#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
CFAP74	85452	broad.mit.edu	37	1	1919949	1919949	+	Splice_Site	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:1919949A>T	ENST00000434971.2	-	4	329		c.e4+1					Q69YW0	CA222_HUMAN										p.?(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)		GCCCCAGCTCACCTCATCTTC	0.602																																							uc001aim.1		NA																	1	Unknown(1)		lung(1)	pancreas(1)	1						c.e4+1		hypothetical protein LOC85452							81.0	85.0	84.0					1																	1919949		2081	4226	6307	SO:0001630	splice_region_variant	85452							g.chr1:1919949A>T																												ENST00000434971.2:c.296+1T>A	1.37:g.1919949A>T						KIAA1751_uc009vkz.1_Splice_Site_p.R99_splice|KIAA1751_uc001ain.1_Splice_Site_p.R99_splice	p.R99_splice	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)	4	452	-	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)							Splice_Site	SNP	ENST00000434971.2	37	c.296_splice		.	.	.	.	.	.	.	.	.	.	A	7.228	0.598785	0.13939	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6732	0.40026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf222	1909809	0.998000	0.40836	0.983000	0.44433	0.235000	0.25334	3.324000	0.52022	1.718000	0.51419	0.374000	0.22700	.		0.602	C1orf222-201	KNOWN	basic	protein_coding	protein_coding			Intron	24	61	0	0	0	0.00278	0	24	61				
KIF1B	23095	broad.mit.edu	37	1	10342421	10342421	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:10342421G>C	ENST00000377086.1	+	15	1466	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P	KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.A422P|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	422					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATACTTGCTAGCCTCTGAGAA	0.473																																							uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1264-1266)GCC>CCC		kinesin family member 1B isoform b							88.0	83.0	84.0					1																	10342421		2203	4300	6503	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.chr1:10342421G>C	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.1264G>C	1.37:g.10342421G>C	ENSP00000366290:p.Ala422Pro					KIF1B_uc001aqv.3_Intron|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Missense_Mutation_p.A422P|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Missense_Mutation_p.A408P	p.A422P	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)	15	1466	+	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)	422					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.1264G>C		.	.	.	.	.	.	.	.	.	.	G	18.24	3.581301	0.65992	.	.	ENSG00000054523	ENST00000355249;ENST00000377086;ENST00000377081	T;T	0.73047	-0.71;-0.71	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	.	.	.	0.80722	D	1	B;D;B	0.71674	0.004;0.998;0.167	B;D;B	0.76071	0.003;0.987;0.04	T	0.80341	-0.1423	9	0.30854	T	0.27	.	19.5803	0.95464	0.0:0.0:1.0:0.0	.	408;422;422	Q4R9M9;Q4VXC4;O60333	.;.;KIF1B_HUMAN	P	422	ENSP00000366290:A422P;ENSP00000366284:A422P	ENSP00000347392:A422P	A	+	1	0	KIF1B	10265008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.810000	0.99221	2.713000	0.92767	0.650000	0.86243	GCC		0.473	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			8	120	0	0	0	0.00308	0	8	120				
PRDM2	7799	broad.mit.edu	37	1	14107413	14107413	+	Missense_Mutation	SNP	G	G	A	rs200419849		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:14107413G>A	ENST00000235372.7	+	8	3979	c.3123G>A	c.(3121-3123)atG>atA	p.M1041I	PRDM2_ENST00000343137.4_Missense_Mutation_p.M840I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M840I|PRDM2_ENST00000311066.5_Missense_Mutation_p.M1041I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1041	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.M1041I(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCCCTGATGTCTGCCGCCT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		15521	0.001		0.0	False		,,,				2504	0.0						uc001avi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3121-3123)ATG>ATA		retinoblastoma protein-binding zinc finger							78.0	68.0	72.0					1																	14107413		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107413G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3123G>A	1.37:g.14107413G>A	ENSP00000235372:p.Met1041Ile					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.M1041I|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.M840I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.M1041I	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3979	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1041			SH3-binding (Potential).|Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3123G>A	CCDS150.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.468	-0.560638	0.03939	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01446	5.01;4.88;4.9;4.9	5.97	3.01	0.34805	.	0.732047	0.14376	N	0.323481	T	0.01222	0.0040	N	0.08118	0	0.26816	N	0.968882	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.46428	-0.9192	10	0.34782	T	0.22	.	8.8909	0.35432	0.0868:0.4476:0.4657:0.0	.	899;1041;1041	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	I	1041;1041;1041;840;840	ENSP00000235372:M1041I;ENSP00000312352:M1041I;ENSP00000411103:M840I;ENSP00000341621:M840I	ENSP00000235372:M1041I	M	+	3	0	PRDM2	13980000	0.067000	0.21026	0.739000	0.30968	0.057000	0.15508	0.233000	0.17911	0.859000	0.35456	-0.140000	0.14226	ATG		0.562	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	48	0	0	0	0.00245	0	11	48				
DNAJC16	23341	broad.mit.edu	37	1	15888820	15888820	+	Splice_Site	SNP	G	G	A	rs369027459		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:15888820G>A	ENST00000375847.3	+	9	1502	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	DNAJC16_ENST00000375838.1_Splice_Site_p.A446A|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Splice_Site_p.A446A	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	446					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.A446A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAAATCAGCGGTAAGCCACA	0.478																																							uc001aws.2		NA																	1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|lung(1)|kidney(1)	3						c.(1336-1338)GCG>GCA		DnaJ (Hsp40) homolog, subfamily C, member 16		G		0,4406		0,0,2203	92.0	82.0	86.0		1338	4.9	1.0	1		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	DNAJC16	NM_015291.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		446/783	15888820	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15888820G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1338+1G>A	1.37:g.15888820G>A						DNAJC16_uc001awr.1_Silent_p.A446A|DNAJC16_uc001awt.2_Silent_p.A134A|DNAJC16_uc001awu.2_RNA	p.A446A	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1458	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	446			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	c.1338G>A	CCDS30606.1																																																																																				0.478	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	Silent	32	82	0	0	0	0.002096	0	32	82				
CROCC	9696	broad.mit.edu	37	1	17279852	17279852	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:17279852A>G	ENST00000375541.5	+	21	3131	c.3062A>G	c.(3061-3063)cAg>cGg	p.Q1021R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.Q1021R(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGTCAGCTGCAGCGTGAGCAG	0.692																																							uc001azt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(3061-3063)CAG>CGG		ciliary rootlet coiled-coil							11.0	12.0	12.0					1																	17279852		2183	4273	6456	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17279852A>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3062A>G	1.37:g.17279852A>G	ENSP00000364691:p.Gln1021Arg					CROCC_uc009voz.1_Missense_Mutation_p.Q620R|CROCC_uc001azu.2_Missense_Mutation_p.Q324R	p.Q1021R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	21	3131	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1021			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.3062A>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626302	0.28978	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09630	2.96	3.81	2.54	0.30619	.	.	.	.	.	T	0.09291	0.0229	L	0.42245	1.32	0.27551	N	0.950492	B;B;B	0.25312	0.027;0.02;0.123	B;B;B	0.18871	0.014;0.013;0.023	T	0.13019	-1.0525	9	0.38643	T	0.18	.	7.4481	0.27223	0.6269:0.3731:0.0:0.0	.	884;324;1021	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	R	1021;902	ENSP00000364691:Q1021R	ENSP00000364691:Q1021R	Q	+	2	0	CROCC	17152439	0.004000	0.15560	1.000000	0.80357	0.975000	0.68041	0.490000	0.22403	1.676000	0.50930	0.454000	0.30748	CAG		0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	5	0	0	0	0.000978	0	4	5				
PADI6	353238	broad.mit.edu	37	1	17714922	17714922	+	RNA	SNP	C	C	G	rs113151411	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:17714922C>G	ENST00000434762.2	+	0	776							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.H242Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCGACCAGCACGCCTATACCT	0.537																																							uc001bak.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(724-726)CAC>CAG		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						58.0	56.0	56.0					1																	17714922		1876	4106	5982			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17714922C>G	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17714922C>G							p.H242Q	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	7	726	+		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)	234					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.726C>G																																																																																					0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	30	0	0	0	0.000602	0	4	30				
PLA2G2F	64600	broad.mit.edu	37	1	20474888	20474888	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:20474888T>A	ENST00000375102.3	+	5	732	c.630T>A	c.(628-630)ccT>ccA	p.P210P		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	167					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.P210P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCCCGCCCCTCCCTAGAGCC	0.652																																							uc009vpp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(628-630)CCT>CCA		phospholipase A2, group IIF							27.0	31.0	29.0					1																	20474888		2203	4300	6503	SO:0001819	synonymous_variant	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20474888T>A	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.630T>A	1.37:g.20474888T>A							p.P210P	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	5	728	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	167					Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	c.630T>A	CCDS204.2																																																																																				0.652	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		8	36	0	0	0	0.006214	0	8	36				
KIF17	57576	broad.mit.edu	37	1	21009182	21009182	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:21009182C>A	ENST00000247986.2	-	11	2737	c.2427G>T	c.(2425-2427)cgG>cgT	p.R809R	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.R709R|KIF17_ENST00000400463.3_Silent_p.R809R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	809					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R809R(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTCTTGGCCCGCACTTCCT	0.632																																							uc001bdr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2425-2427)CGG>CGT		kinesin family member 17 isoform a							73.0	67.0	69.0					1																	21009182		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009182C>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2427G>T	1.37:g.21009182C>A						KIF17_uc001bdp.3_Silent_p.R87R|KIF17_uc001bdq.3_Silent_p.R87R|KIF17_uc009vpx.2_Silent_p.R179R|KIF17_uc001bds.3_Silent_p.R809R	p.R809R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2545	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	809			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2427G>T	CCDS213.1																																																																																				0.632	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		33	60	1	0	1.414e-09	0.003755	1.88005e-09	33	60				
HP1BP3	50809	broad.mit.edu	37	1	21071530	21071530	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:21071530C>A	ENST00000312239.5	-	13	1561	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Q322H|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	474	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q474H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGACCCTCTCTGCTTCACAG	0.537																																							uc001bdw.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1420-1422)CAG>CAT		HP1-BP74							107.0	106.0	107.0					1																	21071530		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071530C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1422G>T	1.37:g.21071530C>A	ENSP00000312625:p.Gln474His					HP1BP3_uc001bdv.1_Missense_Mutation_p.Q436H|HP1BP3_uc010odh.1_Missense_Mutation_p.Q436H|HP1BP3_uc001bdy.1_Missense_Mutation_p.Q474H|HP1BP3_uc010odf.1_Missense_Mutation_p.Q133H|HP1BP3_uc010odg.1_Missense_Mutation_p.Q322H	p.Q474H	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	13	1562	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	474			Lys-rich.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.1422G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880751	0.33255	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003	T;T	0.46451	0.87;0.88	5.74	0.65	0.17812	.	0.346678	0.33496	N	0.004853	T	0.25195	0.0612	N	0.24115	0.695	0.80722	D	1	P	0.37864	0.61	B	0.35550	0.205	T	0.04855	-1.0922	10	0.62326	D	0.03	-12.2451	9.0763	0.36525	0.0:0.5493:0.0:0.4507	.	474	Q5SSJ5	HP1B3_HUMAN	H	474;436;322	ENSP00000312625:Q474H;ENSP00000364142:Q322H	ENSP00000312625:Q474H	Q	-	3	2	HP1BP3	20944117	0.998000	0.40836	0.999000	0.59377	0.413000	0.31143	0.209000	0.17435	0.166000	0.19597	0.586000	0.80456	CAG		0.537	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		28	169	1	0	3.99451e-17	0.009535	6.01078e-17	28	169				
EPHA8	2046	broad.mit.edu	37	1	22915542	22915542	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:22915542G>T	ENST00000166244.3	+	5	1230	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	EPHA8_ENST00000374644.4_Silent_p.V386V|EPHA8_ENST00000538803.1_Silent_p.V386V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V386V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGCTTTGTGCCCCAGCAGA	0.662																																							uc001bfx.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1156-1158)GTG>GTT		ephrin receptor EphA8 isoform 1 precursor							24.0	21.0	22.0					1																	22915542		2202	4298	6500	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22915542G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1158G>T	1.37:g.22915542G>T						EPHA8_uc001bfw.2_Silent_p.V386V	p.V386V	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1283	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	386			Extracellular (Potential).|Fibronectin type-III 1.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1158G>T	CCDS225.1																																																																																				0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		6	20	1	0	8.12818e-05	0.001984	9.27259e-05	6	20				
SLC30A2	7780	broad.mit.edu	37	1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532																																							uc001blh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CGC>TGC		solute carrier family 30, member 2 isoform 2							140.0	137.0	138.0					1																	26371545		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371545G>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.214C>T	1.37:g.26371545G>A	ENSP00000363396:p.Arg72Cys					SLC30A2_uc001blg.1_Missense_Mutation_p.R72C	p.R72C	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	431	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	72			Cytoplasmic (Potential).		Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.214C>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549061	0.86127	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.68025	-0.3;-0.3	5.73	3.81	0.43845	.	0.081519	0.52532	D	0.000073	T	0.76521	0.3999	M	0.68593	2.085	0.80722	D	1	D;D	0.62365	0.991;0.978	P;P	0.58077	0.75;0.832	T	0.79186	-0.1907	10	0.87932	D	0	-15.4878	14.9558	0.71113	0.0:0.0:0.8057:0.1943	.	72;72	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	C	72	ENSP00000363396:R72C;ENSP00000363394:R72C	ENSP00000363394:R72C	R	-	1	0	SLC30A2	26244132	0.962000	0.33011	0.995000	0.50966	0.851000	0.48451	1.625000	0.37029	0.720000	0.32209	0.655000	0.94253	CGC		0.532	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		8	231	0	0	0	0.004482	0	8	231				
CNKSR1	10256	broad.mit.edu	37	1	26509068	26509068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:26509068G>T	ENST00000374253.5	+	6	656	c.617G>T	c.(616-618)aGt>aTt	p.S206I	CNKSR1_ENST00000361530.6_Missense_Mutation_p.S206I|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	206	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.S206I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGGACAGTCCATTGGTG	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)	NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(616-618)AGT>ATT		connector enhancer of kinase suppressor of Ras							75.0	69.0	71.0					1																	26509068		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26509068G>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.617G>T	1.37:g.26509068G>T	ENSP00000363371:p.Ser206Ile					CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.S206I|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	p.S206I	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	6	675	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	206			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.617G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.668|8.668	0.902127|0.902127	0.17760|0.17760	.|.	.|.	ENSG00000142675|ENSG00000142675	ENST00000422547|ENST00000361530;ENST00000374253	.|T;T	.|0.15017	.|2.46;2.46	4.47|4.47	2.14|2.14	0.27477|0.27477	.|PDZ/DHR/GLGF (1);	.|0.617190	.|0.16862	.|N	.|0.196480	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	0.999992|0.999992	.|B;B	.|0.20671	.|0.047;0.047	.|B;B	.|0.11329	.|0.006;0.004	T|T	0.27640|0.27640	-1.0068|-1.0068	6|10	0.66056|0.51188	D|T	0.02|0.08	-0.0036|-0.0036	4.0662|4.0662	0.09861|0.09861	0.6396:0.2421:0.1182:0.0|0.6396:0.2421:0.1182:0.0	.|.	.|206;206	.|Q969H4;Q53GM7	.|CNKR1_HUMAN;.	H|I	193|206	.|ENSP00000354609:S206I;ENSP00000363371:S206I	ENSP00000390945:Q193H|ENSP00000354609:S206I	Q|S	+|+	3|2	2|0	CNKSR1|CNKSR1	26381655|26381655	0.000000|0.000000	0.05858|0.05858	0.240000|0.240000	0.24138|0.24138	0.553000|0.553000	0.35397|0.35397	0.249000|0.249000	0.18216|0.18216	0.265000|0.265000	0.21872|0.21872	-0.312000|-0.312000	0.09012|0.09012	CAG|AGT		0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		13	25	1	0	6.31663e-08	0.003163	7.95241e-08	13	25				
GJB4	127534	broad.mit.edu	37	1	35227242	35227242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:35227242G>A	ENST00000339480.1	+	2	757	c.387G>A	c.(385-387)tgG>tgA	p.W129*	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	129					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.W129*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACTGTGGTGGACGTACTTGC	0.607																																							uc001bxv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(385-387)TGG>TGA		gap junction protein, beta 4							101.0	74.0	83.0					1																	35227242		2203	4300	6503	SO:0001587	stop_gained	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227242G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.387G>A	1.37:g.35227242G>A	ENSP00000345868:p.Trp129*					GJB4_uc001bxw.3_Nonsense_Mutation_p.W129*	p.W129*	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	757	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	129			Helical; (Potential).		B3KQ82	Nonsense_Mutation	SNP	ENST00000339480.1	37	c.387G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	38	6.727329	0.97792	.	.	ENSG00000189433	ENST00000339480	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5129	0.95151	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000345868:W129X	W	+	3	0	GJB4	34999829	1.000000	0.71417	0.999000	0.59377	0.678000	0.39670	7.709000	0.84645	2.722000	0.93159	0.655000	0.94253	TGG		0.607	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		20	48	0	0	0	0.010504	0	20	48				
HIVEP3	59269	broad.mit.edu	37	1	41978593	41978593	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:41978593C>A	ENST00000372583.1	-	8	7184	c.6299G>T	c.(6298-6300)gGg>gTg	p.G2100V	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2100V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2100V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2100V|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2100	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G2100V(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCATGCTCCCCCGCTGAGGG	0.701																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6298-6300)GGG>GTG		human immunodeficiency virus type I enhancer							14.0	14.0	14.0					1																	41978593		2182	4270	6452	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978593C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6299G>T	1.37:g.41978593C>A	ENSP00000361664:p.Gly2100Val					HIVEP3_uc001cha.3_Missense_Mutation_p.G2100V|HIVEP3_uc001cgy.2_RNA	p.G2100V	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	7512	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2100			6 X 4 AA tandem repeats of S-P-X-[RK].		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6299G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	2.180	-0.387744	0.04932	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06068	3.36;3.35;3.35;3.36	3.73	-1.91	0.07641	.	0.853563	0.10159	N	0.708592	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.26809	0.16;0.099	B;B	0.24155	0.051;0.023	T	0.45454	-0.9260	10	0.29301	T	0.29	-0.7339	4.6248	0.12472	0.0:0.1903:0.3346:0.4751	.	2100;2100	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2100	ENSP00000361665:G2100V;ENSP00000361664:G2100V;ENSP00000247584:G2100V;ENSP00000410828:G2100V	ENSP00000247584:G2100V	G	-	2	0	HIVEP3	41751180	0.003000	0.15002	0.000000	0.03702	0.049000	0.14656	0.264000	0.18497	-0.252000	0.09528	0.655000	0.94253	GGG		0.701	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		5	11	1	0	0.00198382	0.001984	0.00213469	5	11				
ST3GAL3	6487	broad.mit.edu	37	1	44386499	44386499	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:44386499G>T	ENST00000361392.4	+	11	1114	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.G328C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.G282C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.G351C|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.G351C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.G382C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.G297C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.G283C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.G282C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.G382C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	313					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.G382C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GGCACTACACGGCTGTGACGA	0.577																																							uc001ckc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(937-939)GGC>TGC		sialyltransferase 6 isoform j							113.0	85.0	95.0					1																	44386499		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386499G>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.937G>T	1.37:g.44386499G>T	ENSP00000355341:p.Gly313Cys					ST3GAL3_uc001cjz.2_Missense_Mutation_p.G328C|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.G382C|ST3GAL3_uc001ckd.2_Missense_Mutation_p.G367C|ST3GAL3_uc001cke.2_Missense_Mutation_p.G297C|ST3GAL3_uc001ckf.2_Missense_Mutation_p.G351C|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.G283C|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.G282C|ST3GAL3_uc009vwy.2_Missense_Mutation_p.G219C|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.G87C|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.G100C|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	p.G313C	NM_006279	NP_006270	Q11203	SIAT6_HUMAN			11	1114	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	313			Lumenal (Potential).		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.937G>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300585	0.60195	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000332628	T;T;T;T;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;1.57;1.57;1.57;1.57	4.76	2.44	0.29823	.	0.220299	0.44483	D	0.000443	T	0.24774	0.0601	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.997;0.993;0.996;0.998;0.996;0.994;0.985;0.999	D;D;P;D;D;D;D;P;D	0.66979	0.913;0.913;0.874;0.931;0.913;0.931;0.923;0.893;0.948	T	0.15150	-1.0447	10	0.42905	T	0.14	.	2.4382	0.04488	0.2932:0.3022:0.4046:0.0	.	328;283;282;351;297;367;313;382;328	Q11203-2;Q11203-5;Q11203-7;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	313;297;382;367;351;282;328;283;382;367;351;282	ENSP00000355341:G313C;ENSP00000354748:G297C;ENSP00000262915:G382C;ENSP00000361450:G367C;ENSP00000316999:G351C;ENSP00000361449:G282C;ENSP00000317192:G328C;ENSP00000361444:G283C;ENSP00000354657:G382C;ENSP00000361443:G367C;ENSP00000361447:G351C;ENSP00000329755:G282C	ENSP00000262915:G382C	G	+	1	0	ST3GAL3	44159086	1.000000	0.71417	0.919000	0.36401	0.978000	0.69477	7.469000	0.80959	1.119000	0.41883	0.591000	0.81541	GGC		0.577	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		4	73	1	0	3.59834e-05	0.001168	4.13983e-05	4	73				
CYP4B1	1580	broad.mit.edu	37	1	47279694	47279694	+	Missense_Mutation	SNP	G	G	T	rs139993247		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:47279694G>T	ENST00000271153.4	+	6	767	c.731G>T	c.(730-732)cGc>cTc	p.R244L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R230L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R245L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R82L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	244					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCACATGGCCGCCGCTTCCTG	0.592																																							uc001cqm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(730-732)CGC>CTC		cytochrome P450, family 4, subfamily B,							101.0	101.0	101.0					1																	47279694		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279694G>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.731G>T	1.37:g.47279694G>T	ENSP00000271153:p.Arg244Leu					CYP4B1_uc009vyl.1_Missense_Mutation_p.R81L|CYP4B1_uc001cqn.3_Missense_Mutation_p.R245L|CYP4B1_uc009vym.2_Missense_Mutation_p.R230L|CYP4B1_uc010omk.1_Missense_Mutation_p.R81L|CYP4B1_uc010oml.1_Missense_Mutation_p.R82L	p.R244L	NM_000779	NP_000770	P13584	CP4B1_HUMAN			6	815	+	Acute lymphoblastic leukemia(166;0.155)		244					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.731G>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919161	0.52546	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.08	5.08	0.68730	.	0.278448	0.42682	D	0.000670	T	0.70098	0.3185	M	0.72894	2.215	0.34659	D	0.722498	P;P;B;B	0.43607	0.708;0.812;0.193;0.231	B;B;B;B	0.42593	0.281;0.392;0.151;0.235	T	0.77250	-0.2657	10	0.26408	T	0.33	.	13.4273	0.61032	0.0:0.0:0.8429:0.1571	.	82;230;245;244	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	L	245;244;230;82;81	ENSP00000360991:R245L;ENSP00000271153:R244L;ENSP00000360987:R230L;ENSP00000400413:R82L;ENSP00000437670:R81L	ENSP00000271153:R244L	R	+	2	0	CYP4B1	47052281	0.001000	0.12720	1.000000	0.80357	0.519000	0.34347	0.596000	0.24044	2.356000	0.79943	0.491000	0.48974	CGC		0.592	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		49	102	1	0	1.38909e-20	0.00361	2.15526e-20	49	102				
FOXD2	2306	broad.mit.edu	37	1	47904171	47904171	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:47904171C>T	ENST00000334793.5	+	1	2483	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	122					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R122W(1)		lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cgcggcgACGCGGAGCCCGCT	0.781																																							uc001crm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGG>TGG		forkhead box D2							20.0	22.0	21.0					1																	47904171		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904171C>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.364C>T	1.37:g.47904171C>T	ENSP00000335493:p.Arg122Trp						p.R122W	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2483	+			122					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.364C>T	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196045	0.38806	.	.	ENSG00000186564	ENST00000334793	D	0.94000	-3.33	3.56	2.51	0.30379	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.066835	0.64402	U	0.000018	D	0.85208	0.5644	N	0.08118	0	0.26058	N	0.981393	D	0.71674	0.998	P	0.48270	0.572	T	0.78738	-0.2087	10	0.87932	D	0	.	5.6843	0.17794	0.2202:0.5652:0.2146:0.0	.	122	O60548	FOXD2_HUMAN	W	122	ENSP00000335493:R122W	ENSP00000335493:R122W	R	+	1	2	FOXD2	47676758	0.995000	0.38212	0.984000	0.44739	0.068000	0.16541	-0.129000	0.10515	1.911000	0.55334	0.505000	0.49811	CGG		0.781	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		4	19	0	0	0	0.000602	0	4	19				
C1orf141	400757	broad.mit.edu	37	1	67591503	67591503	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:67591503A>T	ENST00000371007.2	-	4	274	c.165T>A	c.(163-165)gcT>gcA	p.A55A	C1orf141_ENST00000544837.1_Silent_p.A55A|C1orf141_ENST00000371006.1_Silent_p.A55A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	55								p.A55A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ACGCGGATGTAGCAAGAGCTT	0.363																																							uc001ddl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(163-165)GCT>GCA		hypothetical protein LOC400757							207.0	198.0	201.0					1																	67591503		2203	4300	6503	SO:0001819	synonymous_variant	400757							g.chr1:67591503A>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.165T>A	1.37:g.67591503A>T						C1orf141_uc001ddm.1_Silent_p.A55A|C1orf141_uc001ddn.1_RNA	p.A55A	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			3	276	-			55					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.165T>A	CCDS30745.1																																																																																				0.363	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		29	185	0	0	0	0.002096	0	29	185				
LRRIQ3	127255	broad.mit.edu	37	1	74648512	74648512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:74648512C>G	ENST00000395089.1	-	2	282	c.283G>C	c.(283-285)Gga>Cga	p.G95R	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.G95R|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95R			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	95								p.G95R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTTCAATCCATTCCAAAAT	0.308																																							uc001dfy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(283-285)GGA>CGA		leucine-rich repeats and IQ motif containing 3							50.0	50.0	50.0					1																	74648512		2203	4298	6501	SO:0001583	missense	127255							g.chr1:74648512C>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.283G>C	1.37:g.74648512C>G	ENSP00000378524:p.Gly95Arg					LRRIQ3_uc001dfz.3_RNA	p.G95R	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			3	475	-			95					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.283G>C	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298087	0.40694	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.10005	2.92;2.92;2.92	5.66	3.8	0.43715	.	0.371283	0.26045	N	0.026677	T	0.03011	0.0089	L	0.28115	0.83	0.28365	N	0.920286	P	0.35944	0.529	B	0.38880	0.284	T	0.30679	-0.9970	10	0.54805	T	0.06	.	6.212	0.20633	0.0:0.6737:0.0:0.3263	.	95	A6PVS8	LRIQ3_HUMAN	R	95	ENSP00000378524:G95R;ENSP00000346414:G95R;ENSP00000359948:G95R	ENSP00000346414:G95R	G	-	1	0	LRRIQ3	74421100	0.698000	0.27777	1.000000	0.80357	0.994000	0.84299	0.519000	0.22862	1.390000	0.46547	0.655000	0.94253	GGA		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	28	0	0	0	0.001168	0	6	28				
ERICH3	127254	broad.mit.edu	37	1	75037858	75037858	+	Missense_Mutation	SNP	C	C	A	rs10539747	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75037858C>A	ENST00000326665.5	-	14	3754	c.3536G>T	c.(3535-3537)gGg>gTg	p.G1179V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1179	Glu-rich.							p.G1179V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGTCTTTCCCCTCCTCCTTC	0.493																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3535-3537)GGG>GTG		hypothetical protein LOC127254							126.0	119.0	121.0					1																	75037858		2203	4299	6502	SO:0001583	missense	127254							g.chr1:75037858C>A																												ENST00000326665.5:c.3536G>T	1.37:g.75037858C>A	ENSP00000322609:p.Gly1179Val						p.G1179V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3755	-			1179			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3536G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416548	0.42918	.	.	ENSG00000178965	ENST00000326665	T	0.27104	1.69	4.49	-8.99	0.00751	.	.	.	.	.	T	0.03263	0.0095	N	0.22421	0.69	0.09310	N	0.99999	B	0.18863	0.031	B	0.14578	0.011	T	0.31641	-0.9936	9	0.33940	T	0.23	-0.0469	2.6813	0.05094	0.2309:0.1391:0.0922:0.5378	.	1179	Q5RHP9	CA173_HUMAN	V	1179	ENSP00000322609:G1179V	ENSP00000322609:G1179V	G	-	2	0	C1orf173	74810446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.697000	0.00826	-1.674000	0.01461	-1.618000	0.00794	GGG		0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			36	241	1	0	1.47244e-24	0.00623	2.36991e-24	36	241				
ERICH3	127254	broad.mit.edu	37	1	75107077	75107077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75107077G>T	ENST00000326665.5	-	5	600	c.382C>A	c.(382-384)Cca>Aca	p.P128T		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		128								p.P128T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTACTCTTTGGGCCAACTGGT	0.443																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(382-384)CCA>ACA		hypothetical protein LOC127254							142.0	125.0	131.0					1																	75107077		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75107077G>T																												ENST00000326665.5:c.382C>A	1.37:g.75107077G>T	ENSP00000322609:p.Pro128Thr						p.P128T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			5	601	-			128					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.382C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177051	0.38413	.	.	ENSG00000178965	ENST00000326665	T	0.18016	2.24	5.41	3.48	0.39840	.	.	.	.	.	T	0.18841	0.0452	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.59948	0.866	T	0.01528	-1.1332	9	0.72032	D	0.01	-6.3548	7.4144	0.27036	0.0896:0.0:0.7411:0.1693	.	128	Q5RHP9	CA173_HUMAN	T	128	ENSP00000322609:P128T	ENSP00000322609:P128T	P	-	1	0	C1orf173	74879665	0.999000	0.42202	0.997000	0.53966	0.102000	0.19082	2.142000	0.42177	1.401000	0.46761	0.557000	0.71058	CCA		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			19	95	1	0	4.35082e-09	0.010504	5.68907e-09	19	95				
LHX8	431707	broad.mit.edu	37	1	75608902	75608902	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75608902C>A	ENST00000294638.5	+	6	1153	c.489C>A	c.(487-489)gcC>gcA	p.A163A	LHX8_ENST00000356261.3_Silent_p.A153A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	163	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A163A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CATGCTTTGCCTGCTTTTCCT	0.488																																							uc001dgo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(487-489)GCC>GCA		LIM homeobox 8							116.0	109.0	111.0					1																	75608902		2203	4299	6502	SO:0001819	synonymous_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75608902C>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.489C>A	1.37:g.75608902C>A						LHX8_uc001dgq.2_Silent_p.A102A	p.A163A	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			6	1153	+			163			LIM zinc-binding 2.		E9PGE3	Silent	SNP	ENST00000294638.5	37	c.489C>A	CCDS30756.1																																																																																				0.488	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		21	83	1	0	4.26978e-12	0.00333	6.00556e-12	21	83				
SLC44A5	204962	broad.mit.edu	37	1	75681537	75681537	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75681537G>C	ENST00000370855.5	-	19	1743	c.1630C>G	c.(1630-1632)Cag>Gag	p.Q544E	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q544E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q414E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	544					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q544E(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AATGTGTTCTGGGTACCTATG	0.303																																							uc001dgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1630-1632)CAG>GAG		solute carrier family 44, member 5 isoform A							62.0	65.0	64.0					1																	75681537		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75681537G>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1630C>G	1.37:g.75681537G>C	ENSP00000359892:p.Gln544Glu					SLC44A5_uc001dgt.2_Missense_Mutation_p.Q544E|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q502E|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q502E|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q583E|SLC44A5_uc010ora.1_Missense_Mutation_p.Q538E|SLC44A5_uc010orb.1_Missense_Mutation_p.Q414E	p.Q544E	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			19	1774	-			544			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1630C>G	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281578	0.10458	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.21543	2.0;2.0;2.0	5.4	-0.428	0.12306	.	0.804753	0.12129	N	0.496994	T	0.03915	0.0110	N	0.25957	0.775	0.25758	N	0.984978	B;B;B;B;B	0.13594	0.0;0.008;0.008;0.006;0.002	B;B;B;B;B	0.20577	0.005;0.015;0.015;0.03;0.009	T	0.46428	-0.9192	10	0.06891	T	0.86	0.1541	13.3472	0.60580	0.0:0.2673:0.5425:0.1901	.	538;583;544;544;583	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	E	544;583;544;414;537	ENSP00000359896:Q544E;ENSP00000359892:Q544E;ENSP00000443090:Q414E	ENSP00000359892:Q544E	Q	-	1	0	SLC44A5	75454125	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.600000	0.46240	-0.170000	0.10816	-2.335000	0.00248	CAG		0.303	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		8	49	0	0	0	0.008291	0	8	49				
SLC44A5	204962	broad.mit.edu	37	1	75693506	75693506	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75693506T>G	ENST00000370855.5	-	13	1003	c.890A>C	c.(889-891)cAg>cCg	p.Q297P	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q297P|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q167P	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	297					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGCGTTCCTGAAGATTGGT	0.348																																							uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(889-891)CAG>CCG		solute carrier family 44, member 5 isoform A							114.0	109.0	111.0					1																	75693506		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75693506T>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.890A>C	1.37:g.75693506T>G	ENSP00000359892:p.Gln297Pro					SLC44A5_uc001dgt.2_Missense_Mutation_p.Q297P|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q255P|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q255P|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q336P|SLC44A5_uc010ora.1_Missense_Mutation_p.Q291P|SLC44A5_uc010orb.1_Missense_Mutation_p.Q167P	p.Q297P	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			13	1034	-			297			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.890A>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.299377	0.40694	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15256	2.85;2.85;2.44	6.05	2.54	0.30619	.	0.491298	0.23470	N	0.047822	T	0.11879	0.0289	M	0.68317	2.08	0.29506	N	0.854538	B;P;P;P;P	0.42735	0.43;0.683;0.683;0.788;0.635	B;B;B;P;P	0.46975	0.222;0.333;0.222;0.533;0.533	T	0.03534	-1.1027	10	0.48119	T	0.1	7.0E-4	9.3634	0.38210	0.0:0.2007:0.0:0.7993	.	291;336;297;297;336	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	P	297;336;297;167;290	ENSP00000359896:Q297P;ENSP00000359892:Q297P;ENSP00000443090:Q167P	ENSP00000359892:Q297P	Q	-	2	0	SLC44A5	75466094	0.255000	0.24002	0.180000	0.23079	0.020000	0.10135	1.137000	0.31479	0.532000	0.28657	-0.263000	0.10527	CAG		0.348	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		6	53	0	0	0	0.001168	0	6	53				
MSH4	4438	broad.mit.edu	37	1	76355032	76355032	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:76355032C>T	ENST00000263187.3	+	16	2308	c.2204C>T	c.(2203-2205)aCa>aTa	p.T735I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	735					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.T735I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATTCATCAACATTTATGAAA	0.279								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2203-2205)ACA>ATA	MMR	mutS homolog 4							53.0	60.0	57.0					1																	76355032		2188	4259	6447	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76355032C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2204C>T	1.37:g.76355032C>T	ENSP00000263187:p.Thr735Ile						p.T735I	NM_002440	NP_002431	O15457	MSH4_HUMAN			16	2245	+			735					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2204C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046616	0.75846	.	.	ENSG00000057468	ENST00000263187	D	0.89415	-2.51	5.31	5.31	0.75309	DNA mismatch repair protein MutS, C-terminal (2);	0.054565	0.64402	D	0.000001	D	0.97052	0.9037	H	0.98980	4.39	0.52099	D	0.999946	D	0.76494	0.999	D	0.77004	0.989	D	0.98750	1.0720	10	0.87932	D	0	-17.3266	18.9808	0.92755	0.0:1.0:0.0:0.0	.	735	O15457	MSH4_HUMAN	I	735	ENSP00000263187:T735I	ENSP00000263187:T735I	T	+	2	0	MSH4	76127620	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.728000	0.68531	2.495000	0.84180	0.650000	0.86243	ACA		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		11	59	0	0	0	0.001368	0	11	59				
ZZZ3	26009	broad.mit.edu	37	1	78098720	78098720	+	Missense_Mutation	SNP	C	C	T	rs373232337		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:78098720C>T	ENST00000370801.3	-	5	795	c.320G>A	c.(319-321)aGg>aAg	p.R107K	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R107K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTGTTTGCCTTCTCTCACA	0.388																																							uc001dhq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(319-321)AGG>AAG		zinc finger, ZZ-type containing 3							234.0	240.0	238.0					1																	78098720		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098720C>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.320G>A	1.37:g.78098720C>T	ENSP00000359837:p.Arg107Lys					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R107K|ZZZ3_uc001dhp.2_Missense_Mutation_p.R107K	p.R107K	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	796	-			107					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.320G>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	9.337	1.062042	0.19987	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.55	4.61	0.57282	.	0.205964	0.51477	N	0.000092	T	0.38825	0.1055	L	0.56769	1.78	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.34925	-0.9809	8	.	.	.	.	10.239	0.43301	0.0:0.7804:0.0:0.2196	.	107;107;107	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	107	.	.	R	-	2	0	ZZZ3	77871308	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.910000	0.39927	1.387000	0.46486	0.650000	0.86243	AGG		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		39	266	0	0	0	0.004289	0	39	266				
ZNF326	284695	broad.mit.edu	37	1	90484244	90484244	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:90484244G>T	ENST00000340281.4	+	9	1218	c.1075G>T	c.(1075-1077)Gag>Tag	p.E359*	ZNF326_ENST00000455342.2_Splice_Site_p.E153*|ZNF326_ENST00000370447.3_Splice_Site_p.E270*	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	359					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.E359*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTTTCTAGGAGTGTATGGT	0.303																																							uc001dnq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1075-1077)GAG>TAG		zinc finger protein 326 isoform 1							49.0	53.0	52.0					1																	90484244		2199	4270	6469	SO:0001630	splice_region_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90484244G>T	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1075-1G>T	1.37:g.90484244G>T						ZNF326_uc009wda.1_Nonsense_Mutation_p.E270*|ZNF326_uc001dnr.2_Nonsense_Mutation_p.E153*	p.E359*	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	9	1214	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	359					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Nonsense_Mutation	SNP	ENST00000340281.4	37	c.1075G>T	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	38	6.973942	0.97975	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	.	.	.	5.56	5.56	0.83823	.	0.054916	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.7971	19.1298	0.93400	0.0:0.0:1.0:0.0	.	.	.	.	X	359;359;270;153	.	.	E	+	1	0	ZNF326	90256832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.752000	0.74898	2.620000	0.88729	0.650000	0.86243	GAG		0.303	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	Nonsense_Mutation	5	30	1	0	0.000602214	0.000602	0.000665384	5	30				
HFM1	164045	broad.mit.edu	37	1	91740287	91740287	+	Splice_Site	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:91740287C>G	ENST00000370425.3	-	33	3766	c.3668G>C	c.(3667-3669)aGg>aCg	p.R1223T	HFM1_ENST00000294696.5_Splice_Site_p.R455T|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Splice_Site_p.R902T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1223					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R1223T(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)		ATATTTGTACCTTGATATACT	0.323																																							uc001doa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3667-3669)AGG>ACG		HFM1 protein							53.0	57.0	56.0					1																	91740287		2202	4298	6500	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91740287C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3668+1G>C	1.37:g.91740287C>G						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R902T|HFM1_uc001dob.3_Missense_Mutation_p.R411T|HFM1_uc010osv.1_Missense_Mutation_p.R907T	p.R1223T	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)	33	3768	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1223					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3668G>C	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.18|13.18	2.161043|2.161043	0.38119|0.38119	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424	.|T;T;T	.|0.66460	.|0.14;0.49;-0.21	5.29|5.29	4.38|4.38	0.52667|0.52667	.|.	.|0.436120	.|0.18348	.|N	.|0.143964	T|T	0.70325|0.70325	0.3211|0.3211	M|M	0.66939|0.66939	2.045|2.045	0.33873|0.33873	D|D	0.635176|0.635176	.|D;B;P	.|0.71674	.|0.998;0.181;0.956	.|D;B;P	.|0.69824	.|0.966;0.068;0.549	T|T	0.72616|0.72616	-0.4239|-0.4239	5|9	.|.	.|.	.|.	.|.	11.255|11.255	0.49048|0.49048	0.0:0.9133:0.0:0.0867|0.0:0.9133:0.0:0.0867	.|.	.|902;434;1223	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	R|T	435|1223;455;902	.|ENSP00000359454:R1223T;ENSP00000294696:R455T;ENSP00000359453:R902T	.|.	G|R	-|-	1|2	0|0	HFM1|HFM1	91512875|91512875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.095000|0.095000	0.18619|0.18619	4.633000|4.633000	0.61318|0.61318	1.245000|1.245000	0.43885|0.43885	0.460000|0.460000	0.39030|0.39030	GGT|AGG		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	4	22	0	0	0	0.000602	0	4	22				
HFM1	164045	broad.mit.edu	37	1	91742226	91742226	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:91742226T>A	ENST00000370425.3	-	32	3645	c.3547A>T	c.(3547-3549)Agg>Tgg	p.R1183W	HFM1_ENST00000294696.5_Missense_Mutation_p.R415W|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R862W	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1183					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R1183W(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)		ACAGCATTCCTGTTTCTTAAA	0.294																																							uc001doa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3547-3549)AGG>TGG		HFM1 protein							57.0	58.0	58.0					1																	91742226		2202	4290	6492	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91742226T>A	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.3547A>T	1.37:g.91742226T>A	ENSP00000359454:p.Arg1183Trp					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R862W|HFM1_uc001dob.3_Missense_Mutation_p.R371W|HFM1_uc010osv.1_Missense_Mutation_p.R867W	p.R1183W	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)	32	3647	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1183					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3547A>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158252	0.78114	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.69685	-0.07;0.31;-0.42	5.41	5.41	0.78517	.	0.743675	0.11435	N	0.564455	T	0.75803	0.3899	M	0.68952	2.095	0.45390	D	0.998371	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.75769	-0.3201	10	0.87932	D	0	.	12.9825	0.58572	0.0:0.0:0.0:1.0	.	862;394;1183	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	W	1183;415;862	ENSP00000359454:R1183W;ENSP00000294696:R415W;ENSP00000359453:R862W	ENSP00000294696:R415W	R	-	1	2	HFM1	91514814	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.849000	0.62882	2.049000	0.60858	0.528000	0.53228	AGG		0.294	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	24	0	0	0	0.001984	0	5	24				
