCDS867.1																																																																																				0.520	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		17	79	NA	NA	NA	NA	NA	17	79	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171310836	171310836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:171310836delC	ENST00000367749.3	+	10	1865	c.1535delC	c.(1534-1536)tcafs	p.S512fs		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	512					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCCTCCATGTCACATTATTTA	0.443																																					Pancreas(24;816 862 7754 7993 32832)	Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	0				kidney(2)|skin(1)	3						c.(1534-1536)TCAfs		flavin containing monooxygenase 4							52.0	51.0	51.0					1																	171310836		2203	4300	6503	SO:0001589	frameshift_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171310836delC	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1535delC	1.37:g.171310836delC	ENSP00000356723:p.Ser512fs						p.S512fs	NM_002022	NP_002013	P31512	FMO4_HUMAN			10	1752	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		512					Q53XR0	Frame_Shift_Del	DEL	ENST00000367749.3	37	c.1535delC	CCDS1295.1																																																																																				0.443	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	75	NA	NA	NA	NA	NA	8	75	---	---	---	---
LAX1	54900	broad.mit.edu	37	1	203743105	203743105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:203743105delG	ENST00000442561.2	+	5	883	c.493delG	c.(493-495)gggfs	p.G165fs	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Frame_Shift_Del_p.G149fs	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	165					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGATGTGTGGGAACCTCAC	0.542																																							uc001haa.2		NA																	0				central_nervous_system(2)	2						c.(493-495)GGGfs		lymphocyte transmembrane adaptor 1 isoform a							100.0	90.0	94.0					1																	203743105		2203	4300	6503	SO:0001589	frameshift_variant	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743105delG	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.493delG	1.37:g.203743105delG	ENSP00000406970:p.Gly165fs					LAX1_uc010pql.1_Frame_Shift_Del_p.G149fs|LAX1_uc001hab.2_Frame_Shift_Del_p.G89fs	p.G165fs	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	903	+	all_cancers(21;0.0915)		165			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Frame_Shift_Del	DEL	ENST00000442561.2	37	c.493delG	CCDS1441.2																																																																																				0.542	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		23	143	NA	NA	NA	NA	NA	23	143	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588730	204588730	+	Frame_Shift_Del	DEL	G	G	-	rs148739326		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204588730delG	ENST00000367175.1	-	1	2603	c.391delC	c.(391-393)cggfs	p.R131fs	LRRN2_ENST00000367176.3_Frame_Shift_Del_p.R131fs|LRRN2_ENST00000367177.3_Frame_Shift_Del_p.R131fs|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	131					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCTCCAGCCGGGTCAGCTGG	0.607																																							uc001hbe.1		NA																	0				central_nervous_system(2)	2						c.(391-393)CGGfs		leucine rich repeat neuronal 2 precursor							89.0	94.0	92.0					1																	204588730		2203	4300	6503	SO:0001589	frameshift_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588730delG	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.391delC	1.37:g.204588730delG	ENSP00000356143:p.Arg131fs					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.R131fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.R131fs|MDM4_uc001hbc.2_Intron	p.R131fs	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	779	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		131			LRR 3.|Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Frame_Shift_Del	DEL	ENST00000367175.1	37	c.391delC	CCDS1448.1																																																																																				0.607	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		38	275	NA	NA	NA	NA	NA	38	275	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229771777	229771778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229771777_229771778insT	ENST00000258243.2	+	4	1553_1554	c.1417_1418insT	c.(1417-1419)gttfs	p.V473fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	473						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTTTGAAGAGGTTTTGGGGGTG	0.564																																							uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1417-1419)GTTfs		URB2 ribosome biogenesis 2 homolog																																				SO:0001589	frameshift_variant	9816					nucleolus		g.chr1:229771777_229771778insT	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1421dupT	1.37:g.229771781_229771781dupT	ENSP00000258243:p.Val473fs					URB2_uc009xfd.1_Frame_Shift_Ins_p.V473fs	p.V473fs	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1553_1554	+			473					Q5VYC9	Frame_Shift_Ins	INS	ENST00000258243.2	37	c.1417_1418insT	CCDS31052.1																																																																																				0.564	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		40	369	NA	NA	NA	NA	NA	40	369	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6261404	6261418	+	In_Frame_Del	DEL	TGGTCTACGTGCGGC	TGGTCTACGTGCGGC	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TGGTCTACGTGCGGC	TGGTCTACGTGCGGC	-	-	TGGTCTACGTGCGGC	TGGTCTACGTGCGGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6261404_6261418delTGGTCTACGTGCGGC	ENST00000379936.2	+	4	495_509	c.380_394delTGGTCTACGTGCGGC	c.(379-396)gtggtctacgtgcggctg>gtg	p.VYVRL128del	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	128					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGATGTGGTCTACGTGCGGCTGGGCCCGCA	0.623																																							uc001mco.2		NA																	0				skin(1)	1						c.(379-396)GTGGTCTACGTGCGGCTG>GTG		cyclic nucleotide gated channel alpha 4																																				SO:0001651	inframe_deletion	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261404_6261418delTGGTCTACGTGCGGC	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.380_394delTGGTCTACGTGCGGC	11.37:g.6261404_6261418delTGGTCTACGTGCGGC	ENSP00000369268:p.Val128_Leu132del					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_In_Frame_Del_p.VYVRL88del	p.VYVRL128del	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	487_501	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	128_132			Helical; Name=H3; (Potential).			