BRDT	676	broad.mit.edu	37	1	92441976	92441976	+	Missense_Mutation	SNP	G	G	T	rs200502585		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:92441976G>T	ENST00000362005.3	+	6	1017	c.599G>T	c.(598-600)aGt>aTt	p.S200I	BRDT_ENST00000370389.2_Missense_Mutation_p.S127I|BRDT_ENST00000402388.1_Missense_Mutation_p.S200I|BRDT_ENST00000394530.3_Missense_Mutation_p.S154I|BRDT_ENST00000399546.2_Missense_Mutation_p.S200I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	200					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.S200I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCAACTCCAGTTCACAAACT	0.358																																							uc001dok.3		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(598-600)AGT>ATT		testis-specific bromodomain protein							68.0	64.0	65.0					1																	92441976		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92441976G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.599G>T	1.37:g.92441976G>T	ENSP00000354568:p.Ser200Ile					BRDT_uc001dol.3_Missense_Mutation_p.S200I|BRDT_uc010osz.1_Missense_Mutation_p.S204I|BRDT_uc009wdf.2_Missense_Mutation_p.S127I|BRDT_uc010ota.1_Missense_Mutation_p.S154I|BRDT_uc010otb.1_Missense_Mutation_p.S154I|BRDT_uc001dom.3_Missense_Mutation_p.S200I	p.S200I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	5	948	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	200					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.599G>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428775	0.25726	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T	0.19532	3.17;3.16;3.17;3.21;2.14;2.88;3.17	4.81	0.689	0.18033	.	1.176120	0.05932	N	0.635356	T	0.03915	0.0110	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.20887	0.012;0.029;0.002;0.049	B;B;B;B	0.14023	0.007;0.006;0.007;0.01	T	0.42666	-0.9438	10	0.59425	D	0.04	10.9606	4.0571	0.09821	0.1289:0.5602:0.2011:0.1099	.	154;154;204;200	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	200;127;200;200;154;200;200;200	ENSP00000354568:S200I;ENSP00000359416:S127I;ENSP00000387822:S200I;ENSP00000378038:S154I;ENSP00000416714:S200I;ENSP00000404969:S200I;ENSP00000384051:S200I	ENSP00000354568:S200I	S	+	2	0	BRDT	92214564	0.017000	0.18338	0.046000	0.18839	0.023000	0.10783	0.162000	0.16501	-0.055000	0.13244	0.555000	0.69702	AGT		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		14	64	1	0	2.31682e-05	0.003163	2.68831e-05	14	64				
AMY1C	278	broad.mit.edu	37	1	104297220	104297220	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:104297220T>C	ENST00000370079.3	+	6	1042	c.978T>C	c.(976-978)tcT>tcC	p.S326S		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	326					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.S326S(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GAGGAGCCTCTATACTTACCT	0.413																																						Pancreas(131;743 2392 43382 44986)	uc001duy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(976-978)TCT>TCC		salivary amylase alpha 1A precursor							186.0	194.0	192.0					1																	104297220		2172	4193	6365	SO:0001819	synonymous_variant	276				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	g.chr1:104297220T>C		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.978T>C	1.37:g.104297220T>C						AMY1A_uc001duz.2_Silent_p.S326S	p.S326S	NM_001008221	NP_001008222	P04745	AMY1_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	7	1192	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	326					A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	ENST00000370079.3	37	c.978T>C	CCDS30784.1																																																																																				0.413	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		19	429	0	0	0	0.00623	0	19	429				
VAV3	10451	broad.mit.edu	37	1	108303496	108303496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:108303496A>T	ENST00000370056.4	-	10	1201	c.927T>A	c.(925-927)tgT>tgA	p.C309*	VAV3_ENST00000527011.1_Nonsense_Mutation_p.C309*|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Nonsense_Mutation_p.C244*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	309	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.C309*(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)		CTCTTTTGGAACATTCCTAAT	0.353																																							uc001dvk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(2)|breast(2)	9						c.(925-927)TGT>TGA		vav 3 guanine nucleotide exchange factor isoform							70.0	60.0	63.0					1																	108303496		2203	4299	6502	SO:0001587	stop_gained	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.chr1:108303496A>T	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.927T>A	1.37:g.108303496A>T	ENSP00000359073:p.Cys309*					VAV3_uc010ouw.1_Nonsense_Mutation_p.C309*|VAV3_uc001dvl.1_Nonsense_Mutation_p.C133*|VAV3_uc010oux.1_Nonsense_Mutation_p.C309*	p.C309*	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	10	981	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	309			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	ENST00000370056.4	37	c.927T>A	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	6.920434|6.920434	0.97936|0.97936	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	.|.	.|.	.|.	5.66|5.66	2.06|2.06	0.26882|0.26882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.33614	.|0.0869	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10870	.|-1.0611	.|3	0.02654|.	T|.	1|.	.|.	9.8429|9.8429	0.41010|0.41010	0.8111:0.0:0.1889:0.0|0.8111:0.0:0.1889:0.0	.|.	.|.	.|.	.|.	X|D	309;309;244|304	.|.	ENSP00000359073:C309X|.	C|V	-|-	3|2	2|0	VAV3|VAV3	108105019|108105019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.951000|1.951000	0.40333|0.40333	0.093000|0.093000	0.17368|0.17368	-1.007000|-1.007000	0.02485|0.02485	TGT|GTT		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		3	22	0	0	0	0.004672	0	3	22				
KIAA1324	57535	broad.mit.edu	37	1	109735309	109735309	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:109735309A>G	ENST00000369939.3	+	14	1943	c.1760A>G	c.(1759-1761)tAc>tGc	p.Y587C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.Y500C|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	587					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.Y587C(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTGGCCTCCTACTGCCGTCCC	0.522																																							uc001dwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(1759-1761)TAC>TGC		hypothetical protein LOC57535 precursor							269.0	252.0	258.0					1																	109735309		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109735309A>G	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1760A>G	1.37:g.109735309A>G	ENSP00000358955:p.Tyr587Cys					KIAA1324_uc009wex.1_Missense_Mutation_p.Y537C|KIAA1324_uc009wey.2_Missense_Mutation_p.Y500C|KIAA1324_uc010ovg.1_Missense_Mutation_p.Y485C|KIAA1324_uc001dwr.2_Missense_Mutation_p.Y237C	p.Y587C	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	15	1896	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	587			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.1760A>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681392	0.47991	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.63580	-0.05;-0.05;-0.05	4.81	3.66	0.41972	Growth factor, receptor (1);	0.397320	0.29383	N	0.012316	T	0.45875	0.1364	N	0.22421	0.69	0.36932	D	0.891925	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	P;D;P;P	0.63793	0.906;0.918;0.906;0.906	T	0.51284	-0.8725	10	0.39692	T	0.17	-6.8164	5.1087	0.14798	0.7531:0.0:0.0856:0.1613	.	587;500;587;587	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	C	587;537;500	ENSP00000358955:Y587C;ENSP00000393964:Y537C;ENSP00000434595:Y500C	ENSP00000358955:Y587C	Y	+	2	0	KIAA1324	109536832	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	1.653000	0.37323	0.948000	0.37687	-0.341000	0.08007	TAC		0.522	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		51	318	0	0	0	0.00361	0	51	318				
KIAA1324	57535	broad.mit.edu	37	1	109740147	109740147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:109740147G>T	ENST00000369939.3	+	16	2356	c.2173G>T	c.(2173-2175)Gag>Tag	p.E725*	KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.E638*|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	725					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.E725*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCGGATTCCTGAGGGTGAGTC	0.552																																							uc001dwq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(2173-2175)GAG>TAG		hypothetical protein LOC57535 precursor							88.0	88.0	88.0					1																	109740147		2203	4300	6503	SO:0001587	stop_gained	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740147G>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2173G>T	1.37:g.109740147G>T	ENSP00000358955:p.Glu725*					KIAA1324_uc009wex.1_Nonsense_Mutation_p.E675*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.E638*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.E623*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.E375*|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	p.E725*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	17	2309	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	725			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	c.2173G>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961499	0.98583	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	6.08	6.08	0.98989	.	0.323197	0.29389	N	0.012298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.0365	19.4349	0.94788	0.0:0.0:1.0:0.0	.	.	.	.	X	725;675;638	.	ENSP00000358955:E725X	E	+	1	0	KIAA1324	109541670	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.848000	0.86902	2.894000	0.99253	0.655000	0.94253	GAG		0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		12	107	1	0	6.42651e-13	0.000978	9.20292e-13	12	107				
SYPL2	284612	broad.mit.edu	37	1	110018245	110018245	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110018245G>T	ENST00000369872.3	+	3	388	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.G58W	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.G58W(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCTACAGCGGGGAGACAGG	0.527																																							uc001dxp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)GGG>TGG		mitsugumin 29							78.0	84.0	82.0					1																	110018245		2017	4166	6183	SO:0001583	missense	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110018245G>T	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.172G>T	1.37:g.110018245G>T	ENSP00000358888:p.Gly58Trp					SYPL2_uc001dxo.2_Missense_Mutation_p.G58W|SYPL2_uc010ovk.1_Missense_Mutation_p.G58W|SYPL2_uc001dxq.2_5'Flank	p.G58W	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	3	538	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	58			Vesicular (Potential).|MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	c.172G>T	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029446	0.93518	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T;T	0.27720	1.65;1.65	5.87	5.87	0.94306	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.82923	2.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.59947	-0.7358	10	0.87932	D	0	.	18.9775	0.92743	0.0:0.0:1.0:0.0	.	58;58;58	B4DYR7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	W	58	ENSP00000383805:G58W;ENSP00000358888:G58W	ENSP00000358888:G58W	G	+	1	0	SYPL2	109819768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.026000	0.93700	2.785000	0.95823	0.655000	0.94253	GGG		0.527	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		5	34	1	0	0.00116845	0.001168	0.00127467	5	34				
GPR61	83873	broad.mit.edu	37	1	110085968	110085968	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110085968C>A	ENST00000527748.1	+	2	1007	c.324C>A	c.(322-324)gcC>gcA	p.A108A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A108A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACCACGCCCTCTTTGGGG	0.597																																							uc001dxy.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(322-324)GCC>GCA		G protein-coupled receptor 61							93.0	87.0	89.0					1																	110085968		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085968C>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.324C>A	1.37:g.110085968C>A							p.A108A	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1007	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	108			Extracellular (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.324C>A	CCDS801.1																																																																																				0.597	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			14	80	1	0	7.93312e-07	0.00245	9.62945e-07	14	80				
RBM15	64783	broad.mit.edu	37	1	110883749	110883749	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110883749A>T	ENST00000369784.3	+	1	2622	c.1722A>T	c.(1720-1722)agA>agT	p.R574S	RBM15_ENST00000487146.2_Missense_Mutation_p.R574S|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R574S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	574					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R574S(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACTATACAGAGATCGTGATA	0.552			T	MKL1	acute megakaryocytic leukemia																																		uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1720-1722)AGA>AGT		RNA binding motif protein 15							50.0	44.0	46.0					1																	110883749		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883749A>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1722A>T	1.37:g.110883749A>T	ENSP00000358799:p.Arg574Ser					RBM15_uc001dzm.1_Missense_Mutation_p.R574S|uc001dzj.2_5'Flank	p.R574S	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1805	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	574					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.1722A>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072759	0.20147	.	.	ENSG00000162775	ENST00000369784	T	0.18502	2.21	4.44	3.29	0.37713	.	0.000000	0.45867	D	0.000338	T	0.03434	0.0099	N	0.17800	0.525	0.45439	D	0.99841	P;P	0.50819	0.939;0.9	B;B	0.42916	0.402;0.227	T	0.25779	-1.0122	10	0.09084	T	0.74	-9.5534	6.6329	0.22867	0.8064:0.0:0.1936:0.0	.	574;574	Q96T37-3;Q96T37	.;RBM15_HUMAN	S	574	ENSP00000358799:R574S	ENSP00000358799:R574S	R	+	3	2	RBM15	110685272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.172000	0.42463	1.869000	0.54173	0.533000	0.62120	AGA		0.552	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		13	49	0	0	0	0.003163	0	13	49				
MOV10	4343	broad.mit.edu	37	1	113232654	113232654	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:113232654A>T	ENST00000413052.2	+	5	1160	c.770A>T	c.(769-771)aAg>aTg	p.K257M	MOV10_ENST00000357443.2_Missense_Mutation_p.K257M|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.K201M|MOV10_ENST00000369645.1_Missense_Mutation_p.K257M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	257					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.K257M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACTCCCTTCAAGCGGACCCGG	0.617																																							uc001eck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(769-771)AAG>ATG		Mov10, Moloney leukemia virus 10, homolog							66.0	69.0	68.0					1																	113232654		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232654A>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.770A>T	1.37:g.113232654A>T	ENSP00000399797:p.Lys257Met					MOV10_uc001ecl.2_Missense_Mutation_p.K257M|MOV10_uc001ecn.2_Missense_Mutation_p.K257M|MOV10_uc001ecm.2_Missense_Mutation_p.K197M|MOV10_uc009wgj.1_Missense_Mutation_p.K197M	p.K257M	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	5	1040	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	257					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.770A>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030377	0.75504	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92752	-3.08;-3.08;-3.1;-3.08	5.77	2.08	0.27032	.	0.523850	0.22040	N	0.065469	T	0.82162	0.4977	L	0.46157	1.445	0.80722	D	1	B;B;P	0.43885	0.35;0.226;0.82	B;B;B	0.42112	0.376;0.303;0.376	T	0.79785	-0.1657	10	0.72032	D	0.01	-7.9798	5.5134	0.16894	0.5673:0.3452:0.0875:0.0	.	201;257;257	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	M	257;257;257;201;257;195	ENSP00000399797:K257M;ENSP00000358659:K257M;ENSP00000358658:K201M;ENSP00000350028:K257M	ENSP00000285733:K257M	K	+	2	0	MOV10	113034177	0.994000	0.37717	0.995000	0.50966	0.964000	0.63967	1.243000	0.32767	0.404000	0.25506	0.459000	0.35465	AAG		0.617	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		44	85	0	0	0	0.00361	0	44	85				
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:113242307G>C	ENST00000413052.2	+	18	2974	c.2584G>C	c.(2584-2586)Gtg>Ctg	p.V862L	MOV10_ENST00000357443.2_Splice_Site_p.V862L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Splice_Site_p.V806L|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369645.1_Splice_Site_p.V862L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	862					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567																																							uc001eck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2584-2586)GTG>CTG		Mov10, Moloney leukemia virus 10, homolog							99.0	101.0	100.0					1																	113242307		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242307G>C	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2584-1G>C	1.37:g.113242307G>C						MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V862L|MOV10_uc001ecm.2_Missense_Mutation_p.V802L	p.V862L	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	18	2854	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	862					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2584G>C	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195553	0.78902	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98364	1.0550	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	L	862;862;806;862;800	ENSP00000399797:V862L;ENSP00000358659:V862L;ENSP00000358658:V806L;ENSP00000350028:V862L	ENSP00000350028:V862L	V	+	1	0	MOV10	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG		0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	38	112	0	0	0	0.00623	0	38	112				
MAGI3	260425	broad.mit.edu	37	1	114189213	114189213	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:114189213T>G	ENST00000307546.9	+	12	2179	c.2104T>G	c.(2104-2106)Ttg>Gtg	p.L702V	MAGI3_ENST00000369617.4_Missense_Mutation_p.L727V|MAGI3_ENST00000369615.1_Missense_Mutation_p.L702V|MAGI3_ENST00000369611.4_Missense_Mutation_p.L702V	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	727					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.L702V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		ATCCCCAAAATTGGATCCTTC	0.383																																							uc001edk.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2104-2106)TTG>GTG		membrane-associated guanylate kinase-related  3							102.0	101.0	101.0					1																	114189213		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114189213T>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2104T>G	1.37:g.114189213T>G	ENSP00000304604:p.Leu702Val					MAGI3_uc001edh.3_Missense_Mutation_p.L727V|MAGI3_uc001edi.3_Missense_Mutation_p.L702V|MAGI3_uc010owm.1_Missense_Mutation_p.L727V|MAGI3_uc001edj.2_Missense_Mutation_p.L423V	p.L702V	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_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)	12	2285	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	727					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2104T>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017503	0.54576	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.39	-5.13	0.02884	.	0.080139	0.52532	D	0.000074	T	0.34483	0.0899	L	0.44542	1.39	0.39121	D	0.961665	D;D;P	0.69078	0.997;0.96;0.93	P;P;P	0.59221	0.854;0.473;0.647	T	0.49781	-0.8903	10	0.40728	T	0.16	-0.0097	17.7864	0.88539	0.0:0.8136:0.0:0.1864	.	702;702;727	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	V	727;702;702;702	ENSP00000358630:L727V;ENSP00000304604:L702V;ENSP00000358628:L702V;ENSP00000358624:L702V	ENSP00000304604:L702V	L	+	1	2	MAGI3	113990736	0.939000	0.31865	0.181000	0.23098	0.986000	0.74619	0.077000	0.14738	-0.941000	0.03700	0.460000	0.39030	TTG		0.383	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		13	76	0	0	0	0.00245	0	13	76				
SV2A	9900	broad.mit.edu	37	1	149881030	149881030	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:149881030A>G	ENST00000369146.3	-	7	1763	c.1273T>C	c.(1273-1275)Ttg>Ctg	p.L425L	SV2A_ENST00000369145.1_Silent_p.L425L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	425					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.L425L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTAGGCTCAAGGCCCGGACC	0.562																																							uc001etg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(1273-1275)TTG>CTG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						62.0	64.0	63.0					1																	149881030		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149881030A>G	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1273T>C	1.37:g.149881030A>G						SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Silent_p.L425L	p.L425L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	1764	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		425			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1273T>C	CCDS940.1																																																																																				0.562	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			81	61	0	0	0	0.00361	0	81	61				
SLC27A3	11000	broad.mit.edu	37	1	153749049	153749049	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:153749049C>G	ENST00000368661.3	+	2	929	c.864C>G	c.(862-864)caC>caG	p.H288Q	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.H369Q	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	288					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.H288Q(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGGCTCCACCTGTGGGCTG	0.622																																							uc001fcz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)CAC>CAG		solute carrier family 27 member 3							77.0	86.0	83.0					1																	153749049		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153749049C>G	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.864C>G	1.37:g.153749049C>G	ENSP00000357650:p.His288Gln					SLC27A3_uc009won.2_RNA	p.H288Q	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	929	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		288					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.864C>G	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	5.443	0.266844	0.10294	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.10382	2.88;2.88	4.68	1.3	0.21679	AMP-dependent synthetase/ligase (1);	1.278910	0.05016	N	0.471861	T	0.01061	0.0035	N	0.02379	-0.575	0.21473	N	0.999678	B	0.02656	0.0	B	0.11329	0.006	T	0.45293	-0.9271	10	0.25106	T	0.35	-0.9243	2.1619	0.03827	0.2096:0.4956:0.1784:0.1164	.	288	Q5K4L6	S27A3_HUMAN	Q	369;288	ENSP00000271857:H369Q;ENSP00000357650:H288Q	ENSP00000271857:H369Q	H	+	3	2	SLC27A3	152015673	0.001000	0.12720	0.977000	0.42913	0.097000	0.18754	-0.364000	0.07583	0.518000	0.28383	0.491000	0.48974	CAC		0.622	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		9	233	0	0	0	0.004482	0	9	233				
ATP8B2	57198	broad.mit.edu	37	1	154317940	154317940	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:154317940T>A	ENST00000368489.3	+	23	2712	c.2712T>A	c.(2710-2712)ttT>ttA	p.F904L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	890					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F904L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGCAAGTTTCTTTGCTATT	0.502											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fex.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2710-2712)TTT>TTA		ATPase, class I, type 8B, member 2 isoform a							282.0	296.0	291.0					1																	154317940		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317940T>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2712T>A	1.37:g.154317940T>A	ENSP00000357475:p.Phe904Leu		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.F904L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2712	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		890			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2712T>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432455	0.83776	.	.	ENSG00000143515	ENST00000368489	T	0.38560	1.13	5.25	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	L	0.38733	1.17	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.08743	-1.0707	10	0.27785	T	0.31	.	8.5665	0.33543	0.0:0.7435:0.0:0.2565	.	904	P98198-3	.	L	904	ENSP00000357475:F904L	ENSP00000357475:F904L	F	+	3	2	ATP8B2	152584564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.627000	0.46469	0.755000	0.32990	-0.242000	0.12053	TTT		0.502	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		28	840	0	0	0	0.002836	0	28	840				
FAM189B	10712	broad.mit.edu	37	1	155223710	155223710	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155223710C>T	ENST00000361361.2	-	4	962	c.453G>A	c.(451-453)tcG>tcA	p.S151S	FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000368368.3_Silent_p.S132S|FAM189B_ENST00000350210.2_Intron|SCAMP3_ENST00000472397.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	151						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.S151S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTTCCTGCCCCGACTCTGGAC	0.602																																							uc001fjm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(451-453)TCG>TCA		hypothetical protein LOC10712 isoform a							56.0	67.0	63.0					1																	155223710		2203	4300	6503	SO:0001819	synonymous_variant	10712					integral to membrane	WW domain binding	g.chr1:155223710C>T	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.453G>A	1.37:g.155223710C>T						RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Silent_p.S132S|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Silent_p.S151S	p.S151S	NM_006589	NP_006580	P81408	F189B_HUMAN			4	1059	-			151					B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	ENST00000361361.2	37	c.453G>A	CCDS1103.1																																																																																				0.602	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		48	52	0	0	0	0.00361	0	48	52				
RUSC1	23623	broad.mit.edu	37	1	155298032	155298032	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155298032G>C	ENST00000368352.5	+	9	2657	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	RUSC1_ENST00000368354.3_Missense_Mutation_p.E730Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000292254.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000368347.4_Missense_Mutation_p.E426Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	836					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.E426Q(1)|p.E730Q(1)|p.E367Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCAGGAGCTTGAGGCCTCAGC	0.552																																							uc001fkj.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2506-2508)GAG>CAG		RUN and SH3 domain containing 1 isoform a							90.0	87.0	88.0					1																	155298032		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155298032G>C	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2506G>C	1.37:g.155298032G>C	ENSP00000357336:p.Glu836Gln					RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.E730Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.E367Q|RUSC1_uc001fkl.2_Missense_Mutation_p.E426Q|RUSC1_uc001fkp.2_Missense_Mutation_p.E367Q|RUSC1_uc001fkq.2_Missense_Mutation_p.E261Q|RUSC1_uc010pgb.1_Missense_Mutation_p.E334Q|RUSC1_uc009wqp.1_Missense_Mutation_p.E361Q|RUSC1_uc001fkn.2_Missense_Mutation_p.E145Q|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.E367Q|RUSC1_uc001fks.2_Intron	p.E836Q	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	2735	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		836					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2506G>C	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	8.292	0.817921	0.16607	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.31769	1.9;1.89;1.48;1.49;1.49	5.15	3.24	0.37175	Src homology-3 domain (1);	0.610249	0.14571	N	0.311432	T	0.06142	0.0159	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.32302	0.112;0.216;0.191;0.363;0.094;0.059	B;B;B;B;B;B	0.29267	0.034;0.047;0.1;0.08;0.039;0.021	T	0.33343	-0.9872	10	0.14656	T	0.56	-6.6897	7.059	0.25115	0.0922:0.1738:0.734:0.0	.	334;367;261;426;335;836	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	Q	730;836;426;367;367	ENSP00000357338:E730Q;ENSP00000357336:E836Q;ENSP00000357331:E426Q;ENSP00000357333:E367Q;ENSP00000292254:E367Q	ENSP00000292254:E367Q	E	+	1	0	RUSC1	153564656	0.090000	0.21635	0.041000	0.18516	0.003000	0.03518	1.653000	0.37323	0.834000	0.34852	-0.218000	0.12543	GAG		0.552	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			14	234	0	0	0	0.007413	0	14	234				
DAP3	7818	broad.mit.edu	37	1	155701746	155701746	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155701746C>G	ENST00000368336.5	+	11	1039	c.915C>G	c.(913-915)gcC>gcG	p.A305A	DAP3_ENST00000343043.3_Silent_p.A305A|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Silent_p.A264A|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Silent_p.A264A|DAP3_ENST00000421487.2_Silent_p.A271A	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	305					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.A305A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATGGAGGCGCCATTGTGTCGG	0.423																																							uc001flq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(913-915)GCC>GCG		death-associated protein 3							37.0	36.0	37.0					1																	155701746		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701746C>G	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.915C>G	1.37:g.155701746C>G						DAP3_uc001flr.2_Silent_p.A305A|DAP3_uc001fls.2_Silent_p.A305A|DAP3_uc010pgl.1_Silent_p.A264A|DAP3_uc001flt.2_Silent_p.A271A|DAP3_uc001flu.2_Silent_p.A278A|DAP3_uc010pgm.1_Silent_p.A271A	p.A305A	NM_033657	NP_387506	P51398	RT29_HUMAN			11	1084	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		305					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.915C>G	CCDS1120.1																																																																																				0.423	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		6	25	0	0	0	0.001168	0	6	25				
IQGAP3	128239	broad.mit.edu	37	1	156501027	156501027	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:156501027C>A	ENST00000361170.2	-	33	4126	c.4116G>T	c.(4114-4116)ctG>ctT	p.L1372L	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1372					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.L1372L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TATCGGCCAACAGCTGCTTGG	0.597																																							uc001fpf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(4114-4116)CTG>CTT		IQ motif containing GTPase activating protein 3							133.0	119.0	123.0					1																	156501027		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156501027C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4116G>T	1.37:g.156501027C>A							p.L1372L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			33	4191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1372					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4116G>T	CCDS1144.1																																																																																				0.597	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		23	121	1	0	9.57634e-11	0.00333	1.31762e-10	23	121				
FCRL5	83416	broad.mit.edu	37	1	157485511	157485512	+	Missense_Mutation	DNP	GG	GG	TT	rs140845798	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:157485511_157485512GG>TT	ENST00000361835.3	-	17	3044_3045	c.2887_2888CC>AA	c.(2887-2889)CCg>AAg	p.P963K	FCRL5_ENST00000356953.4_Missense_Mutation_p.P963K|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	963					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.P963K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCCGGAAACCGGGGTTGACGCC	0.584																																							uc001fqu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2887-2889)CCG>AAG		Fc receptor-like 5																																				SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157485511_157485512GG>TT	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2887_2888delinsTT	1.37:g.157485511_157485512delinsTT	ENSP00000354691:p.Pro963Lys					FCRL5_uc009wsm.2_Silent_p.959_960PR>PR	p.P963K	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			17	3045_3046	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	963			Cytoplasmic (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	DNP	ENST00000361835.3	37	c.2887_2888CC>AA	CCDS1165.1																																																																																				0.584	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		41	509	0	0	0	0.004672	0	41	509				
OR10T2	128360	broad.mit.edu	37	1	158368475	158368475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:158368475C>A	ENST00000334438.1	-	1	781	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGACTTGGGCCGCAGATAGAT	0.512																																							uc010pih.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|central_nervous_system(1)	3						c.(781-783)CGG>CTG		olfactory receptor, family 10, subfamily T,							100.0	86.0	91.0					1																	158368475		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368475C>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.782G>T	1.37:g.158368475C>A	ENSP00000334115:p.Arg261Leu						p.R261L	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	782	-	all_hematologic(112;0.0378)		261			Extracellular (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.782G>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844298	0.32606	.	.	ENSG00000186306	ENST00000334438	T	0.36699	1.24	4.57	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.199411	0.24664	N	0.036605	T	0.32194	0.0821	M	0.71036	2.16	0.09310	N	1	P	0.46395	0.877	P	0.52031	0.688	T	0.11421	-1.0588	10	0.87932	D	0	.	9.9954	0.41896	0.0:0.8306:0.0:0.1694	.	261	Q8NGX3	O10T2_HUMAN	L	261	ENSP00000334115:R261L	ENSP00000334115:R261L	R	-	2	0	OR10T2	156635099	0.000000	0.05858	0.100000	0.21137	0.685000	0.39939	-0.264000	0.08658	0.558000	0.29135	-0.126000	0.14955	CGG		0.512	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		9	67	1	0	3.86212e-05	0.008291	4.43255e-05	9	67				
OR6K3	391114	broad.mit.edu	37	1	158687103	158687103	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:158687103A>G	ENST00000368146.1	-	1	850	c.851T>C	c.(850-852)gTt>gCt	p.V284A	OR6K3_ENST00000368145.1_Missense_Mutation_p.V268A			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, 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.V284A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TGTGTCCAAAACTGGTGGATA	0.433																																							uc010pip.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(850-852)GTT>GCT		olfactory receptor, family 6, subfamily K,							150.0	135.0	140.0					1																	158687103		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687103A>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.851T>C	1.37:g.158687103A>G	ENSP00000357128:p.Val284Ala						p.V284A	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	851	-	all_hematologic(112;0.0378)		284			Extracellular (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.851T>C		.	.	.	.	.	.	.	.	.	.	A	3.141	-0.176320	0.06380	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00063	8.78;8.78	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.25398	-1.0133	9	0.09338	T	0.73	.	4.6664	0.12668	0.6156:0.1955:0.0:0.1889	.	284	Q8NGY3	OR6K3_HUMAN	A	268;284	ENSP00000357127:V268A;ENSP00000357128:V284A	ENSP00000357127:V268A	V	-	2	0	OR6K3	156953727	0.000000	0.05858	0.008000	0.14137	0.584000	0.36387	-0.239000	0.08965	1.686000	0.51046	0.383000	0.25322	GTT		0.433	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				4	223	0	0	0	0.009096	0	4	223				
CADM3	57863	broad.mit.edu	37	1	159166690	159166690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:159166690G>T	ENST00000368125.4	+	7	949	c.792G>T	c.(790-792)caG>caT	p.Q264H	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.Q298H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	264	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.Q298H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCCCCCAGCAGTACCTATGGG	0.527																																							uc001ftl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(790-792)CAG>CAT		cell adhesion molecule 3 isoform 2							77.0	72.0	74.0					1																	159166690		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166690G>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.792G>T	1.37:g.159166690G>T	ENSP00000357107:p.Gln264His					CADM3_uc009wsy.1_Missense_Mutation_p.Q218H|CADM3_uc001ftk.2_Missense_Mutation_p.Q298H|uc001ftm.1_RNA	p.Q264H	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			7	934	+	all_hematologic(112;0.0429)		264			Ig-like C2-type 2.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.792G>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557338	0.65425	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.55052	2.41;2.41;0.54	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.601438	0.16776	N	0.200003	T	0.52289	0.1725	M	0.64567	1.98	0.33215	D	0.553984	B;D;D	0.58620	0.142;0.972;0.983	B;P;P	0.57425	0.092;0.82;0.722	T	0.54091	-0.8345	10	0.40728	T	0.16	.	10.9428	0.47283	0.0:0.0:0.8134:0.1866	.	218;264;298	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	H	298;264;218	ENSP00000357106:Q298H;ENSP00000357107:Q264H;ENSP00000387802:Q218H	ENSP00000357106:Q298H	Q	+	3	2	CADM3	157433314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.752000	0.38349	2.629000	0.89072	0.591000	0.81541	CAG		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		15	203	1	0	2.23348e-06	0.004007	2.66668e-06	15	203				
ACKR1	2532	broad.mit.edu	37	1	159175860	159175860	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:159175860A>T	ENST00000368122.2	+	2	1310	c.631A>T	c.(631-633)Act>Tct	p.T211S	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.T213S|DARC_ENST00000537147.1_Missense_Mutation_p.T211S	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		211					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T213S(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCCACACACACTGTAGCCTG	0.562																																							uc001fto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(631-633)ACT>TCT		Duffy blood group antigen isoform b							84.0	65.0	72.0					1																	159175860		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175860A>T																												ENST00000368122.2:c.631A>T	1.37:g.159175860A>T	ENSP00000357104:p.Thr211Ser					DARC_uc001ftp.3_Missense_Mutation_p.T213S	p.T211S	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	871	+	all_hematologic(112;0.0429)		211			Helical; Name=5; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.631A>T	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	A	8.876	0.950507	0.18431	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.37752	1.18;1.18;1.18	5.5	-5.71	0.02413	.	2.577120	0.02336	N	0.074361	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.12091	-1.0561	10	0.21540	T	0.41	-15.4098	6.6635	0.23027	0.5104:0.0:0.2975:0.192	.	213;211	Q5Y7A1;Q16570	.;DUFFY_HUMAN	S	211;211;211;213	ENSP00000357104:T211S;ENSP00000441985:T211S;ENSP00000357103:T213S	ENSP00000352341:T211S	T	+	1	0	DARC	157442484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.071000	0.03437	-1.572000	0.01661	-1.162000	0.01777	ACT		0.562	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			9	146	0	0	0	0.008291	0	9	146				
NHLH1	4807	broad.mit.edu	37	1	160340530	160340530	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:160340530C>T	ENST00000302101.5	+	2	455	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	3					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.L3L(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATGATGCTCAACTCAGACA	0.662																																							uc001fwa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)CTC>CTT		nescient helix loop helix 1							18.0	22.0	21.0					1																	160340530		2191	4288	6479	SO:0001819	synonymous_variant	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340530C>T	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.9C>T	1.37:g.160340530C>T							p.L3L	NM_005598	NP_005589	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	451	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		3						Silent	SNP	ENST00000302101.5	37	c.9C>T	CCDS1204.1																																																																																				0.662	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		27	25	0	0	0	0.003271	0	27	25				
CD84	8832	broad.mit.edu	37	1	160523869	160523869	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:160523869T>A	ENST00000311224.4	-	3	522	c.456A>T	c.(454-456)acA>acT	p.T152T	CD84_ENST00000368048.3_Silent_p.T152T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Silent_p.T152T|CD84_ENST00000534968.1_Silent_p.T38T|CD84_ENST00000368054.3_Silent_p.T152T|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	152	Ig-like C2-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T152T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCATGTCAGTGTGACATTAC	0.458																																							uc001fwh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(454-456)ACA>ACT		CD84 molecule							140.0	125.0	130.0					1																	160523869		2203	4300	6503	SO:0001819	synonymous_variant	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523869T>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.456A>T	1.37:g.160523869T>A						CD84_uc001fwf.3_Silent_p.T152T|CD84_uc001fwg.3_Silent_p.T152T|CD84_uc009wtn.2_Silent_p.T152T|CD84_uc001fwi.3_Silent_p.T38T|CD84_uc001fwj.2_Silent_p.T152T|CD84_uc001fwk.2_Silent_p.T152T	p.T152T	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	480	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		152			Extracellular (Potential).|Ig-like C2-type.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	c.456A>T	CCDS53396.1																																																																																				0.458	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		11	286	0	0	0	0.001368	0	11	286				
OLFML2B	25903	broad.mit.edu	37	1	161967727	161967727	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:161967727G>A	ENST00000294794.3	-	6	1785	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	OLFML2B_ENST00000367940.2_Silent_p.P455P	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	454					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.P454P(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)			TGACTGTGGTGGGAGGCACTG	0.622																																							uc001gbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1360-1362)CCC>CCT		olfactomedin-like 2B precursor							103.0	97.0	99.0					1																	161967727		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967727G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1362C>T	1.37:g.161967727G>A						OLFML2B_uc010pkq.1_Silent_p.P455P	p.P454P	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1786	-	all_hematologic(112;0.156)		454					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1362C>T	CCDS1236.1																																																																																				0.622	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		24	322	0	0	0	0.009535	0	24	322				
DUSP27	92235	broad.mit.edu	37	1	167095983	167095983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:167095983G>T	ENST00000361200.2	+	6	1781	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	DUSP27_ENST00000271385.5_Missense_Mutation_p.D539Y|DUSP27_ENST00000443333.1_Missense_Mutation_p.D539Y|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	539					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D539Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGGAACAAGGACAAGCTCAC	0.552																																							uc001geb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1615-1617)GAC>TAC		dual specificity phosphatase 27							92.0	89.0	90.0					1																	167095983		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095983G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1615G>T	1.37:g.167095983G>T	ENSP00000354483:p.Asp539Tyr						p.D539Y	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1615	+			539					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1615G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920222	0.73098	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04862	3.54;3.54;3.54	5.29	5.29	0.74685	.	0.080066	0.48767	D	0.000179	T	0.15955	0.0384	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	P	0.60789	0.879	T	0.00804	-1.1559	10	0.87932	D	0	-28.9485	18.9544	0.92653	0.0:0.0:1.0:0.0	.	539	Q5VZP5	DUS27_HUMAN	Y	539	ENSP00000354483:D539Y;ENSP00000271385:D539Y;ENSP00000404874:D539Y	ENSP00000271385:D539Y	D	+	1	0	DUSP27	165362607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.452000	0.73485	2.453000	0.82957	0.643000	0.83706	GAC		0.552	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		26	218	1	0	1.5548e-18	0.005443	2.35832e-18	26	218				
F5	2153	broad.mit.edu	37	1	169484771	169484771	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:169484771C>G	ENST00000367797.3	-	24	6640	c.6439G>C	c.(6439-6441)Gaa>Caa	p.E2147Q	F5_ENST00000367796.3_Missense_Mutation_p.E2152Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2147	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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.E2147Q(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)	ACATACATTTCAGAGGACAGA	0.433																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6439-6441)GAA>CAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						177.0	165.0	169.0					1																	169484771		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.chr1:169484771C>G	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.6439G>C	1.37:g.169484771C>G	ENSP00000356771:p.Glu2147Gln						p.E2147Q	NM_000130	NP_000121	P12259	FA5_HUMAN			24	6584	-	all_hematologic(923;0.208)		2147			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6439G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480365	0.84747	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.82711	-1.64;-1.64	5.61	5.61	0.85477	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.049952	0.85682	D	0.000000	D	0.85115	0.5623	L	0.37561	1.115	0.44652	D	0.997639	D	0.71674	0.998	D	0.68621	0.959	D	0.85502	0.1192	9	0.52906	T	0.07	-24.8747	19.223	0.93806	0.0:1.0:0.0:0.0	.	2147	P12259	FA5_HUMAN	Q	2147;2152	ENSP00000356771:E2147Q;ENSP00000356770:E2152Q	ENSP00000356770:E2152Q	E	-	1	0	F5	167751395	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.455000	0.73497	2.635000	0.89317	0.467000	0.42956	GAA		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		28	297	0	0	0	0.004656	0	28	297				
F5	2153	broad.mit.edu	37	1	169515796	169515796	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:169515796G>A	ENST00000367797.3	-	11	1847	c.1646C>T	c.(1645-1647)gCt>gTt	p.A549V	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Missense_Mutation_p.A549V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	549	F5/8 type A 2.|Plastocyanin-like 4.				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.A549V(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)	ATCAAACACAGCAAACACAGC	0.433																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1645-1647)GCT>GTT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						176.0	138.0	151.0					1																	169515796		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.chr1:169515796G>A	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.1646C>T	1.37:g.169515796G>A	ENSP00000356771:p.Ala549Val					F5_uc010plr.1_RNA	p.A549V	NM_000130	NP_000121	P12259	FA5_HUMAN			11	1791	-	all_hematologic(923;0.208)		549			Plastocyanin-like 4.|F5/8 type A 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1646C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	g	36	5.621267	0.96660	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98732	-5.1;-5.1	6.17	6.17	0.99709	Cupredoxin (2);	0.108809	0.64402	D	0.000006	D	0.99251	0.9739	M	0.84683	2.71	0.36799	D	0.885242	D	0.76494	0.999	D	0.68765	0.96	D	0.99509	1.0955	9	0.72032	D	0.01	-22.7622	20.8794	0.99867	0.0:0.0:1.0:0.0	.	549	P12259	FA5_HUMAN	V	549	ENSP00000356771:A549V;ENSP00000356770:A549V	ENSP00000356770:A549V	A	-	2	0	F5	167782420	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	GCT		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		14	176	0	0	0	0.003163	0	14	176				