In_Frame_Del	DEL	ENST00000379936.2	37	c.380_394delTGGTCTACGTGCGGC	CCDS31408.1																																																																																				0.623	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		18	455	NA	NA	NA	NA	NA	18	455	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7818246	7818246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7818246delG	ENST00000329434.2	-	1	274	c.244delC	c.(244-246)ctgfs	p.L82fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|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)		CTCTCCACCAGGAAGTTTACA	0.483																																							uc001mfp.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(244-246)CTGfs		olfactory receptor, family 5, subfamily P,							89.0	108.0	101.0					11																	7818246		2099	4292	6391	SO:0001589	frameshift_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818246delG	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.244delC	11.37:g.7818246delG	ENSP00000331823:p.Leu82fs						p.L82fs	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	244	-			82			Extracellular (Potential).		Q3MIS8	Frame_Shift_Del	DEL	ENST00000329434.2	37	c.244delC	CCDS7782.1																																																																																				0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		7	127	NA	NA	NA	NA	NA	7	127	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16117639	16117640	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:16117639_16117640insT	ENST00000352083.6	-	9	1080_1081	c.1003_1004insA	c.(1003-1005)attfs	p.I335fs	SOX6_ENST00000528429.1_Frame_Shift_Ins_p.I335fs|SOX6_ENST00000316399.6_Frame_Shift_Ins_p.I335fs|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000396356.3_Frame_Shift_Ins_p.I335fs			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	335					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGGTTAATTTGTGGGTGG	0.391																																							uc001mme.2		NA																	0				ovary(3)	3						c.(1042-1044)ATTfs		SRY (sex determining region Y)-box 6 isoform 4																																				SO:0001589	frameshift_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16117639_16117640insT	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1004dupA	11.37:g.16117642_16117642dupT	ENSP00000339876:p.Ile335fs					SOX6_uc001mmd.2_Intron|SOX6_uc001mmf.2_Intron|SOX6_uc001mmg.2_Frame_Shift_Ins_p.I335fs	p.I348fs	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			9	1075_1076	-			335					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Frame_Shift_Ins	INS	ENST00000352083.6	37	c.1042_1043insA																																																																																					0.391	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		8	93	NA	NA	NA	NA	NA	8	93	---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112050130	112050130	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:112050130delG	ENST00000357685.5	+	2	353	c.218delG	c.(217-219)tggfs	p.W73fs	BCO2_ENST00000438022.1_Frame_Shift_Del_p.W39fs|BCO2_ENST00000361053.4_Frame_Shift_Del_p.W73fs|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000526088.1_Frame_Shift_Del_p.W39fs|BCO2_ENST00000531169.1_Frame_Shift_Del_p.W39fs|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532699.1_Intron|AP002884.3_ENST00000532612.1_Frame_Shift_Del_p.W44fs|BCO2_ENST00000393032.2_Frame_Shift_Del_p.W39fs			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	73					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCTCGAGTCTGGGGACATTTT	0.517																																					GBM(177;1916 2099 21049 29541 39946)	GBM(177;1916 2099 21049 29541 39946)	uc001pnf.2		NA																	0					0						c.(217-219)TGGfs		beta-carotene dioxygenase 2 isoform a							90.0	85.0	87.0					11																	112050130		2201	4297	6498	SO:0001589	frameshift_variant	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050130delG	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.218delG	11.37:g.112050130delG	ENSP00000350314:p.Trp73fs					BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Frame_Shift_Del_p.W73fs|BCO2_uc001pnh.2_Frame_Shift_Del_p.W39fs|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Frame_Shift_Del_p.W39fs|BCO2_uc001pni.2_Frame_Shift_Del_p.W39fs	p.W73fs	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN			2	335	+			73					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Frame_Shift_Del	DEL	ENST00000357685.5	37	c.218delG	CCDS8358.2																																																																																				0.517	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		26	132	NA	NA	NA	NA	NA	26	132	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018915	14018915	+	Frame_Shift_Del	DEL	G	G	-	rs77299791	byFrequency	TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:14018915delG	ENST00000609686.1	-	2	437	c.228delC	c.(226-228)accfs	p.T76fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	76					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)			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)	TCTTTGGGTCGGTCTCATTCA	0.562																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(226-228)ACCfs		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						194.0	165.0	175.0					12																	14018915		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:14018915delG		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.228delC	12.37:g.14018915delG	ENSP00000477455:p.Thr76fs						p.T76fs	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	407	-			76			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Del	DEL	ENST00000609686.1	37	c.228delC	CCDS8662.1																																																																																				0.562	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			55	195	NA	NA	NA	NA	NA	55	195	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26835587	26835587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:26835587delT	ENST00000381340.3	-	12	1584	c.1168delA	c.(1168-1170)aggfs	p.R390fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	390	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATAAATGCCTTAACCGAACA	0.323																																							uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1168-1170)AGGfs		inositol 1,4,5-triphosphate receptor, type 2							151.0	131.0	137.0					12																	26835587		1846	4083	5929	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26835587delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1168delA	12.37:g.26835587delT	ENSP00000370744:p.Arg390fs						p.R390fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			12	1585	-	Colorectal(261;0.0847)		390			Cytoplasmic (Potential).|MIR 5.		O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.1168delA	CCDS41764.1																																																																																				0.323	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		51	122	NA	NA	NA	NA	NA	51	122	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29648356	29648356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29648356delC	ENST00000318184.5	-	4	315	c.316delG	c.