PAPPA2	60676	broad.mit.edu	37	1	176661380	176661380	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:176661380T>C	ENST00000367662.3	+	6	3714	c.2550T>C	c.(2548-2550)ccT>ccC	p.P850P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	850					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.P850P(1)		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						CCATTCCACCTATGGTCATCG	0.517																																							uc001gkz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2548-2550)CCT>CCC		pappalysin 2 isoform 1							160.0	167.0	164.0					1																	176661380		2073	4211	6284	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661380T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2550T>C	1.37:g.176661380T>C						PAPPA2_uc009www.2_RNA	p.P850P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3714	+			850					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2550T>C	CCDS41438.1																																																																																				0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			46	253	0	0	0	0.00361	0	46	253				
RASAL2	9462	broad.mit.edu	37	1	178426890	178426890	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:178426890G>T	ENST00000462775.1	+	12	2165	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	RASAL2_ENST00000448150.3_Silent_p.L810L|RASAL2_ENST00000367649.3_Silent_p.L821L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	680					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.L821L(1)|p.L810L(1)|p.L680L(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CATTATTGCTGGTTCAGCAAG	0.448																																							uc001glr.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2038-2040)CTG>CTT		RAS protein activator like 2 isoform 1							94.0	89.0	91.0					1																	178426890		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178426890G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2040G>T	1.37:g.178426890G>T						RASAL2_uc001glq.2_Silent_p.L821L|RASAL2_uc009wxc.2_Silent_p.L194L	p.L680L	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2165	+			680					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2040G>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	5.230	0.227932	0.09916	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.7	2.76	0.32466	.	.	.	.	.	T	0.57770	0.2076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52147	-0.8614	4	.	.	.	.	8.3518	0.32307	0.0684:0.0:0.5308:0.4008	.	.	.	.	C	231	.	.	G	+	1	0	RASAL2	176693513	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.811000	0.47986	0.728000	0.32382	0.655000	0.94253	GGT		0.448	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		17	160	1	0	3.41278e-10	0.00499	4.64178e-10	17	160				
TOR1AIP1	26092	broad.mit.edu	37	1	179887338	179887338	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:179887338A>T	ENST00000606911.2	+	10	1907	c.1716A>T	c.(1714-1716)caA>caT	p.Q572H	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.Q573H|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.Q451H|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.Q588H			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	572	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)	p.Q572H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TGCCTGTGCAACCTGAAAATG	0.433																																							uc001gnq.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1714-1716)CAA>CAT		lamina-associated polypeptide 1B							48.0	50.0	50.0					1																	179887338		2202	4300	6502	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179887338A>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1716A>T	1.37:g.179887338A>T	ENSP00000476687:p.Gln572His						p.Q572H	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			10	1934	+			572			Lumenal (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.1716A>T	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621704	0.66787	.	.	ENSG00000143337	ENST00000325993;ENST00000271583;ENST00000435319	T;T	0.33438	1.41;1.41	5.96	-8.34	0.00988	.	0.430031	0.25581	N	0.029688	T	0.44582	0.1300	M	0.64170	1.965	0.09310	N	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.54029	-0.8354	9	.	.	.	-6.4637	16.7694	0.85533	0.1118:0.1891:0.6991:0.0	.	572	Q5JTV8	TOIP1_HUMAN	H	367;588;572	ENSP00000271583:Q588H;ENSP00000393292:Q572H	.	Q	+	3	2	TOR1AIP1	178153961	0.202000	0.23423	0.119000	0.21687	0.977000	0.68977	-0.196000	0.09532	-1.565000	0.01676	0.533000	0.62120	CAA		0.433	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		14	126	0	0	0	0.007413	0	14	126				
LHX4	89884	broad.mit.edu	37	1	180243566	180243566	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:180243566C>G	ENST00000263726.2	+	6	1269	c.1025C>G	c.(1024-1026)gCg>gGg	p.A342G	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	342					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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.A342G(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGCATCATTGCGCATGCAGGG	0.572																																							uc001goe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)GCG>GGG		LIM homeobox protein 4							239.0	227.0	231.0					1																	180243566		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243566C>G	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.1025C>G	1.37:g.180243566C>G	ENSP00000263726:p.Ala342Gly					uc001gof.1_Intron	p.A342G	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			6	1248	+			342					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.1025C>G	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815809	0.32145	.	.	ENSG00000121454	ENST00000263726	D	0.88586	-2.4	5.68	5.68	0.88126	.	0.251286	0.39909	N	0.001231	T	0.78097	0.4230	N	0.05124	-0.11	0.37089	D	0.899368	B	0.06786	0.001	B	0.08055	0.003	T	0.74506	-0.3643	10	0.21540	T	0.41	.	16.7056	0.85371	0.0:1.0:0.0:0.0	.	342	Q969G2	LHX4_HUMAN	G	342	ENSP00000263726:A342G	ENSP00000263726:A342G	A	+	2	0	LHX4	178510189	0.865000	0.29922	1.000000	0.80357	0.995000	0.86356	1.472000	0.35376	2.662000	0.90505	0.655000	0.94253	GCG		0.572	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		87	447	0	0	0	0.00361	0	87	447				
CACNA1E	777	broad.mit.edu	37	1	181741231	181741231	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:181741231T>C	ENST00000367573.2	+	37	5003	c.5003T>C	c.(5002-5004)aTt>aCt	p.I1668T	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1668T|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1619T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1649T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1600T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1649T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1275T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1668					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.I1668T(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						TGGCAGGAGATTATGCTGTCA	0.567																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5002-5004)ATT>ACT		calcium channel, voltage-dependent, R type,							110.0	113.0	112.0					1																	181741231		2167	4287	6454	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741231T>C	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.5003T>C	1.37:g.181741231T>C	ENSP00000356545:p.Ile1668Thr					CACNA1E_uc009wxs.2_Missense_Mutation_p.I1556T|CACNA1E_uc001gox.1_Missense_Mutation_p.I894T|CACNA1E_uc009wxt.2_Missense_Mutation_p.I894T	p.I1668T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			37	5168	+			1668			Extracellular (Potential).|IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5003T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943236	0.92593	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.85130	0.992;0.997;0.99	D	0.99824	1.1049	10	0.87932	D	0	.	15.7581	0.78054	0.0:0.0:0.0:1.0	.	1649;1668;1668	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1668;1649;1619;1600;1275;1649;1668	ENSP00000356542:I1668T;ENSP00000434814:I1649T;ENSP00000350183:I1619T;ENSP00000351101:I1600T;ENSP00000356539:I1275T;ENSP00000353222:I1649T;ENSP00000356545:I1668T	ENSP00000350183:I1619T	I	+	2	0	CACNA1E	180007854	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	7.922000	0.87538	2.210000	0.71456	0.523000	0.50628	ATT		0.567	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		48	63	0	0	0	0.00361	0	48	63				
ZNF648	127665	broad.mit.edu	37	1	182025857	182025857	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:182025857G>A	ENST00000339948.3	-	2	1496	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	430					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.T430I(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGAGGACTTGGTGAAGCACTT	0.692																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1288-1290)ACC>ATC		zinc finger protein 648							33.0	34.0	33.0					1																	182025857		2197	4297	6494	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025857G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1289C>T	1.37:g.182025857G>A	ENSP00000344129:p.Thr430Ile						p.T430I	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1497	-			430			C2H2-type 6.		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.1289C>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670446	0.47781	.	.	ENSG00000179930	ENST00000339948	T	0.19806	2.12	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19087	0.0458	L	0.39633	1.23	0.42735	D	0.993729	B	0.19445	0.036	B	0.26202	0.067	T	0.09487	-1.0672	9	0.48119	T	0.1	.	11.7619	0.51908	0.0:0.0:1.0:0.0	.	430	Q5T619	ZN648_HUMAN	I	430	ENSP00000344129:T430I	ENSP00000344129:T430I	T	-	2	0	ZNF648	180292480	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.751000	0.26348	1.863000	0.54032	0.561000	0.74099	ACC		0.692	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	8	0	0	0	0.004672	0	3	8				
PRG4	10216	broad.mit.edu	37	1	186270816	186270816	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:186270816C>G	ENST00000445192.2	+	4	337	c.292C>G	c.(292-294)Ccc>Gcc	p.P98A	PRG4_ENST00000367484.3_Missense_Mutation_p.P57A|PRG4_ENST00000367486.3_Missense_Mutation_p.P98A|PRG4_ENST00000367483.4_Missense_Mutation_p.P57A|PRG4_ENST00000367485.4_Missense_Mutation_p.P98A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	98	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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.P98A(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						CAAGTGCTGTCCCGATTATGA	0.493																																							uc001gru.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(292-294)CCC>GCC		proteoglycan 4 isoform A							192.0	156.0	168.0					1																	186270816		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186270816C>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.292C>G	1.37:g.186270816C>G	ENSP00000399679:p.Pro98Ala					PRG4_uc001grt.3_Missense_Mutation_p.P57A|PRG4_uc009wyl.2_Missense_Mutation_p.P98A|PRG4_uc009wym.2_Missense_Mutation_p.P57A|PRG4_uc010poo.1_RNA	p.P98A	NM_005807	NP_005798	Q92954	PRG4_HUMAN			4	343	+			98			SMB 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.292C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290674	0.40494	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.62	-8.03	0.01114	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.486738	0.17158	N	0.184820	T	0.19167	0.0460	N	0.17345	0.48	0.20074	N	0.999939	B;B;B;B	0.31193	0.312;0.096;0.117;0.096	B;B;B;B	0.33568	0.103;0.103;0.166;0.103	T	0.24941	-1.0146	10	0.07175	T	0.84	0.558	13.2083	0.59809	0.0:0.8112:0.0902:0.0986	.	57;98;98;57	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	98;57;57;57;57;98;98	ENSP00000356456:P98A;ENSP00000356454:P57A;ENSP00000431330:P57A;ENSP00000356452:P57A;ENSP00000356453:P57A;ENSP00000356455:P98A;ENSP00000399679:P98A	ENSP00000356452:P57A	P	+	1	0	PRG4	184537439	0.008000	0.16893	0.000000	0.03702	0.327000	0.28475	0.202000	0.17295	-1.647000	0.01511	0.585000	0.79938	CCC		0.493	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		19	96	0	0	0	0.007413	0	19	96				
PLA2G4A	5321	broad.mit.edu	37	1	186909161	186909161	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:186909161A>C	ENST00000367466.3	+	10	1120	c.968A>C	c.(967-969)cAa>cCa	p.Q323P	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Q263P	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	323	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.Q323P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AATACTGCACAATGCCCTTTA	0.383																																							uc001gsc.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(967-969)CAA>CCA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						162.0	152.0	155.0					1																	186909161		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186909161A>C	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.968A>C	1.37:g.186909161A>C	ENSP00000356436:p.Gln323Pro					PLA2G4A_uc010pos.1_Missense_Mutation_p.Q263P	p.Q323P	NM_024420	NP_077734	P47712	PA24A_HUMAN			10	1173	+			323			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.968A>C	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246356	0.39697	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.12984	2.63;2.63	5.67	4.58	0.56647	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.050138	0.85682	D	0.000000	T	0.25754	0.0627	M	0.85777	2.775	0.51482	D	0.999924	B;B	0.26708	0.157;0.132	B;B	0.38264	0.269;0.207	T	0.03981	-1.0987	10	0.72032	D	0.01	-8.6197	7.8684	0.29552	0.8931:0.0:0.1069:0.0	.	263;323	E7EU42;P47712	.;PA24A_HUMAN	P	323;263	ENSP00000356436:Q323P;ENSP00000406892:Q263P	ENSP00000356436:Q323P	Q	+	2	0	PLA2G4A	185175784	1.000000	0.71417	0.046000	0.18839	0.321000	0.28281	4.391000	0.59652	1.037000	0.40024	0.528000	0.53228	CAA		0.383	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		17	138	0	0	0	0.007413	0	17	138				
BRINP3	339479	broad.mit.edu	37	1	190233997	190233997	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:190233997T>C	ENST00000367462.3	-	4	847	c.616A>G	c.(616-618)Aag>Gag	p.K206E	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Missense_Mutation_p.K104E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	206	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.K206E(1)									ATTCTTACCTTTATGGCAGTG	0.388																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(616-618)AAG>GAG		family with sequence similarity 5, member C							111.0	114.0	113.0					1																	190233997		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190233997T>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.616A>G	1.37:g.190233997T>C	ENSP00000356432:p.Lys206Glu					FAM5C_uc010pot.1_Missense_Mutation_p.K104E	p.K206E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			4	848	-	Prostate(682;0.198)		206					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.616A>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421408	0.83559	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23950	2.14;1.88	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.48433	-0.9036	10	0.87932	D	0	.	13.8337	0.63398	0.0:0.0:0.0:1.0	.	104;206	B7Z260;Q76B58	.;FAM5C_HUMAN	E	206;104	ENSP00000356432:K206E;ENSP00000438022:K104E	ENSP00000356432:K206E	K	-	1	0	FAM5C	188500620	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	7.539000	0.82063	2.159000	0.67721	0.477000	0.44152	AAG		0.388	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		40	82	0	0	0	0.00361	0	40	82				
KCNT2	343450	broad.mit.edu	37	1	196309513	196309513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:196309513C>A	ENST00000294725.9	-	16	2656	c.1741G>T	c.(1741-1743)Gga>Tga	p.G581*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.G192*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.G581*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.G531*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.G531*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	581					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.G581*(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						CTGGAAGGTCCATGATAAAAC	0.294																																							uc001gtd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1741-1743)GGA>TGA		potassium channel, subfamily T, member 2							115.0	108.0	111.0					1																	196309513		2203	4300	6503	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309513C>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.1741G>T	1.37:g.196309513C>A	ENSP00000294725:p.Gly581*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.G531*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.G581*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.G581*|KCNT2_uc001gth.1_Nonsense_Mutation_p.G102*	p.G581*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1801	-			581			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.1741G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.923694	0.97110	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-20.9415	20.13	0.97997	0.0:1.0:0.0:0.0	.	.	.	.	X	581;531;402;192;581	.	ENSP00000294725:G581X	G	-	1	0	KCNT2	194576136	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.900000	0.63252	2.751000	0.94390	0.650000	0.86243	GGA		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	151	1	0	0.000602214	0.000602	0.000665384	4	151				
ASPM	259266	broad.mit.edu	37	1	197072642	197072642	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:197072642G>A	ENST00000367409.4	-	18	5995	c.5739C>T	c.(5737-5739)gcC>gcT	p.A1913A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1913	IQ 11. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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.A1913A(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						ACTGTTTCTGGGCCTTGGCCA	0.438																																							uc001gtu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(5737-5739)GCC>GCT		asp (abnormal spindle)-like, microcephaly							106.0	110.0	108.0					1																	197072642		2203	4297	6500	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072642G>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.5739C>T	1.37:g.197072642G>A						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.A1913A	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	5996	-			1913			IQ 11.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5739C>T	CCDS1389.1																																																																																				0.438	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		33	170	0	0	0	0.002096	0	33	170				
CAMSAP2	23271	broad.mit.edu	37	1	200817337	200817337	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:200817337A>G	ENST00000236925.4	+	12	1522	c.1473A>G	c.(1471-1473)gaA>gaG	p.E491E	CAMSAP2_ENST00000358823.2_Silent_p.E480E|CAMSAP2_ENST00000413307.2_Silent_p.E464E			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	491					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.E480E(1)									TAAATGGAGAAGAGGAAGCAG	0.353																																							uc001gvl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1471-1473)GAA>GAG		calmodulin regulated spectrin-associated protein							86.0	91.0	89.0					1																	200817337		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200817337A>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1473A>G	1.37:g.200817337A>G						CAMSAP1L1_uc001gvk.2_Silent_p.E480E|CAMSAP1L1_uc001gvm.2_Silent_p.E464E	p.E491E	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	1743	+			491					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.1473A>G																																																																																					0.353	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		12	72	0	0	0	0.001855	0	12	72				
ELK4	2005	broad.mit.edu	37	1	205589269	205589269	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:205589269T>A	ENST00000357992.4	-	3	1244	c.905A>T	c.(904-906)gAc>gTc	p.D302V	ELK4_ENST00000289703.4_Missense_Mutation_p.D302V|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	302					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.D302V(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGAATCCTGGTCTTTAGGCTC	0.458			T	SLC45A3	prostate																																		uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		2	Substitution - Missense(2)		lung(2)		0						c.(904-906)GAC>GTC		ELK4 protein isoform a							110.0	118.0	115.0					1																	205589269		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589269T>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.905A>T	1.37:g.205589269T>A	ENSP00000350681:p.Asp302Val					ELK4_uc001hcz.2_Missense_Mutation_p.D302V	p.D302V	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	2155	-	Breast(84;0.07)		302					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.905A>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814134	0.32053	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.32023	1.69;1.47	5.91	4.79	0.61399	.	0.637255	0.17997	N	0.155040	T	0.18467	0.0443	N	0.08118	0	0.44702	D	0.997697	P;B	0.42203	0.773;0.437	B;B	0.43274	0.414;0.157	T	0.04708	-1.0932	10	0.22109	T	0.4	.	10.728	0.46079	0.0:0.0746:0.0:0.9254	.	302;302	P28324-2;P28324	.;ELK4_HUMAN	V	392;302;302	ENSP00000350681:D302V;ENSP00000289703:D302V	ENSP00000289703:D302V	D	-	2	0	ELK4	203855892	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.741000	0.62095	1.082000	0.41137	0.533000	0.62120	GAC		0.458	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		12	224	0	0	0	0.000978	0	12	224				
SRGAP2	23380	broad.mit.edu	37	1	206566979	206566979	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:206566979C>T	ENST00000414007.1	+	3	360	c.360C>T	c.(358-360)acC>acT	p.T120T	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	260	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.T120T(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGGAGGCAACCAATGCATCTG	0.468																																							uc001hdy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)ACC>ACT		SLIT-ROBO Rho GTPase activating protein 2							104.0	93.0	97.0					1																	206566979		1964	4160	6124	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566979C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.360C>T	1.37:g.206566979C>T						SRGAP2_uc009xbt.2_Silent_p.T97T|SRGAP2_uc010prt.1_Silent_p.T97T|SRGAP2_uc001hdx.2_Silent_p.T173T|SRGAP2_uc010pru.1_Silent_p.T97T|SRGAP2_uc010prv.1_Silent_p.T97T	p.T173T	NM_015326	NP_056141	O75044	FNBP2_HUMAN			4	852	+	Breast(84;0.137)		260						Silent	SNP	ENST00000414007.1	37	c.519C>T		.	.	.	.	.	.	.	.	.	.	C	9.738	1.163997	0.21538	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1504	0.59486	0.0:0.9271:0.0:0.0729	.	.	.	.	X	174	.	.	Q	+	1	0	SRGAP2	204633602	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.146000	0.50631	2.705000	0.92388	0.555000	0.69702	CAA		0.468	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		14	126	0	0	0	0.001855	0	14	126				
CR1L	1379	broad.mit.edu	37	1	207890857	207890857	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:207890857G>C	ENST00000508064.2	+	11	1523	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	488	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.G488E(1)|p.G488A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGACACACAGGAACTCCCCTT	0.428																																							uc001hga.3		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(1462-1464)GGA>GCA		complement component (3b/4b) receptor 1-like							112.0	103.0	106.0					1																	207890857		1856	4090	5946	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207890857G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1463G>C	1.37:g.207890857G>C	ENSP00000421736:p.Gly488Ala					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.G488A	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			11	1584	+			488			Sushi 8.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1463G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	8.945	0.966824	0.18659	.	.	ENSG00000197721	ENST00000508064	T	0.22945	1.93	3.01	2.08	0.27032	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.40398	0.1115	M	0.87038	2.855	0.09310	N	1	P	0.42961	0.795	P	0.52957	0.714	T	0.34675	-0.9819	9	0.09338	T	0.73	.	6.8092	0.23794	0.1479:0.0:0.8521:0.0	.	488	Q2VPA4	CR1L_HUMAN	A	488	ENSP00000421736:G488A	ENSP00000421736:G488A	G	+	2	0	CR1L	205957480	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.171000	0.16685	0.555000	0.29079	-0.680000	0.03767	GGA		0.428	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		5	179	0	0	0	0.000602	0	5	179				
HSD11B1	3290	broad.mit.edu	37	1	209878314	209878314	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:209878314C>A	ENST00000367028.2	+	2	196	c.27C>A	c.(25-27)ctC>ctA	p.L9L	HSD11B1_ENST00000367027.3_Silent_p.L9L|HSD11B1_ENST00000261465.1_Silent_p.L9L|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	9					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AATATCTCCTCCCCATTCTGG	0.463																																							uc001hhj.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(25-27)CTC>CTA		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)						106.0	104.0	105.0					1																	209878314		2203	4300	6503	SO:0001819	synonymous_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209878314C>A	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.27C>A	1.37:g.209878314C>A						HSD11B1_uc001hhk.2_Silent_p.L9L	p.L9L	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	2	134	+			9			Helical; Signal-anchor for type II membrane protein; (Potential).		B2R9Z1|D3DT89	Silent	SNP	ENST00000367028.2	37	c.27C>A	CCDS1489.1																																																																																				0.463	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		16	124	1	0	1.3612e-06	0.003163	1.64594e-06	16	124				
IRF6	3664	broad.mit.edu	37	1	209974608	209974608	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:209974608C>T	ENST00000367021.3	-	3	323	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	51					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E51K(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTTTCCTCTTCTTGTTGAGGG	0.438										HNSCC(57;0.16)																													uc001hhq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(151-153)GAA>AAA		interferon regulatory factor 6							84.0	91.0	89.0					1																	209974608		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974608C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.151G>A	1.37:g.209974608C>T	ENSP00000355988:p.Glu51Lys	HNSCC(57;0.16)				IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.E51K	p.E51K	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	414	-			51			IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.151G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494205	0.96339	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98221	-4.8;-4.8	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.86343	2.81	0.80722	D	1	D	0.64830	0.994	D	0.65140	0.932	D	0.99066	1.0832	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	51	O14896	IRF6_HUMAN	K	51	ENSP00000355988:E51K;ENSP00000403855:E51K	.	E	-	1	0	IRF6	208041231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.311000	0.78958	2.941000	0.99782	0.655000	0.94253	GAA		0.438	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		9	204	0	0	0	0.000978	0	9	204				
CENPF	1063	broad.mit.edu	37	1	214819878	214819878	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:214819878A>C	ENST00000366955.3	+	13	7133	c.6965A>C	c.(6964-6966)cAa>cCa	p.Q2322P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2418	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q2322P(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGTCTTACAACAACTGAAG	0.453																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(6964-6966)CAA>CCA		centromere protein F							65.0	68.0	67.0					1																	214819878		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819878A>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6965A>C	1.37:g.214819878A>C	ENSP00000355922:p.Gln2322Pro						p.Q2322P	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7139	+			2418			2-2.|Interaction with NDE1 and NDEL1.|Potential.|2 X 177 AA tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6965A>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399529	0.25291	.	.	ENSG00000117724	ENST00000366955	T	0.43688	0.94	4.84	0.504	0.16946	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	1.002150	0.08049	N	0.996330	T	0.22589	0.0545	N	0.14661	0.345	0.09310	N	1	P	0.34412	0.453	B	0.29785	0.107	T	0.16394	-1.0404	10	0.49607	T	0.09	.	5.1797	0.15154	0.6618:0.1458:0.1924:0.0	.	2418	P49454	CENPF_HUMAN	P	2322	ENSP00000355922:Q2322P	ENSP00000355922:Q2322P	Q	+	2	0	CENPF	212886501	0.002000	0.14202	0.000000	0.03702	0.306000	0.27790	0.880000	0.28159	-0.091000	0.12440	-0.473000	0.04963	CAA		0.453	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		9	160	0	0	0	0.000978	0	9	160				
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	G	A	rs369511538		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:216166438G>A	ENST00000307340.3	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000366943.2_Silent_p.G2243G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9. {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.G2243G(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)		GGGCTGGCACGCCTTCGGGTA	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6727-6729)GGC>GGT		usherin isoform B		G		1,4405	2.1+/-5.4	0,1,2202	201.0	187.0	192.0		6729	-11.8	0.0	1		192	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2243/5203	216166438	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216166438G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6729C>T	1.37:g.216166438G>A		HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234		p.G2243G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7116	-			2243			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6729C>T	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	298	0	0	0	0.003755	0	33	298				
RAB3GAP2	25782	broad.mit.edu	37	1	220345290	220345290	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:220345290A>T	ENST00000358951.2	-	23	2634	c.2518T>A	c.(2518-2520)Tct>Act	p.S840T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	840					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.S840T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACATGCGCAGACAACAGAGCG	0.493																																							uc010puk.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2518-2520)TCT>ACT		rab3 GTPase-activating protein, non-catalytic							107.0	97.0	101.0					1																	220345290		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220345290A>T	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2518T>A	1.37:g.220345290A>T	ENSP00000351832:p.Ser840Thr					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S420T	p.S840T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	23	2682	-			840					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2518T>A	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979086	0.74360	.	.	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.71	1.89	0.25635	.	0.160162	0.56097	D	0.000026	T	0.15478	0.0373	N	0.08118	0	0.21386	N	0.999707	P	0.34955	0.477	B	0.30401	0.115	T	0.09751	-1.0660	10	0.62326	D	0.03	.	13.2062	0.59798	0.6199:0.3801:0.0:0.0	.	840	Q9H2M9	RBGPR_HUMAN	T	840	ENSP00000351832:S840T	ENSP00000351832:S840T	S	-	1	0	RAB3GAP2	218411913	0.990000	0.36364	0.004000	0.12327	0.981000	0.71138	3.052000	0.49893	0.057000	0.16193	0.528000	0.53228	TCT		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		50	59	0	0	0	0.00361	0	50	59				
DEGS1	8560	broad.mit.edu	37	1	224378005	224378005	+	Missense_Mutation	SNP	G	G	C	rs377178997		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:224378005G>C	ENST00000323699.4	+	2	975	c.809G>C	c.(808-810)gGa>gCa	p.G270A	DEGS1_ENST00000391877.3_Missense_Mutation_p.G270A	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	270					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.G270A(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AACATTCCTGGAAAAAGTCTT	0.358																																							uc001hoj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GGA>GCA		degenerative spermatocyte homolog 1, lipid		G	ALA/GLY	0,4406		0,0,2203	40.0	41.0	41.0		809	5.8	1.0	1		41	1,8597		0,1,4298	no	missense	DEGS1	NM_003676.2	60	0,1,6501	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	270/324	224378005	1,13003	2203	4299	6502	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224378005G>C	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.809G>C	1.37:g.224378005G>C	ENSP00000316476:p.Gly270Ala					DEGS1_uc001hoi.2_Missense_Mutation_p.G249A	p.G270A	NM_144780	NP_659004	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	920	+	Breast(184;0.193)		270						Missense_Mutation	SNP	ENST00000323699.4	37	c.809G>C	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996900	0.74818	0.0	1.16E-4	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.16324	2.35;2.35;2.35	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.91635	0.913;0.999	T	0.41840	-0.9486	10	0.18276	T	0.48	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	270;249	O15121;E7EMA0	DEGS1_HUMAN;.	A	249;270;270	ENSP00000400545:G249A;ENSP00000316476:G270A;ENSP00000375749:G270A	ENSP00000316476:G270A	G	+	2	0	DEGS1	222444628	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	9.869000	0.99810	2.747000	0.94245	0.549000	0.68633	GGA		0.358	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			4	129	0	0	0	0.009096	0	4	129				
PSEN2	5664	broad.mit.edu	37	1	227073239	227073239	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:227073239C>T	ENST00000366783.3	+	6	793	c.357C>T	c.(355-357)ctC>ctT	p.L119L	PSEN2_ENST00000391872.2_Splice_Site_p.L152L|PSEN2_ENST00000340188.4_Splice_Site_p.L119L|PSEN2_ENST00000422240.2_Splice_Site_p.L119L|PSEN2_ENST00000472139.2_5'UTR|PSEN2_ENST00000366782.1_Splice_Site_p.L152L	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	119					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.L119L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TCTCCCTCAGCATCTACACGC	0.597																																							uc009xeo.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(355-357)CTC>CTT		presenilin 2 isoform 1							139.0	103.0	116.0					1																	227073239		2203	4300	6503	SO:0001630	splice_region_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227073239C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.357-1C>T	1.37:g.227073239C>T						PSEN2_uc009xep.1_Silent_p.L119L|PSEN2_uc001hqk.2_RNA	p.L119L	NM_000447	NP_000438	P49810	PSN2_HUMAN			6	784	+		Prostate(94;0.0771)	119			Lumenal (Potential).		A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.357C>T	CCDS1556.1																																																																																				0.597	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447	Silent	17	19	0	0	0	0.00499	0	17	19				
JMJD4	65094	broad.mit.edu	37	1	227922419	227922419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:227922419C>A	ENST00000366758.3	-	2	498	c.499G>T	c.(499-501)Gag>Tag	p.E167*	SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000438896.2_Nonsense_Mutation_p.E167*|JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	167								p.E167*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TGTATGTACTCTTTCCAGTAG	0.552																																							uc001hrb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(499-501)GAG>TAG		jumonji domain containing 4 isoform 1							255.0	209.0	225.0					1																	227922419		2203	4300	6503	SO:0001587	stop_gained	65094							g.chr1:227922419C>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.499G>T	1.37:g.227922419C>A	ENSP00000355720:p.Glu167*					SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Nonsense_Mutation_p.E167*	p.E167*	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			2	499	-		Prostate(94;0.0885)	167					Q5TBZ1|Q5TBZ6|Q9H970	Nonsense_Mutation	SNP	ENST00000366758.3	37	c.499G>T	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.023377|6.023377	0.97211|0.97211	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	.|.	.|.	.|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.271361|.	0.41001|.	D|.	0.000974|.	.|T	.|0.65606	.|0.2707	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70644	.|-0.4815	.|4	0.32370|0.36615	T|T	0.25|0.2	-16.4797|-16.4797	15.1825|15.1825	0.72972|0.72972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	167|159	.|.	ENSP00000355720:E167X|ENSP00000387830:K159N	E|K	-|-	1|3	0|2	JMJD4|JMJD4	225989042|225989042	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.973000|0.973000	0.67179|0.67179	7.145000|7.145000	0.77365|0.77365	2.230000|2.230000	0.72887|0.72887	0.555000|0.555000	0.69702|0.69702	GAG|AAG		0.552	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		11	113	1	0	2.31682e-05	0.003163	2.68831e-05	11	113				
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.P740Q(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)				TTCGGTACATGGATTATGCAC	0.433																																							uc001hvg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2218-2220)CCA>CAA		signal-induced proliferation-associated 1 like							184.0	179.0	180.0					1																	232607141		2047	4227	6274	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232607141G>T	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.2219C>A	1.37:g.232607141G>T	ENSP00000355589:p.Pro740Gln						p.P740Q	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			6	2377	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	740			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2219C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261452	0.95368	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93906	-3.31;-3.31	5.68	5.68	0.88126	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	10	0.87932	D	0	-24.1884	20.1594	0.98130	0.0:0.0:1.0:0.0	.	740	Q9P2F8	SI1L2_HUMAN	Q	740	ENSP00000355589:P740Q;ENSP00000262861:P740Q	ENSP00000262861:P740Q	P	-	2	0	SIPA1L2	230673764	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.813000	0.99286	2.843000	0.97960	0.650000	0.86243	CCA		0.433	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		46	283	1	0	9.22156e-22	0.00361	1.45217e-21	46	283				
SIPA1L2	57568	broad.mit.edu	37	1	232626781	232626781	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:232626781C>G	ENST00000366630.1	-	4	2003	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E549Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	549					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E549Q(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)				ATAGCATCTTCTAAAATTGCT	0.423																																							uc001hvg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1645-1647)GAA>CAA		signal-induced proliferation-associated 1 like							67.0	66.0	67.0					1																	232626781		1943	4144	6087	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232626781C>G	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.1645G>C	1.37:g.232626781C>G	ENSP00000355589:p.Glu549Gln						p.E549Q	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			3	1803	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	549					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1645G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428786	0.96131	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93953	-3.32;-3.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97170	0.9075	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97554	1.0094	10	0.87932	D	0	-31.9415	19.1143	0.93331	0.0:1.0:0.0:0.0	.	549	Q9P2F8	SI1L2_HUMAN	Q	549	ENSP00000355589:E549Q;ENSP00000262861:E549Q	ENSP00000262861:E549Q	E	-	1	0	SIPA1L2	230693404	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.593000	0.82686	2.747000	0.94245	0.650000	0.86243	GAA		0.423	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		14	43	0	0	0	0.00499	0	14	43				
EDARADD	128178	broad.mit.edu	37	1	236631557	236631557	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:236631557C>T	ENST00000334232.4	+	5	413	c.246C>T	c.(244-246)agC>agT	p.S82S	EDARADD_ENST00000359362.5_Silent_p.S72S	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	82					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.S82S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCAGATAGCACTGGAGATC	0.378																																							uc001hxu.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)AGC>AGT		EDAR-associated death domain isoform A							149.0	155.0	153.0					1																	236631557		2203	4300	6503	SO:0001819	synonymous_variant	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236631557C>T	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.246C>T	1.37:g.236631557C>T						EDARADD_uc001hxv.1_Silent_p.S72S	p.S82S	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		5	311	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	82					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Silent	SNP	ENST00000334232.4	37	c.246C>T	CCDS1610.1																																																																																				0.378	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		29	114	0	0	0	0.002096	0	29	114				
ACTN2	88	broad.mit.edu	37	1	236912564	236912564	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:236912564G>A	ENST00000366578.4	+	14	1822	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	ACTN2_ENST00000542672.1_Splice_Site_p.Q552Q|ACTN2_ENST00000546208.1_Splice_Site_p.Q46Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	552					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.Q552Q(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGGAGATCCAGGTAATGGAAC	0.423																																							uc001hyf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1654-1656)CAG>CAA		actinin, alpha 2							93.0	82.0	86.0					1																	236912564		2203	4300	6503	SO:0001630	splice_region_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236912564G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1656+1G>A	1.37:g.236912564G>A						ACTN2_uc001hyg.2_Silent_p.Q344Q|ACTN2_uc009xgi.1_Silent_p.Q552Q|ACTN2_uc010pxu.1_Silent_p.Q241Q|ACTN2_uc001hyh.2_Silent_p.Q240Q	p.Q552Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		14	1860	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	552			Spectrin 3.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1656G>A	CCDS1613.1																																																																																				0.423	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	Silent	4	82	0	0	0	0.009096	0	4	82				
RYR2	6262	broad.mit.edu	37	1	237942011	237942011	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237942011T>A	ENST00000366574.2	+	88	12138	c.11821T>A	c.(11821-11823)Tgg>Agg	p.W3941R	RYR2_ENST00000542537.1_Missense_Mutation_p.W3925R|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.W3947R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3941					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.W3939R(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)			CAGCAGGCTGTGGGATGCTGT	0.448																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11821-11823)TGG>AGG		cardiac muscle ryanodine receptor							109.0	108.0	108.0					1																	237942011		1909	4121	6030	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.chr1:237942011T>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.11821T>A	1.37:g.237942011T>A	ENSP00000355533:p.Trp3941Arg					RYR2_uc010pya.1_Missense_Mutation_p.W356R	p.W3941R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		88	11941	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3941			Helical; Name=M1; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11821T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737981	0.89573	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95238	-3.65;-3.65;-3.65	5.65	5.65	0.86999	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000008	D	0.97408	0.9152	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.98173	1.0453	10	0.87932	D	0	-7.4909	15.866	0.79067	0.0:0.0:0.0:1.0	.	915;3941	B4DGV4;Q92736	.;RYR2_HUMAN	R	3941;3947;3925;915	ENSP00000355533:W3941R;ENSP00000353174:W3947R;ENSP00000443798:W3925R	ENSP00000353174:W3947R	W	+	1	0	RYR2	236008634	1.000000	0.71417	0.976000	0.42696	0.946000	0.59487	7.997000	0.88414	2.145000	0.66743	0.460000	0.39030	TGG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	95	0	0	0	0.000978	0	10	95				
RYR2	6262	broad.mit.edu	37	1	237965182	237965182	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237965182A>T	ENST00000366574.2	+	98	14434	c.14117A>T	c.(14116-14118)cAg>cTg	p.Q4706L	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4690L|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4712L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4706					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.Q4704L(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)			GTGAAGTATCAGATGTGGAAA	0.398																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14116-14118)CAG>CTG		cardiac muscle ryanodine receptor							108.0	99.0	102.0					1																	237965182		1871	4119	5990	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.chr1:237965182A>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.14117A>T	1.37:g.237965182A>T	ENSP00000355533:p.Gln4706Leu					RYR2_uc010pyb.1_Missense_Mutation_p.Q139L	p.Q4706L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		98	14237	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4706					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14117A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822118	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.93076	-3.16;-3.16;-3.16	5.4	5.4	0.78164	.	0.213014	0.29853	U	0.011023	D	0.91768	0.7396	L	0.52759	1.655	0.58432	D	0.999991	B;P	0.37914	0.0;0.611	B;B	0.40165	0.005;0.321	D	0.91466	0.5193	10	0.45353	T	0.12	.	15.4174	0.74980	1.0:0.0:0.0:0.0	.	139;4706	F5H3C7;Q92736	.;RYR2_HUMAN	L	4706;4712;4690;139	ENSP00000355533:Q4706L;ENSP00000353174:Q4712L;ENSP00000443798:Q4690L	ENSP00000353174:Q4712L	Q	+	2	0	RYR2	236031805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.043000	0.60533	0.533000	0.62120	CAG		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	40	0	0	0	0.004672	0	3	40				
RYR2	6262	broad.mit.edu	37	1	237982399	237982399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237982399G>C	ENST00000366574.2	+	101	14814	c.14497G>C	c.(14497-14499)Gac>Cac	p.D4833H	RYR2_ENST00000542537.1_Missense_Mutation_p.D4817H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4839H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4833					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.D4831H(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)			TGAAATCGAAGACCCAGCAGG	0.413																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14497-14499)GAC>CAC		cardiac muscle ryanodine receptor							226.0	224.0	225.0					1																	237982399		1937	4141	6078	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.chr1:237982399G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14497G>C	1.37:g.237982399G>C	ENSP00000355533:p.Asp4833His					RYR2_uc010pyb.1_Missense_Mutation_p.D266H	p.D4833H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14617	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4833					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14497G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841508	0.91197	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.91843	-2.92;-2.92;-2.92	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.64402	U	0.000009	D	0.95617	0.8575	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.91635	0.919;0.999	D	0.95714	0.8760	10	0.87932	D	0	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	266;4833	F5H3C7;Q92736	.;RYR2_HUMAN	H	4833;4839;4817;266	ENSP00000355533:D4833H;ENSP00000353174:D4839H;ENSP00000443798:D4817H	ENSP00000353174:D4839H	D	+	1	0	RYR2	236049022	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.813000	0.99286	2.630000	0.89119	0.655000	0.94253	GAC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	92	0	0	0	0.00278	0	24	92				
ZP4	57829	broad.mit.edu	37	1	238053192	238053192	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:238053192C>A	ENST00000366570.4	-	3	533	c.375G>T	c.(373-375)ctG>ctT	p.L125L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	125					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.L125L(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)			GACACTTGAGCAGCTTCCTCT	0.562																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(373-375)CTG>CTT		zona pellucida glycoprotein 4 preproprotein							228.0	232.0	230.0					1																	238053192		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:238053192C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.375G>T	1.37:g.238053192C>A						LOC100130331_uc010pyc.1_Intron	p.L125L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	375	-	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)	125			Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.375G>T	CCDS1615.1																																																																																				0.562	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			14	511	1	0	1.5739e-10	0.004007	2.1624e-10	14	511				
FMN2	56776	broad.mit.edu	37	1	240370957	240370957	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:240370957C>T	ENST00000319653.9	+	5	3075	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	949	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1092S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCCTCTACCCGGAGCGGC	0.692																																							uc010pyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2845-2847)CCC>TCC		formin 2							25.0	30.0	28.0					1																	240370957		2201	4296	6497	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370957C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2845C>T	1.37:g.240370957C>T	ENSP00000318884:p.Pro949Ser					FMN2_uc010pye.1_Missense_Mutation_p.P953S	p.P949S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3070	+	Ovarian(103;0.127)	all_cancers(173;0.013)	949			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2845C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930727	0.34096	.	.	ENSG00000155816	ENST00000319653	T	0.54675	0.56	4.17	4.17	0.49024	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.73401	0.3582	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.77648	-0.2509	8	.	.	.	.	12.3057	0.54900	0.0:1.0:0.0:0.0	.	949	Q9NZ56	FMN2_HUMAN	S	949	ENSP00000318884:P949S	.	P	+	1	0	FMN2	238437580	0.002000	0.14202	0.058000	0.19502	0.001000	0.01503	0.548000	0.23314	2.350000	0.79820	0.472000	0.43445	CCC		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		12	61	0	0	0	0.004007	0	12	61				
SMYD3	64754	broad.mit.edu	37	1	245912930	245912930	+	Missense_Mutation	SNP	G	G	T	rs199766172		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:245912930G>T	ENST00000388985.4	-	12	1221	c.1222C>A	c.(1222-1224)Cac>Aac	p.H408N	SMYD3_ENST00000490107.1_Missense_Mutation_p.H349N|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.H349N			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	408					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.H349N(1)|p.H408N(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ATCAGGCTGTGTTCTCTGCCA	0.463																																							uc001ibl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1222-1224)CAC>AAC		SET and MYND domain containing 3							140.0	114.0	123.0					1																	245912930		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:245912930G>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1222C>A	1.37:g.245912930G>T	ENSP00000373637:p.His408Asn					SMYD3_uc001ibk.2_Missense_Mutation_p.H349N|SMYD3_uc001ibi.2_3'UTR|SMYD3_uc001ibj.2_Missense_Mutation_p.H219N	p.H408N	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	12	1317	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	408					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.1222C>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460855	0.63513	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985	T;T;T	0.29397	1.57;1.57;1.57	5.41	5.41	0.78517	.	0.116800	0.64402	D	0.000019	T	0.38532	0.1044	M	0.67700	2.07	0.52501	D	0.999958	B	0.29115	0.233	B	0.35727	0.209	T	0.13710	-1.0499	10	0.25106	T	0.35	-4.2431	17.3984	0.87452	0.0:0.0:1.0:0.0	.	408	Q9H7B4	SMYD3_HUMAN	N	349;349;238;408	ENSP00000444184:H349N;ENSP00000419184:H349N;ENSP00000373637:H408N	ENSP00000373637:H408N	H	-	1	0	SMYD3	243979553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.538000	0.85594	0.563000	0.77884	CAC		0.463	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		11	71	1	0	6.42651e-13	0.000978	9.20292e-13	11	71				
OR2W5	441932	broad.mit.edu	37	1	247654812	247654812	+	RNA	SNP	G	G	T	rs369336666		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247654812G>T	ENST00000522351.1	+	0	443							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R128L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCGTCTGCCGGTCCCTGCAC	0.587																																							uc001icz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(382-384)CGG>CTG		olfactory receptor, family 2, subfamily W,							103.0	85.0	91.0					1																	247654812		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654812G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654812G>T							p.R128L	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	383	+	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	128					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.383G>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		63	58	1	0	1.1397e-45	0.00361	1.89884e-45	63	58				
OR2G2	81470	broad.mit.edu	37	1	247752015	247752015	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247752015G>T	ENST00000320065.1	+	1	354	c.354G>T	c.(352-354)ccG>ccT	p.P118P	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P118P(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)			GCGTCCTCCCGGCTGTGATGT	0.522																																							uc010pyy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)CCG>CCT		olfactory receptor, family 2, subfamily G,							261.0	209.0	226.0					1																	247752015		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752015G>T	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.354G>T	1.37:g.247752015G>T							p.P118P	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	354	+	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)		118			Helical; Name=3; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.354G>T	CCDS31092.1																																																																																				0.522	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			36	274	1	0	2.75727e-19	0.004878	4.22277e-19	36	274				
OR2G2	81470	broad.mit.edu	37	1	247752598	247752598	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247752598G>C	ENST00000320065.1	+	1	937	c.937G>C	c.(937-939)Gga>Cga	p.G313R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G313R(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)			AAAGGCTCTGGGAGtaaatat	0.318																																							uc010pyy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GGA>CGA		olfactory receptor, family 2, subfamily G,							38.0	42.0	40.0					1																	247752598		2168	4272	6440	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752598G>C	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.937G>C	1.37:g.247752598G>C	ENSP00000326349:p.Gly313Arg						p.G313R	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	937	+	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)		313			Cytoplasmic (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.937G>C	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.527963	0.13127	.	.	ENSG00000177489	ENST00000320065	T	0.00004	9.81	3.45	-5.43	0.02632	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.00563	-1.1669	9	0.36615	T	0.2	.	6.8687	0.24108	0.0:0.3677:0.2719:0.3604	.	313	Q8NGZ5	OR2G2_HUMAN	R	313	ENSP00000326349:G313R	ENSP00000326349:G313R	G	+	1	0	OR2G2	245819221	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.329000	0.02677	-0.927000	0.03766	-0.255000	0.11280	GGA		0.318	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			33	118	0	0	0	0.00874	0	33	118				
OR1C1	26188	broad.mit.edu	37	1	247921241	247921241	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247921241G>T	ENST00000408896.2	-	1	741	c.468C>A	c.(466-468)gcC>gcA	p.A156A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	156					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.A156A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATGCAGGAGGGCGTGGAGGT	0.502																																							uc010pza.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(466-468)GCC>GCA		olfactory receptor, family 1, subfamily C,							64.0	62.0	63.0					1																	247921241		2069	4220	6289	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921241G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.468C>A	1.37:g.247921241G>T							p.A156A	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	468	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	156			Helical; Name=4; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.468C>A	CCDS41481.1																																																																																				0.502	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			7	50	1	0	2.7689e-08	0.001984	3.53762e-08	7	50				
OR11L1	391189	broad.mit.edu	37	1	248004340	248004340	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248004340G>T	ENST00000355784.2	-	1	914	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	287						extracellular vesicular exosome (GO:0070062)|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)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAGATAACTGGGTTCAGCAGT	0.428																																							uc001idn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(859-861)CCA>ACA		olfactory receptor, family 11, subfamily L,							94.0	88.0	90.0					1																	248004340		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004340G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.859C>A	1.37:g.248004340G>T	ENSP00000348033:p.Pro287Thr						p.P287T	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	859	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		287			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.859C>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869795	0.72065	.	.	ENSG00000197591	ENST00000355784	T	0.63913	-0.07	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34291	U	0.004099	T	0.81437	0.4822	M	0.87617	2.895	0.49213	D	0.999763	D	0.76494	0.999	D	0.81914	0.995	D	0.85769	0.1354	10	0.87932	D	0	.	16.5902	0.84763	0.0:0.0:1.0:0.0	.	287	Q8NGX0	O11L1_HUMAN	T	287	ENSP00000348033:P287T	ENSP00000348033:P287T	P	-	1	0	OR11L1	246070963	1.000000	0.71417	0.987000	0.45799	0.772000	0.43724	6.652000	0.74377	2.314000	0.78098	0.543000	0.68304	CCA		0.428	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		7	121	1	0	3.09899e-07	0.004482	3.79566e-07	7	121				
OR2AK2	391191	broad.mit.edu	37	1	248129413	248129413	+	Silent	SNP	G	G	A	rs369499781		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248129413G>A	ENST00000366480.3	+	1	879	c.780G>A	c.(778-780)ctG>ctA	p.L260L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L260L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTCCCACCTGATTGTGGCAA	0.493																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(778-780)CTG>CTA		olfactory receptor, family 2, subfamily AK,		G	,	1,4405		0,1,2202	168.0	132.0	144.0		780,	-1.7	0.0	1		144	0,8600		0,0,4300	no	coding-synonymous,intron	OR2L13,OR2AK2	NM_001004491.1,NM_175911.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	260/336,	248129413	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129413G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.780G>A	1.37:g.248129413G>A						OR2L13_uc001ids.2_Intron	p.L260L	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	780	+	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)		260			Helical; Name=6; (Potential).		B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.780G>A	CCDS31102.1																																																																																				0.493	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		37	58	0	0	0	0.004289	0	37	58				
OR2AK2	391191	broad.mit.edu	37	1	248129470	248129470	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248129470C>T	ENST00000366480.3	+	1	936	c.837C>T	c.(835-837)tcC>tcT	p.S279S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S279S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCACACTCCTTGCGTTCCC	0.478																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(835-837)TCC>TCT		olfactory receptor, family 2, subfamily AK,							167.0	130.0	143.0					1																	248129470		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129470C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.837C>T	1.37:g.248129470C>T						OR2L13_uc001ids.2_Intron	p.S279S	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	837	+	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)		279			Extracellular (Potential).		B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.837C>T	CCDS31102.1																																																																																				0.478	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		43	69	0	0	0	0.002852	0	43	69				
OR2L13	284521	broad.mit.edu	37	1	248153924	248153924	+	Intron	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248153924T>A	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCAATGGCCTATGATCGTTA	0.458																																							uc001idv.1		NA																	0					0						c.(112-114)TAT>AAT		RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;																																				SO:0001627	intron_variant	26247							g.chr1:248153924T>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53238T>A	1.37:g.248153924T>A						OR2L13_uc001ids.2_Intron	p.Y38N	NR_002145						1	356	+								Q5VUR5	Missense_Mutation	SNP	ENST00000366478.2	37	c.112T>A	CCDS1637.1																																																																																				0.458	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911		6	177	0	0	0	0.001984	0	6	177				
OR2L3	391192	broad.mit.edu	37	1	248224139	248224139	+	Silent	SNP	C	C	T	rs113796306	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248224139C>T	ENST00000359959.3	+	1	156	c.156C>T	c.(154-156)acC>acT	p.T52T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T52T(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)			TCTTGGACACCCATCTCCACA	0.403													c|||	2	0.000399361	0.0	0.0	5008	,	,		21348	0.0		0.0	False		,,,				2504	0.002						uc001idx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)ACC>ACT		olfactory receptor, family 2, subfamily L,							329.0	312.0	318.0					1																	248224139		2203	4297	6500	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224139C>T	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.156C>T	1.37:g.248224139C>T						OR2L13_uc001ids.2_Intron	p.T52T	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	156	+	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)		52			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.156C>T	CCDS31104.1																																																																																				0.403	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		44	704	0	0	0	0.00361	0	44	704				
OR2L3	391192	broad.mit.edu	37	1	248224332	248224332	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248224332A>G	ENST00000359959.3	+	1	349	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M117V(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)			TTTGGCATCTATGGCCTATGA	0.438																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)ATG>GTG		olfactory receptor, family 2, subfamily L,							227.0	250.0	242.0					1																	248224332		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224332A>G	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.349A>G	1.37:g.248224332A>G	ENSP00000353044:p.Met117Val					OR2L13_uc001ids.2_Intron	p.M117V	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	349	+	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)		117			Helical; Name=3; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.349A>G	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025240	0.35701	.	.	ENSG00000198128	ENST00000359959	T	0.00995	5.46	2.05	0.818	0.18778	GPCR, rhodopsin-like superfamily (1);	0.198905	0.24580	U	0.037313	T	0.02455	0.0075	M	0.93763	3.455	0.28843	N	0.896516	P	0.41748	0.761	B	0.40038	0.317	T	0.12656	-1.0539	10	0.87932	D	0	.	6.5343	0.22344	0.867:0.0:0.133:0.0	.	117	Q8NG85	OR2L3_HUMAN	V	117	ENSP00000353044:M117V	ENSP00000353044:M117V	M	+	1	0	OR2L3	246290955	0.999000	0.42202	0.017000	0.16124	0.013000	0.08279	4.686000	0.61700	0.053000	0.16036	0.379000	0.24179	ATG		0.438	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		6	410	0	0	0	0.001984	0	6	410				
OR2L13	284521	broad.mit.edu	37	1	248263030	248263031	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248263030_248263031CC>AA	ENST00000358120.2	+	2	498_499	c.353_354CC>AA	c.(352-354)gCC>gAA	p.A118E	OR2L13_ENST00000366478.2_Missense_Mutation_p.A118E			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118E(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTCCATGGCCTACGACCGTT	0.51																																							uc001ids.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(352-354)GCC>GAA		olfactory receptor, family 2, subfamily L,																																				SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263030_248263031CC>AA	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	Exception_encountered	1.37:g.248263030_248263031delinsAA	ENSP00000350836:p.Ala118Glu						p.A118E	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	690_691	+	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)		118			Helical; Name=3; (Potential).		Q5VUR5	Missense_Mutation	DNP	ENST00000358120.2	37	c.353_354CC>AA	CCDS1637.1																																																																																				0.510	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		38	275	0	0	0	0.004672	0	38	275				
OR2M5	127059	broad.mit.edu	37	1	248308564	248308564	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248308564T>A	ENST00000366476.1	+	1	115	c.115T>A	c.(115-117)Ttc>Atc	p.F39I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F39I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TTCAGTGGCCTTCATGGGAAA	0.517																																							uc010pze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(115-117)TTC>ATC		olfactory receptor, family 2, subfamily M,							252.0	246.0	248.0					1																	248308564		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308564T>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.115T>A	1.37:g.248308564T>A	ENSP00000355432:p.Phe39Ile						p.F39I	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	115	+	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).			Missense_Mutation	SNP	ENST00000366476.1	37	c.115T>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	6.292	0.421950	0.11928	.	.	ENSG00000162727	ENST00000366476	T	0.02763	4.17	3.28	-4.1	0.03940	.	1.333000	0.05812	N	0.614187	T	0.00998	0.0033	N	0.00991	-1.07	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.47100	-0.9143	10	0.49607	T	0.09	.	1.9322	0.03329	0.1208:0.1801:0.3591:0.3399	.	39	A3KFT3	OR2M5_HUMAN	I	39	ENSP00000355432:F39I	ENSP00000355432:F39I	F	+	1	0	OR2M5	246375187	0.000000	0.05858	0.808000	0.32385	0.188000	0.23474	-2.947000	0.00680	-0.522000	0.06417	0.403000	0.27427	TTC		0.517	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		100	393	0	0	0	0.00361	0	100	393				
OR2M4	26245	broad.mit.edu	37	1	248402946	248402946	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248402946C>A	ENST00000306687.1	+	1	716	c.716C>A	c.(715-717)aCt>aAt	p.T239N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	239					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.T239N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			AAGGCCTTCACTACCTGCTCC	0.502																																							uc010pzh.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(715-717)ACT>AAT		olfactory receptor, family 2, subfamily M,							119.0	107.0	111.0					1																	248402946		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402946C>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.716C>A	1.37:g.248402946C>A	ENSP00000306688:p.Thr239Asn						p.T239N	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	716	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		239			Helical; Name=6; (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.716C>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	13.48	2.250088	0.39797	.	.	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	1.507160	0.04387	N	0.361831	T	0.00241	0.0007	N	0.21194	0.64	0.21256	N	0.999747	D	0.57571	0.98	P	0.55260	0.772	T	0.62388	-0.6865	10	0.62326	D	0.03	.	11.4227	0.49991	0.0:0.814:0.186:0.0	.	239	Q96R27	OR2M4_HUMAN	N	239	ENSP00000306688:T239N	ENSP00000306688:T239N	T	+	2	0	OR2M4	246469569	0.001000	0.12720	0.321000	0.25320	0.514000	0.34195	0.549000	0.23329	0.678000	0.31325	0.543000	0.68304	ACT		0.502	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		17	86	1	0	2.35188e-11	0.006122	3.29333e-11	17	86				
OR2T3	343173	broad.mit.edu	37	1	248637034	248637034	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248637034A>G	ENST00000359594.2	+	1	408	c.383A>G	c.(382-384)tAt>tGt	p.Y128C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y128C(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TATGACCGATATGCTGCTGTT	0.552																																							uc001iel.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(382-384)TAT>TGT		olfactory receptor, family 2, subfamily T,							46.0	45.0	45.0					1																	248637034		2193	4292	6485	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637034A>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.383A>G	1.37:g.248637034A>G	ENSP00000352604:p.Tyr128Cys						p.Y128C	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	383	+	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)		128			Cytoplasmic (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.383A>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	13.27	2.186159	0.38609	.	.	ENSG00000196539	ENST00000359594	T	0.56444	0.46	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72463	0.3463	M	0.87038	2.855	0.31768	N	0.632483	D	0.89917	1.0	D	0.76071	0.987	T	0.74774	-0.3551	9	0.72032	D	0.01	.	9.3109	0.37903	1.0:0.0:0.0:0.0	.	128	Q8NH03	OR2T3_HUMAN	C	128	ENSP00000352604:Y128C	ENSP00000352604:Y128C	Y	+	2	0	OR2T3	246703657	0.996000	0.38824	0.280000	0.24747	0.138000	0.21146	3.772000	0.55325	0.841000	0.35020	0.156000	0.16432	TAT		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		11	81	0	0	0	0.010504	0	11	81				
CALML3	810	broad.mit.edu	37	10	5566982	5566983	+	De_novo_Start_InFrame	DNP	CG	CG	AT			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:5566982_5566983CG>AT	ENST00000315238.1	+	0	59_60				CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3							extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						GGACAGCAGCCGGGCTGCGGCA	0.688																																					Colon(173;2070 2647 27580 52203)	Colon(173;2070 2647 27580 52203)	uc001iie.1		NA																	0					0						c.(-68--63)GCCGGG>GCATGG		calmodulin-like 3																																						810						calcium ion binding	g.chr10:5566982_5566983CG>AT	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	Exception_encountered	10.37:g.5566982_5566983delinsAT						uc001iid.1_5'Flank		NM_005185	NP_005176	P27482	CALL3_HUMAN			1	59_60	+								B2R9V6|Q5SQI4	Translation_Start_Site	DNP	ENST00000315238.1	37	c.-66_-65CG>AT	CCDS7069.1																																																																																				0.688	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		4	9	0	0	0	0.004672	0	4	9				
FAM171A1	221061	broad.mit.edu	37	10	15296879	15296879	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:15296879C>A	ENST00000378116.4	-	4	425		c.e4-1			NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCGGGCACCTGCAGAGATT	0.552																																							uc001iob.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.e4-1		hypothetical protein LOC221061 precursor							39.0	39.0	39.0					10																	15296879		2203	4300	6503	SO:0001630	splice_region_variant	221061					integral to membrane		g.chr10:15296879C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.419-1G>T	10.37:g.15296879C>A							p.G140_splice	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			4	426	-								D3DRT9|Q32M49|Q8N4I0	Splice_Site	SNP	ENST00000378116.4	37	c.419_splice	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460404	0.84317	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9182	0.92515	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM171A1	15336885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.415000	0.73328	2.545000	0.85829	0.650000	0.86243	.		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	Intron	8	45	1	0	1.06961e-07	0.00308	1.33245e-07	8	45				
FAM188A	80013	broad.mit.edu	37	10	15821093	15821093	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:15821093G>A	ENST00000277632.3	-	15	1456	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Silent_p.P117P	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	412					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P412P(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCTGTAGCATGGGATCTTCAA	0.428																																					Pancreas(159;946 1953 2111 4475 22008)	Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1234-1236)CCC>CCT		chromosome 10 open reading frame 97							155.0	118.0	131.0					10																	15821093		2203	4300	6503	SO:0001819	synonymous_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15821093G>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.1236C>T	10.37:g.15821093G>A						FAM188A_uc001ioe.1_Silent_p.P239P	p.P412P	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			15	1457	-			412					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Silent	SNP	ENST00000277632.3	37	c.1236C>T	CCDS7110.1																																																																																				0.428	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		14	40	0	0	0	0.00245	0	14	40				
CUBN	8029	broad.mit.edu	37	10	16878336	16878337	+	Missense_Mutation	DNP	CC	CC	AA	rs147563157		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:16878336_16878337CC>AA	ENST00000377833.4	-	63	10142_10143	c.10077_10078GG>TT	c.(10075-10080)tcGGct>tcTTct	p.A3360S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3360	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A3360S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTGGCACAGCCGAAGCATTTC	0.396																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10075-10080)TCGGCT>TCTTCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16878336_16878337CC>AA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10077_10078delinsAA	10.37:g.16878336_16878337delinsAA	ENSP00000367064:p.Ala3360Ser						p.A3360S	NM_001081	NP_001072	O60494	CUBN_HUMAN			63	10129_10130	-			3360			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	DNP	ENST00000377833.4	37	c.10077_10078GG>TT	CCDS7113.1																																																																																				0.396	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	97	0	0	0	0.004672	0	10	97				
VIM	7431	broad.mit.edu	37	10	17275676	17275676	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:17275676G>A	ENST00000224237.5	+	3	860	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.E239K			P08670	VIME_HUMAN	vimentin	239	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E239K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAACTCCACGAAGAGGTTAG	0.473																																							uc001iou.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(715-717)GAA>AAA		vimentin							68.0	65.0	66.0					10																	17275676		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275676G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.715G>A	10.37:g.17275676G>A	ENSP00000224237:p.Glu239Lys					VIM_uc001iov.1_Missense_Mutation_p.E239K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E239K|VIM_uc001ioy.1_Missense_Mutation_p.E239K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E239K|VIM_uc001ipc.1_Missense_Mutation_p.E239K	p.E239K	NM_003380	NP_003371	P08670	VIME_HUMAN			4	1128	+			239			Rod.|Coil 1B.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.715G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203337	0.79127	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.90620	-2.7;-2.7;-2.7	6.1	5.21	0.72293	Filament (1);	0.136281	0.32719	N	0.005737	D	0.94245	0.8152	M	0.87180	2.865	0.39747	D	0.971835	D;B;P;D;P	0.60575	0.988;0.229;0.789;0.972;0.904	P;B;B;P;B	0.53360	0.724;0.086;0.37;0.496;0.428	D	0.95525	0.8598	10	0.87932	D	0	.	15.3744	0.74593	0.0662:0.0:0.9338:0.0	.	239;226;226;239;239	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	K	239;239;226;65	ENSP00000446007:E239K;ENSP00000224237:E239K;ENSP00000391842:E65K	ENSP00000224237:E239K	E	+	1	0	VIM	17315682	1.000000	0.71417	0.051000	0.19133	0.027000	0.11550	9.785000	0.99042	1.617000	0.50277	0.632000	0.83419	GAA		0.473	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		13	70	0	0	0	0.001368	0	13	70				
ARMC3	219681	broad.mit.edu	37	10	23235133	23235134	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:23235133_23235134CC>GA	ENST00000298032.5	+	3	193_194	c.109_110CC>GA	c.(109-111)CCa>GAa	p.P37E	ARMC3_ENST00000409049.3_Missense_Mutation_p.P37E|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.P37E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	37						extracellular vesicular exosome (GO:0070062)		p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTTAATTCTCCAGAAGAGGAA	0.317																																							uc001irm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CCA>GAA		armadillo repeat containing 3																																				SO:0001583	missense	219681						binding	g.chr10:23235133_23235134CC>GA	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	Exception_encountered	10.37:g.23235133_23235134delinsGA	ENSP00000298032:p.Pro37Glu					ARMC3_uc010qcv.1_Missense_Mutation_p.P37E|ARMC3_uc010qcw.1_Intron	p.P37E	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			3	192_193	+			37			ARM 1.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	DNP	ENST00000298032.5	37	c.109_110CC>GA	CCDS7142.1																																																																																				0.317	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		39	89	0	0	0	0.004672	0	39	89				
GPR158	57512	broad.mit.edu	37	10	25887875	25887875	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:25887875C>A	ENST00000376351.3	+	11	3679	c.3320C>A	c.(3319-3321)cCt>cAt	p.P1107H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1107					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.P1107H(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						GGAGGTCAGCCTCGTGCAGCC	0.502																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3319-3321)CCT>CAT		G protein-coupled receptor 158 precursor							85.0	89.0	88.0					10																	25887875		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887875C>A	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.3320C>A	10.37:g.25887875C>A	ENSP00000365529:p.Pro1107His					GPR158_uc001isk.2_Missense_Mutation_p.P482H	p.P1107H	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3380	+			1107			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3320C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.683010	0.00745	.	.	ENSG00000151025	ENST00000376351	T	0.59224	0.28	5.79	-3.66	0.04489	.	0.831012	0.10282	N	0.693455	T	0.21631	0.0521	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18053	-1.0349	10	0.15066	T	0.55	.	2.8092	0.05436	0.5091:0.1218:0.2699:0.0992	.	1107	Q5T848	GP158_HUMAN	H	1107	ENSP00000365529:P1107H	ENSP00000365529:P1107H	P	+	2	0	GPR158	25927881	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.064000	0.11636	-0.700000	0.05070	-0.182000	0.12963	CCT		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		22	147	1	0	7.41877e-09	0.001882	9.6088e-09	22	147				
MPP7	143098	broad.mit.edu	37	10	28378646	28378646	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:28378646C>A	ENST00000375732.1	-	12	1336	c.1077G>T	c.(1075-1077)ccG>ccT	p.P359P	MPP7_ENST00000540098.1_Silent_p.P359P|MPP7_ENST00000445954.2_Silent_p.P234P|MPP7_ENST00000375719.3_Silent_p.P359P|MPP7_ENST00000337532.5_Silent_p.P359P			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	359					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.P359P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCGCCGATACGGTGTCACTT	0.383																																							uc001iua.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1075-1077)CCG>CCT		palmitoylated membrane protein 7							351.0	287.0	309.0					10																	28378646		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378646C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1077G>T	10.37:g.28378646C>A						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.P359P|MPP7_uc009xla.2_Silent_p.P359P|MPP7_uc010qdv.1_RNA	p.P359P	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			14	1481	-			359					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1077G>T	CCDS7158.1																																																																																				0.383	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		5	288	1	0	1.024e-07	0.000602	1.27899e-07	5	288				
SVIL	6840	broad.mit.edu	37	10	29782203	29782203	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:29782203G>A	ENST00000355867.4	-	21	4711	c.3959C>T	c.(3958-3960)cCa>cTa	p.P1320L	SVIL_ENST00000375398.2_Missense_Mutation_p.P1320L|SVIL_ENST00000375400.3_Missense_Mutation_p.P894L|SVIL_ENST00000538146.1_Missense_Mutation_p.P112L|SVIL_ENST00000535393.1_Missense_Mutation_p.P234L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1320					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.P1320L(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)				AGGACTTCTTGGCATATTATA	0.468																																							uc001iut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3958-3960)CCA>CTA		supervillin isoform 2							120.0	105.0	110.0					10																	29782203		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29782203G>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.3959C>T	10.37:g.29782203G>A	ENSP00000348128:p.Pro1320Leu					SVIL_uc010qdw.1_Missense_Mutation_p.P234L|SVIL_uc001iuu.1_Missense_Mutation_p.P894L|SVIL_uc009xlc.2_Missense_Mutation_p.P112L	p.P1320L	NM_021738	NP_068506	O95425	SVIL_HUMAN			21	4712	-		Breast(68;0.103)	1320					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3959C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	1.718	-0.497462	0.04291	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.24723	2.75;2.76;2.76;2.66;1.84	4.28	3.38	0.38709	.	0.392405	0.29466	N	0.012076	T	0.23572	0.0570	L	0.55834	1.745	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.14952	-1.0454	10	0.26408	T	0.33	-11.4383	11.7545	0.51868	0.0858:0.0:0.9142:0.0	.	234;112;894;1320	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	894;1320;1320;234;274;112	ENSP00000364549:P894L;ENSP00000364547:P1320L;ENSP00000348128:P1320L;ENSP00000445472:P234L;ENSP00000440343:P112L	ENSP00000348128:P1320L	P	-	2	0	SVIL	29822209	0.993000	0.37304	0.004000	0.12327	0.004000	0.04260	2.895000	0.48648	1.016000	0.39470	0.485000	0.47835	CCA		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			15	47	0	0	0	0.003163	0	15	47				
KIAA1462	57608	broad.mit.edu	37	10	30317933	30317933	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:30317933C>A	ENST00000375377.1	-	3	1245	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	382	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.A382S(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGACCGCTGGCCCCAGCCTTC	0.632																																							uc001iux.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1144-1146)GCC>TCC		hypothetical protein LOC57608							70.0	75.0	73.0					10																	30317933		2032	4183	6215	SO:0001583	missense	57608							g.chr10:30317933C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1144G>T	10.37:g.30317933C>A	ENSP00000364526:p.Ala382Ser					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A244S|KIAA1462_uc009xle.1_Missense_Mutation_p.A382S	p.A382S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1203	-			382			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1144G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112760	0.77210	.	.	ENSG00000165757	ENST00000375377	T	0.16073	2.37	4.72	-1.14	0.09741	.	0.315746	0.32563	N	0.005935	T	0.18002	0.0432	M	0.62723	1.935	0.09310	N	1	P	0.46064	0.872	P	0.48454	0.578	T	0.08289	-1.0729	10	0.52906	T	0.07	-11.4916	2.2678	0.04083	0.1014:0.3689:0.1757:0.3541	.	382	Q9P266	K1462_HUMAN	S	382	ENSP00000364526:A382S	ENSP00000364526:A382S	A	-	1	0	KIAA1462	30357939	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-1.876000	0.01633	0.074000	0.16767	0.561000	0.74099	GCC		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		54	119	1	0	7.77372e-23	0.00361	1.23857e-22	54	119				
ZNF33A	7581	broad.mit.edu	37	10	38343873	38343873	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:38343873A>G	ENST00000458705.2	+	5	976	c.818A>G	c.(817-819)cAc>cGc	p.H273R	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H273R|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H274R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H280R|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	273					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.H273R(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGGACAATCACTATGAATTT	0.388																																							uc001izh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(817-819)CAC>CGC		zinc finger protein 33A isoform b							70.0	68.0	68.0					10																	38343873		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343873A>G	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.818A>G	10.37:g.38343873A>G	ENSP00000387713:p.His273Arg					ZNF33A_uc001izg.2_Missense_Mutation_p.H274R|ZNF33A_uc010qev.1_Missense_Mutation_p.H280R|ZNF33A_uc001izi.1_Intron	p.H273R	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	996	+			273					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.818A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544937	0.13312	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	2.05	-4.09	0.03951	.	0.886718	0.09344	N	0.815034	T	0.03305	0.0096	N	0.12569	0.235	0.21290	N	0.999731	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.12156	0.006;0.007;0.006	T	0.42965	-0.9420	10	0.72032	D	0.01	.	5.5775	0.17231	0.2403:0.6007:0.159:0.0	.	280;273;274	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	274;280;273;273	ENSP00000363747:H274R;ENSP00000402467:H280R;ENSP00000387713:H273R;ENSP00000304268:H273R	ENSP00000304268:H273R	H	+	2	0	ZNF33A	38383879	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	-0.129000	0.10515	-0.965000	0.03591	-0.557000	0.04193	CAC		0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		32	71	0	0	0	0.002445	0	32	71				
ZNF37A	7587	broad.mit.edu	37	10	38407520	38407520	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:38407520G>T	ENST00000361085.5	+	7	1786	c.1441G>T	c.(1441-1443)Gcc>Tcc	p.A481S	ZNF37A_ENST00000351773.3_Missense_Mutation_p.A481S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	481					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.A481S(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCAGAAGTCAGCCCTAATTGT	0.408																																							uc001izk.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1441-1443)GCC>TCC		zinc finger protein 37a							59.0	59.0	59.0					10																	38407520		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407520G>T	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.1441G>T	10.37:g.38407520G>T	ENSP00000354377:p.Ala481Ser					ZNF37A_uc001izl.2_Missense_Mutation_p.A481S|ZNF37A_uc001izm.2_Missense_Mutation_p.A481S	p.A481S	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2260	+			481			C2H2-type 10.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1441G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.262474	0.01445	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.14266	2.52;2.52	2.34	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05227	0.0139	N	0.03224	-0.385	0.09310	N	1	B	0.17667	0.023	B	0.28385	0.089	T	0.45659	-0.9246	9	0.18276	T	0.48	.	3.1598	0.06516	0.174:0.2897:0.5364:0.0	.	481	P17032	ZN37A_HUMAN	S	481	ENSP00000329141:A481S;ENSP00000354377:A481S	ENSP00000329141:A481S	A	+	1	0	ZNF37A	38447526	0.000000	0.05858	0.806000	0.32338	0.500000	0.33767	-3.426000	0.00475	1.313000	0.45069	0.591000	0.81541	GCC		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		17	96	1	0	8.60227e-14	0.004007	1.24884e-13	17	96				
RET	5979	broad.mit.edu	37	10	43596063	43596063	+	Missense_Mutation	SNP	G	G	T	rs570176656	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:43596063G>T	ENST00000355710.3	+	2	462	c.230G>T	c.(229-231)cGc>cTc	p.R77L	RET_ENST00000340058.5_Missense_Mutation_p.R77L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	77			R -> C (in HSCR1). {ECO:0000269|PubMed:10618407}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R77H(1)|p.R77L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGCACGTACCGCACACGGCTG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		2	Substitution - Missense(2)		large_intestine(1)|lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(229-231)CGC>CTC		ret proto-oncogene isoform a	Sunitinib(DB01268)						65.0	54.0	57.0					10																	43596063		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596063G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.230G>T	10.37:g.43596063G>T	ENSP00000347942:p.Arg77Leu					RET_uc001jak.1_Missense_Mutation_p.R77L	p.R77L	NM_020975	NP_066124	P07949	RET_HUMAN			2	420	+		Ovarian(717;0.0423)	77		R -> C (in HSCR1).	Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.230G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	6.249	0.414019	0.11870	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79352	-1.14;-1.26	5.51	3.67	0.42095	.	0.143108	0.47455	D	0.000222	T	0.69233	0.3088	M	0.63843	1.955	0.18873	N	0.999985	B;B	0.24368	0.102;0.03	B;B	0.15484	0.013;0.009	T	0.55704	-0.8099	10	0.26408	T	0.33	.	6.7887	0.23687	0.1475:0.0:0.7108:0.1417	.	77;77	P07949;P07949-2	RET_HUMAN;.	L	77	ENSP00000347942:R77L;ENSP00000344798:R77L	ENSP00000344798:R77L	R	+	2	0	RET	42916069	0.408000	0.25360	0.121000	0.21740	0.008000	0.06430	2.247000	0.43151	0.716000	0.32124	-0.137000	0.14449	CGC		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		12	20	1	0	3.07112e-06	0.000978	3.65297e-06	12	20				
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:55582700C>A	ENST00000320301.6	-	33	5180	c.4786G>T	c.(4786-4788)Gat>Tat	p.D1596Y	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1598Y|PCDH15_ENST00000395438.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					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.D1596Y(1)		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)				TGCTGCAGATCTATGATCTCT	0.468										HNSCC(58;0.16)																													uc001jju.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4786-4788)GAT>TAT		protocadherin 15 isoform CD1-4 precursor							136.0	129.0	131.0					10																	55582700		2203	4299	6502	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.chr10:55582700C>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.4786G>T	10.37:g.55582700C>A	ENSP00000322604:p.Asp1596Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1593Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1556Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1527Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D1603Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1598Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1576Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1573Y	p.D1596Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5181	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1596			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4786G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933634	0.52866	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.68479	-0.21;-0.24;-0.17;-0.25;-0.26;-0.33	5.33	3.49	0.39957	.	.	.	.	.	T	0.73305	0.3570	L	0.46157	1.445	0.49130	D	0.999757	P;D;D;D;D;D;P;D	0.71674	0.949;0.998;0.998;0.998;0.987;0.998;0.949;0.998	P;D;D;D;P;D;P;D	0.64687	0.836;0.928;0.928;0.928;0.896;0.928;0.836;0.928	T	0.74124	-0.3766	9	0.87932	D	0	.	11.7029	0.51581	0.0:0.8539:0.0:0.1461	.	1573;1596;1598;1603;1527;1556;1593;1596	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Y	1556;1598;1573;1596;1593;1603;1527	ENSP00000378820:D1556Y;ENSP00000354950:D1598Y;ENSP00000378821:D1573Y;ENSP00000322604:D1596Y;ENSP00000378818:D1593Y;ENSP00000412628:D1527Y	ENSP00000322604:D1596Y	D	-	1	0	PCDH15	55252706	1.000000	0.71417	0.348000	0.25681	0.738000	0.42128	2.493000	0.45320	0.630000	0.30394	-0.143000	0.13931	GAT		0.468	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	246	1	0	8.12818e-05	0.001984	9.27259e-05	7	246				
PCDH15	65217	broad.mit.edu	37	10	56077052	56077052	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:56077052G>A	ENST00000320301.6	-	8	1249	c.855C>T	c.(853-855)gcC>gcT	p.A285A	PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000373965.2_Silent_p.A285A|PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000395438.1_Silent_p.A285A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	285	Cadherin 3. {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.A285A(2)|p.A290A(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)				ACTCAGGTATGGCAGCTTGAT	0.413										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(853-855)GCC>GCT		protocadherin 15 isoform CD1-4 precursor							120.0	105.0	110.0					10																	56077052		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:56077052G>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.855C>T	10.37:g.56077052G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.A290A|PCDH15_uc010qhr.1_Silent_p.A285A|PCDH15_uc010qhs.1_Silent_p.A290A|PCDH15_uc010qht.1_Silent_p.A285A|PCDH15_uc010qhu.1_Silent_p.A285A|PCDH15_uc001jjv.1_Silent_p.A263A|PCDH15_uc010qhv.1_Silent_p.A285A|PCDH15_uc010qhw.1_Silent_p.A248A|PCDH15_uc010qhx.1_Silent_p.A285A|PCDH15_uc010qhy.1_Silent_p.A290A|PCDH15_uc010qhz.1_Silent_p.A285A|PCDH15_uc010qia.1_Silent_p.A263A|PCDH15_uc010qib.1_Silent_p.A263A|PCDH15_uc001jjw.2_Silent_p.A285A	p.A285A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			8	1250	-		Melanoma(3;0.117)|Lung SC(717;0.238)	285			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.855C>T	CCDS7248.1																																																																																				0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		18	76	0	0	0	0.008871	0	18	76				
FAM13C	220965	broad.mit.edu	37	10	61011385	61011385	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:61011385C>T	ENST00000373868.2	-	13	1671	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	FAM13C_ENST00000277705.6_Silent_p.L548L|FAM13C_ENST00000435852.2_Silent_p.L528L|FAM13C_ENST00000468840.2_Silent_p.L445L|FAM13C_ENST00000373867.3_Silent_p.L444L|FAM13C_ENST00000419214.2_Silent_p.L430L|FAM13C_ENST00000442566.3_Silent_p.L549L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	528								p.L528L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCTTTCCGCAGTCTCTTCT	0.393																																							uc001jkn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1582-1584)CTG>CTA		hypothetical protein LOC220965 isoform 1							151.0	169.0	163.0					10																	61011385		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61011385C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1584G>A	10.37:g.61011385C>T						FAM13C_uc001jko.2_Silent_p.L430L|FAM13C_uc010qid.1_Silent_p.L444L|FAM13C_uc010qie.1_Silent_p.L445L|FAM13C_uc010qif.1_Silent_p.L550L	p.L528L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			14	1718	-			528					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.1584G>A	CCDS7255.1																																																																																				0.393	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			62	207	0	0	0	0.00361	0	62	207				
ANK3	288	broad.mit.edu	37	10	62038579	62038579	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:62038579C>A	ENST00000280772.2	-	4	558	c.367G>T	c.(367-369)Gta>Tta	p.V123L	ANK3_ENST00000503366.1_Missense_Mutation_p.V106L|ANK3_ENST00000373827.2_Missense_Mutation_p.V117L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	123					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V123L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGACTTTTACCACCTCTGCT	0.388																																							uc001jky.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(367-369)GTA>TTA		ankyrin 3 isoform 1							233.0	196.0	209.0					10																	62038579		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62038579C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.367G>T	10.37:g.62038579C>A	ENSP00000280772:p.Val123Leu					ANK3_uc010qih.1_Missense_Mutation_p.V106L|ANK3_uc001jkz.3_Missense_Mutation_p.V117L|ANK3_uc001jlb.1_5'UTR	p.V123L	NM_020987	NP_066267	Q12955	ANK3_HUMAN			4	559	-			123			ANK 2.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.367G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416993	0.96092	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	0.000000	0.38058	N	0.001838	T	0.80523	0.4639	L	0.43646	1.37	0.80722	D	1	D;D;D	0.61697	0.99;0.989;0.987	D;P;D	0.74674	0.909;0.907;0.984	T	0.81369	-0.0964	10	0.87932	D	0	.	19.3981	0.94617	0.0:1.0:0.0:0.0	.	106;117;123	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	L	123;117;106;85;97	ENSP00000280772:V123L;ENSP00000362933:V117L;ENSP00000425236:V106L;ENSP00000426011:V97L	ENSP00000280772:V123L	V	-	1	0	ANK3	61708585	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.585000	0.82584	2.826000	0.97356	0.561000	0.74099	GTA		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	139	1	0	1.08611e-07	0.000978	1.34768e-07	11	139				