(316-318)gagfs	p.E106fs		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	106	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGCTGTACTCCCCAGAAGTC	0.383																																							uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(316-318)GAGfs		ovochymase 1 precursor							90.0	83.0	85.0					12																	29648356		1824	4082	5906	SO:0001589	frameshift_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29648356delC	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.316delG	12.37:g.29648356delC	ENSP00000326708:p.Glu106fs						p.E106fs	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			4	316	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		106			Peptidase S1 1.			Frame_Shift_Del	DEL	ENST00000318184.5	37	c.316delG																																																																																					0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		14	59	NA	NA	NA	NA	NA	14	59	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36241515	36241515	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:36241515delC	ENST00000400445.3	+	56	8940	c.8406delC	c.(8404-8406)ggcfs	p.G2802fs	NBEA_ENST00000379922.3_Frame_Shift_Del_p.G380fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.G2802fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.G2802fs|NBEA_ENST00000537702.1_Frame_Shift_Del_p.G595fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.G2799fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2802					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGCAGAGGGCCCTTGCCTTG	0.542																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(8404-8406)GGCfs		neurobeachin							80.0	85.0	83.0					13																	36241515		2061	4202	6263	SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36241515delC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8406delC	13.37:g.36241515delC	ENSP00000383295:p.Gly2802fs					NBEA_uc010abi.2_Frame_Shift_Del_p.G1460fs|NBEA_uc010tef.1_Frame_Shift_Del_p.G595fs|NBEA_uc001uvd.2_Frame_Shift_Del_p.G380fs	p.G2802fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	56	8612	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2802			WD 3.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	c.8406delC	CCDS45026.1																																																																																				0.542	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		36	85	NA	NA	NA	NA	NA	36	85	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20979139	20979139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20979139delC	ENST00000328444.5	+	1	528	c.509delC	c.(508-510)tccfs	p.S170fs	RNASE10_ENST00000430083.1_Frame_Shift_Del_p.S198fs	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	170					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CACAAAAGCTCCCGACCTTTT	0.428																																							uc010tlj.1		NA																	0					0						c.(508-510)TCCfs		ribonuclease, RNase A family, 10 (non-active)							90.0	78.0	82.0					14																	20979139		2203	4300	6503	SO:0001589	frameshift_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979139delC		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.509delC	14.37:g.20979139delC	ENSP00000333358:p.Ser170fs					RNASE10_uc001vxp.2_Frame_Shift_Del_p.S198fs	p.S170fs	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	509	+	all_cancers(95;0.00123)		170					A2RUQ3|B4DKY4	Frame_Shift_Del	DEL	ENST00000328444.5	37	c.509delC	CCDS32035.1																																																																																				0.428	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		12	109	NA	NA	NA	NA	NA	12	109	---	---	---	---
HHIPL1	84439	broad.mit.edu	37	14	100118789	100118790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:100118789_100118790insT	ENST00000330710.5	+	2	582_583	c.484_485insT	c.(484-486)ctgfs	p.L162fs	HHIPL1_ENST00000357223.2_Frame_Shift_Ins_p.L162fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	162					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCCTTACCTGCTGGTCAACAAG	0.619																																							uc010avs.2		NA																	0				skin(2)	2						c.(484-486)CTGfs		HHIP-like protein 1 isoform a																																				SO:0001589	frameshift_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118789_100118790insT	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.485dupT	14.37:g.100118790_100118790dupT	ENSP00000330601:p.Leu162fs					HHIPL1_uc001ygl.1_Frame_Shift_Ins_p.L162fs	p.L162fs	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	549_550	+		Melanoma(154;0.128)	162					A2RUF8|B2RN09|Q6UXX2	Frame_Shift_Ins	INS	ENST00000330710.5	37	c.484_485insT	CCDS45162.1																																																																																				0.619	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		28	117	NA	NA	NA	NA	NA	28	117	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65686760	65686760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65686760delA	ENST00000352385.2	-	9	1912	c.1703delT	c.(1702-1704)ttgfs	p.L568fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	568	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCCTTTCCCAAACCGTATTC	0.602																																							uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1702-1704)TTGfs		immunoglobulin superfamily, DCC subclass, member							200.0	185.0	190.0					15																	65686760		2201	4299	6500	SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65686760delA		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1703delT	15.37:g.65686760delA	ENSP00000319623:p.Leu568fs					IGDCC4_uc002aot.1_Frame_Shift_Del_p.L156fs	p.L568fs	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			9	1913	-			568			Fibronectin type-III 2.|Extracellular (Potential).		Q9HCE4	Frame_Shift_Del	DEL	ENST00000352385.2	37	c.1703delT	CCDS10206.1																																																																																				0.602	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		50	488	NA	NA	NA	NA	NA	50	488	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858253	9858253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9858253delT	ENST00000396573.2	-	14	3457	c.3148delA	c.(3148-3150)aggfs	p.R1050fs	GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000535259.1_Frame_Shift_Del_p.R893fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.R1050fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1050					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAAGATACCTAGGGCTCTTT	0.507																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3148-3150)AGGfs		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						133.0	139.0	137.0					16																	9858253		2197	4300	6497	SO:0001589	frameshift_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858253delT		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3148delA	16.37:g.9858253delT	ENSP00000379818:p.Arg1050fs					GRIN2A_uc010uym.1_Frame_Shift_Del_p.R1050fs|GRIN2A_uc010uyn.1_Frame_Shift_Del_p.R893fs|GRIN2A_uc002czr.3_Frame_Shift_Del_p.R1050fs	p.R1050fs	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3696	-			1050			Cytoplasmic (Potential).		O00669|Q17RZ6	Frame_Shift_Del	DEL	ENST00000396573.2	37	c.3148delA	CCDS10539.1																																																																																				0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			96	334	NA	NA	NA	NA	NA	96	334	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21747674	21747675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21747674_21747675insA	ENST00000286149.4	+	21	2437_2438	c.2436_2437insA	c.(2437-2439)agcfs	p.S813fs	OTOA_ENST00000388956.4_Frame_Shift_Ins_p.S720fs|OTOA_ENST00000388958.3_Frame_Shift_Ins_p.S799fs|OTOA_ENST00000388957.3_Frame_Shift_Ins_p.S475fs			Q7RTW8	OTOAN_HUMAN	otoancorin	813					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTTCGGAACAGCAGTGATAA	0.495																																							uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2392-2397)AACAGCfs		otoancorin isoform 1																																				SO:0001589	frameshift_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21747674_21747675insA	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2437dupA	16.37:g.21747675_21747675dupA	ENSP00000286149:p.Ser813fs					uc002diq.3_Intron|OTOA_uc010vbj.1_Frame_Shift_Ins_p.N719fs|OTOA_uc002dji.2_Frame_Shift_Ins_p.N474fs|OTOA_uc010vbk.1_Frame_Shift_Ins_p.N446fs	p.N798fs	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	21	2395_2396	+			812_813					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Frame_Shift_Ins	INS	ENST00000286149.4	37	c.2394_2395insA																																																																																					0.495	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			44	142	NA	NA	NA	NA	NA	44	142	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11738155	11738155	+	Frame_Shift_Del	DEL	C	C	-	rs372884488		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:11738155delC	ENST00000262442.4	+	49	9515	c.9447delC	c.(9445-9447)gacfs	p.D3149fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.D3149fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3149	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGAGGAGGACCTGGCAAAGG	0.557																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9445-9447)GACfs		dynein, axonemal, heavy chain 9 isoform 2							145.0	101.0	116.0					17																	11738155		2203	4300	6503	SO:0001589	frameshift_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.chr17:11738155delC	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.9447delC	17.37:g.11738155delC	ENSP00000262442:p.Asp3149fs					DNAH9_uc010coo.2_Frame_Shift_Del_p.D2443fs	p.D3149fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9515	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3149			Stalk (By similarity).|Potential.		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	ENST00000262442.4	37	c.9447delC	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	34	NA	NA	NA	NA	NA	12	34	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60609095	60609095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60609095delC	ENST00000262719.5	+	11	3339	c.3105delC	c.(3103-3105)cacfs	p.H1035fs	PHLPP1_ENST00000400316.4_Frame_Shift_Del_p.H523fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1035					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TAACGGGACACCCCCATTTGA	0.438																																							uc002lis.2		NA																	0					0						c.(1567-1569)CACfs		PH domain and leucine rich repeat protein							72.0	68.0	69.0					18																	60609095		1880	4112	5992	SO:0001589	frameshift_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60609095delC	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3105delC	18.37:g.60609095delC	ENSP00000262719:p.His1035fs						p.H523fs	NM_194449	NP_919431	O60346	PHLP1_HUMAN			12	1747	+			1035					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Del	DEL	ENST00000262719.5	37	c.1569delC	CCDS45881.2																																																																																				0.438	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		8	72	NA	NA	NA	NA	NA	8	72	---	---	---	---
CABP5	56344	broad.mit.edu	37	19	48542528	48542528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:48542528delG	ENST00000293255.2	-	4	415	c.285delC	c.(283-285)cccfs	p.P95fs		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	95	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CAAGCAATTTGGGGGTCATCA	0.532																																							uc002phu.1		NA																	0				skin(1)	1						c.(283-285)CCCfs		calcium binding protein 5							188.0	135.0	153.0					19																	48542528		2203	4300	6503	SO:0001589	frameshift_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48542528delG	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.285delC	19.37:g.48542528delG	ENSP00000293255:p.Pro95fs						p.P95fs	NM_019855	NP_062829	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	4	410	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	95			EF-hand 2.		A0AUY4	Frame_Shift_Del	DEL	ENST00000293255.2	37	c.285delC	CCDS12709.1																																																																																				0.532	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		41	146	NA	NA	NA	NA	NA	41	146	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566685	136566685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:136566685delC	ENST00000264162.2	-	8	3242	c.3232delG	c.(3232-3234)gaafs	p.E1078fs	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1078	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGGGGAAATTCCCCTGAGCCA	0.507																																							uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3232-3234)GAAfs		lactase-phlorizin hydrolase preproprotein							35.0	38.0	37.0					2																	136566685		2203	4300	6503	SO:0001589	frameshift_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566685delC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3232delG	2.37:g.136566685delC	ENSP00000264162:p.Glu1078fs						p.E1078fs	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3243	-			1078			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Frame_Shift_Del	DEL	ENST00000264162.2	37	c.3232delG	CCDS2178.1																																																																																				0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		10	101	NA	NA	NA	NA	NA	10	101	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457285	179457285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179457285delG	ENST00000591111.1	-	251	54748	c.54524delC	c.