RHOBTB1	9886	broad.mit.edu	37	10	62634766	62634766	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:62634766G>A	ENST00000337910.5	-	9	2098	c.1761C>T	c.(1759-1761)gcC>gcT	p.A587A	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Silent_p.A587A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	587					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.A587A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CGCCACTCGTGGCGGCTTTGG	0.512																																							uc001jli.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1759-1761)GCC>GCT		Rho-related BTB domain containing 1							90.0	87.0	88.0					10																	62634766		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62634766G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1761C>T	10.37:g.62634766G>A						RHOBTB1_uc001jlh.2_Silent_p.A587A|RHOBTB1_uc001jlj.2_Silent_p.A587A|RHOBTB1_uc001jlk.2_Silent_p.A587A|RHOBTB1_uc009xpe.1_Silent_p.A525A|RHOBTB1_uc009xpd.2_Silent_p.A52A|RHOBTB1_uc001jll.2_Silent_p.A337A	p.A587A	NM_014836	NP_055651	O94844	RHBT1_HUMAN			10	2199	-	Prostate(12;0.0112)		587						Silent	SNP	ENST00000337910.5	37	c.1761C>T	CCDS7261.1																																																																																				0.512	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			13	95	0	0	0	0.003163	0	13	95				
CTNNA3	29119	broad.mit.edu	37	10	68526032	68526032	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:68526032C>A	ENST00000433211.2	-	9	1445	c.1271G>T	c.(1270-1272)aGg>aTg	p.R424M	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R424M	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R424M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTACAAGCCTGCTGGTGTG	0.408																																							uc009xpn.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1270-1272)AGG>ATG		catenin, alpha 3							194.0	180.0	185.0					10																	68526032		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68526032C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1271G>T	10.37:g.68526032C>A	ENSP00000389714:p.Arg424Met					CTNNA3_uc001jmw.2_Missense_Mutation_p.R424M|CTNNA3_uc001jmx.3_Missense_Mutation_p.R424M	p.R424M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			9	1394	-			424						Missense_Mutation	SNP	ENST00000433211.2	37	c.1271G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125522	0.77436	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000006	T	0.52092	0.1713	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.975;0.998	P;D	0.66196	0.854;0.942	T	0.54146	-0.8337	10	0.87932	D	0	-22.0547	11.6036	0.51017	0.0:0.9203:0.0:0.0797	.	424;424	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	M	424	ENSP00000389714:R424M;ENSP00000362849:R424M	ENSP00000362849:R424M	R	-	2	0	CTNNA3	68196038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.934000	0.70138	2.941000	0.99782	0.655000	0.94253	AGG		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		29	234	1	0	1.39806e-14	0.008361	2.04846e-14	29	234				
TBATA	219793	broad.mit.edu	37	10	72539460	72539460	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:72539460G>A	ENST00000299290.1	-	5	705	c.316C>T	c.(316-318)Cca>Tca	p.P106S	TBATA_ENST00000545575.1_Missense_Mutation_p.P96S|TBATA_ENST00000456372.2_Missense_Mutation_p.P106S	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.P106S(1)									AAGGGGGCTGGAAAATCCCTG	0.562																																							uc001jrj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(316-318)CCA>TCA		stromal protein associated with thymii and lymph							71.0	67.0	68.0					10																	72539460		2203	4300	6503	SO:0001583	missense	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72539460G>A	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.316C>T	10.37:g.72539460G>A	ENSP00000299290:p.Pro106Ser					C10orf27_uc010qjm.1_Missense_Mutation_p.P106S|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.P106S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.P95S|C10orf27_uc009xqj.1_Silent_p.F100F|C10orf27_uc010qjp.1_Missense_Mutation_p.P95S	p.P106S	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			5	706	-			106					A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.316C>T	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774820	0.16051	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T;T;T	0.16196	2.36;2.36;2.36	5.21	2.08	0.27032	.	0.898652	0.09530	N	0.789645	T	0.07413	0.0187	N	0.01410	-0.885	0.09310	N	0.999999	P;P;B;B;B	0.49090	0.545;0.919;0.296;0.131;0.131	B;P;B;B;B	0.46362	0.098;0.514;0.125;0.062;0.062	T	0.25293	-1.0136	10	0.22706	T	0.39	-0.3577	8.4809	0.33043	0.0:0.1465:0.5525:0.301	.	95;95;106;106;106	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;Q96M53	.;.;.;.;SPATL_HUMAN	S	106;93;106;96	ENSP00000299290:P106S;ENSP00000400224:P106S;ENSP00000444940:P96S	ENSP00000299290:P106S	P	-	1	0	C10orf27	72209466	0.023000	0.18921	0.728000	0.30774	0.003000	0.03518	0.056000	0.14256	0.642000	0.30620	0.655000	0.94253	CCA		0.562	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		7	80	0	0	0	0.004482	0	7	80				
CDH23	64072	broad.mit.edu	37	10	73269950	73269950	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:73269950T>A	ENST00000224721.6	+	3	262	c.257T>A	c.(256-258)gTg>gAg	p.V86E	CDH23_ENST00000299366.7_Missense_Mutation_p.V131E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Missense_Mutation_p.V86E|CDH23_ENST00000461841.3_Missense_Mutation_p.V131E|CDH23_ENST00000398809.4_Missense_Mutation_p.V86E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V86E(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACACTGGCGTGGTGTGGCTC	0.617																																							uc001jrx.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(256-258)GTG>GAG		cadherin-like 23 isoform 1 precursor							66.0	76.0	73.0					10																	73269950		1967	4164	6131	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73269950T>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.257T>A	10.37:g.73269950T>A	ENSP00000224721:p.Val86Glu					CDH23_uc001jrw.3_Missense_Mutation_p.V86E|CDH23_uc001jrv.2_Missense_Mutation_p.V81E|CDH23_uc009xql.2_Missense_Mutation_p.V131E	p.V86E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			4	634	+			86			Cadherin 1.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.257T>A		.	.	.	.	.	.	.	.	.	.	T	24.7	4.562314	0.86335	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.03272	3.99;3.99	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	0.216755	0.28409	N	0.015451	T	0.09992	0.0245	L	0.28014	0.82	0.80722	D	1	D;P;D;D	0.76494	0.999;0.837;0.999;0.994	D;P;D;D	0.71870	0.975;0.742;0.958;0.939	T	0.13764	-1.0497	10	0.72032	D	0.01	.	14.8111	0.69996	0.0:0.0:0.0:1.0	.	86;86;86;86	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	E	86;86;86;86;86;86;86;27	ENSP00000381789:V86E;ENSP00000381822:V86E	ENSP00000224721:V86E	V	+	2	0	CDH23	72939956	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	7.002000	0.76304	1.973000	0.57446	0.374000	0.22700	GTG		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		7	37	0	0	0	0.001882	0	7	37				
DLG5	9231	broad.mit.edu	37	10	79571774	79571774	+	Silent	SNP	C	C	T	rs375914642		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:79571774C>T	ENST00000372391.2	-	22	4235	c.4230G>A	c.(4228-4230)gcG>gcA	p.A1410A	DLG5_ENST00000372388.2_Silent_p.A1070A|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1410	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.A1410A(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGATGAGCCGCGCCTGCTGCT	0.652																																							uc001jzk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(3)	8						c.(4228-4230)GCG>GCA		discs large homolog 5		C		1,4405	2.1+/-5.4	0,1,2202	89.0	72.0	77.0		4230	-2.6	1.0	10		77	0,8600		0,0,4300	no	coding-synonymous	DLG5	NM_004747.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1410/1920	79571774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571774C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4230G>A	10.37:g.79571774C>T						DLG5_uc001jzi.2_Silent_p.A165A|DLG5_uc001jzj.2_Silent_p.A825A|DLG5_uc009xru.1_RNA	p.A1410A	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4300	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1410			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4230G>A	CCDS7353.2																																																																																				0.652	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			12	100	0	0	0	0.00245	0	12	100				
NRG3	10718	broad.mit.edu	37	10	84745279	84745279	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:84745279T>C	ENST00000404547.1	+	10	2081	c.2081T>C	c.(2080-2082)cTg>cCg	p.L694P	NRG3_ENST00000556918.1_Missense_Mutation_p.L500P|NRG3_ENST00000372142.2_Missense_Mutation_p.L473P|NRG3_ENST00000537893.1_Missense_Mutation_p.L320P|NRG3_ENST00000372141.2_Missense_Mutation_p.L670P|NRG3_ENST00000545131.1_Missense_Mutation_p.L320P|NRG3_ENST00000404576.2_Missense_Mutation_p.L474P			P56975	NRG3_HUMAN	neuregulin 3	694					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.L473P(1)|p.L670P(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)		TTTCTCCCCCTGAGTCCCACA	0.478																																							uc001kco.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(2008-2010)CTG>CCG		neuregulin 3 isoform 1							77.0	71.0	73.0					10																	84745279		2203	4300	6503	SO:0001583	missense	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.chr10:84745279T>C	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.2081T>C	10.37:g.84745279T>C	ENSP00000384796:p.Leu694Pro					NRG3_uc010qlz.1_Missense_Mutation_p.L669P|NRG3_uc001kcp.2_Missense_Mutation_p.L473P|NRG3_uc001kcq.2_Missense_Mutation_p.L320P|NRG3_uc001kcr.2_Missense_Mutation_p.L344P	p.L670P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	2036	+			694			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.2009T>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207714	0.58343	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54675	1.21;1.12;1.13;0.56;1.13;0.64;0.64	5.54	5.54	0.83059	.	0.205033	0.32258	N	0.006359	T	0.62877	0.2464	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.76494	0.996;0.993;0.999;0.988	P;P;D;P	0.66979	0.883;0.884;0.948;0.837	T	0.66126	-0.6001	10	0.87932	D	0	-29.5395	13.6446	0.62275	0.0:0.0:0.0:1.0	.	669;694;473;670	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	P	670;694;669;473;474;500;320;320	ENSP00000361214:L670P;ENSP00000384796:L694P;ENSP00000361215:L473P;ENSP00000385804:L474P;ENSP00000451376:L500P;ENSP00000441201:L320P;ENSP00000440377:L320P	ENSP00000361214:L670P	L	+	2	0	NRG3	84735259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.812000	0.55628	2.114000	0.64651	0.533000	0.62120	CTG		0.478	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		17	106	0	0	0	0.007413	0	17	106				
PANK1	53354	broad.mit.edu	37	10	91371758	91371758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:91371758C>A	ENST00000307534.4	-	2	906	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	PANK1_ENST00000371774.2_Missense_Mutation_p.V53L|PANK1_ENST00000342512.3_Missense_Mutation_p.V26L|PANK1_ENST00000322191.6_Missense_Mutation_p.V26L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	251					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.V251L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCGAAATACACCAATTTAACC	0.458																																							uc001kgp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(751-753)GTG>TTG		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						91.0	83.0	86.0					10																	91371758		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371758C>A	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.751G>T	10.37:g.91371758C>A	ENSP00000302108:p.Val251Leu					PANK1_uc001kgn.1_Missense_Mutation_p.V26L|PANK1_uc001kgo.1_Missense_Mutation_p.V26L|PANK1_uc009xtu.1_Missense_Mutation_p.V53L	p.V251L	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			2	907	-			251					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.751G>T	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509373	0.85282	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.87971	2.92	0.80722	D	1	P;D;P;P	0.76494	0.783;0.999;0.824;0.66	B;D;P;B	0.78314	0.333;0.991;0.485;0.252	D	0.99180	1.0867	10	0.62326	D	0.03	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	53;251;26;26	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	L	26;26;53;251;114	ENSP00000345118:V26L;ENSP00000318526:V26L;ENSP00000360839:V53L;ENSP00000302108:V251L	ENSP00000302108:V251L	V	-	1	0	PANK1	91361738	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.726000	0.84824	2.906000	0.99361	0.655000	0.94253	GTG		0.458	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	104	1	0	3.45872e-05	0.004007	4.00839e-05	14	104				
CYP2C9	1559	broad.mit.edu	37	10	96748684	96748684	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:96748684C>T	ENST00000260682.6	+	9	1384	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	458					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L458L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAACTTTAACCTGAAATCTCT	0.473																																					Ovarian(54;1266 1406 16072 35076)	Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)	6						c.(1372-1374)CTG>TTG		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						154.0	147.0	149.0					10																	96748684		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96748684C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1372C>T	10.37:g.96748684C>T						CYP2C9_uc009xut.2_Silent_p.L456L	p.L458L	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	9	1397	+		Colorectal(252;0.0902)	458					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1372C>T	CCDS7437.1																																																																																				0.473	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		29	216	0	0	0	0.008361	0	29	216				
OBFC1	79991	broad.mit.edu	37	10	105659884	105659884	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:105659884C>T	ENST00000224950.3	-	5	560	c.393G>A	c.(391-393)acG>acA	p.T131T	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.T131T	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	131					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.T131T(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGACTCGGATCGTGTCCCCGA	0.458																																							uc001kxl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(391-393)ACG>ACA		oligonucleotide/oligosaccharide-binding fold							268.0	208.0	228.0					10																	105659884		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105659884C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.393G>A	10.37:g.105659884C>T						OBFC1_uc001kxm.2_Silent_p.T131T|OBFC1_uc001kxn.2_RNA	p.T131T	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	4	468	-		Colorectal(252;0.178)	131			OB.		D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.393G>A	CCDS7552.1																																																																																				0.458	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		6	153	0	0	0	0.001984	0	6	153				
SLK	9748	broad.mit.edu	37	10	105763286	105763286	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:105763286G>A	ENST00000369755.3	+	9	2894		c.e9+1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCTTTACAAGTAAGTGTACA	0.333																																					NSCLC(111;540 1651 1927 4474 17706)	NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NA																	1	Unknown(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.e9+1		serine/threonine kinase 2							71.0	73.0	72.0					10																	105763286		1927	4081	6008	SO:0001630	splice_region_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105763286G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2349+1G>A	10.37:g.105763286G>A						SLK_uc001kxp.1_Splice_Site_p.Q783_splice	p.Q783_splice	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	2383	+		Colorectal(252;0.178)						D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Splice_Site	SNP	ENST00000369755.3	37	c.2349_splice	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079502	0.76528	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9378	0.92592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLK	105753276	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.263000	0.95617	2.716000	0.92895	0.555000	0.69702	.		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	Intron	14	123	0	0	0	0.003163	0	14	123				
TDRD1	56165	broad.mit.edu	37	10	115977387	115977387	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:115977387G>A	ENST00000369280.1	+	17	2756	c.2296G>A	c.(2296-2298)Gga>Aga	p.G766R	TDRD1_ENST00000369281.2_Missense_Mutation_p.G709R|TDRD1_ENST00000369282.1_Missense_Mutation_p.G766R|TDRD1_ENST00000251864.2_Missense_Mutation_p.G766R|TDRD1_ENST00000422662.1_Missense_Mutation_p.G370R			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	766	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.G766R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGCAGAGATAGGACAACCTTG	0.348																																							uc001lbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2296-2298)GGA>AGA		tudor domain containing 1							82.0	78.0	79.0					10																	115977387		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115977387G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2296G>A	10.37:g.115977387G>A	ENSP00000358286:p.Gly766Arg					TDRD1_uc001lbf.2_Missense_Mutation_p.G700R|TDRD1_uc001lbh.1_Missense_Mutation_p.G757R|TDRD1_uc001lbi.1_Missense_Mutation_p.G757R|TDRD1_uc010qsc.1_Missense_Mutation_p.G370R|TDRD1_uc001lbj.2_Missense_Mutation_p.G475R	p.G766R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	17	2449	+		Colorectal(252;0.172)|Breast(234;0.188)	766			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2296G>A		.	.	.	.	.	.	.	.	.	.	G	24.1	4.494577	0.85069	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.20069	2.1;2.1;2.68;2.1;2.1	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.181372	0.39759	N	0.001278	T	0.60495	0.2273	H	0.94582	3.555	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	1.0;1.0;1.0;1.0;1.0	T	0.71137	-0.4680	10	0.72032	D	0.01	-16.0265	18.2425	0.89971	0.0:0.0:1.0:0.0	.	370;766;709;766;709	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	R	766;766;709;370;766	ENSP00000358288:G766R;ENSP00000251864:G766R;ENSP00000358287:G709R;ENSP00000402794:G370R;ENSP00000358286:G766R	ENSP00000251864:G766R	G	+	1	0	TDRD1	115967377	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.528000	0.81941	2.730000	0.93505	0.563000	0.77884	GGA		0.348	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			14	38	0	0	0	0.003163	0	14	38				
PNLIPRP3	119548	broad.mit.edu	37	10	118215342	118215342	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118215342G>T	ENST00000369230.3	+	5	711	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	189					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.G189W(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)		AAGAATAACTGGTAAGCATGC	0.448																																							uc001lcl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(565-567)GGG>TGG		pancreatic lipase-related protein 3 precursor							85.0	60.0	69.0					10																	118215342		2203	4300	6503	SO:0001630	splice_region_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118215342G>T	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.565+1G>T	10.37:g.118215342G>T							p.G189W	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	5	666	+			189						Missense_Mutation	SNP	ENST00000369230.3	37	c.565G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066970	0.36470	.	.	ENSG00000203837	ENST00000369230	D	0.93604	-3.25	4.8	3.89	0.44902	Lipase, N-terminal (1);	0.106801	0.39146	N	0.001453	D	0.97779	0.9271	H	0.97659	4.05	0.44619	D	0.997598	D	0.89917	1.0	D	0.97110	1.0	D	0.98519	1.0622	10	0.87932	D	0	.	13.2609	0.60104	0.0773:0.0:0.9227:0.0	.	189	Q17RR3	LIPR3_HUMAN	W	189	ENSP00000358232:G189W	ENSP00000358232:G189W	G	+	1	0	PNLIPRP3	118205332	1.000000	0.71417	0.753000	0.31225	0.441000	0.31987	7.598000	0.82745	1.234000	0.43709	-0.150000	0.13652	GGG		0.448	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	Missense_Mutation	11	44	1	0	0.000673444	0.008291	0.000742355	11	44				
PNLIP	5406	broad.mit.edu	37	10	118314780	118314780	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118314780C>A	ENST00000369221.2	+	7	690	c.662C>A	c.(661-663)aCg>aAg	p.T221K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	221					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.T221K(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GTAATTCACACGGATGGTGCC	0.483																																							uc001lcm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(661-663)ACG>AAG		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						79.0	72.0	74.0					10																	118314780		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314780C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.662C>A	10.37:g.118314780C>A	ENSP00000358223:p.Thr221Lys						p.T221K	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	705	+			221					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.662C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398268	0.83120	.	.	ENSG00000175535	ENST00000369221	D	0.96334	-3.98	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98730	1.0712	10	0.87932	D	0	.	19.424	0.94734	0.0:1.0:0.0:0.0	.	221	P16233	LIPP_HUMAN	K	221	ENSP00000358223:T221K	ENSP00000358223:T221K	T	+	2	0	PNLIP	118304770	0.997000	0.39634	0.993000	0.49108	0.563000	0.35712	3.739000	0.55075	2.890000	0.99128	0.585000	0.79938	ACG		0.483	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		11	96	1	0	1.08611e-07	0.000978	1.34768e-07	11	96				
PNLIP	5406	broad.mit.edu	37	10	118318690	118318690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118318690G>A	ENST00000369221.2	+	10	983	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	319					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.G319R(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TTGTCCAAGTGGAGGCTGCCC	0.413																																							uc001lcm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(955-957)GGA>AGA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						101.0	89.0	93.0					10																	118318690		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318690G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.955G>A	10.37:g.118318690G>A	ENSP00000358223:p.Gly319Arg						p.G319R	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	998	+			319					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.955G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826631	0.32329	.	.	ENSG00000175535	ENST00000369221	D	0.90385	-2.66	6.05	5.14	0.70334	Lipase, N-terminal (1);	.	.	.	.	D	0.88865	0.6553	L	0.59967	1.855	0.32528	N	0.535376	B	0.16802	0.019	B	0.15052	0.012	D	0.87098	0.2177	9	0.30854	T	0.27	.	16.2529	0.82497	0.0:0.1332:0.8668:0.0	.	319	P16233	LIPP_HUMAN	R	319	ENSP00000358223:G319R	ENSP00000358223:G319R	G	+	1	0	PNLIP	118308680	0.917000	0.31117	0.512000	0.27736	0.997000	0.91878	3.648000	0.54410	1.549000	0.49425	0.650000	0.86243	GGA		0.413	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		13	56	0	0	0	0.006122	0	13	56				
PNLIPRP1	5407	broad.mit.edu	37	10	118350659	118350659	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118350659A>T	ENST00000528052.1	+	2	89	c.18A>T	c.(16-18)acA>acT	p.T6T	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Silent_p.T6T|PNLIPRP1_ENST00000358834.4_Silent_p.T6T|PNLIPRP1_ENST00000442761.1_Silent_p.T6T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	6					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.T6T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCTTCTGGACAATCACACTTT	0.493																																							uc001lco.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(16-18)ACA>ACT		pancreatic lipase-related protein 1 precursor							88.0	76.0	80.0					10																	118350659		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118350659A>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.18A>T	10.37:g.118350659A>T						PNLIPRP1_uc001lcp.2_Silent_p.T6T|PNLIPRP1_uc001lcn.2_Silent_p.T6T|PNLIPRP1_uc009xys.1_RNA	p.T6T	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	2	36	+			6					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.18A>T	CCDS7595.1																																																																																				0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		8	55	0	0	0	0.006214	0	8	55				
PNLIPRP2	5408	broad.mit.edu	37	10	118383456	118383456	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118383456G>T	ENST00000298771.7	+	0	75				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.?(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCTCACCCTAGGAAAAGAGTC	0.493																																							uc001lcq.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e3-1		pancreatic lipase-related protein 2							75.0	75.0	75.0					10																	118383456		1895	4132	6027			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118383456G>T	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383456G>T						PNLIPRP2_uc009xyu.1_Splice_Site|PNLIPRP2_uc009xyv.1_Splice_Site	p.G18_splice	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	3	76	+								A8K627|Q6IB55	Splice_Site	SNP	ENST00000298771.7	37	c.53_splice																																																																																					0.493	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		15	49	1	0	2.32078e-09	0.003163	3.06421e-09	15	49				
SLC18A2	6571	broad.mit.edu	37	10	119027241	119027241	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:119027241G>C	ENST00000298472.5	+	13	1323	c.1180G>C	c.(1180-1182)Gca>Cca	p.A394P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	394					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.A394P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGTTGGTTTTGCAATTGGTAA	0.383																																							uc001ldd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GCA>CCA		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						95.0	90.0	92.0					10																	119027241		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119027241G>C	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1180G>C	10.37:g.119027241G>C	ENSP00000298472:p.Ala394Pro					SLC18A2_uc009xyy.1_Missense_Mutation_p.A191P	p.A394P	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	13	1211	+		Colorectal(252;0.19)	394			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.1180G>C	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034350	0.93575	.	.	ENSG00000165646	ENST00000298472	T	0.60672	0.17	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.82337	-0.0507	10	0.72032	D	0.01	-10.9883	19.6181	0.95643	0.0:0.0:1.0:0.0	.	394	Q05940	VMAT2_HUMAN	P	394	ENSP00000298472:A394P	ENSP00000298472:A394P	A	+	1	0	SLC18A2	119017231	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.711000	0.98735	2.639000	0.89480	0.460000	0.39030	GCA		0.383	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	44	0	0	0	0.000602	0	3	44				
INPP5F	22876	broad.mit.edu	37	10	121571426	121571426	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:121571426G>T	ENST00000361976.2	+	15	2011	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E615D(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGATGATGAGAAGTTCCATG	0.463																																							uc001leo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1843-1845)GAG>GAT		inositol polyphosphate-5-phosphatase F							119.0	129.0	125.0					10																	121571426		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121571426G>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1845G>T	10.37:g.121571426G>T	ENSP00000354519:p.Glu615Asp						p.E615D	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	15	2011	+		Lung NSC(174;0.109)|all_lung(145;0.142)	615					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1845G>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698140	0.68386	.	.	ENSG00000198825	ENST00000361976	T	0.54866	0.55	5.55	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	L	0.45137	1.4	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53690	-0.8403	10	0.49607	T	0.09	-27.7459	9.1766	0.37116	0.5827:0.0:0.4173:0.0	.	615	Q9Y2H2	SAC2_HUMAN	D	615	ENSP00000354519:E615D	ENSP00000354519:E615D	E	+	3	2	INPP5F	121561416	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	0.875000	0.28079	-0.141000	0.11374	-0.471000	0.05019	GAG		0.463	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		21	121	1	0	1.96292e-10	0.010504	2.68909e-10	21	121				
NPS	594857	broad.mit.edu	37	10	129350781	129350781	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:129350781G>C	ENST00000398023.1	+	3	168	c.148G>C	c.(148-150)Gac>Cac	p.D50H		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	50					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)		p.D50H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AACCAGATTGGACAGGAGCAA	0.428																																							uc001ljx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GAC>CAC		neuropeptide S precursor							257.0	255.0	255.0					10																	129350781		1836	4092	5928	SO:0001583	missense	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129350781G>C	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"""Endogenous ligands"""	33940	protein-coding gene	gene with protein product	"""prepro-neuropeptide S"""	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.148G>C	10.37:g.129350781G>C	ENSP00000381105:p.Asp50His						p.D50H	NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN			3	168	+			50						Missense_Mutation	SNP	ENST00000398023.1	37	c.148G>C	CCDS41577.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102129	0.37048	.	.	ENSG00000214285	ENST00000398023	T	0.51817	0.69	5.73	4.83	0.62350	.	0.536719	0.13390	U	0.391519	T	0.43299	0.1241	.	.	.	0.21445	N	0.99968	B	0.28400	0.21	B	0.23018	0.043	T	0.40979	-0.9534	9	0.72032	D	0.01	-0.4072	16.8805	0.86061	0.0:0.1282:0.8718:0.0	.	50	P0C0P6	NPS_HUMAN	H	50	ENSP00000381105:D50H	ENSP00000381105:D50H	D	+	1	0	NPS	129240771	0.828000	0.29307	0.062000	0.19696	0.054000	0.15201	2.604000	0.46274	1.425000	0.47237	0.585000	0.79938	GAC		0.428	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		15	608	0	0	0	0.007413	0	15	608				
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:373108C>A	ENST00000329962.6	+	5	527	c.527C>A	c.(526-528)gCg>gAg	p.A176E		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627																																							uc001lpb.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(526-528)GCG>GAG		beta							69.0	73.0	72.0					11																	373108		2202	4294	6496	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373108C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.527C>A	11.37:g.373108C>A	ENSP00000328277:p.Ala176Glu						p.A176E	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	536	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	176			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.527C>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750384	0.15778	.	.	ENSG00000182272	ENST00000329962	T	0.20598	2.06	3.44	2.42	0.29668	PA14 (2);	1.188700	0.06252	N	0.692201	T	0.16642	0.0400	L	0.33485	1.01	0.09310	N	1	P	0.36282	0.546	B	0.39590	0.304	T	0.28332	-1.0047	10	0.32370	T	0.25	-8.5107	3.0085	0.06037	0.4452:0.3894:0.0:0.1654	.	176	Q76KP1	B4GN4_HUMAN	E	176	ENSP00000328277:A176E	ENSP00000328277:A176E	A	+	2	0	B4GALNT4	363108	0.017000	0.18338	0.631000	0.29282	0.256000	0.26092	1.966000	0.40481	1.928000	0.55862	0.478000	0.44815	GCG		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		30	74	1	0	1.39806e-14	0.008361	2.04846e-14	30	74				
MUC2	4583	broad.mit.edu	37	11	1101128	1101128	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:1101128G>T	ENST00000441003.2	+	41	7554	c.7527G>T	c.(7525-7527)acG>acT	p.T2509T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4871					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T2509T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTCGCCACGGAGGTCAACC	0.622																																							uc001lsx.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(14611-14613)ACG>ACT		mucin 2 precursor	Pranlukast(DB01411)						86.0	97.0	93.0					11																	1101128		2118	4226	6344	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1101128G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7527G>T	11.37:g.1101128G>T							p.T4871T	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	44	14640	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4871			VWFC 1.		Q14878	Silent	SNP	ENST00000441003.2	37	c.14613G>T																																																																																					0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	62	1	0	2.68362e-12	0.001368	3.79146e-12	12	62				
OR51F1	256892	broad.mit.edu	37	11	4790262	4790262	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:4790262C>A	ENST00000380383.1	-	1	906	c.907G>T	c.(907-909)Gta>Tta	p.V303L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V296L			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V296L(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTTGTTTTTACACTGTCGATG	0.448																																							uc010qyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(886-888)GTA>TTA		olfactory receptor, family 51, subfamily F,							96.0	94.0	95.0					11																	4790262		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790262C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.907G>T	11.37:g.4790262C>A	ENSP00000369744:p.Val303Leu						p.V296L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	886	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	296						Missense_Mutation	SNP	ENST00000380383.1	37	c.886G>T		.	.	.	.	.	.	.	.	.	.	C	7.750	0.703116	0.15172	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.28895	1.59;1.59	5.43	3.56	0.40772	.	0.000000	0.50627	D	0.000118	T	0.11965	0.0291	N	0.01761	-0.735	0.23506	N	0.997535	B	0.18968	0.032	B	0.16289	0.015	T	0.18871	-1.0323	10	0.66056	D	0.02	.	8.479	0.33032	0.0:0.7609:0.0:0.2391	.	303	A6NGY5	O51F1_HUMAN	L	296;303	ENSP00000345163:V296L;ENSP00000369744:V303L	ENSP00000345163:V296L	V	-	1	0	OR51F1	4746838	0.000000	0.05858	0.790000	0.31976	0.376000	0.30014	-1.873000	0.01637	0.849000	0.35215	0.655000	0.94253	GTA		0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		34	70	1	0	4.44401e-20	0.002522	6.86144e-20	34	70				
OR51B2	79345	broad.mit.edu	37	11	5345488	5345488	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5345488C>G	ENST00000328813.2	-	1	94	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGAAAGCCAGTCAGCAAA	0.488											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc001mao.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(40-42)GGC>CGC		olfactory receptor, family 51, subfamily B,							49.0	47.0	47.0					11																	5345488		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345488C>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.40G>C	11.37:g.5345488C>G	ENSP00000327540:p.Gly14Arg		OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	625	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.G14R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	95	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	14			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.40G>C	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524210	0.44866	.	.	ENSG00000184881	ENST00000328813	T	0.00659	5.94	4.39	4.39	0.52855	.	0.000000	0.37437	U	0.002096	T	0.08802	0.0218	H	0.97707	4.06	0.33368	D	0.573224	D	0.89917	1.0	D	0.76575	0.988	T	0.26052	-1.0114	10	0.87932	D	0	.	15.879	0.79189	0.0:1.0:0.0:0.0	.	14	Q9Y5P1	O51B2_HUMAN	R	14	ENSP00000327540:G14R	ENSP00000327540:G14R	G	-	1	0	OR51B2	5302064	0.539000	0.26402	0.993000	0.49108	0.184000	0.23303	3.415000	0.52700	2.310000	0.77875	0.644000	0.83932	GGC		0.488	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		7	52	0	0	0	0.00308	0	7	52				
OR52B6	340980	broad.mit.edu	37	11	5602329	5602329	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5602329C>A	ENST00000345043.2	+	1	223	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L75L(1)|p.L75M(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGCAATCCTGCATGAGCC	0.507																																							uc010qzi.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		prostate(1)|lung(1)	ovary(1)	1						c.(223-225)CTG>ATG		olfactory receptor, family 52, subfamily B,							165.0	161.0	162.0					11																	5602329		2139	4253	6392	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602329C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.223C>A	11.37:g.5602329C>A	ENSP00000341581:p.Leu75Met					HBG2_uc001mak.1_Intron	p.L75M	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	223	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	75			Helical; Name=2; (Potential).		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.223C>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522956	0.64747	.	.	ENSG00000187747	ENST00000345043	T	0.14391	2.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33057	U	0.005340	T	0.60843	0.2300	H	0.99794	4.785	0.41576	D	0.988715	D	0.89917	1.0	D	0.87578	0.998	T	0.80395	-0.1400	10	0.87932	D	0	.	16.1576	0.81677	0.0:1.0:0.0:0.0	.	75	Q8NGF0	O52B6_HUMAN	M	75	ENSP00000341581:L75M	ENSP00000341581:L75M	L	+	1	2	OR52B6	5558905	1.000000	0.71417	0.920000	0.36463	0.452000	0.32318	5.459000	0.66685	2.673000	0.90976	0.650000	0.86243	CTG		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		50	92	1	0	9.52127e-25	0.00361	1.53768e-24	50	92				
OR56A3	390083	broad.mit.edu	37	11	5968750	5968750	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5968750T>A	ENST00000329564.6	+	1	181	c.174T>A	c.(172-174)tcT>tcA	p.S58S	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S58S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGGCCTCTCTGCACCAGC	0.617																																							uc010qzt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)TCT>TCA		olfactory receptor, family 56, subfamily A,							123.0	123.0	123.0					11																	5968750		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968750T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.174T>A	11.37:g.5968750T>A							p.S58S	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	174	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	58			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.174T>A	CCDS41614.1																																																																																				0.617	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		5	138	0	0	0	0.001168	0	5	138				
OR10A2	341276	broad.mit.edu	37	11	6891892	6891892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:6891892C>A	ENST00000307322.4	+	1	969	c.907C>A	c.(907-909)Cca>Aca	p.P303T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P303T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAACTGTATCCCATAGACCTT	0.453																																							uc001meu.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(907-909)CCA>ACA		olfactory receptor, family 10, subfamily A,							56.0	57.0	56.0					11																	6891892		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891892C>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.907C>A	11.37:g.6891892C>A	ENSP00000303862:p.Pro303Thr						p.P303T	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	907	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	303					B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.907C>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538448	0.45176	.	.	ENSG00000170790	ENST00000307322	T	0.00004	9.8	4.29	3.38	0.38709	.	1.285280	0.05484	N	0.555353	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.25987	0.065	T	0.15407	-1.0438	10	0.87932	D	0	.	8.0872	0.30780	0.0:0.889:0.0:0.111	.	303	Q9H208	O10A2_HUMAN	T	303	ENSP00000303862:P303T	ENSP00000303862:P303T	P	+	1	0	OR10A2	6848468	0.000000	0.05858	0.003000	0.11579	0.168000	0.22595	-0.014000	0.12656	1.181000	0.42912	0.650000	0.86243	CCA		0.453	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		47	103	1	0	3.54909e-21	0.002852	5.56122e-21	47	103				
NLRP14	338323	broad.mit.edu	37	11	7064041	7064041	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:7064041G>A	ENST00000299481.4	+	4	1130	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	262	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D262N(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)		TGACAGTTTCGATGAACTGAA	0.453																																							uc001mfb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(784-786)GAT>AAT		NLR family, pyrin domain containing 14							118.0	117.0	117.0					11																	7064041		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064041G>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.784G>A	11.37:g.7064041G>A	ENSP00000299481:p.Asp262Asn						p.D262N	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1107	+			262			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.784G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357257	0.82243	.	.	ENSG00000158077	ENST00000299481	D	0.88354	-2.37	4.57	4.57	0.56435	NACHT nucleoside triphosphatase (1);	0.000000	0.48767	D	0.000176	D	0.94978	0.8375	M	0.89353	3.025	0.46376	D	0.999016	D	0.89917	1.0	D	0.79108	0.992	D	0.95650	0.8706	10	0.87932	D	0	.	15.2602	0.73615	0.0:0.0:1.0:0.0	.	262	Q86W24	NAL14_HUMAN	N	262	ENSP00000299481:D262N	ENSP00000299481:D262N	D	+	1	0	NLRP14	7020617	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.947000	0.87758	2.554000	0.86153	0.655000	0.94253	GAT		0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		42	138	0	0	0	0.00874	0	42	138				
NLRP14	338323	broad.mit.edu	37	11	7079669	7079669	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:7079669T>G	ENST00000299481.4	+	8	2967	c.2621T>G	c.(2620-2622)cTg>cGg	p.L874R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	874					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.L874R(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)		CAATGTACTCTGAAGAGCCTT	0.343																																							uc001mfb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2620-2622)CTG>CGG		NLR family, pyrin domain containing 14							154.0	130.0	138.0					11																	7079669		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079669T>G	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.2621T>G	11.37:g.7079669T>G	ENSP00000299481:p.Leu874Arg						p.L874R	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2944	+			874			LRR 6.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2621T>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056161	0.36277	.	.	ENSG00000158077	ENST00000299481	T	0.75260	-0.92	4.2	4.2	0.49525	.	0.261532	0.20173	N	0.097697	T	0.71247	0.3317	N	0.08118	0	0.40001	D	0.975162	D	0.89917	1.0	D	0.91635	0.999	T	0.75895	-0.3156	10	0.87932	D	0	.	9.8478	0.41037	0.0:0.0:0.0:1.0	.	874	Q86W24	NAL14_HUMAN	R	874	ENSP00000299481:L874R	ENSP00000299481:L874R	L	+	2	0	NLRP14	7036245	0.855000	0.29742	0.705000	0.30386	0.111000	0.19643	4.984000	0.63838	1.911000	0.55334	0.528000	0.53228	CTG		0.343	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	158	0	0	0	0.004482	0	6	158				
ANO3	63982	broad.mit.edu	37	11	26538397	26538397	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:26538397C>T	ENST00000256737.3	+	6	1467	c.615C>T	c.(613-615)atC>atT	p.I205I	ANO3_ENST00000525139.1_Silent_p.I189I|ANO3_ENST00000531568.1_Silent_p.I59I|ANO3_ENST00000537978.1_Silent_p.I189I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	205					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.I205I(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						GCCCCGATATCATGTTTATTA	0.383																																							uc001mqt.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(613-615)ATC>ATT		transmembrane protein 16C							85.0	83.0	84.0					11																	26538397		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26538397C>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.615C>T	11.37:g.26538397C>T						ANO3_uc010rdr.1_Silent_p.I189I|ANO3_uc010rds.1_Silent_p.I59I|ANO3_uc010rdt.1_Silent_p.I59I	p.I205I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			6	760	+			205			Cytoplasmic (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.615C>T	CCDS31447.1																																																																																				0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		4	28	0	0	0	0.009096	0	4	28				
KCNA4	3739	broad.mit.edu	37	11	30034035	30034035	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:30034035T>C	ENST00000328224.6	-	2	1424	c.191A>G	c.(190-192)cAc>cGc	p.H64R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	64	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.H64R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TGACTGGTGGTGGTGGTGGGA	0.652																																							uc001msk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(190-192)CAC>CGC		potassium voltage-gated channel, shaker-related							35.0	37.0	37.0					11																	30034035		1925	4124	6049	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034035T>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.191A>G	11.37:g.30034035T>C	ENSP00000328511:p.His64Arg						p.H64R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1343	-			64			Poly-His.			Missense_Mutation	SNP	ENST00000328224.6	37	c.191A>G	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	9.158	1.018049	0.19355	.	.	ENSG00000182255	ENST00000328224	D	0.96459	-4.02	4.84	3.71	0.42584	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	1.068200	0.07385	N	0.888174	D	0.89767	0.6810	N	0.08118	0	0.31507	N	0.66403	B	0.14438	0.01	B	0.17433	0.018	D	0.83365	0.0004	10	0.20519	T	0.43	.	6.5703	0.22535	0.0:0.078:0.1574:0.7646	.	64	P22459	KCNA4_HUMAN	R	64	ENSP00000328511:H64R	ENSP00000328511:H64R	H	-	2	0	KCNA4	29990611	1.000000	0.71417	0.980000	0.43619	0.496000	0.33645	5.809000	0.69172	0.710000	0.31997	-0.365000	0.07479	CAC		0.652	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		6	25	0	0	0	0.001855	0	6	25				
QSER1	79832	broad.mit.edu	37	11	32953814	32953814	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:32953814C>T	ENST00000399302.2	+	4	958	c.623C>T	c.(622-624)tCa>tTa	p.S208L	QSER1_ENST00000527788.1_Missense_Mutation_p.S208L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	208	Ser-rich.							p.S208L(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTGACTGGTTCACAGCACTCC	0.418																																							uc001mty.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(622-624)TCA>TTA		glutamine and serine rich 1							71.0	65.0	67.0					11																	32953814		1887	4109	5996	SO:0001583	missense	79832							g.chr11:32953814C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.623C>T	11.37:g.32953814C>T	ENSP00000382241:p.Ser208Leu					QSER1_uc001mtz.1_Missense_Mutation_p.S208L|QSER1_uc001mua.2_5'Flank	p.S208L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	890	+	Breast(20;0.158)		208			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.623C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443488	0.63067	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26067	2.09;1.76	4.98	4.98	0.66077	.	0.374668	0.22730	N	0.056327	T	0.27731	0.0682	L	0.32530	0.975	0.26164	N	0.979964	P;P	0.46142	0.873;0.799	P;B	0.44990	0.466;0.154	T	0.08391	-1.0724	10	0.44086	T	0.13	.	18.6038	0.91259	0.0:1.0:0.0:0.0	.	208;208	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	L	208	ENSP00000382241:S208L;ENSP00000432766:S208L	ENSP00000078652:S208L	S	+	2	0	QSER1	32910390	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.684000	0.68197	2.468000	0.83385	0.655000	0.94253	TCA		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		5	120	0	0	0	0.000602	0	5	120				
RAG1	5896	broad.mit.edu	37	11	36596535	36596535	+	Missense_Mutation	SNP	C	C	T	rs104894285		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:36596535C>T	ENST00000299440.5	+	2	1793	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	561			R -> C (in OS; dbSNP:rs104894285). {ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894284). {ECO:0000269|PubMed:9630231}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R561C(1)|p.R561S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAGAGGTTCCGCTATGATTC	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM981695	RAG1	M	rs104894285	c.(1681-1683)CGC>TGC		recombination activating gene 1		C	CYS/ARG	0,4404		0,0,2202	109.0	92.0	98.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1681	5.6	1.0	11	dbSNP_132	98	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	561/1044	36596535	1,12999	2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596535C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1681C>T	11.37:g.36596535C>T	ENSP00000299440:p.Arg561Cys					RAG1_uc001mwt.2_RNA	p.R561C	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1805	+	all_lung(20;0.226)	all_hematologic(20;0.107)	561		R -> C (in OS).|R -> H (in OS).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1681C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401807	0.62288	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88046	-2.33;-2.33	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	H	0.96301	3.8	0.80722	A	1	D	0.76494	0.999	P	0.60173	0.87	D	0.96502	0.9372	9	0.87932	D	0	.	14.4484	0.67367	0.1472:0.8528:0.0:0.0	.	561	P15918	RAG1_HUMAN	C	561	ENSP00000434610:R561C;ENSP00000299440:R561C	ENSP00000299440:R561C	R	+	1	0	RAG1	36553111	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.433000	0.59929	2.644000	0.89710	0.644000	0.83932	CGC		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	81	0	0	0	0.000602	0	4	81				