(54523-54525)ccafs	p.P18175fs	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P10943fs|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P10876fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P10751fs|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.P19816fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P17248fs			Q8WZ42	TITIN_HUMAN	titin	18175	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTACTTTTGGGAATGGCAC	0.418																																							uc010zfg.1		NA																	0				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.(51742-51744)CCAfs		titin isoform N2-A							267.0	243.0	251.0					2																	179457285		1892	4104	5996	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457285delG	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.54524delC	2.37:g.179457285delG	ENSP00000465570:p.Pro18175fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.P10943fs|TTN_uc010zfi.1_Frame_Shift_Del_p.P10876fs|TTN_uc010zfj.1_Frame_Shift_Del_p.P10751fs	p.P17248fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	51967	-			18175					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.51743delC																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	229	NA	NA	NA	NA	NA	21	229	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187627476	187627476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187627476delC	ENST00000304698.5	+	8	2610	c.2407delC	c.(2407-2409)ccafs	p.P803fs		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	803						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGCAGACCACCACTAGCCAA	0.473																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2407-2409)CCAfs		KIAA1946							68.0	66.0	67.0					2																	187627476		2203	4299	6502	SO:0001589	frameshift_variant	165215					integral to membrane	DNA binding	g.chr2:187627476delC	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2407delC	2.37:g.187627476delC	ENSP00000304108:p.Pro803fs					FAM171B_uc002upr.1_Frame_Shift_Del_p.P770fs|FAM171B_uc002upt.2_Frame_Shift_Del_p.P272fs	p.P803fs	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2519	+			803			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Frame_Shift_Del	DEL	ENST00000304698.5	37	c.2407delC	CCDS33347.1																																																																																				0.473	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		9	45	NA	NA	NA	NA	NA	9	45	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189898877	189898877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:189898877delG	ENST00000374866.3	-	54	4693	c.4419delC	c.(4417-4419)cccfs	p.P1473fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1473	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATCTATGATGGGCAAGCGTG	0.438																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(4417-4419)CCCfs		alpha 2 type V collagen preproprotein							138.0	113.0	121.0					2																	189898877		2203	4300	6503	SO:0001589	frameshift_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189898877delG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4419delC	2.37:g.189898877delG	ENSP00000364000:p.Pro1473fs					COL5A2_uc010frx.2_Frame_Shift_Del_p.P1049fs	p.P1473fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		54	4694	-			1473			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Del	DEL	ENST00000374866.3	37	c.4419delC	CCDS33350.1																																																																																				0.438	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		11	61	NA	NA	NA	NA	NA	11	61	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209028143	209028143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:209028143delG	ENST00000304502.4	-	2	56	c.37delC	c.(37-39)cagfs	p.Q13fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	13	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGCGACCCTGAAAGTCTCGG	0.542																																							uc002vcq.3		NA																	0					0						c.(37-39)CAGfs		crystallin, gamma A							133.0	119.0	124.0					2																	209028143		2203	4300	6503	SO:0001589	frameshift_variant	1418				visual perception		structural constituent of eye lens	g.chr2:209028143delG		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.37delC	2.37:g.209028143delG	ENSP00000302105:p.Gln13fs						p.Q13fs	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	54	-			13			Beta/gamma crystallin 'Greek key' 1.		Q53ST5	Frame_Shift_Del	DEL	ENST00000304502.4	37	c.37delC	CCDS33367.1																																																																																				0.542	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		22	90	NA	NA	NA	NA	NA	22	90	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218749786	218749786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:218749786delC	ENST00000171887.4	-	14	1295	c.843delG	c.(841-843)gggfs	p.G281fs	TNS1_ENST00000430930.1_Frame_Shift_Del_p.G281fs|TNS1_ENST00000310858.6_Frame_Shift_Del_p.G312fs|TNS1_ENST00000419504.1_Frame_Shift_Del_p.G281fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	281	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTCCTCCTTCCCAAAGACAA	0.567																																							uc002vgt.2		NA																	0				ovary(3)|breast(1)	4						c.(841-843)GGGfs		tensin							130.0	107.0	115.0					2																	218749786		2203	4300	6503	SO:0001589	frameshift_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218749786delC	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.843delG	2.37:g.218749786delC	ENSP00000171887:p.Gly281fs					TNS1_uc002vgr.2_Frame_Shift_Del_p.G281fs|TNS1_uc002vgs.2_Frame_Shift_Del_p.G281fs|TNS1_uc010zjv.1_Frame_Shift_Del_p.G281fs|TNS1_uc010fvj.1_Frame_Shift_Del_p.G349fs|TNS1_uc010fvk.1_Frame_Shift_Del_p.G406fs|TNS1_uc002vgu.3_Frame_Shift_Del_p.G312fs|TNS1_uc010fvi.1_5'UTR	p.G281fs	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	14	1241	-		Renal(207;0.0483)|Lung NSC(271;0.213)	281			C2 tensin-type.		Q4ZG71|Q6IPI5	Frame_Shift_Del	DEL	ENST00000171887.4	37	c.843delG	CCDS2407.1																																																																																				0.567	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		21	127	NA	NA	NA	NA	NA	21	127	---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28210056	28210056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:28210056delC	ENST00000284984.3	-	9	3200	c.2746delG	c.(2746-2748)gagfs	p.E916fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	916	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GATGACCACTCCCCCAGCTGC	0.522																																							uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2746-2748)GAGfs		ADAM metallopeptidase with thrombospondin type 1							101.0	104.0	103.0					21																	28210056		2203	4300	6503	SO:0001589	frameshift_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210056delC	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2746delG	21.37:g.28210056delC	ENSP00000284984:p.Glu916fs						p.E916fs	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3201	-		Breast(209;0.000962)	916			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Frame_Shift_Del	DEL	ENST00000284984.3	37	c.2746delG	CCDS33524.1																																																																																				0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			11	172	NA	NA	NA	NA	NA	11	172	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28296484	28296484	+	Frame_Shift_Del	DEL	C	C	-	rs199588797		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:28296484delC	ENST00000284987.5	-	8	2802	c.2681delG	c.(2680-2682)ggtfs	p.G894fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	894	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGTGTGCCAACCTGTGTCACA	0.547																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2680-2682)GGTfs		ADAM metallopeptidase with thrombospondin type 1							90.0	78.0	82.0					21																	28296484		2203	4300	6503	SO:0001589	frameshift_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296484delC	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.2681delG	21.37:g.28296484delC	ENSP00000284987:p.Gly894fs						p.G894fs	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3410	-			894			TSP type-1 2.		Q52LV4|Q9UKP2	Frame_Shift_Del	DEL	ENST00000284987.5	37	c.2681delG	CCDS13579.1																																																																																				0.547	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			14	101	NA	NA	NA	NA	NA	14	101	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(1759-1764)GCCTCC>GCC		TRIO and F-actin binding protein isoform 6																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120323_38120325delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					TRIOBP_uc003atu.2_In_Frame_Del_p.S417del|TRIOBP_uc003atq.1_In_Frame_Del_p.S589del|TRIOBP_uc003ats.1_In_Frame_Del_p.S417del	p.S589del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2031_2033	+	Melanoma(58;0.0574)		589					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	265	NA	NA	NA	NA	NA	7	265	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98530083	98530083	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:98530083delT	ENST00000326840.6	-	12	1893	c.1531delA	c.(1531-1533)agtfs	p.S511fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.S511fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	511					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ATATCAGGACTGGCAGTTGTT	0.388																																							uc003dtd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1531-1533)AGTfs		discoidin, CUB and LCCL domain containing 2							185.0	175.0	178.0					3																	98530083		1884	4112	5996	SO:0001589	frameshift_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98530083delT		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1531delA	3.37:g.98530083delT	ENSP00000321573:p.Ser511fs					DCBLD2_uc003dte.2_Frame_Shift_Del_p.S511fs	p.S511fs	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			12	1894	-			511			Extracellular (Potential).		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Frame_Shift_Del	DEL	ENST00000326840.6	37	c.1531delA	CCDS46878.1																																																																																				0.388	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		37	125	NA	NA	NA	NA	NA	37	125	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390299	22390299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:22390299delC	ENST00000334304.5	-	19	3264	c.2995delG	c.(2995-2997)gccfs	p.A999fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	999					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTAAGGCTGGCCCCCAAGAGC	0.408																																							uc003gqm.1		NA																	0				skin(1)	1						c.(2995-2997)GCCfs		G protein-coupled receptor 125 precursor							95.0	99.0	98.0					4																	22390299		2203	4300	6503	SO:0001589	frameshift_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390299delC	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2995delG	4.37:g.22390299delC	ENSP00000334952:p.Ala999fs					GPR125_uc010ieo.1_Frame_Shift_Del_p.A855fs|GPR125_uc003gql.1_Frame_Shift_Del_p.A126fs	p.A999fs	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3260	-		Breast(46;0.198)	999			Helical; Name=6; (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Del	DEL	ENST00000334304.5	37	c.2995delG	CCDS33964.1																																																																																				0.408	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			15	76	NA	NA	NA	NA	NA	15	76	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109740455	109740455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:109740455delC	ENST00000399132.1	-	36	2406	c.1876delG	c.(1876-1878)gagfs	p.E626fs		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGGCCTGGCTCCCCTTTTTCC	0.458																																							uc003hze.1		NA																	0				ovary(2)	2						c.(1876-1878)GAGfs		collagen, type XXV, alpha 1 isoform 1							74.0	78.0	77.0					4																	109740455		1893	4111	6004	SO:0001589	frameshift_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740455delC	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1876delG	4.37:g.109740455delC	ENSP00000382083:p.Glu626fs					COL25A1_uc003hzd.2_Intron	p.E626fs	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	35	2407	-		Hepatocellular(203;0.217)	626			Extracellular (Potential).|Collagen-like 7.			Frame_Shift_Del	DEL	ENST00000399132.1	37	c.1876delG	CCDS43258.1																																																																																				0.458	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		9	97	NA	NA	NA	NA	NA	9	97	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	164507009	164507009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:164507009delA	ENST00000503008.1	-	6	1291	c.315delT	c.(313-315)tttfs	p.F105fs	MARCH1_ENST00000339875.5_Frame_Shift_Del_p.F88fs|MARCH1_ENST00000274056.7_Frame_Shift_Del_p.F105fs|MARCH1_ENST00000514618.1_Frame_Shift_Del_p.F361fs	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	105					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)			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)				ACTGGTGGACAAAGCGCAGTG	0.537																																							uc003iqs.1		NA																	0				lung(2)	2						c.