RAG1	5896	broad.mit.edu	37	11	36596940	36596940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:36596940G>T	ENST00000299440.5	+	2	2198	c.2086G>T	c.(2086-2088)Ggc>Tgc	p.G696C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	696					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G696C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAGCTGGGAGGCATTCTCCG	0.532									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2086-2088)GGC>TGC		recombination activating gene 1							57.0	55.0	56.0					11																	36596940		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596940G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2086G>T	11.37:g.36596940G>T	ENSP00000299440:p.Gly696Cys					RAG1_uc001mwt.2_RNA	p.G696C	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2210	+	all_lung(20;0.226)	all_hematologic(20;0.107)	696					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2086G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471535	0.63737	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88277	-2.36;-2.36	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	D	0.96788	0.9580	10	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	696	P15918	RAG1_HUMAN	C	696	ENSP00000434610:G696C;ENSP00000299440:G696C	ENSP00000299440:G696C	G	+	1	0	RAG1	36553516	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	GGC		0.532	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		28	62	1	0	1.68575e-08	0.007291	2.16544e-08	28	62				
TTC17	55761	broad.mit.edu	37	11	43427092	43427092	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:43427092G>T	ENST00000039989.4	+	12	1522	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R503I	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	503					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R503I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGCCTAAAAGAGCAGATTGT	0.368																																							uc001mxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1507-1509)AGA>ATA		tetratricopeptide repeat domain 17							152.0	164.0	160.0					11																	43427092		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43427092G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1508G>T	11.37:g.43427092G>T	ENSP00000039989:p.Arg503Ile					TTC17_uc001mxh.2_Missense_Mutation_p.R503I|TTC17_uc010rfj.1_Missense_Mutation_p.R446I|TTC17_uc001mxj.2_Missense_Mutation_p.R273I	p.R503I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			12	1522	+			503					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1508G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205611	0.79127	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.34072	1.38;1.43	5.64	5.64	0.86602	.	0.040549	0.85682	D	0.000000	T	0.54431	0.1858	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.998;0.966;0.999	D;P;D	0.72982	0.927;0.641;0.979	T	0.52396	-0.8581	10	0.51188	T	0.08	-16.9125	12.9594	0.58449	0.0737:0.0:0.9263:0.0	.	503;503;503	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	I	503	ENSP00000299240:R503I;ENSP00000039989:R503I	ENSP00000039989:R503I	R	+	2	0	TTC17	43383668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.281000	0.72632	2.664000	0.90586	0.655000	0.94253	AGA		0.368	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		155	192	1	0	2.07621e-90	0.00361	3.47133e-90	155	192				
ACCSL	390110	broad.mit.edu	37	11	44074297	44074297	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:44074297C>A	ENST00000378832.1	+	6	914	c.858C>A	c.(856-858)caC>caA	p.H286Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	286					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.H286Q(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCCTGTCCACCTGGAGAGTG	0.542																																							uc001mxw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(856-858)CAC>CAA		1-aminocyclopropane-1-carboxylate synthase							205.0	200.0	202.0					11																	44074297		1953	4138	6091	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074297C>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.858C>A	11.37:g.44074297C>A	ENSP00000368109:p.His286Gln					ACCSL_uc009ykr.2_Missense_Mutation_p.H105Q	p.H286Q	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			6	914	+			286						Missense_Mutation	SNP	ENST00000378832.1	37	c.858C>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263293	0.39995	.	.	ENSG00000205126	ENST00000378832	T	0.21361	2.01	5.39	5.39	0.77823	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.548075	0.21552	N	0.072702	T	0.39911	0.1096	L	0.53249	1.67	0.29256	N	0.871632	D	0.60160	0.987	P	0.62560	0.904	T	0.11817	-1.0572	10	0.45353	T	0.12	-5.3757	16.6957	0.85335	0.0:1.0:0.0:0.0	.	286	Q4AC99	1A1L2_HUMAN	Q	286	ENSP00000368109:H286Q	ENSP00000368109:H286Q	H	+	3	2	ACCSL	44030873	0.806000	0.28996	0.997000	0.53966	0.129000	0.20672	0.433000	0.21477	2.806000	0.96561	0.655000	0.94253	CAC		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		251	253	1	0	8.08517e-138	0.00361	1.3542e-137	251	253				
MADD	8567	broad.mit.edu	37	11	47307001	47307001	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:47307001G>T	ENST00000311027.5	+	14	2576		c.e14-1		MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.?(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGCATTCAAGGGCTCAAAAG	0.547																																							uc001ner.1		NA																	1	Unknown(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.e14-1		MAP-kinase activating death domain-containing							134.0	126.0	128.0					11																	47307001		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47307001G>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2412-1G>T	11.37:g.47307001G>T						MADD_uc001neq.2_Splice_Site_p.R804_splice|MADD_uc001nev.1_Splice_Site_p.G761_splice|MADD_uc001nes.1_Splice_Site_p.G761_splice|MADD_uc001net.1_Splice_Site_p.R804_splice|MADD_uc009yln.1_Splice_Site_p.G761_splice|MADD_uc001neu.1_Splice_Site_p.G761_splice|MADD_uc001nex.2_Splice_Site_p.R804_splice|MADD_uc001nez.2_Splice_Site_p.G761_splice|MADD_uc001new.2_Splice_Site_p.R804_splice	p.R804_splice	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	14	2603	+									Splice_Site	SNP	ENST00000311027.5	37	c.2412_splice	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242356	0.79912	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47263577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.132000	0.89603	2.941000	0.99782	0.655000	0.94253	.		0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	34	249	1	0	1.36161e-19	0.004289	2.09208e-19	34	249				
OR4C3	256144	broad.mit.edu	37	11	48346719	48346719	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:48346719C>G	ENST00000319856.4	+	1	248	c.227C>G	c.(226-228)tCc>tGc	p.S76C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S76C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACTATCACCTCCAGCCCCACG	0.458																																							uc010rhv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(226-228)TCC>TGC		olfactory receptor, family 4, subfamily C,							155.0	130.0	139.0					11																	48346719		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346719C>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.227C>G	11.37:g.48346719C>G	ENSP00000321419:p.Ser76Cys						p.S76C	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	227	+			49			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.227C>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	8.348	0.830270	0.16749	.	.	ENSG00000176547	ENST00000319856	T	0.03152	4.03	5.88	-1.83	0.07833	GPCR, rhodopsin-like superfamily (1);	1.669900	0.03334	N	0.193867	T	0.03871	0.0109	L	0.46885	1.475	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45071	-0.9286	10	0.27082	T	0.32	.	2.0416	0.03551	0.1114:0.3289:0.291:0.2687	.	49	Q8NH37	OR4C3_HUMAN	C	76	ENSP00000321419:S76C	ENSP00000321419:S76C	S	+	2	0	OR4C3	48303295	0.000000	0.05858	0.006000	0.13384	0.838000	0.47535	-3.024000	0.00641	0.062000	0.16340	0.549000	0.68633	TCC		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		6	250	0	0	0	0.001984	0	6	250				
OR4A16	81327	broad.mit.edu	37	11	55111106	55111106	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55111106G>T	ENST00000314721.2	+	1	480	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V144L(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						CCTTCTGTTGGTGGTGGCCAT	0.463																																							uc010rie.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(430-432)GTG>TTG		olfactory receptor, family 4, subfamily A,							183.0	165.0	171.0					11																	55111106		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111106G>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.430G>T	11.37:g.55111106G>T	ENSP00000325128:p.Val144Leu						p.V144L	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	430	+			144			Helical; Name=4; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.430G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.170163	0.00315	.	.	ENSG00000181961	ENST00000314721	T	0.35421	1.31	2.69	-2.06	0.07298	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17704	0.0425	N	0.25201	0.72	0.09310	N	1	B	0.11235	0.004	B	0.23150	0.044	T	0.30179	-0.9987	9	0.17369	T	0.5	.	1.4327	0.02337	0.334:0.153:0.3728:0.1402	.	144	Q8NH70	O4A16_HUMAN	L	144	ENSP00000325128:V144L	ENSP00000325128:V144L	V	+	1	0	OR4A16	54867682	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.146000	0.03191	-0.689000	0.05149	-1.481000	0.00988	GTG		0.463	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		39	163	1	0	7.63091e-17	0.007835	1.14464e-16	39	163				
OR5D14	219436	broad.mit.edu	37	11	55563765	55563765	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55563765C>T	ENST00000335605.1	+	1	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S245F(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)				ACCTGGGCCTCCCACCTGACT	0.463																																							uc010rim.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(733-735)TCC>TTC		olfactory receptor, family 5, subfamily D,							114.0	105.0	108.0					11																	55563765		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563765C>T	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.734C>T	11.37:g.55563765C>T	ENSP00000334456:p.Ser245Phe						p.S245F	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	734	+		all_epithelial(135;0.196)	245			Helical; Name=6; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.734C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	17.85	3.490069	0.64074	.	.	ENSG00000186113	ENST00000335605	T	0.39056	1.1	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000608	T	0.75339	0.3836	H	0.95151	3.63	0.46542	D	0.999093	D	0.89917	1.0	D	0.97110	1.0	D	0.83892	0.0285	10	0.87932	D	0	-29.9324	17.0729	0.86579	0.0:1.0:0.0:0.0	.	245	Q8NGL3	OR5DE_HUMAN	F	245	ENSP00000334456:S245F	ENSP00000334456:S245F	S	+	2	0	OR5D14	55320341	0.922000	0.31269	1.000000	0.80357	0.324000	0.28378	7.064000	0.76721	2.363000	0.80096	0.643000	0.83706	TCC		0.463	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		19	126	0	0	0	0.00278	0	19	126				
OR5L1	219437	broad.mit.edu	37	11	55579236	55579237	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55579236_55579237GG>AA	ENST00000333973.2	+	1	383_384	c.294_295GG>AA	c.(292-297)atGGtg>atAAtg	p.98_99MV>IM		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCTA	0.45																																							uc001nhw.1		NA																	1	Complex - compound substitution(1)		lung(1)	skin(3)|ovary(2)	5						c.(292-297)ATGGTG>ATAATG		olfactory receptor, family 5, subfamily L,																																				SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579236_55579237GG>AA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	Exception_encountered	11.37:g.55579236_55579237delinsAA	ENSP00000335529:p.M98_V99delinsIM						p.98_99MV>IM	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	294_295	+		all_epithelial(135;0.208)	98_99			Extracellular (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	DNP	ENST00000333973.2	37	c.294_295GG>AA	CCDS31509.1																																																																																				0.450	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		9	322	0	0	0	0.004672	0	9	322				
OR5D18	219438	broad.mit.edu	37	11	55587852	55587852	+	Silent	SNP	C	C	T	rs148575844		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55587852C>T	ENST00000333976.4	+	1	767	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGACTGCCATCACCATCTTCC	0.517																																							uc010rin.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(745-747)ATC>ATT		olfactory receptor, family 5, subfamily D,							121.0	106.0	111.0					11																	55587852		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587852C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.747C>T	11.37:g.55587852C>T							p.I249I	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	747	+		all_epithelial(135;0.208)	249			Helical; Name=6; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.747C>T	CCDS31510.1																																																																																				0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		24	88	0	0	0	0.002299	0	24	88				
TRIM51	84767	broad.mit.edu	37	11	55653024	55653024	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55653024C>G	ENST00000449290.2	+	2	212	c.120C>G	c.(118-120)taC>taG	p.Y40*	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	40						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y40*(1)									CCTGTTTGTACCTCAACTGGC	0.507																																							uc010rip.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(118-120)TAC>TAG		SPRY domain containing 5							36.0	31.0	32.0					11																	55653024		692	1591	2283	SO:0001587	stop_gained	84767					intracellular	zinc ion binding	g.chr11:55653024C>G	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.120C>G	11.37:g.55653024C>G	ENSP00000395086:p.Tyr40*					SPRYD5_uc010riq.1_5'Flank	p.Y40*	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	212	+		all_epithelial(135;0.226)	40			RING-type.		A6NMG2	Nonsense_Mutation	SNP	ENST00000449290.2	37	c.120C>G		.	.	.	.	.	.	.	.	.	.	.	10.62	1.401413	0.25291	.	.	ENSG00000124900	ENST00000449290	.	.	.	0.803	-0.643	0.11482	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0297	0.14404	0.0:0.7331:0.0:0.2669	.	.	.	.	X	40	.	ENSP00000395086:Y40X	Y	+	3	2	SPRYD5	55409600	0.001000	0.12720	0.001000	0.08648	0.037000	0.13140	0.115000	0.15540	-0.134000	0.11516	0.152000	0.16155	TAC		0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	71	0	0	0	0.000602	0	5	71				
TRIM51	84767	broad.mit.edu	37	11	55657475	55657475	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55657475G>T	ENST00000449290.2	+	6	911	c.819G>T	c.(817-819)ggG>ggT	p.G273G	TRIM51_ENST00000244891.3_Silent_p.G130G	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G273G(1)|p.G114G(1)									TCAGTGCAGGGCCCATCACTG	0.498																																							uc010rip.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(817-819)GGG>GGT		SPRY domain containing 5							51.0	46.0	48.0					11																	55657475		2201	4294	6495	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55657475G>T	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.819G>T	11.37:g.55657475G>T						SPRYD5_uc010riq.1_Silent_p.G130G	p.G273G	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	911	+		all_epithelial(135;0.226)	273			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.819G>T																																																																																					0.498	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	45	1	0	3.59834e-05	0.001168	4.13983e-05	5	45				
OR8H3	390152	broad.mit.edu	37	11	55890117	55890117	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55890117A>G	ENST00000313472.3	+	1	269	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N90S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGACTTCCAACTATATTTCC	0.423																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(268-270)AAC>AGC		olfactory receptor, family 8, subfamily H,							329.0	322.0	325.0					11																	55890117		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890117A>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.269A>G	11.37:g.55890117A>G	ENSP00000323928:p.Asn90Ser						p.N90S	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	269	+	Esophageal squamous(21;0.00693)		90			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.269A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	5.402	0.259345	0.10239	.	.	ENSG00000181761	ENST00000313472	T	0.36520	1.25	3.44	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	0.824120	0.10779	N	0.635096	T	0.25606	0.0623	L	0.45470	1.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38457	-0.9660	10	0.66056	D	0.02	.	9.0144	0.36161	0.5982:0.146:0.2558:0.0	.	90	Q8N146	OR8H3_HUMAN	S	90	ENSP00000323928:N90S	ENSP00000323928:N90S	N	+	2	0	OR8H3	55646693	0.000000	0.05858	0.009000	0.14445	0.254000	0.26022	0.271000	0.18626	-0.757000	0.04697	0.145000	0.16022	AAC		0.423	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		21	693	0	0	0	0.00278	0	21	693				
OR5AR1	219493	broad.mit.edu	37	11	56431427	56431427	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:56431427A>T	ENST00000302969.2	+	1	290	c.266A>T	c.(265-267)cAc>cTc	p.H89L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H89L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTAACAAATCACAAAGTTATC	0.498																																							uc010rjm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CAC>CTC		olfactory receptor, family 5, subfamily AR,							196.0	198.0	197.0					11																	56431427		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431427A>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.266A>T	11.37:g.56431427A>T	ENSP00000302639:p.His89Leu						p.H89L	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	266	+			89			Extracellular (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.266A>T	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	5.592	0.294092	0.10567	.	.	ENSG00000172459	ENST00000302969	T	0.12465	2.68	5.04	-0.0413	0.13868	GPCR, rhodopsin-like superfamily (1);	0.442134	0.19240	N	0.119191	T	0.07369	0.0186	N	0.26130	0.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.59425	D	0.04	.	2.064	0.03598	0.4095:0.1307:0.3327:0.1271	.	89	Q8NGP9	O5AR1_HUMAN	L	89	ENSP00000302639:H89L	ENSP00000302639:H89L	H	+	2	0	OR5AR1	56188003	0.000000	0.05858	0.083000	0.20561	0.290000	0.27261	-1.010000	0.03656	-0.153000	0.11137	0.467000	0.42956	CAC		0.498	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		10	388	0	0	0	0.006214	0	10	388				
OR10Q1	219960	broad.mit.edu	37	11	57996204	57996204	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:57996204G>T	ENST00000316770.2	-	1	186	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A48A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCCAGATGATGGCTGTGTTGC	0.527																																							uc010rkd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(142-144)GCC>GCA		olfactory receptor, family 10, subfamily Q,							118.0	122.0	120.0					11																	57996204		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996204G>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.144C>A	11.37:g.57996204G>T							p.A48A	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	144	-		Breast(21;0.0589)	48			Helical; Name=1; (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.144C>A	CCDS31547.1																																																																																				0.527	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		18	114	1	0	2.4624e-09	0.008871	3.24216e-09	18	114				
MS4A6A	64231	broad.mit.edu	37	11	59945759	59945759	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:59945759T>A	ENST00000530839.1	-	5	805	c.313A>T	c.(313-315)Aca>Tca	p.T105S	MS4A6A_ENST00000529054.1_Missense_Mutation_p.T133S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T105S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.T105S|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T60S|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000420732.2_Missense_Mutation_p.T105S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T133S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	105						integral component of membrane (GO:0016021)		p.T133S(1)|p.T105S(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTCTCTGTGGCGATTGAT	0.393																																							uc001nor.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(313-315)ACA>TCA		membrane-spanning 4-domains, subfamily A, member							135.0	128.0	130.0					11																	59945759		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59945759T>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.313A>T	11.37:g.59945759T>A	ENSP00000436979:p.Thr105Ser					MS4A6A_uc001noq.2_Missense_Mutation_p.T105S|MS4A6A_uc001nos.3_Missense_Mutation_p.T133S|MS4A6A_uc009ymv.2_Missense_Mutation_p.T105S|MS4A6A_uc001not.2_Missense_Mutation_p.T105S|MS4A6A_uc010rla.1_Missense_Mutation_p.T133S|MS4A6A_uc010rlb.1_Missense_Mutation_p.T60S	p.T105S	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			4	551	-			105			Helical; (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.313A>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	T	6.855	0.526989	0.13066	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309	T;T;T;T;T;T;T	0.80738	4.49;4.49;-1.41;4.49;4.49;4.49;4.49	4.73	2.25	0.28309	.	0.778199	0.11466	N	0.561245	T	0.72439	0.3460	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P	0.52316	0.952;0.551;0.757;0.757;0.551	P;B;P;P;B	0.55161	0.77;0.283;0.56;0.56;0.283	T	0.59815	-0.7383	10	0.19590	T	0.45	.	3.6448	0.08180	0.1913:0.103:0.0:0.7057	.	60;133;133;105;105	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	105;105;105;105;133;60;133	ENSP00000315878:T105S;ENSP00000431901:T105S;ENSP00000392921:T105S;ENSP00000436979:T105S;ENSP00000435844:T133S;ENSP00000392770:T60S;ENSP00000403212:T133S	ENSP00000315878:T105S	T	-	1	0	MS4A6A	59702335	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	0.048000	0.14078	0.939000	0.37446	0.533000	0.62120	ACA		0.393	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			9	81	0	0	0	0.006214	0	9	81				
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:60703933C>G	ENST00000453848.2	+	11	2784	c.2626C>G	c.(2626-2628)Cag>Gag	p.Q876E	TMEM132A_ENST00000005286.4_Missense_Mutation_p.Q877E			Q24JP5	T132A_HUMAN	transmembrane protein 132A	876	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q877E(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGCGCTATCAGCGCAAAGA	0.607																																							uc001nqj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2626-2628)CAG>GAG		transmembrane protein 132A isoform b							172.0	163.0	166.0					11																	60703933		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703933C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2626C>G	11.37:g.60703933C>G	ENSP00000405823:p.Gln876Glu					TMEM132A_uc001nqi.2_Missense_Mutation_p.Q877E|TMEM132A_uc001nqm.2_Missense_Mutation_p.Q86E	p.Q876E	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			11	2819	+			876			Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2626C>G	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559014	0.65538	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05717	3.4;3.4	5.04	5.04	0.67666	.	0.119965	0.36815	N	0.002382	T	0.11452	0.0279	L	0.44542	1.39	0.35135	D	0.768366	P;P	0.50943	0.94;0.94	P;P	0.48189	0.57;0.57	T	0.04551	-1.0943	10	0.87932	D	0	-31.69	16.5569	0.84487	0.0:1.0:0.0:0.0	.	876;877	Q24JP5;Q24JP5-2	T132A_HUMAN;.	E	627;876;877	ENSP00000405823:Q876E;ENSP00000005286:Q877E	ENSP00000005286:Q877E	Q	+	1	0	TMEM132A	60460509	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.568000	0.53820	2.516000	0.84829	0.655000	0.94253	CAG		0.607	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	194	0	0	0	0.001984	0	7	194				
C11orf84	144097	broad.mit.edu	37	11	63586320	63586320	+	Silent	SNP	C	C	A	rs537681016		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:63586320C>A	ENST00000294244.4	+	5	1079	c.780C>A	c.(778-780)gcC>gcA	p.A260A		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	260								p.A260A(1)		endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGCACCAGCCGAGGTCCGAC	0.632																																							uc001nxt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)GCC>GCA		hypothetical protein LOC144097							76.0	75.0	75.0					11																	63586320		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63586320C>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.780C>A	11.37:g.63586320C>A							p.A260A	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			5	1016	+			260					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.780C>A	CCDS31594.1																																																																																				0.632	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		35	54	1	0	1.15183e-24	0.009718	1.85704e-24	35	54				
SLC22A11	55867	broad.mit.edu	37	11	64323733	64323733	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:64323733T>A	ENST00000301891.4	+	1	636	c.262T>A	c.(262-264)Ttc>Atc	p.F88I	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F88I|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F88I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	88					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F88I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GTGCCGCCGCTTCCGCCAGCC	0.657											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc001oai.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(262-264)TTC>ATC		solute carrier family 22 member 11	Probenecid(DB01032)						50.0	59.0	56.0					11																	64323733		2141	4197	6338	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323733T>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.262T>A	11.37:g.64323733T>A	ENSP00000301891:p.Phe88Ile		OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_uc001oah.1_Missense_Mutation_p.F88I|SLC22A11_uc001oaj.2_Missense_Mutation_p.F88I|SLC22A11_uc009ypq.2_Missense_Mutation_p.F88I	p.F88I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			1	636	+			88			Extracellular (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.262T>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797725	0.50208	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.13778	2.56;2.56;2.56	3.97	2.84	0.33178	.	0.078972	0.52532	U	0.000061	T	0.43144	0.1234	H	0.94964	3.605	0.27049	N	0.963835	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.999	T	0.39292	-0.9621	10	0.87932	D	0	.	6.9528	0.24554	0.0:0.1175:0.0:0.8825	.	88;88;88;88	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	I	88	ENSP00000301891:F88I;ENSP00000366809:F88I;ENSP00000366804:F88I	ENSP00000301891:F88I	F	+	1	0	SLC22A11	64080309	1.000000	0.71417	0.363000	0.25875	0.009000	0.06853	2.361000	0.44160	0.698000	0.31739	0.443000	0.29094	TTC		0.657	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		9	47	0	0	0	0.001368	0	9	47				
GAL3ST3	89792	broad.mit.edu	37	11	65810715	65810715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:65810715G>T	ENST00000312006.4	-	3	840	c.559C>A	c.(559-561)Ccc>Acc	p.P187T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P187T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	187					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.P187T(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						TATGCCTCGGGCGCGCGCAGG	0.677																																							uc001ogv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)CCC>ACC		galactose-3-O-sulfotransferase 3							33.0	36.0	35.0					11																	65810715		2201	4293	6494	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810715G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.559C>A	11.37:g.65810715G>T	ENSP00000308591:p.Pro187Thr					GAL3ST3_uc001ogw.2_Missense_Mutation_p.P187T	p.P187T	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			2	719	-			187			Lumenal (Potential).		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.559C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593858	0.66219	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.31247	1.5;1.5	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.71920	2.185	0.52501	D	0.999951	D	0.69078	0.997	D	0.65773	0.938	T	0.48445	-0.9035	10	0.52906	T	0.07	-32.0922	9.1176	0.36766	0.1003:0.0:0.8997:0.0	.	187	Q96A11	G3ST3_HUMAN	T	187	ENSP00000308591:P187T;ENSP00000434829:P187T	ENSP00000308591:P187T	P	-	1	0	GAL3ST3	65567291	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.794000	0.85869	2.304000	0.77564	0.561000	0.74099	CCC		0.677	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		26	40	1	0	1.17739e-12	0.005443	1.67845e-12	26	40				
BRMS1	25855	broad.mit.edu	37	11	66109713	66109713	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:66109713C>T	ENST00000359957.3	-	2	154		c.e2-1		BRMS1_ENST00000425825.2_Splice_Site|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CATCTGGACTCTGGGAGAAGG	0.542																																					GBM(7;55 307 2662 20856 28942)	GBM(7;55 307 2662 20856 28942)	uc001ohp.1		NA																	0					0						c.e2-1		breast cancer metastasis suppressor 1 isoform 1							124.0	113.0	117.0					11																	66109713		2200	4295	6495	SO:0001630	splice_region_variant	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66109713C>T	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.7-1G>A	11.37:g.66109713C>T						BRMS1_uc001oho.1_Splice_Site|BRMS1_uc009yre.2_5'Flank		NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN			2	141	-								Q6IAI2	Splice_Site	SNP	ENST00000359957.3	37	c.-6_splice	CCDS8135.1																																																																																				0.542	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399	Intron	19	142	0	0	0	0.008871	0	19	142				
RHOD	29984	broad.mit.edu	37	11	66837915	66837915	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:66837915A>G	ENST00000308831.2	+	4	435	c.350A>G	c.(349-351)cAt>cGt	p.H117R	RHOD_ENST00000533360.1_3'UTR|RHOD_ENST00000532559.1_Missense_Mutation_p.H51R	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	117					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.H117R(1)		lung(3)	3						GAAGTGAATCATTTCTGCAAG	0.567																																							uc001ojv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CAT>CGT		ras homolog D precursor							89.0	70.0	76.0					11																	66837915		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66837915A>G	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.350A>G	11.37:g.66837915A>G	ENSP00000308576:p.His117Arg						p.H117R	NM_014578	NP_055393	O00212	RHOD_HUMAN			4	435	+			117						Missense_Mutation	SNP	ENST00000308831.2	37	c.350A>G	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708884	0.68615	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.75154	-0.91;-0.91	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	0.000000	0.50627	D	0.000117	T	0.77356	0.4118	L	0.31752	0.955	0.38930	D	0.957916	D	0.67145	0.996	D	0.76071	0.987	T	0.80643	-0.1291	10	0.87932	D	0	-10.7219	10.5875	0.45290	1.0:0.0:0.0:0.0	.	117	O00212	RHOD_HUMAN	R	117;51	ENSP00000308576:H117R;ENSP00000432003:H51R	ENSP00000308576:H117R	H	+	2	0	RHOD	66594491	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.504000	0.73704	2.001000	0.58596	0.533000	0.62120	CAT		0.567	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		32	56	0	0	0	0.003271	0	32	56				
GPR152	390212	broad.mit.edu	37	11	67219375	67219375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67219375C>A	ENST00000312457.2	-	1	825	c.821G>T	c.(820-822)tGg>tTg	p.W274L	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W274L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CAGGGCCTCCCAGAGCAGGTA	0.627																																					Pancreas(102;800 1581 2723 7382 33622)	Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(820-822)TGG>TTG		G protein-coupled receptor 152							78.0	68.0	71.0					11																	67219375		2200	4295	6495	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219375C>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.821G>T	11.37:g.67219375C>A	ENSP00000310255:p.Trp274Leu					uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	p.W274L	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	826	-			274			Helical; Name=6; (Potential).		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.821G>T	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	3.001	-0.205925	0.06180	.	.	ENSG00000175514	ENST00000312457	T	0.70986	-0.53	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001388	T	0.52725	0.1752	N	0.19112	0.55	0.24148	N	0.99571	P	0.34934	0.476	B	0.40165	0.321	T	0.45833	-0.9234	10	0.07325	T	0.83	.	8.6511	0.34035	0.0:0.8981:0.0:0.1019	.	274	Q8TDT2	GP152_HUMAN	L	274	ENSP00000310255:W274L	ENSP00000310255:W274L	W	-	2	0	GPR152	66975951	0.005000	0.15991	1.000000	0.80357	0.034000	0.12701	2.055000	0.41345	2.403000	0.81681	0.561000	0.74099	TGG		0.627	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			31	90	1	0	6.04164e-23	0.002096	9.64222e-23	31	90				
SUV420H1	51111	broad.mit.edu	37	11	67925826	67925826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67925826C>A	ENST00000304363.4	-	11	2340	c.1987G>T	c.(1987-1989)Gtg>Ttg	p.V663L		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	663					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.V663L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTGTAGCTCACAGGCACGCCC	0.493																																							uc001onm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1987-1989)GTG>TTG		suppressor of variegation 4-20 homolog 1 isoform							83.0	74.0	77.0					11																	67925826		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925826C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1987G>T	11.37:g.67925826C>A	ENSP00000305899:p.Val663Leu					SUV420H1_uc009yse.1_Missense_Mutation_p.V249L|SUV420H1_uc001onn.1_Missense_Mutation_p.V491L|SUV420H1_uc009ysf.2_Missense_Mutation_p.V423L	p.V663L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2243	-			663					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1987G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017559	0.35606	.	.	ENSG00000110066	ENST00000304363	T	0.42131	0.98	4.89	4.89	0.63831	.	0.651001	0.16376	N	0.217101	T	0.27663	0.0680	N	0.19112	0.55	0.32267	N	0.5694	B	0.10296	0.003	B	0.10450	0.005	T	0.19745	-1.0296	10	0.25106	T	0.35	-1.5842	10.9281	0.47201	0.0:0.9142:0.0:0.0858	.	663	Q4FZB7	SV421_HUMAN	L	663	ENSP00000305899:V663L	ENSP00000305899:V663L	V	-	1	0	SUV420H1	67682402	0.458000	0.25760	0.005000	0.12908	0.523000	0.34469	1.178000	0.31981	2.531000	0.85337	0.491000	0.48974	GTG		0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		7	100	1	0	0.00307968	0.00308	0.00329147	7	100				
SUV420H1	51111	broad.mit.edu	37	11	67926156	67926156	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67926156C>T	ENST00000304363.4	-	11	2010	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	553					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.D553N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGCTTGATGTCAGAGGCCTCC	0.537																																							uc001onm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1657-1659)GAC>AAC		suppressor of variegation 4-20 homolog 1 isoform							151.0	148.0	149.0					11																	67926156		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926156C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1657G>A	11.37:g.67926156C>T	ENSP00000305899:p.Asp553Asn					SUV420H1_uc009yse.1_Missense_Mutation_p.D139N|SUV420H1_uc001onn.1_Missense_Mutation_p.D381N|SUV420H1_uc009ysf.2_Missense_Mutation_p.D313N	p.D553N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1913	-			553					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1657G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474680	0.84640	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	5.07	4.15	0.48705	.	0.404905	0.30547	N	0.009398	T	0.34658	0.0905	N	0.24115	0.695	0.80722	D	1	P	0.34562	0.457	B	0.36534	0.227	T	0.10636	-1.0621	10	0.24483	T	0.36	-12.9927	13.346	0.60573	0.0:0.9244:0.0:0.0756	.	553	Q4FZB7	SV421_HUMAN	N	553	ENSP00000305899:D553N	ENSP00000305899:D553N	D	-	1	0	SUV420H1	67682732	1.000000	0.71417	0.018000	0.16275	0.705000	0.40729	4.446000	0.60014	1.362000	0.46000	0.491000	0.48974	GAC		0.537	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		7	355	0	0	0	0.004482	0	7	355				
LRP5	4041	broad.mit.edu	37	11	68171004	68171004	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:68171004G>A	ENST00000294304.7	+	8	1744	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	546	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P546P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCACATTTTTG	0.607																																							uc001ont.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(1636-1638)CCG>CCA		low density lipoprotein receptor-related protein							101.0	82.0	88.0					11																	68171004		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171004G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1638G>A	11.37:g.68171004G>A						LRP5_uc009ysg.2_5'UTR	p.P546P	NM_002335	NP_002326	O75197	LRP5_HUMAN			8	1713	+			546			LDL-receptor class B 9.|Beta-propeller 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.1638G>A	CCDS8181.1																																																																																				0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		12	90	0	0	0	0.001855	0	12	90				
KRTAP5-11	440051	broad.mit.edu	37	11	71293440	71293440	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:71293440G>A	ENST00000398530.1	-	1	481	c.444C>T	c.(442-444)gtC>gtT	p.V148V	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	148	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V148V(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCACACGGGGACAcagcagc	0.557																																							uc001oqu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)GTC>GTT		keratin associated protein 5-11							77.0	85.0	82.0					11																	71293440		2200	4293	6493	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293440G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.444C>T	11.37:g.71293440G>A							p.V148V	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	482	-			148			6.|6 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000398530.1	37	c.444C>T	CCDS41685.1																																																																																				0.557	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		8	78	0	0	0	0.001855	0	8	78				
RELT	84957	broad.mit.edu	37	11	73103419	73103419	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:73103419G>T	ENST00000064780.2	+	6	792	c.531G>T	c.(529-531)ctG>ctT	p.L177L	RELT_ENST00000393580.2_Silent_p.L177L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	177						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L177L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCATGGGGCTGTTGGGCATCC	0.682																																							uc001otv.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(529-531)CTG>CTT		RELT tumor necrosis factor receptor precursor							60.0	62.0	61.0					11																	73103419		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103419G>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.531G>T	11.37:g.73103419G>T						RELT_uc001otw.2_Silent_p.L177L|RELT_uc009yto.1_Silent_p.L95L|RELT_uc001otx.2_5'Flank	p.L177L	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			6	696	+			177			Helical; (Potential).		Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.531G>T	CCDS8222.1																																																																																				0.682	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		19	60	1	0	8.10497e-08	0.010504	1.01634e-07	19	60				
DDIAS	220042	broad.mit.edu	37	11	82625869	82625869	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:82625869C>G	ENST00000533655.1	+	3	301	c.89C>G	c.(88-90)tCt>tGt	p.S30C	C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S30C|C11orf82_ENST00000524921.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525388.1_Missense_Mutation_p.S30C|C11orf82_ENST00000528759.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525361.1_Missense_Mutation_p.S30C	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		30					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S30C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTGCTTCTCTAGGATAATC	0.403																																							uc001ozt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)TCT>TGT		nitric oxide-inducible gene protein							110.0	106.0	108.0					11																	82625869		2202	4300	6502	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82625869C>G																												ENST00000533655.1:c.89C>G	11.37:g.82625869C>G	ENSP00000435421:p.Ser30Cys					C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.S30C	p.S30C	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			3	333	+			30					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.89C>G	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869456	0.32977	.	.	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000528759;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.25912	1.77;1.77	5.7	4.77	0.60923	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.068424	0.64402	D	0.000010	T	0.48960	0.1529	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.76575	0.988;0.636	T	0.48091	-0.9065	9	.	.	.	.	13.7219	0.62732	0.0:0.8456:0.1544:0.0	.	30;30	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	C	30;30;30;30;30;30;91;30;30;30	ENSP00000414687:S30C;ENSP00000435421:S30C	.	S	+	2	0	C11orf82	82303517	1.000000	0.71417	0.996000	0.52242	0.102000	0.19082	4.374000	0.59543	1.379000	0.46325	0.655000	0.94253	TCT		0.403	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			26	110	0	0	0	0.00333	0	26	110				
GRIA4	2893	broad.mit.edu	37	11	105781249	105781249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:105781249C>A	ENST00000530497.1	+	9	1247	c.1247C>A	c.(1246-1248)aCa>aAa	p.T416K	GRIA4_ENST00000393125.2_Missense_Mutation_p.T416K|GRIA4_ENST00000428631.2_Missense_Mutation_p.T416K|GRIA4_ENST00000525187.1_Missense_Mutation_p.T416K|GRIA4_ENST00000393127.2_Missense_Mutation_p.T416K|GRIA4_ENST00000282499.5_Missense_Mutation_p.T416K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	416					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.T416K(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GAGAACAGAACAGTGGTTGTA	0.423																																							uc001pix.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1246-1248)ACA>AAA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						258.0	200.0	220.0					11																	105781249		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105781249C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1247C>A	11.37:g.105781249C>A	ENSP00000435775:p.Thr416Lys					GRIA4_uc001piu.1_Missense_Mutation_p.T416K|GRIA4_uc001piw.2_Missense_Mutation_p.T416K|GRIA4_uc009yxk.1_Missense_Mutation_p.T416K	p.T416K	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	10	1693	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	416			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1247C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532118	0.85812	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.41400	1.18;1.0;1.0;1.18;1.0;1.0	6.08	6.08	0.98989	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	T	0.74450	0.3718	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.957;0.999;0.988	T	0.78578	-0.2150	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	416;416;416	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	416	ENSP00000376833:T416K;ENSP00000282499:T416K;ENSP00000376835:T416K;ENSP00000415551:T416K;ENSP00000435775:T416K;ENSP00000432180:T416K	ENSP00000282499:T416K	T	+	2	0	GRIA4	105286459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	ACA		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	53	1	0	0.000274275	0.004482	0.000305179	8	53				
KDELC2	143888	broad.mit.edu	37	11	108352829	108352829	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:108352829T>C	ENST00000323468.5	-	4	870	c.805A>G	c.(805-807)Aga>Gga	p.R269G	KDELC2_ENST00000434945.2_Missense_Mutation_p.R213G|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.R213G	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	269						endoplasmic reticulum (GO:0005783)		p.R269G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACAACATCTCTTGAATCCAGA	0.448																																							uc001pkj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)AGA>GGA		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							151.0	153.0	153.0					11																	108352829		1936	4136	6072	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108352829T>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.805A>G	11.37:g.108352829T>C	ENSP00000315386:p.Arg269Gly					KDELC2_uc001pki.2_Missense_Mutation_p.R213G	p.R269G	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	4	871	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	269					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.805A>G	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399704	0.42512	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.22336	1.96;1.96;1.96	5.35	3.14	0.36123	.	0.102020	0.64402	D	0.000003	T	0.20129	0.0484	L	0.61036	1.89	0.53688	D	0.999974	B;B	0.23990	0.095;0.032	B;B	0.29440	0.102;0.062	T	0.03969	-1.0988	10	0.26408	T	0.33	-7.3659	6.5204	0.22272	0.0:0.1564:0.189:0.6546	.	269;213	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	G	269;213;213	ENSP00000315386:R269G;ENSP00000413429:R213G;ENSP00000364799:R213G	ENSP00000315386:R269G	R	-	1	2	KDELC2	107858039	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.227000	0.42972	1.214000	0.43395	0.533000	0.62120	AGA		0.448	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		11	196	0	0	0	0.001368	0	11	196				
ZC3H12C	85463	broad.mit.edu	37	11	110023681	110023681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:110023681A>T	ENST00000278590.3	+	3	862	c.811A>T	c.(811-813)Aaa>Taa	p.K271*	ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.K272*|ZC3H12C_ENST00000453089.2_Nonsense_Mutation_p.K240*	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	271							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.K271*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-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;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAGAGGAATAAAATTGGCAGT	0.363																																							uc009yxw.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(811-813)AAA>TAA		zinc finger CCCH-type containing 12C							58.0	54.0	55.0					11																	110023681		1816	4074	5890	SO:0001587	stop_gained	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110023681A>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.811A>T	11.37:g.110023681A>T	ENSP00000278590:p.Lys271*					ZC3H12C_uc010rwc.1_Nonsense_Mutation_p.K272*|ZC3H12C_uc010rwd.1_Nonsense_Mutation_p.K272*|ZC3H12C_uc001pkr.3_Nonsense_Mutation_p.K240*|ZC3H12C_uc001pkq.2_Nonsense_Mutation_p.K240*	p.K271*	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	3	862	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-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)	271					B4DI65|B4DR47	Nonsense_Mutation	SNP	ENST00000278590.3	37	c.811A>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	46	12.268069	0.99652	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	.	.	.	5.86	5.86	0.93980	.	0.052462	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9947	16.2538	0.82501	1.0:0.0:0.0:0.0	.	.	.	.	X	271;272;240	.	ENSP00000278590:K271X	K	+	1	0	ZC3H12C	109528891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.437000	0.66544	2.244000	0.73946	0.528000	0.53228	AAA		0.363	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		10	31	0	0	0	0.008291	0	10	31				
RDX	5962	broad.mit.edu	37	11	110106875	110106875	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:110106875T>A	ENST00000343115.4	-	12	1612	c.1293A>T	c.(1291-1293)ctA>ctT	p.L431L	RDX_ENST00000528498.1_Silent_p.L431L|RDX_ENST00000405097.1_Silent_p.L431L|RDX_ENST00000528900.1_Silent_p.L84L|RDX_ENST00000544551.1_Silent_p.L295L|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	431	Glu-rich.				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.L431L(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)		TGGCTTCCTCTAGAAGTGCAA	0.313																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1291-1293)CTA>CTT		radixin							121.0	112.0	115.0					11																	110106875		2201	4298	6499	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110106875T>A	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.1293A>T	11.37:g.110106875T>A						RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.L431L|RDX_uc009yxz.2_Silent_p.L84L|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'UTR|RDX_uc001pkt.2_Silent_p.L85L|RDX_uc010rwe.1_Silent_p.L295L	p.L431L	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)	12	1603	-		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)	431			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.1293A>T	CCDS8343.1																																																																																				0.313	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		13	169	0	0	0	0.00499	0	13	169				
NXPE1	120400	broad.mit.edu	37	11	114401032	114401032	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:114401032T>C	ENST00000424269.1	-	2	697	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	NXPE1_ENST00000536312.1_Missense_Mutation_p.Y233C|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.Y91C			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	233						extracellular region (GO:0005576)		p.Y91C(1)									GTCATCCAGATATTCACAGAG	0.423																																							uc001ppa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TAT>TGT		hypothetical protein LOC120400							111.0	108.0	109.0					11																	114401032		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114401032T>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.698A>G	11.37:g.114401032T>C	ENSP00000411690:p.Tyr233Cys					FAM55A_uc010rxd.1_Translation_Start_Site|FAM55A_uc001ppb.1_Missense_Mutation_p.Y233C	p.Y91C	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	689	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	233					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.272A>G		.	.	.	.	.	.	.	.	.	.	T	14.98	2.698716	0.48307	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.59083	2.15;2.27;0.29	4.4	3.22	0.36961	.	0.121470	0.35903	N	0.002901	T	0.78400	0.4277	M	0.93106	3.38	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.69606	-0.5100	10	0.87932	D	0	.	8.8012	0.34909	0.1692:0.0:0.0:0.8308	.	233	F5H6W7	.	C	91;233;233	ENSP00000251921:Y91C;ENSP00000411690:Y233C;ENSP00000442984:Y233C	ENSP00000251921:Y91C	Y	-	2	0	FAM55A	113906242	0.914000	0.31030	0.019000	0.16419	0.109000	0.19521	0.982000	0.29539	0.748000	0.32831	0.533000	0.62120	TAT		0.423	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		5	135	0	0	0	0.001168	0	5	135				
ARHGEF12	23365	broad.mit.edu	37	11	120298883	120298883	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:120298883C>T	ENST00000397843.2	+	8	678	c.512C>T	c.(511-513)cCc>cTc	p.P171L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	171					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P171L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATATGTCTCCCATCATGACA	0.498			T	MLL	AML																																		uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(511-513)CCC>CTC		Rho guanine nucleotide exchange factor (GEF) 12							143.0	137.0	139.0					11																	120298883		1908	4127	6035	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120298883C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.512C>T	11.37:g.120298883C>T	ENSP00000380942:p.Pro171Leu					ARHGEF12_uc009zat.2_Missense_Mutation_p.P152L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.P68L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P68L	p.P171L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	8	519	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	171					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.512C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556122	0.86231	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	.	0.000000	0.43747	D	0.000525	T	0.62780	0.2456	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.78314	0.858;0.991;0.942	T	0.63211	-0.6688	10	0.56958	D	0.05	-9.121	15.2896	0.73857	0.0:0.8605:0.1395:0.0	.	68;152;171	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	171;152;68	ENSP00000380942:P171L;ENSP00000349056:P152L;ENSP00000432984:P68L	ENSP00000349056:P152L	P	+	2	0	ARHGEF12	119804093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.086000	0.57664	2.673000	0.90976	0.655000	0.94253	CCC		0.498	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	347	0	0	0	0.000602	0	5	347				
TBCEL	219899	broad.mit.edu	37	11	120924346	120924346	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:120924346A>T	ENST00000529397.1	+	4	460	c.360A>T	c.(358-360)acA>acT	p.T120T	TBCEL_ENST00000422003.2_Silent_p.T120T	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	120						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T120T(1)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TAGAAAGAACATGTGCTGGGT	0.433																																							uc009zay.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(358-360)ACA>ACT		tubulin folding cofactor E-like							122.0	118.0	119.0					11																	120924346		2203	4299	6502	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120924346A>T	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.360A>T	11.37:g.120924346A>T						TBCEL_uc001pxo.2_Silent_p.T120T|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_Intron	p.T120T	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	4	438	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	120			LRR 2.		Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.360A>T	CCDS31692.1																																																																																				0.433	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		6	185	0	0	0	0.001168	0	6	185				
SORL1	6653	broad.mit.edu	37	11	121429397	121429397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:121429397A>T	ENST00000260197.7	+	20	2890	c.2761A>T	c.(2761-2763)Aag>Tag	p.K921*		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	921					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.K921*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAGGATGTGAAGTGGCCCAA	0.547																																							uc001pxx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(2761-2763)AAG>TAG		sortilin-related receptor containing LDLR class							241.0	209.0	220.0					11																	121429397		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429397A>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2761A>T	11.37:g.121429397A>T	ENSP00000260197:p.Lys921*						p.K921*	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2841	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	921			Extracellular (Potential).|LDL-receptor class B 3.		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.2761A>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	41	9.018535	0.99038	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.53	4.34	0.51931	.	0.444083	0.21722	N	0.070111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4227	0.55529	0.7753:0.2247:0.0:0.0	.	.	.	.	X	921	.	ENSP00000260197:K921X	K	+	1	0	SORL1	120934607	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.127000	0.57944	2.105000	0.64084	0.533000	0.62120	AAG		0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		6	245	0	0	0	0.00308	0	6	245				
OR8D2	283160	broad.mit.edu	37	11	124189358	124189358	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:124189358A>G	ENST00000357438.2	-	1	826	c.736T>C	c.(736-738)Ttg>Ctg	p.L246L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L246L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CCCACAGCCAAGAGATGGGAG	0.438																																							uc010sah.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(736-738)TTG>CTG		olfactory receptor, family 8, subfamily D,							104.0	111.0	108.0					11																	124189358		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189358A>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.736T>C	11.37:g.124189358A>G							p.L246L	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	736	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	246			Helical; Name=6; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.736T>C	CCDS31707.1																																																																																				0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		4	285	0	0	0	0.009096	0	4	285				
OR8B2	26595	broad.mit.edu	37	11	124253151	124253151	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:124253151A>T	ENST00000375013.2	-	1	107	c.89T>A	c.(88-90)cTg>cAg	p.L30Q		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		CACTAGAAACAGGAAAAAGAG	0.418																																							uc010sai.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTG>CAG		olfactory receptor, family 8, subfamily B,							209.0	177.0	188.0					11																	124253151		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253151A>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.89T>A	11.37:g.124253151A>T	ENSP00000364152:p.Leu30Gln					OR8B2_uc001qab.3_RNA	p.L30Q	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	89	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	30			Helical; Name=1; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.89T>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	a	17.48	3.400761	0.62177	.	.	ENSG00000204293	ENST00000375013	T	0.17691	2.26	4.2	4.2	0.49525	.	0.000000	0.45867	D	0.000332	T	0.55097	0.1899	H	0.97103	3.94	0.28219	N	0.926628	D	0.76494	0.999	D	0.85130	0.997	T	0.63523	-0.6618	10	0.87932	D	0	.	13.4482	0.61153	1.0:0.0:0.0:0.0	.	30	Q96RD0	OR8B2_HUMAN	Q	30	ENSP00000364152:L30Q	ENSP00000364152:L30Q	L	-	2	0	OR8B2	123758361	0.198000	0.23374	0.008000	0.14137	0.008000	0.06430	4.406000	0.59748	1.911000	0.55334	0.329000	0.21502	CTG		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		68	265	0	0	0	0.00361	0	68	265				
CHEK1	1111	broad.mit.edu	37	11	125499354	125499354	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:125499354G>T	ENST00000534070.1	+	5	678	c.423G>T	c.(421-423)agG>agT	p.R141S	CHEK1_ENST00000427383.2_Splice_Site_p.R157S|CHEK1_ENST00000524737.1_Splice_Site_p.R141S|CHEK1_ENST00000438015.1_Splice_Site_p.R141S|CHEK1_ENST00000544373.1_Splice_Site_p.R141S|CHEK1_ENST00000428830.2_Splice_Site_p.R141S|CHEK1_ENST00000278916.3_Splice_Site_p.R141S|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	141	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.R141S(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGGATGAAAGGGGTAAGTTTA	0.294								Other conserved DNA damage response genes																															uc009zbo.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(421-423)AGG>AGT	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							81.0	82.0	82.0					11																	125499354		2201	4299	6500	SO:0001630	splice_region_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125499354G>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.424+1G>T	11.37:g.125499354G>T						CHEK1_uc010sbh.1_Missense_Mutation_p.R157S|CHEK1_uc010sbi.1_Missense_Mutation_p.R141S|CHEK1_uc001qcf.3_Missense_Mutation_p.R141S|CHEK1_uc009zbp.2_Missense_Mutation_p.R141S|CHEK1_uc001qcg.3_Missense_Mutation_p.R141S|CHEK1_uc009zbq.2_Missense_Mutation_p.R141S|CHEK1_uc001qci.1_RNA	p.R141S	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1315	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	141			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.423G>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691132	0.30052	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.1	-0.167	0.13347	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048338	0.85682	D	0.000000	T	0.08846	0.0219	N	0.02736	-0.51	0.47123	D	0.999326	B;B;B;B	0.17268	0.005;0.021;0.011;0.011	B;B;B;B	0.24394	0.017;0.053;0.029;0.029	T	0.24657	-1.0154	9	.	.	.	-19.7384	8.3118	0.32075	0.6695:0.0:0.3305:0.0	.	141;157;141;141	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	S	141;157;141;141;141;141;141;141;62;141	ENSP00000388648:R141S;ENSP00000391090:R157S;ENSP00000412504:R141S;ENSP00000442317:R141S;ENSP00000431525:R141S;ENSP00000431815:R141S;ENSP00000435371:R141S;ENSP00000432890:R141S;ENSP00000434646:R62S;ENSP00000278916:R141S	.	R	+	3	2	CHEK1	125004564	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.927000	0.40094	0.009000	0.14813	-0.236000	0.12185	AGG		0.294	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	Missense_Mutation	38	50	1	0	2.54651e-27	0.006999	4.15506e-27	38	50				
PRDM10	56980	broad.mit.edu	37	11	129785714	129785714	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:129785714C>G	ENST00000360871.3	-	16	2598	c.2367G>C	c.(2365-2367)aaG>aaC	p.K789N	PRDM10_ENST00000304538.6_Missense_Mutation_p.K703N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K763N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K707N|PRDM10_ENST00000358825.5_Missense_Mutation_p.K793N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K707N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	793					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K789N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTGGGTGGTTCTTCAGAATGT	0.542																																							uc001qfm.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2377-2379)AAG>AAC		PR domain containing 10 isoform 1							113.0	111.0	112.0					11																	129785714		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129785714C>G	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2367G>C	11.37:g.129785714C>G	ENSP00000354118:p.Lys789Asn					PRDM10_uc001qfj.2_Missense_Mutation_p.K707N|PRDM10_uc001qfk.2_Missense_Mutation_p.K703N|PRDM10_uc001qfl.2_Missense_Mutation_p.K707N|PRDM10_uc010sbx.1_Missense_Mutation_p.K703N|PRDM10_uc001qfn.2_Missense_Mutation_p.K789N|PRDM10_uc009zcs.1_5'UTR	p.K793N	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	17	2611	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	793			C2H2-type 9.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2379G>C	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959193	0.74016	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12465	2.71;2.72;2.71;2.68;2.75;2.68;2.76	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.32530	0.975	0.54753	D	0.999987	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.996;0.997;0.996	T	0.00544	-1.1679	10	0.87932	D	0	-37.5536	10.3126	0.43718	0.0:0.8216:0.0:0.1784	.	703;789;793;707;703;707	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	N	793;703;789;707;763;707;506	ENSP00000351686:K793N;ENSP00000302669:K703N;ENSP00000354118:K789N;ENSP00000398431:K707N;ENSP00000431262:K763N;ENSP00000432237:K707N;ENSP00000435940:K506N	ENSP00000302669:K703N	K	-	3	2	PRDM10	129290924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.011000	0.40922	2.941000	0.99782	0.655000	0.94253	AAG		0.542	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		20	225	0	0	0	0.007413	0	20	225				
IQSEC3	440073	broad.mit.edu	37	12	266787	266787	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:266787C>A	ENST00000538872.1	+	7	2488	c.2370C>A	c.(2368-2370)aaC>aaA	p.N790K	IQSEC3_ENST00000326261.4_Missense_Mutation_p.N790K|IQSEC3_ENST00000382841.2_Missense_Mutation_p.N487K			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	790	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.N487K(1)|p.N790K(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)		TCCTCCTCAACACCGACATGT	0.582																																							uc001qhw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1459-1461)AAC>AAA		IQ motif and Sec7 domain 3							311.0	218.0	249.0					12																	266787		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266787C>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.2370C>A	12.37:g.266787C>A	ENSP00000437554:p.Asn790Lys					IQSEC3_uc001qhu.1_Missense_Mutation_p.N487K	p.N487K	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1467	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		790			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1461C>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913711	0.92178	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.67171	-0.25;-0.25;-0.25	4.51	4.51	0.55191	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.088549	0.85682	D	0.000000	D	0.89347	0.6689	H	0.98965	4.385	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.988;0.99	D	0.94112	0.7372	10	0.87932	D	0	.	17.5649	0.87917	0.0:1.0:0.0:0.0	.	790;487	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	K	790;790;487	ENSP00000437554:N790K;ENSP00000315662:N790K;ENSP00000372292:N487K	ENSP00000315662:N790K	N	+	3	2	IQSEC3	137048	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.625000	0.46452	2.233000	0.73108	0.491000	0.48974	AAC		0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		6	105	1	0	0.00116845	0.001168	0.00127467	6	105				
KCNA1	3736	broad.mit.edu	37	12	5020837	5020837	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:5020837C>T	ENST00000382545.3	+	2	1400	c.293C>T	c.(292-294)tCc>tTc	p.S98F	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)	98					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.S98F(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)	TACTACCAGTCCGGCGGCCGC	0.602																																							uc001qnh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(292-294)TCC>TTC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						40.0	46.0	44.0					12																	5020837		2203	4299	6502	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.chr12:5020837C>T	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.293C>T	12.37:g.5020837C>T	ENSP00000371985:p.Ser98Phe						p.S98F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1398	+			98					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.293C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149350	0.78001	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.78126	-1.15	4.35	4.35	0.52113	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94655	0.7843	10	0.87932	D	0	.	16.4094	0.83703	0.0:1.0:0.0:0.0	.	98	Q09470	KCNA1_HUMAN	F	98	ENSP00000371985:S98F	ENSP00000228858:S98F	S	+	2	0	KCNA1	4891098	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.548000	0.82154	2.415000	0.81967	0.655000	0.94253	TCC		0.602	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		6	29	0	0	0	0.001368	0	6	29				
SLC2A3	6515	broad.mit.edu	37	12	8085705	8085705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:8085705C>A	ENST00000075120.7	-	3	387	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	49					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.K49N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCATTTCCCTTGTCCGTCA	0.463											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(96;424 1461 14416 20933 23688)	Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(145-147)AAG>AAT		solute carrier family 2 (facilitated glucose							107.0	98.0	101.0					12																	8085705		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8085705C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.147G>T	12.37:g.8085705C>A	ENSP00000075120:p.Lys49Asn		OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	SLC2A3_uc001qts.2_Missense_Mutation_p.K49N	p.K49N	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	3	409	-			49			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.147G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822960	0.32237	.	.	ENSG00000059804	ENST00000075120;ENST00000544291	T;T	0.73897	-0.79;-0.79	4.17	-2.82	0.05787	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.358977	0.28459	N	0.015266	T	0.59348	0.2187	N	0.25647	0.755	0.09310	N	1	B	0.30741	0.293	B	0.39339	0.297	T	0.55198	-0.8178	10	0.66056	D	0.02	.	5.6298	0.17504	0.0:0.2299:0.4013:0.3688	.	49	P11169	GTR3_HUMAN	N	49;18	ENSP00000075120:K49N;ENSP00000440750:K18N	ENSP00000075120:K49N	K	-	3	2	SLC2A3	7976972	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.749000	0.04813	-0.771000	0.04608	0.462000	0.41574	AAG		0.463	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		29	62	1	0	1.7881e-09	0.008361	2.3708e-09	29	62				
TAS2R46	259292	broad.mit.edu	37	12	11214459	11214459	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:11214459A>C	ENST00000533467.1	-	1	434	c.435T>G	c.(433-435)ttT>ttG	p.F145L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	145					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.?(1)|p.F145L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTTTATCACAAAAAGATGAC	0.348																																							uc001qzp.1		NA																	2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(1)	1						c.(433-435)TTT>TTG		taste receptor, type 2, member 46							108.0	114.0	112.0					12																	11214459		2067	4259	6326	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214459A>C	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.435T>G	12.37:g.11214459A>C	ENSP00000436450:p.Phe145Leu					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.F145L	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	435	-			145			Helical; Name=4; (Potential).		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.435T>G	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	A	4.145	0.025222	0.08054	.	.	ENSG00000226761	ENST00000533467	T	0.36340	1.26	2.37	-3.71	0.04424	.	.	.	.	.	T	0.10465	0.0256	N	0.02315	-0.6	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.33369	-0.9871	9	0.11485	T	0.65	.	3.4805	0.07601	0.3727:0.0:0.3609:0.2664	.	145	P59540	T2R46_HUMAN	L	145	ENSP00000436450:F145L	ENSP00000436450:F145L	F	-	3	2	TAS2R46	11105726	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.787000	0.00769	-0.280000	0.09154	0.163000	0.16589	TTT		0.348	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		4	91	0	0	0	0.001984	0	4	91				
ABCC9	10060	broad.mit.edu	37	12	21970121	21970121	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:21970121C>A	ENST00000261201.4	-	31	3891	c.3892G>T	c.(3892-3894)Gat>Tat	p.D1298Y	ABCC9_ENST00000345162.2_Splice_Site_p.D1262Y|ABCC9_ENST00000261200.4_Splice_Site_p.D1298Y	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1298					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|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 channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.D1298Y(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGAGCAATACCCATTGTGCCT	0.398																																							uc001rfi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(3892-3894)GAT>TAT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						131.0	139.0	136.0					12																	21970121		2203	4300	6503	SO:0001630	splice_region_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970121C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3892+1G>T	12.37:g.21970121C>A						ABCC9_uc001rfh.2_Missense_Mutation_p.D1298Y|ABCC9_uc001rfj.1_Missense_Mutation_p.D1262Y	p.D1298Y	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3912	-			1298			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3892G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125867	0.77436	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93547	-3.24;-3.08;-3.24;-3.22	4.52	4.52	0.55395	ABC transporter, transmembrane domain, type 1 (1);	0.100649	0.64402	D	0.000002	D	0.93468	0.7916	L	0.31752	0.955	0.80722	D	1	D;D	0.67145	0.966;0.996	P;P	0.62560	0.492;0.904	D	0.92577	0.6071	9	.	.	.	-18.1203	17.7929	0.88561	0.0:1.0:0.0:0.0	.	1298;1298	O60706;O60706-2	ABCC9_HUMAN;.	Y	1298;925;1298;1262	ENSP00000261200:D1298Y;ENSP00000440521:D925Y;ENSP00000261201:D1298Y;ENSP00000261202:D1262Y	.	D	-	1	0	ABCC9	21861388	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.839000	0.75364	2.525000	0.85131	0.650000	0.86243	GAT		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	Missense_Mutation	47	91	1	0	1.30916e-28	0.00361	2.1435e-28	47	91				
LRMP	4033	broad.mit.edu	37	12	25243005	25243005	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:25243005A>T	ENST00000354454.3	+	13	1309	c.480A>T	c.(478-480)agA>agT	p.R160S	LRMP_ENST00000548766.1_Missense_Mutation_p.R160S|LRMP_ENST00000547044.1_Missense_Mutation_p.R160S	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	216					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R160S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AATTTCTCAGATTATCTTTGG	0.393																																							uc001rgh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(478-480)AGA>AGT		lymphoid-restricted membrane protein							116.0	120.0	119.0					12																	25243005		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25243005A>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.480A>T	12.37:g.25243005A>T	ENSP00000346442:p.Arg160Ser					LRMP_uc010sja.1_Missense_Mutation_p.R160S|LRMP_uc010sjb.1_Missense_Mutation_p.R107S|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.R160S|LRMP_uc010sjd.1_Missense_Mutation_p.R107S	p.R160S	NM_006152	NP_006143	Q12912	LRMP_HUMAN			13	1514	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		216			Cytoplasmic (Potential).		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.480A>T	CCDS8701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.077484|4.077484	0.76528|0.76528	.|.	.|.	ENSG00000118308|ENSG00000118308	ENST00000555885|ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	.|T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27	5.58|5.58	-3.05|-3.05	0.05396|0.05396	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26412|0.26412	0.0645|0.0645	M|M	0.72894|0.72894	2.215|2.215	0.52099|0.52099	D|D	0.999948|0.999948	.|P	.|0.41232	.|0.743	.|P	.|0.54174	.|0.744	T|T	0.04140|0.04140	-1.0974|-1.0974	5|10	.|0.44086	.|T	.|0.13	-18.3958|-18.3958	7.4038|7.4038	0.26979|0.26979	0.2559:0.2761:0.468:0.0|0.2559:0.2761:0.468:0.0	.|.	.|216	.|Q12912	.|LRMP_HUMAN	V|S	11|160;107;160;160	.|ENSP00000346442:R160S;ENSP00000444056:R107S;ENSP00000446496:R160S;ENSP00000450246:R160S	.|ENSP00000346442:R160S	D|R	+|+	2|3	0|2	LRMP|LRMP	25134272|25134272	0.023000|0.023000	0.18921|0.18921	0.959000|0.959000	0.39883|0.39883	0.995000|0.995000	0.86356|0.86356	-0.101000|-0.101000	0.10973|0.10973	-0.546000|-0.546000	0.06216|0.06216	-0.290000|-0.290000	0.09829|0.09829	GAT|AGA		0.393	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		27	182	0	0	0	0.002836	0	27	182				
PPFIBP1	8496	broad.mit.edu	37	12	27835424	27835424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:27835424G>T	ENST00000318304.8	+	22	2452	c.2169G>T	c.(2167-2169)tgG>tgT	p.W723C	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.W692C|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.W717C|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.W570C	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	723	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.W717C(1)|p.W723C(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATTTCAACTGGGTCACTAGTA	0.363																																							uc001ric.1		NA																PPFIBP1/ALK(3)	2	Substitution - Missense(2)		lung(2)	soft_tissue(3)|kidney(1)|skin(1)	5						c.(2167-2169)TGG>TGT		PTPRF interacting protein binding protein 1							75.0	84.0	81.0					12																	27835424		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835424G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2169G>T	12.37:g.27835424G>T	ENSP00000314724:p.Trp723Cys					PPFIBP1_uc010sjr.1_Missense_Mutation_p.W554C|PPFIBP1_uc001rib.1_Missense_Mutation_p.W717C|PPFIBP1_uc001ria.2_Missense_Mutation_p.W692C|PPFIBP1_uc001rid.1_Missense_Mutation_p.W570C|PPFIBP1_uc001rif.1_Missense_Mutation_p.W230C	p.W723C	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			22	2546	+	Lung SC(9;0.0873)		723			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2169G>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238672	0.58995	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.63	5.63	0.86233	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.32258	U	0.006348	T	0.35711	0.0941	M	0.91717	3.235	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	1.0;1.0;1.0;1.0;1.0	T	0.39121	-0.9629	10	0.87932	D	0	-10.18	19.3046	0.94155	0.0:0.0:1.0:0.0	.	570;554;723;717;692	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	C	554;570;723;692;717	ENSP00000444304:W554C;ENSP00000445425:W570C;ENSP00000314724:W723C;ENSP00000443442:W692C;ENSP00000228425:W717C	ENSP00000228425:W717C	W	+	3	0	PPFIBP1	27726691	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	9.735000	0.98825	2.652000	0.90054	0.655000	0.94253	TGG		0.363	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		49	120	1	0	1.86633e-21	0.00361	2.92928e-21	49	120				
KIAA1551	55196	broad.mit.edu	37	12	32137134	32137134	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:32137134A>G	ENST00000312561.4	+	4	3659	c.3245A>G	c.(3244-3246)tAc>tGc	p.Y1082C	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1082								p.Y1082C(1)									CAAACTACATACCAGACCTCA	0.403																																							uc001rks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3244-3246)TAC>TGC		hypothetical protein LOC55196							93.0	90.0	91.0					12																	32137134		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32137134A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3245A>G	12.37:g.32137134A>G	ENSP00000310338:p.Tyr1082Cys					C12orf35_uc001rkt.2_5'Flank	p.Y1082C	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3659	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1082					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3245A>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	12.11	1.840689	0.32513	.	.	ENSG00000174718	ENST00000312561	T	0.11385	2.78	5.37	3.01	0.34805	.	2.374740	0.01436	N	0.014918	T	0.06005	0.0156	N	0.22421	0.69	0.09310	N	1	P	0.47409	0.895	B	0.30179	0.112	T	0.28902	-1.0029	9	.	.	.	.	1.8633	0.03193	0.5637:0.1564:0.0866:0.1933	.	1082	Q9HCM1	CL035_HUMAN	C	1082	ENSP00000310338:Y1082C	.	Y	+	2	0	C12orf35	32028401	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.470000	0.22084	0.348000	0.23949	0.460000	0.39030	TAC		0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	216	0	0	0	0.001168	0	5	216				
KIF21A	55605	broad.mit.edu	37	12	39752118	39752118	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:39752118T>A	ENST00000361418.5	-	8	1092	c.1077A>T	c.(1075-1077)ttA>ttT	p.L359F	KIF21A_ENST00000395670.3_Missense_Mutation_p.L359F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L359F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L359F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L359F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	359	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.L359F(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)				TCAGGGTGTTTAACGTTTCCA	0.393																																							uc001rly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1075-1077)TTA>TTT		kinesin family member 21A							300.0	265.0	277.0					12																	39752118		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39752118T>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.1077A>T	12.37:g.39752118T>A	ENSP00000354878:p.Leu359Phe					KIF21A_uc001rlx.2_Missense_Mutation_p.L359F|KIF21A_uc001rlz.2_Missense_Mutation_p.L359F|KIF21A_uc010skl.1_Missense_Mutation_p.L359F|KIF21A_uc001rma.1_Missense_Mutation_p.L367F	p.L359F	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			8	1223	-		Lung NSC(34;0.179)|all_lung(34;0.213)	359					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1077A>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080514	0.76528	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	4.33	1.62	0.23740	Kinesin, motor domain (3);	0.000000	0.39475	N	0.001345	D	0.85234	0.5650	M	0.82823	2.61	0.50632	D	0.999882	D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;1.0	D;D;D;D;D	0.97110	0.991;0.996;0.988;1.0;0.987	T	0.83134	-0.0112	10	0.87932	D	0	.	5.4131	0.16358	0.0:0.4025:0.0:0.5975	.	359;359;359;359;359	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	F	359;359;359;359;359;359;182	ENSP00000354851:L359F;ENSP00000379029:L359F;ENSP00000445606:L359F;ENSP00000354878:L359F;ENSP00000438075:L359F;ENSP00000449700:L182F	ENSP00000344501:L359F	L	-	3	2	KIF21A	38038385	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	0.963000	0.29293	0.632000	0.30432	0.533000	0.62120	TTA		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		48	357	0	0	0	0.00361	0	48	357				
ADAMTS20	80070	broad.mit.edu	37	12	43826240	43826240	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:43826240G>T	ENST00000389420.3	-	21	2962	c.2963C>A	c.(2962-2964)tCt>tAt	p.S988Y	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S142Y|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S988Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	988	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S988Y(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGATTCTCGAGACCTTTCCCC	0.373																																							uc010skx.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2962-2964)TCT>TAT		a disintegrin-like and metalloprotease with							106.0	106.0	106.0					12																	43826240		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826240G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2963C>A	12.37:g.43826240G>T	ENSP00000374071:p.Ser988Tyr					ADAMTS20_uc001rno.1_Missense_Mutation_p.S142Y|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S142Y	p.S988Y	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	2963	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	988			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2963C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495613	0.44352	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.89	3.92	0.45320	.	0.585375	0.15260	N	0.271822	T	0.61073	0.2318	L	0.35487	1.065	0.23304	N	0.99794	B;D	0.67145	0.1;0.996	B;D	0.66196	0.155;0.942	T	0.54063	-0.8349	10	0.54805	T	0.06	.	15.611	0.76716	0.0:0.2339:0.766:0.0	.	988;142	P59510;E9PBD5	ATS20_HUMAN;.	Y	988;154;142;988;988	ENSP00000374071:S988Y;ENSP00000447427:S154Y;ENSP00000378911:S142Y;ENSP00000448341:S988Y	ENSP00000374068:S988Y	S	-	2	0	ADAMTS20	42112507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.711000	0.47177	2.625000	0.88918	0.655000	0.94253	TCT		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		12	78	1	0	2.27111e-07	0.001368	2.78527e-07	12	78				
PUS7L	83448	broad.mit.edu	37	12	44130285	44130285	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:44130285C>G	ENST00000416848.2	-	7	2112	c.1624G>C	c.(1624-1626)Gca>Cca	p.A542P	PUS7L_ENST00000431332.3_Missense_Mutation_p.A229P|PUS7L_ENST00000344862.5_Missense_Mutation_p.A542P|PUS7L_ENST00000551923.1_Missense_Mutation_p.A542P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	542	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A542P(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TAAGATACTGCCTCATTCCAA	0.428																																							uc001rnq.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1624-1626)GCA>CCA		pseudouridylate synthase 7 homolog (S.							186.0	155.0	165.0					12																	44130285		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44130285C>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1624G>C	12.37:g.44130285C>G	ENSP00000415899:p.Ala542Pro					PUS7L_uc001rnr.3_Missense_Mutation_p.A542P|PUS7L_uc001rns.3_Missense_Mutation_p.A542P|PUS7L_uc009zkb.2_Missense_Mutation_p.A229P	p.A542P	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	7	2113	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	542			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1624G>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447137	0.63178	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.02	4.12	0.48240	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79674	-0.1705	10	0.62326	D	0.03	-14.9979	15.5522	0.76161	0.1395:0.8604:0.0:0.0	.	542	Q9H0K6	PUS7L_HUMAN	P	542;542;542;229	ENSP00000415899:A542P;ENSP00000343081:A542P;ENSP00000447706:A542P;ENSP00000398497:A229P	ENSP00000343081:A542P	A	-	1	0	PUS7L	42416552	1.000000	0.71417	0.989000	0.46669	0.341000	0.28922	3.735000	0.55044	1.426000	0.47256	0.591000	0.81541	GCA		0.428	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		8	183	0	0	0	0.00308	0	8	183				
PUS7L	83448	broad.mit.edu	37	12	44136349	44136349	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:44136349A>C	ENST00000416848.2	-	5	1761	c.1273T>G	c.(1273-1275)Ttt>Gtt	p.F425V	PUS7L_ENST00000431332.3_Missense_Mutation_p.F112V|RP11-210N13.1_ENST00000548437.1_RNA|PUS7L_ENST00000344862.5_Missense_Mutation_p.F425V|PUS7L_ENST00000551923.1_Missense_Mutation_p.F425V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	425	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.F425V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TAATTCACAAAGCCTTTTTTC	0.294																																							uc001rnq.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1273-1275)TTT>GTT		pseudouridylate synthase 7 homolog (S.							106.0	101.0	103.0					12																	44136349		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44136349A>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1273T>G	12.37:g.44136349A>C	ENSP00000415899:p.Phe425Val					PUS7L_uc001rnr.3_Missense_Mutation_p.F425V|PUS7L_uc001rns.3_Missense_Mutation_p.F425V|PUS7L_uc009zkb.2_Missense_Mutation_p.F112V	p.F425V	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	5	1762	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	425			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1273T>G	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226034	0.79576	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	4.72	4.72	0.59763	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.053173	0.85682	N	0.000000	T	0.58864	0.2152	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66380	-0.5938	10	0.87932	D	0	-22.5701	14.8969	0.70651	1.0:0.0:0.0:0.0	.	425	Q9H0K6	PUS7L_HUMAN	V	425;425;425;112;112;112	ENSP00000415899:F425V;ENSP00000343081:F425V;ENSP00000447706:F425V;ENSP00000398497:F112V;ENSP00000449222:F112V;ENSP00000450341:F112V	ENSP00000343081:F425V	F	-	1	0	PUS7L	42422616	1.000000	0.71417	0.938000	0.37757	0.894000	0.52154	8.471000	0.90403	2.061000	0.61500	0.383000	0.25322	TTT		0.294	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		6	132	0	0	0	0.001168	0	6	132				
CCDC65	85478	broad.mit.edu	37	12	49315194	49315195	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:49315194_49315195CA>AT	ENST00000320516.4	+	8	1611_1612	c.1423_1424CA>AT	c.(1423-1425)CAt>ATt	p.H475I	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.H475I	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	475								p.H475I(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACGTATAGCCCATCCAGGTGAT	0.426																																							uc001rso.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1423-1425)CAT>ATT		coiled-coil domain containing 65																																				SO:0001583	missense	85478							g.chr12:49315194_49315195CA>AT		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		Exception_encountered	12.37:g.49315194_49315195delinsAT	ENSP00000312706:p.His475Ile						p.H475I	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			8	1650_1651	+			475					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	DNP	ENST00000320516.4	37	c.1423_1424CA>AT	CCDS8772.1																																																																																				0.426	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		12	189	0	0	0	0.004672	0	12	189				
KRT75	9119	broad.mit.edu	37	12	52818459	52818459	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:52818459T>G	ENST00000252245.5	-	9	1718	c.1498A>C	c.(1498-1500)Agc>Cgc	p.S500R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	500	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S500R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGTAGCCGCTGCCCCCACCG	0.632																																							uc001saj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)AGC>CGC		keratin 75							63.0	69.0	67.0					12																	52818459		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52818459T>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1498A>C	12.37:g.52818459T>G	ENSP00000252245:p.Ser500Arg						p.S500R	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	9	1520	-			500			Tail.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1498A>C	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	T	4.062	0.009195	0.07912	.	.	ENSG00000170454	ENST00000252245	T	0.78003	-1.14	4.88	3.72	0.42706	.	0.000000	0.51477	D	0.000094	T	0.73257	0.3564	M	0.75447	2.3	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63229	-0.6684	10	0.39692	T	0.17	.	7.2761	0.26286	0.0:0.0997:0.0:0.9003	.	500	O95678	K2C75_HUMAN	R	500	ENSP00000252245:S500R	ENSP00000252245:S500R	S	-	1	0	KRT75	51104726	0.970000	0.33590	0.422000	0.26621	0.087000	0.18053	4.087000	0.57671	0.875000	0.35847	0.482000	0.46254	AGC		0.632	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		4	65	0	0	0	0.001168	0	4	65				
KRT75	9119	broad.mit.edu	37	12	52822519	52822519	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:52822519C>G	ENST00000252245.5	-	6	1264	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	348	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E348D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGACCTGCAGCTCCTCGTACT	0.557																																							uc001saj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GAG>GAC		keratin 75							138.0	116.0	124.0					12																	52822519		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52822519C>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1044G>C	12.37:g.52822519C>G	ENSP00000252245:p.Glu348Asp						p.E348D	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1066	-			348			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1044G>C	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755935	0.69648	.	.	ENSG00000170454	ENST00000252245	D	0.89343	-2.5	5.42	5.42	0.78866	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000042	D	0.93009	0.7775	M	0.72118	2.19	0.49798	D	0.999822	D	0.89917	1.0	D	0.79108	0.992	D	0.93172	0.6567	10	0.87932	D	0	.	10.639	0.45582	0.0:0.7928:0.1342:0.073	.	348	O95678	K2C75_HUMAN	D	348	ENSP00000252245:E348D	ENSP00000252245:E348D	E	-	3	2	KRT75	51108786	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.032000	0.41127	2.544000	0.85801	0.561000	0.74099	GAG		0.557	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		5	133	0	0	0	0.001168	0	5	133				
AMHR2	269	broad.mit.edu	37	12	53819601	53819601	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:53819601A>G	ENST00000257863.4	+	6	830	c.750A>G	c.(748-750)ccA>ccG	p.P250P	AMHR2_ENST00000379791.3_Silent_p.P250P|AMHR2_ENST00000550311.1_Silent_p.P250P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.P250P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACGAACTTCCAGGCCTACAGC	0.597																																							uc001scx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-750)CCA>CCG		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						77.0	65.0	69.0					12																	53819601		2203	4300	6503	SO:0001819	synonymous_variant	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819601A>G	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.750A>G	12.37:g.53819601A>G						AMHR2_uc009zmy.1_Silent_p.P250P	p.P250P	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			6	828	+			250			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.750A>G	CCDS8858.1																																																																																				0.597	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	79	0	0	0	0.004672	0	3	79				
NCKAP1L	3071	broad.mit.edu	37	12	54925124	54925124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:54925124C>T	ENST00000293373.6	+	23	2666	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.Q813*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	863					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.Q863*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTGACCTCTCAGATTGTGGA	0.512																																							uc001sgc.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2587-2589)CAG>TAG		NCK-associated protein 1-like							160.0	167.0	164.0					12																	54925124		2203	4300	6503	SO:0001587	stop_gained	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925124C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2587C>T	12.37:g.54925124C>T	ENSP00000293373:p.Gln863*					NCKAP1L_uc010sox.1_Nonsense_Mutation_p.Q405*|NCKAP1L_uc010soy.1_Nonsense_Mutation_p.Q813*	p.Q863*	NM_005337	NP_005328	P55160	NCKPL_HUMAN			23	2666	+			863					B4DUT5|Q52LW0	Nonsense_Mutation	SNP	ENST00000293373.6	37	c.2587C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	42	9.238720	0.99110	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-17.9254	15.4511	0.75274	0.0:1.0:0.0:0.0	.	.	.	.	X	863;813	.	ENSP00000293373:Q863X	Q	+	1	0	NCKAP1L	53211391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.590000	0.87494	0.561000	0.74099	CAG		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		8	291	0	0	0	0.00308	0	8	291				
OR9K2	441639	broad.mit.edu	37	12	55524459	55524459	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:55524459C>T	ENST00000305377.5	+	1	995	c.907C>T	c.(907-909)Cta>Tta	p.L303L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L303L(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTTACTCCCTAGTCACTCC	0.393																																							uc010spe.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(907-909)CTA>TTA		olfactory receptor, family 9, subfamily K,							156.0	147.0	150.0					12																	55524459		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524459C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.907C>T	12.37:g.55524459C>T							p.L303L	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	907	+			303					B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.907C>T	CCDS31814.1																																																																																				0.393	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			45	132	0	0	0	0.00361	0	45	132				
OR6C1	390321	broad.mit.edu	37	12	55715313	55715313	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:55715313A>C	ENST00000379668.2	+	1	968	c.930A>C	c.(928-930)acA>acC	p.T310T		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T310T(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TATTTTTCACAAGCACATGAA	0.408																																							uc010spi.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(928-930)ACA>ACC		olfactory receptor, family 6, subfamily C,							94.0	92.0	93.0					12																	55715313		2203	4298	6501	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715313A>C	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.930A>C	12.37:g.55715313A>C							p.T310T	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	930	+			310			Cytoplasmic (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.930A>C	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		30	213	0	0	0	0.009535	0	30	213				
METTL7B	196410	broad.mit.edu	37	12	56075950	56075950	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56075950A>G	ENST00000394252.3	+	1	621	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	138							methyltransferase activity (GO:0008168)	p.M88V(1)|p.M138V(1)		kidney(1)|large_intestine(1)|lung(4)	6						TGATGGCTCCATGGATGTGGT	0.577																																							uc010spr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(412-414)ATG>GTG		methyltransferase like 7B precursor							82.0	71.0	75.0					12																	56075950		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075950A>G		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.412A>G	12.37:g.56075950A>G	ENSP00000377796:p.Met138Val						p.M138V	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			1	621	+			138					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.412A>G	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	A	8.430	0.848489	0.17034	.	.	ENSG00000170439	ENST00000394252	T	0.07688	3.17	4.86	2.49	0.30216	Methyltransferase type 11 (1);	0.207502	0.50627	N	0.000111	T	0.02533	0.0077	N	0.01352	-0.895	0.34469	D	0.702564	B	0.16166	0.016	B	0.28139	0.086	T	0.40683	-0.9550	10	0.07813	T	0.8	-21.5631	7.6335	0.28253	0.8225:0.0:0.1775:0.0	.	138	Q6UX53	MET7B_HUMAN	V	138	ENSP00000377796:M138V	ENSP00000377796:M138V	M	+	1	0	METTL7B	54362217	0.934000	0.31675	1.000000	0.80357	0.981000	0.71138	1.671000	0.37513	0.345000	0.23873	-0.290000	0.09829	ATG		0.577	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		11	50	0	0	0	0.001368	0	11	50				