(313-315)TTTfs		membrane-associated RING-CH protein I							99.0	90.0	93.0					4																	164507009		2203	4300	6503	SO:0001589	frameshift_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164507009delA	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.315delT	4.37:g.164507009delA	ENSP00000427223:p.Phe105fs					MARCH1_uc003iqr.1_Frame_Shift_Del_p.F88fs	p.F105fs	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			6	1292	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	105			RING-CH-type.		D3DP29|Q9NWR0	Frame_Shift_Del	DEL	ENST00000503008.1	37	c.315delT	CCDS54814.1																																																																																				0.537	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		7	60	NA	NA	NA	NA	NA	7	60	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71493968	71493976	+	In_Frame_Del	DEL	CAAACACCT	CAAACACCT	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CAAACACCT	CAAACACCT	-	-	CAAACACCT	CAAACACCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:71493968_71493976delCAAACACCT	ENST00000296755.7	+	5	5084_5092	c.4786_4794delCAAACACCT	c.(4786-4794)caaacacctdel	p.QTP1596del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCTGTTGTGCAAACACCTACCACATTCC	0.464																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4786-4794)CAAACACCTdel		microtubule-associated protein 1B																																				SO:0001651	inframe_deletion	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493968_71493976delCAAACACCT	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4786_4794delCAAACACCT	5.37:g.71493968_71493976delCAAACACCT	ENSP00000296755:p.Gln1596_Pro1598del					MAP1B_uc010iyw.1_In_Frame_Del_p.QTP1613del|MAP1B_uc010iyx.1_In_Frame_Del_p.QTP1470del|MAP1B_uc010iyy.1_In_Frame_Del_p.QTP1470del	p.QTP1596del	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5027_5035	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1596_1598					A2BDK5	In_Frame_Del	DEL	ENST00000296755.7	37	c.4786_4794delCAAACACCT	CCDS4012.1																																																																																				0.464	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	175	NA	NA	NA	NA	NA	7	175	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	CTTCT	CTTCT	-	-	CTTCT	CTTCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																							uc003rtl.3		NA																	0					0						c.(406-414)GACTTCTCTfs		Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038).																																						3137							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA	p.D136fs							5	770_774	+									Frame_Shift_Del	DEL	ENST00000376797.3	37	c.408_412delCTTCT																																																																																					0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		8	48	NA	NA	NA	NA	NA	8	48	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																							uc003nyv.2		NA																	0				skin(4)	4						c.(52-54)CGGfs		serine/threonine kinase 19 isoform 2																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	p.R18fs	NM_032454	NP_115830	P49842	STK19_HUMAN			1	180_181	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			12	383	NA	NA	NA	NA	NA	12	383	---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84799172	84799172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:84799172delC	ENST00000257776.4	+	4	725	c.590delC	c.(589-591)tccfs	p.S197fs		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	197					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGCCACTTTCCCAGACCTCA	0.423																																							uc003pkg.3		NA																	0				skin(2)	2						c.(589-591)TCCfs		melanocortin 2 receptor accessory protein 2							100.0	106.0	104.0					6																	84799172		2203	4300	6503	SO:0001589	frameshift_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799172delC	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.590delC	6.37:g.84799172delC	ENSP00000257776:p.Ser197fs					MRAP2_uc010kbo.2_Frame_Shift_Del_p.S111fs	p.S197fs	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			4	780	+			197					A8K9M1|Q8IXM9|Q8N2D1	Frame_Shift_Del	DEL	ENST00000257776.4	37	c.590delC	CCDS5001.1																																																																																				0.423	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		40	144	NA	NA	NA	NA	NA	40	144	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94185070	94185070	+	Stop_Codon_Del	DEL	G	G	-	rs568608883		TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:94185070delG	ENST00000297273.4	+	0	2681					NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAACATTAGGTTCCAAAAA	0.328																																							uc003uni.3		NA																	0				ovary(2)	2						c.(2392-2394)TAGfs		CAS1 domain containing 1 precursor							59.0	63.0	61.0					7																	94185070		2203	4299	6502	SO:0001567	stop_retained_variant	64921					integral to membrane		g.chr7:94185070delG	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	Exception_encountered	7.37:g.94185070delG						CASD1_uc003unj.3_Frame_Shift_Del_p.*798fs	p.*798fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	2621	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		798					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Frame_Shift_Del	DEL	ENST00000297273.4	37	c.2394delG	CCDS5636.1																																																																																				0.328	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		7	67	NA	NA	NA	NA	NA	7	67	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146741063	146741063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:146741063delC	ENST00000361727.3	+	4	983	c.467delC	c.(466-468)gccfs	p.A156fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGATTATTGCCCGCTATGTG	0.428										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(466-468)GCCfs		cell recognition molecule Caspr2 precursor							188.0	164.0	172.0					7																	146741063		2203	4300	6503	SO:0001589	frameshift_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741063delC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.467delC	7.37:g.146741063delC	ENSP00000354778:p.Ala156fs	HNSCC(39;0.1)					p.A156fs	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	983	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	156			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Frame_Shift_Del	DEL	ENST00000361727.3	37	c.467delC	CCDS5889.1																																																																																				0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	119	NA	NA	NA	NA	NA	12	119	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956441	143956442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:143956441_143956442insT	ENST00000292427.4	-	8	1361_1362	c.1329_1330insA	c.(1327-1332)tttggcfs	p.G444fs	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Frame_Shift_Ins_p.G515fs	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	444					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ATGCCAAAGCCAAAGGGCACGT	0.673									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	0				ovary(3)	3						c.(1327-1332)TTTGGCfs		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)																																			SO:0001589	frameshift_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956441_143956442insT	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1329_1330insA	8.37:g.143956441_143956442insT	ENSP00000292427:p.Gly444fs					CYP11B1_uc010mex.2_Frame_Shift_Ins_p.F142fs|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Frame_Shift_Ins_p.F514fs	p.F443fs	NM_000497	NP_000488	P15538	C11B1_HUMAN			8	1336_1337	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		443_444					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Frame_Shift_Ins	INS	ENST00000292427.4	37	c.1329_1330insA	CCDS6392.1																																																																																				0.673	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			15	173	NA	NA	NA	NA	NA	15	173	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117783521	117783521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:117783521delC	ENST00000350763.4	-	28	6932	c.6521delG	c.(6520-6522)ggcfs	p.G2174fs	TNC_ENST00000535648.1_Frame_Shift_Del_p.G1719fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.G1537fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.G1810fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.G1901fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.G1628fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.G1811fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.G1537fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.G1992fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2174	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGTTCGTGGCCCTTCCAGTG	0.483																																							uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(6520-6522)GGCfs		tenascin C precursor							114.0	102.0	106.0					9																	117783521		2203	4300	6503	SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783521delC		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6521delG	9.37:g.117783521delC	ENSP00000265131:p.Gly2174fs					TNC_uc010mvf.2_Frame_Shift_Del_p.G1901fs	p.G2174fs	NM_002160	NP_002151	P24821	TENA_HUMAN			28	6883	-			2174			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	c.6521delG	CCDS6811.1																																																																																				0.483	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	94	NA	NA	NA	NA	NA	11	94	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130511788	130511789	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:130511788_130511789delTG	ENST00000314830.8	-	5	953_954	c.840_841delCA	c.(838-843)cacatcfs	p.I281fs	SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.I121fs|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.I123fs|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.I213fs|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.I124fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	281	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTACTGGATGTGTGTGTAGC	0.599																																							uc004bsc.2		NA																	0				ovary(1)	1						c.(838-843)CACATCfs		SH2 domain containing 3C isoform a																																				SO:0001589	frameshift_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511788_130511789delTG	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.840_841delCA	9.37:g.130511794_130511795delTG	ENSP00000317817:p.Ile281fs					SH2D3C_uc010mxo.2_Frame_Shift_Del_p.H120fs|SH2D3C_uc004bry.2_Frame_Shift_Del_p.H122fs|SH2D3C_uc004brz.3_5'UTR|SH2D3C_uc011mak.1_5'UTR|SH2D3C_uc004bsa.2_Frame_Shift_Del_p.H123fs|SH2D3C_uc004bsb.2_Frame_Shift_Del_p.H212fs	p.H280fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			5	982_983	-			280_281			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Frame_Shift_Del	DEL	ENST00000314830.8	37	c.840_841delCA	CCDS6877.1																																																																																				0.599	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		8	55	NA	NA	NA	NA	NA	8	55	---	---	---	---
ITGB1BP2	26548	broad.mit.edu	37	X	70522270	70522271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:70522270_70522271insT	ENST00000373829.3	+	4	254_255	c.181_182insT	c.(181-183)atgfs	p.M61fs	ITGB1BP2_ENST00000538820.1_Frame_Shift_Ins_p.M43fs	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	61	CHORD 1. {ECO:0000255|PROSITE- ProRule:PRU00734}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GGGCTGTACTATGGGACCACAC	0.441																																							uc004dzr.1		NA																	0				ovary(1)	1						c.(181-183)ATGfs		integrin beta 1 binding protein 2																																				SO:0001589	frameshift_variant	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70522270_70522271insT	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.182dupT	X.37:g.70522271_70522271dupT	ENSP00000362935:p.Met61fs					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Frame_Shift_Ins_p.M43fs	p.M61fs	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			4	210_211	+	Renal(35;0.156)		61			CHORD 1.		Q32N04|Q549J7	Frame_Shift_Ins	INS	ENST00000373829.3	37	c.181_182insT	CCDS14411.1																																																																																				0.441	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		15	43	NA	NA	NA	NA	NA	15	43	---	---	---	---
FATE1	89885	broad.mit.edu	37	X	150885800	150885801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1265-08	TCGA-05-4382-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	005b918d-e4a9-4971-9588-656a35c33dec	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:150885800_150885801insA	ENST00000370350.3	+	2	248_249	c.163_164insA	c.(163-165)gaafs	p.E55fs		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	55						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTTGGAACAAAAAGCT	0.52																																							uc004fex.2		NA																	0				ovary(1)	1						c.(163-165)GAAfs		fetal and adult testis expressed transcript																																				SO:0001589	frameshift_variant	89885					endoplasmic reticulum|integral to membrane		g.chrX:150885800_150885801insA	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.165dupA	X.37:g.150885802_150885802dupA	ENSP00000359375:p.Glu55fs						p.E55fs	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			2	247_248	+	Acute lymphoblastic leukemia(192;6.56e-05)		55						Frame_Shift_Ins	INS	ENST00000370350.3	37	c.163_164insA	CCDS14700.1																																																																																				0.520	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		12	286	NA	NA	NA	NA	NA	12	286	---	---	---	---