PMEL	6490	broad.mit.edu	37	12	56355437	56355437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56355437C>A	ENST00000548747.1	-	2	818	c.156G>T	c.(154-156)tgG>tgT	p.W52C	PMEL_ENST00000552882.1_Missense_Mutation_p.W52C|PMEL_ENST00000360714.4_Missense_Mutation_p.W52C|PMEL_ENST00000548493.1_Missense_Mutation_p.W52C|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Missense_Mutation_p.W52C|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.W52C			P40967	PMEL_HUMAN	premelanosome protein	52					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.W52C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTTCTGTCCACTCTGGAT	0.522																																							uc001sip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(154-156)TGG>TGT		silver homolog							127.0	125.0	126.0					12																	56355437		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355437C>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.156G>T	12.37:g.56355437C>A	ENSP00000448828:p.Trp52Cys					SILV_uc001siq.2_Missense_Mutation_p.W52C|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.W52C	p.W52C	NM_006928	NP_008859	P40967	PMEL_HUMAN			2	187	-			52					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.156G>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	c	18.58	3.653661	0.67472	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T;T	0.44881	2.53;2.51;2.51;2.51;2.54;2.21;0.91;1.81;1.6	4.74	4.74	0.60224	.	0.000000	0.48767	D	0.000173	T	0.66187	0.2764	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70887	-0.4750	10	0.87932	D	0	-16.012	15.1271	0.72493	0.0:1.0:0.0:0.0	.	52;52	P40967-2;P40967	.;PMEL_HUMAN	C	52;52;52;52;52;52;52;52;52;52;55	ENSP00000402758:W52C;ENSP00000449690:W52C;ENSP00000448828:W52C;ENSP00000447374:W52C;ENSP00000353940:W52C;ENSP00000438695:W52C;ENSP00000447732:W52C;ENSP00000448849:W52C;ENSP00000446662:W52C	ENSP00000353940:W52C	W	-	3	0	PMEL	54641704	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.190000	0.58365	2.629000	0.89072	0.643000	0.83706	TGG		0.522	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		28	178	1	0	4.02929e-09	0.002096	5.27592e-09	28	178				
ARHGAP9	64333	broad.mit.edu	37	12	57870424	57870424	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:57870424T>A	ENST00000356411.2	-	7	1112	c.974A>T	c.(973-975)aAg>aTg	p.K325M	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.K325M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.K325M|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.K404M|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.K396M|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.K141M|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.K325M(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGACCCGACTTTTCCACCTC	0.582																																							uc001sod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1186-1188)AAG>ATG		Rho GTPase activating protein 9 isoform 1							104.0	101.0	102.0					12																	57870424		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57870424T>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.974A>T	12.37:g.57870424T>A	ENSP00000348782:p.Lys325Met					ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.K141M|ARHGAP9_uc001soa.2_Translation_Start_Site|ARHGAP9_uc001sob.2_Missense_Mutation_p.K325M|ARHGAP9_uc001soc.2_Missense_Mutation_p.K325M|ARHGAP9_uc001soe.1_Missense_Mutation_p.K404M	p.K396M	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		10	1380	-			325			PH.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1187A>T		.	.	.	.	.	.	.	.	.	.	T	14.09	2.430691	0.43122	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	4.62	0.87	0.19102	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.242365	0.39146	N	0.001453	D	0.87993	0.6318	M	0.79926	2.475	0.38367	D	0.944762	B;B;B;P;P	0.51240	0.393;0.433;0.255;0.885;0.943	B;B;B;P;P	0.62885	0.399;0.233;0.15;0.848;0.908	D	0.86223	0.1632	10	0.87932	D	0	.	7.0937	0.25297	0.0:0.2885:0.0:0.7115	.	404;325;325;325;141	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	M	325;325;325;396;374;141;141;110	ENSP00000377380:K325M;ENSP00000348782:K325M;ENSP00000394307:K325M;ENSP00000377386:K396M;ENSP00000397950:K141M;ENSP00000449829:K141M	ENSP00000344852:K374M	K	-	2	0	ARHGAP9	56156691	1.000000	0.71417	0.990000	0.47175	0.708000	0.40852	1.033000	0.30191	-0.029000	0.13827	0.533000	0.62120	AAG		0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		5	187	0	0	0	0.000602	0	5	187				
XPOT	11260	broad.mit.edu	37	12	64814133	64814133	+	Splice_Site	SNP	G	G	T	rs370932701		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:64814133G>T	ENST00000332707.5	+	8	1204	c.675G>T	c.(673-675)agG>agT	p.R225S		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	225	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.R225S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CCATTACCAGGTTTATAAATA	0.308																																							uc001ssb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(673-675)AGG>AGT		tRNA exportin							62.0	65.0	64.0					12																	64814133		2203	4300	6503	SO:0001630	splice_region_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64814133G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.675-1G>T	12.37:g.64814133G>T						XPOT_uc009zqm.1_Missense_Mutation_p.R135S	p.R225S	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	8	1101	+			225			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.675G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755331	0.49362	.	.	ENSG00000184575	ENST00000332707	T	0.40476	1.03	4.89	4.89	0.63831	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043006	0.85682	D	0.000000	T	0.29288	0.0729	L	0.36672	1.1	0.80722	D	1	B	0.33694	0.421	B	0.25614	0.062	T	0.06197	-1.0840	9	.	.	.	.	12.3597	0.55197	0.0792:0.0:0.9208:0.0	.	225	O43592	XPOT_HUMAN	S	225	ENSP00000327821:R225S	.	R	+	3	2	XPOT	63100400	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.699000	0.61796	2.649000	0.89929	0.655000	0.94253	AGG		0.308	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	Missense_Mutation	39	96	1	0	5.43694e-19	0.005524	8.29986e-19	39	96				
GRIP1	23426	broad.mit.edu	37	12	66814542	66814542	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:66814542G>T	ENST00000398016.3	-	14	1708	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	GRIP1_ENST00000359742.4_Missense_Mutation_p.P599H|GRIP1_ENST00000286445.7_Missense_Mutation_p.P599H	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.P547H(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATGACGAGGGGGTCTCCTGG	0.378																																							uc001stk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1639-1641)CCC>CAC		glutamate receptor interacting protein 1							165.0	153.0	156.0					12																	66814542		1831	4089	5920	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66814542G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1640C>A	12.37:g.66814542G>T	ENSP00000381098:p.Pro547His					GRIP1_uc010sta.1_Missense_Mutation_p.P491H|GRIP1_uc001stj.2_Missense_Mutation_p.P329H|GRIP1_uc001stl.1_Missense_Mutation_p.P439H|GRIP1_uc001stm.2_Missense_Mutation_p.P547H	p.P547H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	14	1881	-			599			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1640C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.398306|3.398306	0.62177|0.62177	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|T	0.28069|0.26810	1.63;1.63;1.63;1.63;1.63;1.63|1.71	5.16|5.16	5.16|5.16	0.70880|0.70880	PDZ/DHR/GLGF (4);|.	0.050305|0.050305	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.62804|0.62804	0.2458|0.2458	M|M	0.93375|0.93375	3.41|3.41	0.53005|0.53005	D|D	0.999968|0.999968	D;P;D;D|.	0.76494|.	0.991;0.783;0.999;0.998|.	P;P;D;D|.	0.79784|.	0.884;0.695;0.993;0.989|.	T|T	0.72714|0.72714	-0.4210|-0.4210	9|7	.|.	.|.	.|.	-16.9325|-16.9325	17.3152|17.3152	0.87221|0.87221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	547;599;547;599|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	H|T	547;599;599;547;491;439|414	ENSP00000381098:P547H;ENSP00000352780:P599H;ENSP00000286445:P599H;ENSP00000446047:P547H;ENSP00000446024:P491H;ENSP00000446011:P439H|ENSP00000439053:P414T	.|.	P|P	-|-	2|1	0|0	GRIP1|GRIP1	65100809|65100809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.570000|0.570000	0.35934|0.35934	7.030000|7.030000	0.76484|0.76484	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	CCC|CCC		0.378	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			70	157	1	0	9.42754e-34	0.00361	1.55162e-33	70	157				
TRHDE	29953	broad.mit.edu	37	12	72667204	72667204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:72667204G>T	ENST00000261180.4	+	1	742	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	216					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.V216F(1)		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						GCAAACCCAGGTCTTAGTGGT	0.567																																							uc001sxa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(646-648)GTC>TTC		thyrotropin-releasing hormone degrading enzyme							62.0	61.0	61.0					12																	72667204		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.chr12:72667204G>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.646G>T	12.37:g.72667204G>T	ENSP00000261180:p.Val216Phe					LOC283392_uc010stv.1_5'UTR	p.V216F	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	676	+			216			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.646G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401580	0.42613	.	.	ENSG00000072657	ENST00000261180	T	0.02498	4.27	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.231158	0.38492	N	0.001676	T	0.01353	0.0044	N	0.01624	-0.795	0.47737	D	0.999508	B	0.22909	0.077	B	0.17098	0.017	T	0.47114	-0.9142	10	0.02654	T	1	.	17.3223	0.87239	0.0:0.0:1.0:0.0	.	216	Q9UKU6	TRHDE_HUMAN	F	216	ENSP00000261180:V216F	ENSP00000261180:V216F	V	+	1	0	TRHDE	70953471	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.874000	0.56101	2.362000	0.80069	0.514000	0.50259	GTC		0.567	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	120	1	0	2.80697e-09	0.000978	3.69072e-09	11	120				
CAPS2	84698	broad.mit.edu	37	12	75692486	75692486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:75692486C>A	ENST00000409445.3	-	12	1278	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.R129L|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.R279L|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	361							calcium ion binding (GO:0005509)	p.R129L(1)|p.R361L(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATCACCAAGTCGGTATTGTTT	0.378																																							uc001sxk.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1081-1083)CGA>CTA		calcyphosine 2							155.0	151.0	152.0					12																	75692486		2203	4299	6502	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692486C>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1082G>T	12.37:g.75692486C>A	ENSP00000386959:p.Arg361Leu					CAPS2_uc001sxm.3_Missense_Mutation_p.R129L|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Missense_Mutation_p.R97L|CAPS2_uc001sxj.3_Missense_Mutation_p.R272L|CAPS2_uc001sxl.3_Missense_Mutation_p.R342L	p.R361L	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			12	1279	-			361					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1082G>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888420	0.33348	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.22134	2.01;1.97;2.07	5.49	3.16	0.36331	.	0.697510	0.14396	N	0.322231	T	0.12518	0.0304	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.21309	0.032;0.015;0.05;0.054	B;B;B;B	0.25291	0.059;0.042;0.015;0.039	T	0.10989	-1.0606	10	0.30078	T	0.28	-1.4989	8.5155	0.33244	0.0:0.2269:0.0:0.7731	.	129;97;361;279	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	L	279;361;97;129	ENSP00000386977:R279L;ENSP00000386959:R361L;ENSP00000376963:R129L	ENSP00000367975:R97L	R	-	2	0	CAPS2	73978753	0.975000	0.34042	0.999000	0.59377	0.955000	0.61496	0.337000	0.19841	0.399000	0.25367	-0.402000	0.06365	CGA		0.378	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			25	34	1	0	4.7796e-09	0.004656	6.23255e-09	25	34				
NAV3	89795	broad.mit.edu	37	12	78444710	78444710	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:78444710G>C	ENST00000397909.2	+	11	2472	c.2299G>C	c.(2299-2301)Ggt>Cgt	p.G767R	NAV3_ENST00000266692.7_Missense_Mutation_p.G767R|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.G767R|NAV3_ENST00000536525.2_Missense_Mutation_p.G767R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	767						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G767R(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						TCCTCGCAGTGGTACCAGTCG	0.592										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.(2299-2301)GGT>CGT		neuron navigator 3							68.0	70.0	69.0					12																	78444710		2061	4201	6262	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444710G>C	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.2299G>C	12.37:g.78444710G>C	ENSP00000381007:p.Gly767Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G767R|NAV3_uc010sub.1_Missense_Mutation_p.G267R	p.G767R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2472	+			767					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2299G>C		.	.	.	.	.	.	.	.	.	.	G	12.73	2.026220	0.35701	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.79	1.23	0.21249	.	0.169719	0.27000	U	0.021430	T	0.08537	0.0212	L	0.34521	1.04	0.58432	D	0.999998	B;B;P	0.36909	0.002;0.002;0.573	B;B;B	0.28638	0.005;0.003;0.092	T	0.19516	-1.0303	10	0.66056	D	0.02	-6.1767	8.9717	0.35910	0.5265:0.0:0.4735:0.0	.	767;767;767	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	R	767	ENSP00000446132:G767R;ENSP00000381007:G767R;ENSP00000228327:G767R;ENSP00000266692:G767R	ENSP00000228327:G767R	G	+	1	0	NAV3	76968841	0.789000	0.28775	0.048000	0.18961	0.328000	0.28507	1.198000	0.32223	0.101000	0.17610	0.655000	0.94253	GGT		0.592	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	65	0	0	0	0.001368	0	12	65				
ELK3	2004	broad.mit.edu	37	12	96641401	96641401	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:96641401G>T	ENST00000228741.3	+	3	1217	c.891G>T	c.(889-891)ttG>ttT	p.L297F	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	297					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L297F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAAAGGCTTGGAAATCTCAG	0.617																																							uc001teo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)TTG>TTT		ELK3 protein							49.0	54.0	52.0					12																	96641401		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641401G>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.891G>T	12.37:g.96641401G>T	ENSP00000228741:p.Leu297Phe						p.L297F	NM_005230	NP_005221	P41970	ELK3_HUMAN			3	1170	+	all_cancers(2;0.00173)		297					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.891G>T	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373820	0.82573	.	.	ENSG00000111145	ENST00000228741	T	0.61392	0.11	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.82823	2.61	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.79845	-0.1631	10	0.87932	D	0	.	13.1048	0.59241	0.073:0.0:0.9269:0.0	.	297	P41970	ELK3_HUMAN	F	297	ENSP00000228741:L297F	ENSP00000228741:L297F	L	+	3	2	ELK3	95165532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.220000	0.51207	2.698000	0.92095	0.561000	0.74099	TTG		0.617	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		11	85	1	0	5.16669e-11	0.000978	7.16085e-11	11	85				
APAF1	317	broad.mit.edu	37	12	99074148	99074148	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:99074148A>G	ENST00000551964.1	+	14	2750	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.I672V|APAF1_ENST00000549007.1_Missense_Mutation_p.I672V|APAF1_ENST00000547045.1_Missense_Mutation_p.I672V|APAF1_ENST00000550527.1_Missense_Mutation_p.I661V|APAF1_ENST00000359972.2_Missense_Mutation_p.I661V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.I672V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.I672V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGACAGATTTATAGCAACCTG	0.373																																							uc001tfz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2014-2016)ATA>GTA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						86.0	86.0	86.0					12																	99074148		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99074148A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2014A>G	12.37:g.99074148A>G	ENSP00000448165:p.Ile672Val					APAF1_uc001tfy.2_Missense_Mutation_p.I661V|APAF1_uc001tga.2_Missense_Mutation_p.I661V|APAF1_uc001tgb.2_Missense_Mutation_p.I672V|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.I81V	p.I672V	NM_181861	NP_863651	O14727	APAF_HUMAN			14	2591	+			672			WD 2.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2014A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222352	0.58560	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.81247	0.11;0.11;0.11;-1.47;0.11;0.11;-1.47	5.49	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.244026	0.47455	N	0.000240	T	0.75817	0.3901	L	0.41632	1.29	0.80722	D	1	B;B;B;B;P	0.37370	0.023;0.004;0.004;0.001;0.592	B;B;B;B;P	0.49799	0.042;0.018;0.018;0.008;0.622	T	0.68157	-0.5483	10	0.23302	T	0.38	-17.1087	3.3792	0.07248	0.5138:0.205:0.2812:0.0	.	672;672;661;672;661	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	V	672;661;672;672;661;672;672	ENSP00000448165:I672V;ENSP00000353059:I661V;ENSP00000349862:I672V;ENSP00000341830:I672V;ENSP00000448449:I661V;ENSP00000449791:I672V;ENSP00000448161:I672V	ENSP00000341830:I672V	I	+	1	0	APAF1	97598279	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	0.916000	0.36871	0.482000	0.46254	ATA		0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		17	27	0	0	0	0.010504	0	17	27				
SLC17A8	246213	broad.mit.edu	37	12	100774686	100774686	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:100774686G>A	ENST00000323346.5	+	2	622	c.309G>A	c.(307-309)atG>atA	p.M103I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M103I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	103					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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.M103I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGTGGAAATGGTCAACAATA	0.483																																							uc010svi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(307-309)ATG>ATA		solute carrier family 17 (sodium-dependent							200.0	188.0	192.0					12																	100774686		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774686G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.309G>A	12.37:g.100774686G>A	ENSP00000316909:p.Met103Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.M103I	p.M103I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			2	622	+			103			Vesicular (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.309G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076781	0.94000	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.55052	0.54;0.54	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.983;0.999	D;D	0.71184	0.943;0.972	D	0.84219	0.0460	10	0.87932	D	0	.	18.8896	0.92392	0.0:0.0:1.0:0.0	.	103;103	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	103	ENSP00000316909:M103I;ENSP00000376715:M103I	ENSP00000316909:M103I	M	+	3	0	SLC17A8	99298817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.466000	0.83321	0.591000	0.81541	ATG		0.483	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		22	149	0	0	0	0.00333	0	22	149				
NR1H4	9971	broad.mit.edu	37	12	100928738	100928738	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:100928738C>A	ENST00000551379.1	+	4	727	c.699C>A	c.(697-699)acC>acA	p.T233T	NR1H4_ENST00000549996.1_Silent_p.T172T|NR1H4_ENST00000548884.1_Silent_p.T219T|NR1H4_ENST00000188403.7_Silent_p.T229T|NR1H4_ENST00000392986.3_Silent_p.T223T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	233					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T219T(3)|p.T233T(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CAGATCAGACCGTGAATGAAG	0.428																																							uc001tht.1		NA																	5	Substitution - coding silent(5)		lung(4)|upper_aerodigestive_tract(1)	ovary(1)|lung(1)|skin(1)	3						c.(697-699)ACC>ACA		nuclear receptor subfamily 1, group H, member 4							135.0	111.0	119.0					12																	100928738		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928738C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.699C>A	12.37:g.100928738C>A						NR1H4_uc001thp.1_Silent_p.T219T|NR1H4_uc001thq.1_Silent_p.T223T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.T223T|NR1H4_uc010svk.1_Silent_p.T172T|NR1H4_uc001ths.1_Silent_p.T229T	p.T233T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			4	727	+			233					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.699C>A	CCDS55876.1																																																																																				0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		30	56	1	0	3.11337e-16	0.002836	4.648e-16	30	56				
POLR3B	55703	broad.mit.edu	37	12	106890686	106890686	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:106890686G>A	ENST00000228347.4	+	25	3196	c.2974G>A	c.(2974-2976)Ggc>Agc	p.G992S	POLR3B_ENST00000539066.1_Missense_Mutation_p.G934S|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	992					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.G992S(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						TGTTACATCCGGCATCACAGG	0.428																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2974-2976)GGC>AGC		DNA-directed RNA polymerase III B isoform 1							172.0	140.0	151.0					12																	106890686		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.chr12:106890686G>A	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.2974G>A	12.37:g.106890686G>A	ENSP00000228347:p.Gly992Ser					POLR3B_uc001tlq.2_Missense_Mutation_p.G934S	p.G992S	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			25	3196	+			992					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2974G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441567	0.96187	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.92348	-3.02;-3.02	5.31	5.31	0.75309	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99838	1.1059	10	0.87932	D	0	-14.6584	18.9851	0.92766	0.0:0.0:1.0:0.0	.	992	Q9NW08	RPC2_HUMAN	S	992;934	ENSP00000228347:G992S;ENSP00000445721:G934S	ENSP00000228347:G992S	G	+	1	0	POLR3B	105414816	1.000000	0.71417	0.948000	0.38648	0.882000	0.50991	9.776000	0.99001	2.471000	0.83476	0.650000	0.86243	GGC		0.428	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		21	153	0	0	0	0.001882	0	21	153				
CRY1	1407	broad.mit.edu	37	12	107393382	107393382	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:107393382C>A	ENST00000008527.5	-	7	1951	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	362					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.A362S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGGAAGCAAGCAACTGCATGC	0.483																																							uc001tmi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1084-1086)GCT>TCT		cryptochrome 1 (photolyase-like)							100.0	92.0	95.0					12																	107393382		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393382C>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1084G>T	12.37:g.107393382C>A	ENSP00000008527:p.Ala362Ser						p.A362S	NM_004075	NP_004066	Q16526	CRY1_HUMAN			7	1943	-			362			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.1084G>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417572	0.96092	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84745	0.0753	9	0.56958	D	0.05	-15.9561	20.0308	0.97536	0.0:1.0:0.0:0.0	.	362	Q16526	CRY1_HUMAN	S	362	.	ENSP00000008527:A362S	A	-	1	0	CRY1	105917512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.732000	0.93576	0.585000	0.79938	GCT		0.483	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		23	85	1	0	6.12954e-19	0.004656	9.34212e-19	23	85				
BTBD11	121551	broad.mit.edu	37	12	108051444	108051444	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:108051444C>G	ENST00000280758.5	+	17	3792	c.3264C>G	c.(3262-3264)gcC>gcG	p.A1088A	BTBD11_ENST00000494235.2_Silent_p.A167A|BTBD11_ENST00000357167.4_Silent_p.A625A|BTBD11_ENST00000420571.2_Silent_p.A969A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1088						integral component of membrane (GO:0016021)		p.A1088A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGACGTTGGCCATCAGAATTC	0.512																																							uc001tmk.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(3262-3264)GCC>GCG		BTB (POZ) domain containing 11 isoform a							128.0	113.0	118.0					12																	108051444		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108051444C>G	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3264C>G	12.37:g.108051444C>G						BTBD11_uc001tml.1_Silent_p.A625A|BTBD11_uc001tmm.1_Silent_p.A167A	p.A1088A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			17	3785	+			1088					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.3264C>G	CCDS31893.1																																																																																				0.512	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		5	111	0	0	0	0.001168	0	5	111				
ACACB	32	broad.mit.edu	37	12	109637270	109637270	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:109637270G>T	ENST00000338432.7	+	18	2810	c.2691G>T	c.(2689-2691)ctG>ctT	p.L897L	ACACB_ENST00000377854.5_Silent_p.L897L|ACACB_ENST00000377848.3_Silent_p.L897L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	897	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L897L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTACAGTCCTGAGATCCCCCT	0.562																																							uc001tob.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2689-2691)CTG>CTT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						134.0	126.0	129.0					12																	109637270		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109637270G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2691G>T	12.37:g.109637270G>T						ACACB_uc001toc.2_Silent_p.L897L	p.L897L	NM_001093	NP_001084	O00763	ACACB_HUMAN			18	2810	+			897			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2691G>T	CCDS31898.1																																																																																				0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	118	1	0	0.00244969	0.00245	0.00263301	10	118				
HECTD4	283450	broad.mit.edu	37	12	112665893	112665893	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:112665893C>A	ENST00000430131.2	-	42	6733	c.5588G>T	c.(5587-5589)aGa>aTa	p.R1863I	HECTD4_ENST00000550722.1_Splice_Site_p.R2139I|HECTD4_ENST00000377560.5_Splice_Site_p.R2113I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1863					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1863I(1)|p.R2113I(1)									GGGTACTCACCTTGTCCTTAT	0.532																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(5587-5589)AGA>ATA		chromosome 12 open reading frame 51							115.0	112.0	113.0					12																	112665893		1990	4164	6154	SO:0001630	splice_region_variant	283450							g.chr12:112665893C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5588+1G>T	12.37:g.112665893C>A						C12orf51_uc001ttr.1_Missense_Mutation_p.R38I	p.R1863I	NM_001109662	NP_001103132					36	5606	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5588G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.804033|4.804033	0.90623|0.90623	.|.	.|.	ENSG00000173064|ENSG00000173064	ENST00000550968|ENST00000377560;ENST00000430131;ENST00000550722	.|T;T;T	.|0.66995	.|-0.23;-0.21;-0.24	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71195	.|0.3311	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.66497	.|0.944	.|T	.|0.68401	.|-0.5418	.|8	.|.	.|.	.|.	.|.	18.9739|18.9739	0.92728|0.92728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1863	.|Q9Y4D8	.|K0614_HUMAN	X|I	30|2113;1863;2139	.|ENSP00000366783:R2113I;ENSP00000404379:R1863I;ENSP00000449784:R2139I	.|.	E|R	-|-	1|2	0|0	C12orf51|C12orf51	111150276|111150276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.429000|7.429000	0.80309|0.80309	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.532	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Missense_Mutation	44	88	1	0	1.51926e-22	0.00361	2.40443e-22	44	88				
NCOR2	9612	broad.mit.edu	37	12	124862883	124862883	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:124862883C>A	ENST00000405201.1	-	18	2067	c.2067G>T	c.(2065-2067)gcG>gcT	p.A689A	NCOR2_ENST00000397355.1_Silent_p.A689A|NCOR2_ENST00000429285.2_Silent_p.A688A|NCOR2_ENST00000356219.3_Silent_p.A689A|NCOR2_ENST00000404121.2_Silent_p.A259A|NCOR2_ENST00000404621.1_Silent_p.A688A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	689					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.A689A(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCGCTGGCCGCCGCCGGCG	0.657																																							uc010tba.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(2065-2067)GCG>GCT		nuclear receptor co-repressor 2 isoform 2							41.0	50.0	47.0					12																	124862883		2009	4156	6165	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124862883C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2067G>T	12.37:g.124862883C>A						NCOR2_uc010tay.1_Silent_p.A689A|NCOR2_uc010taz.1_Silent_p.A689A|NCOR2_uc010tbb.1_Silent_p.A689A|NCOR2_uc010tbc.1_Silent_p.A688A|NCOR2_uc001ugj.1_Silent_p.A689A	p.A689A	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	18	2184	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		689					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2067G>T	CCDS41858.2																																																																																				0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		7	30	1	0	0.00621372	0.006214	0.00658168	7	30				
TMEM132D	121256	broad.mit.edu	37	12	129559152	129559152	+	Silent	SNP	C	C	G	rs200137658		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:129559152C>G	ENST00000422113.2	-	9	2894	c.2568G>C	c.(2566-2568)acG>acC	p.T856T	TMEM132D_ENST00000389441.4_Silent_p.T394T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	856					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T856T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTGTCTGTCGTGGTGCCCC	0.552																																							uc009zyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2566-2568)ACG>ACC		transmembrane protein 132D precursor							97.0	96.0	96.0					12																	129559152		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129559152C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2568G>C	12.37:g.129559152C>G						TMEM132D_uc001uia.2_Silent_p.T394T	p.T856T	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2896	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	856			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.2568G>C	CCDS9266.1																																																																																				0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	84	0	0	0	0.008291	0	10	84				
CHFR	55743	broad.mit.edu	37	12	133447364	133447364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:133447364C>A	ENST00000432561.2	-	5	422	c.349G>T	c.(349-351)Gca>Tca	p.A117S	CHFR_ENST00000450056.2_Missense_Mutation_p.A117S|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.A117S|CHFR_ENST00000266880.7_Missense_Mutation_p.A117S			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	117					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A117S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TAGAGGTATGCCACGTCTAAA	0.388																																							uc001ulf.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(349-351)GCA>TCA		checkpoint with forkhead and ring finger domains							194.0	172.0	180.0					12																	133447364		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133447364C>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.349G>T	12.37:g.133447364C>A	ENSP00000392395:p.Ala117Ser					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A117S|CHFR_uc010tbs.1_Missense_Mutation_p.A117S|CHFR_uc001uld.2_Missense_Mutation_p.A117S|CHFR_uc010tbt.1_Intron	p.A117S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	5	433	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	117					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.349G>T	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682700	0.88542	.	.	ENSG00000072609	ENST00000315585;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	T;T;T;T	0.20598	2.36;2.3;2.06;2.33	5.64	5.64	0.86602	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.63843	1.955	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;0.997;0.999;0.999	T	0.08411	-1.0723	10	0.33940	T	0.23	-25.7666	17.4931	0.87710	0.0:1.0:0.0:0.0	.	117;117;117;117	Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;CHFR_HUMAN;.;.	S	117	ENSP00000320557:A117S;ENSP00000398735:A117S;ENSP00000266880:A117S;ENSP00000392395:A117S	ENSP00000266880:A117S	A	-	1	0	CHFR	131957437	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.965000	0.63708	2.661000	0.90470	0.561000	0.74099	GCA		0.388	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			13	118	1	0	1.5842e-08	0.001855	2.04052e-08	13	118				
SHISA2	387914	broad.mit.edu	37	13	26620787	26620787	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:26620787G>A	ENST00000319420.3	-	2	807	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	251					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.T251M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GTGCTGCACCGTGTACCCCAC	0.577																																							uc001uqm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(751-753)ACG>ATG		shisa homolog 2 precursor							141.0	113.0	122.0					13																	26620787		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620787G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.752C>T	13.37:g.26620787G>A	ENSP00000313079:p.Thr251Met						p.T251M	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			2	837	-			251			Cytoplasmic (Potential).		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.752C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010766	0.75046	.	.	ENSG00000180730	ENST00000319420	T	0.46819	0.86	5.73	5.73	0.89815	.	0.445830	0.24339	N	0.039384	T	0.33411	0.0862	N	0.08118	0	0.33516	D	0.59179	P	0.35174	0.488	B	0.33690	0.168	T	0.49943	-0.8885	10	0.62326	D	0.03	-14.9381	19.9084	0.97016	0.0:0.0:1.0:0.0	.	251	Q6UWI4	SHSA2_HUMAN	M	251	ENSP00000313079:T251M	ENSP00000313079:T251M	T	-	2	0	SHISA2	25518787	1.000000	0.71417	0.280000	0.24747	0.619000	0.37552	9.476000	0.97823	2.711000	0.92665	0.650000	0.86243	ACG		0.577	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		38	40	0	0	0	0.007835	0	38	40				
DLEU1	10301	broad.mit.edu	37	13	50746537	50746537	+	Intron	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:50746537G>T	ENST00000490577.1	+	2	1637							O43261	LEU1_HUMAN	deleted in lymphocytic leukemia 1 (non-protein coding)																		GATAACAGAGGAGGTGATGGA	0.408																																							uc001vej.2		NA																	0					0						c.(313-315)GAG>TAG		SubName: Full=ST13 protein;																																				SO:0001627	intron_variant	145165							g.chr13:50746537G>T	Y15227		13q14.3	2014-07-18	2008-08-13		ENSG00000176124	ENSG00000176124		"""-"""	13747	non-coding RNA	RNA, long non-coding	"""B-cell neoplasia-associated gene with multiple splicing"", ""non-protein coding RNA 21"", ""long intergenic non-protein coding RNA 21"""	605765	"""deleted in lymphocytic leukemia, 1"""	DLB1, BCMS		9395242, 11406609	Standard	NR_109973		Approved	LEU1, XTP6, NCRNA00021, LINC00021, BCMS1		O43261	OTTHUMG00000016934	ENST00000490577.1:c.1637+14325G>T	13.37:g.50746537G>T						DLEU1_uc010adl.1_Intron|DLEU1_uc001vee.1_Intron|DLEU1_uc010adm.1_Intron|DLEU1_uc010adn.1_Intron|DLEU1_uc001vef.1_Intron|DLEU1_uc001veg.1_Intron|DLEU1_uc010tgn.1_Intron|DLEU1_uc001vei.1_Intron|DLEU1_uc010ado.1_Intron|DLEU1_uc010adp.1_Intron	p.E105*	NR_002183						1	384	+								Q547G6|Q8TE10|Q96QY5	Nonsense_Mutation	SNP	ENST00000490577.1	37	c.313G>T																																																																																					0.408	DLEU1-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000044972.1	NR_002605		16	27	1	0	3.62473e-10	0.001882	4.91595e-10	16	27				
NEK3	4752	broad.mit.edu	37	13	52709865	52709865	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:52709865C>A	ENST00000400357.2	-	12	2551	c.1258G>T	c.(1258-1260)Ggt>Tgt	p.G420C	NEK3_ENST00000378101.2_Splice_Site_p.G437C|NEK3_ENST00000339406.3_Splice_Site_p.G437C|NEK3_ENST00000452082.2_Splice_Site_p.G441C			P51956	NEK3_HUMAN	NIMA-related kinase 3	437					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G437C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGAATTACCTGGTCTATAT	0.353																																							uc001vgi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(1309-1311)GGT>TGT		NIMA-related kinase 3 isoform a							91.0	81.0	84.0					13																	52709865		1828	4083	5911	SO:0001630	splice_region_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52709865C>A	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1258+1G>T	13.37:g.52709865C>A						NEK3_uc001vgg.2_Missense_Mutation_p.G414C|NEK3_uc001vgh.2_Missense_Mutation_p.G441C|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.G420C	p.G437C	NM_152720	NP_689933	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	16	1544	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	437					A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	c.1309G>T	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827645	0.50845	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.21	4.37	0.52481	.	0.316691	0.33023	N	0.005374	T	0.53530	0.1802	M	0.67953	2.075	0.37065	D	0.89824	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.69142	0.907;0.917;0.962	T	0.60525	-0.7246	9	.	.	.	.	10.3334	0.43835	0.0:0.8489:0.0:0.1511	.	437;441;414	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	C	437;437;420;441;414	ENSP00000339429:G437C;ENSP00000367341:G437C;ENSP00000383210:G420C;ENSP00000404197:G441C;ENSP00000448716:G414C	.	G	-	1	0	NEK3	51607866	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	3.555000	0.53727	1.315000	0.45114	-0.140000	0.14226	GGT		0.353	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		Missense_Mutation	7	30	1	0	2.0095e-06	0.001984	2.40531e-06	7	30				
PCDH17	27253	broad.mit.edu	37	13	58207531	58207531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:58207531G>T	ENST00000377918.3	+	1	877	c.851G>T	c.(850-852)aGc>aTc	p.S284I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	284	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.S284I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTTTCAGCAGCTACGTGCCT	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(850-852)AGC>ATC		protocadherin 17 precursor							60.0	55.0	56.0					13																	58207531		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207531G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.851G>T	13.37:g.58207531G>T	ENSP00000367151:p.Ser284Ile					PCDH17_uc010aec.1_Missense_Mutation_p.S284I	p.S284I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1743	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	284			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.851G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708067	0.68615	.	.	ENSG00000118946	ENST00000377918	T	0.54866	0.55	4.73	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.092384	0.85682	D	0.000000	T	0.58963	0.2159	L	0.55017	1.72	0.47407	D	0.999416	P;P	0.41498	0.708;0.752	P;P	0.48141	0.568;0.477	T	0.57183	-0.7855	9	.	.	.	.	17.8954	0.88886	0.0:0.0:1.0:0.0	.	284;284	O14917-2;O14917	.;PCD17_HUMAN	I	284	ENSP00000367151:S284I	.	S	+	2	0	PCDH17	57105532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.470000	0.83445	0.650000	0.86243	AGC		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	58	1	0	0.000157383	0.00308	0.000176986	8	58				
ABCC4	10257	broad.mit.edu	37	13	95829973	95829973	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:95829973T>A	ENST00000376887.4	-	13	1829	c.1715A>T	c.(1714-1716)cAc>cTc	p.H572L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.H572L|ABCC4_ENST00000536256.1_Missense_Mutation_p.H497L|ABCC4_ENST00000431522.1_Missense_Mutation_p.H572L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	572	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.H572L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCGAACAAGTGTCTGCTAAC	0.443																																							uc001vmd.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|skin(1)	4						c.(1714-1716)CAC>CTC		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						152.0	131.0	138.0					13																	95829973		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95829973T>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1715A>T	13.37:g.95829973T>A	ENSP00000366084:p.His572Leu					ABCC4_uc010afk.2_Missense_Mutation_p.H572L|ABCC4_uc001vme.2_Missense_Mutation_p.H572L|ABCC4_uc010tih.1_Missense_Mutation_p.H497L|ABCC4_uc001vmf.2_Missense_Mutation_p.H529L|ABCC4_uc010afl.1_Missense_Mutation_p.H529L|ABCC4_uc010afm.1_Missense_Mutation_p.H585L	p.H572L	NM_005845	NP_005836	O15439	MRP4_HUMAN			13	1834	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		572			ABC transporter 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1715A>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444547	0.43429	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.88509	-2.39;-2.39;-1.74;-2.39	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	L	0.41710	1.295	0.80722	D	1	B;B;B;B;B	0.32781	0.384;0.023;0.064;0.054;0.2	B;B;B;B;B	0.37422	0.249;0.03;0.149;0.046;0.167	D	0.87008	0.2121	10	0.72032	D	0.01	.	15.7275	0.77774	0.0:0.0:0.0:1.0	.	497;572;572;572;572	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	L	572;572;497;572	ENSP00000388657:H572L;ENSP00000366084:H572L;ENSP00000442024:H497L;ENSP00000398562:H572L	ENSP00000366084:H572L	H	-	2	0	ABCC4	94627974	1.000000	0.71417	0.997000	0.53966	0.234000	0.25298	7.538000	0.82048	2.164000	0.68074	0.533000	0.62120	CAC		0.443	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		13	37	0	0	0	0.001855	0	13	37				
DZIP1	22873	broad.mit.edu	37	13	96293708	96293708	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:96293708C>T	ENST00000376829.2	-	5	1289	c.438G>A	c.(436-438)gaG>gaA	p.E146E	DZIP1_ENST00000361156.3_Silent_p.E146E|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000347108.3_Silent_p.E146E|DZIP1_ENST00000361396.2_Silent_p.E146E	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	146					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E146E(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCAGCCGCTCCTCCAGGGTGT	0.617																																							uc001vmk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(436-438)GAG>GAA		DAZ interacting protein 1 isoform 2							54.0	42.0	46.0					13																	96293708		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293708C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.438G>A	13.37:g.96293708C>T						DZIP1_uc001vml.2_Silent_p.E146E|DZIP1_uc001vmn.2_Silent_p.E135E	p.E146E	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		5	1290	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		146					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.438G>A	CCDS9478.1																																																																																				0.617	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		10	22	0	0	0	0.008291	0	10	22				
NALCN	259232	broad.mit.edu	37	13	101710333	101710333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:101710333C>A	ENST00000251127.6	-	43	5062	c.4981G>T	c.(4981-4983)Ggg>Tgg	p.G1661W	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1661					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.G1661W(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)					TGGGGTTTCCCTGCGTCGGCT	0.567																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4981-4983)GGG>TGG		voltage gated channel like 1							83.0	83.0	83.0					13																	101710333		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101710333C>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.4981G>T	13.37:g.101710333C>A	ENSP00000251127:p.Gly1661Trp						p.G1661W	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			43	5170	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1661			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4981G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892863	0.72524	.	.	ENSG00000102452	ENST00000251127	D	0.97959	-4.63	5.29	5.29	0.74685	.	0.050554	0.85682	D	0.000000	D	0.96269	0.8783	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.58721	0.844	D	0.98003	1.0361	10	0.72032	D	0.01	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	1661	Q8IZF0	NALCN_HUMAN	W	1661	ENSP00000251127:G1661W	ENSP00000251127:G1661W	G	-	1	0	NALCN	100508334	1.000000	0.71417	0.521000	0.27850	0.288000	0.27193	7.023000	0.76437	2.455000	0.83008	0.655000	0.94253	GGG		0.567	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		19	61	1	0	8.00594e-06	0.007413	9.4516e-06	19	61				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																							uc001vwc.3		NA																	0					0						c.(922-924)GTT>GCT		prostate-specific P704P							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					P704P_uc001vwb.3_RNA|uc001vwd.2_RNA	p.V308A	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			5	975	-			308			ANK 5.			Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	116	0	0	0	0.004672	0	3	116				
OR4Q3	441669	broad.mit.edu	37	14	20216282	20216282	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20216282G>A	ENST00000331723.1	+	1	696	c.696G>A	c.(694-696)caG>caA	p.Q232Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q232Q(1)|p.Q232H(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)		ACTTCTGCCAGGGCCAGAACA	0.488																																							uc010tkt.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	breast(3)	3						c.(694-696)CAG>CAA		olfactory receptor, family 4, subfamily Q,							158.0	141.0	147.0					14																	20216282		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216282G>A	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.696G>A	14.37:g.20216282G>A							p.Q232Q	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	696	+	all_cancers(95;0.00108)		232			Cytoplasmic (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.696G>A	CCDS32020.1																																																																																				0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			19	202	0	0	0	0.008871	0	19	202				
OR4K1	79544	broad.mit.edu	37	14	20403987	20403987	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20403987T>C	ENST00000285600.4	+	1	221	c.162T>C	c.(160-162)caT>caC	p.H54H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H54H(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)		TTGACTCCCATTTGAACTCTC	0.363																																							uc001vwj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(160-162)CAT>CAC		olfactory receptor, family 4, subfamily K,							310.0	327.0	321.0					14																	20403987		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403987T>C		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.162T>C	14.37:g.20403987T>C							p.H54H	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	162	+	all_cancers(95;0.00108)		54			Cytoplasmic (Potential).		B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.162T>C	CCDS32025.1																																																																																				0.363	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			34	428	0	0	0	0.002836	0	34	428				
OR4N5	390437	broad.mit.edu	37	14	20612039	20612039	+	Missense_Mutation	SNP	A	A	T	rs557896955	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20612039A>T	ENST00000333629.1	+	1	145	c.145A>T	c.(145-147)Ata>Tta	p.I49L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I49L(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CATTTTCACCATAAAGTCAGA	0.463																																							uc010tla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)ATA>TTA		olfactory receptor, family 4, subfamily N,							206.0	209.0	208.0					14																	20612039		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612039A>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.145A>T	14.37:g.20612039A>T	ENSP00000332110:p.Ile49Leu						p.I49L	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	145	+	all_cancers(95;0.00108)		49			Helical; Name=1; (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.145A>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	.	9.204	1.029163	0.19512	.	.	ENSG00000184394	ENST00000333629	T	0.07216	3.21	3.99	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000493	T	0.11793	0.0287	M	0.77313	2.365	0.09310	N	0.999999	P	0.41080	0.737	B	0.39771	0.309	T	0.14090	-1.0485	10	0.87932	D	0	.	7.3264	0.26557	0.8898:0.0:0.1102:0.0	.	49	Q8IXE1	OR4N5_HUMAN	L	49	ENSP00000332110:I49L	ENSP00000332110:I49L	I	+	1	0	OR4N5	19681879	0.019000	0.18553	0.932000	0.37286	0.263000	0.26337	0.679000	0.25291	1.797000	0.52628	0.528000	0.53228	ATA		0.463	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			111	250	0	0	0	0.00361	0	111	250				
OR4N5	390437	broad.mit.edu	37	14	20612550	20612550	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20612550C>A	ENST00000333629.1	+	1	656	c.656C>A	c.(655-657)gCa>gAa	p.A219E	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A219E(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTCCTATGCAGTCATCCTC	0.502																																							uc010tla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)GCA>GAA		olfactory receptor, family 4, subfamily N,							105.0	95.0	98.0					14																	20612550		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612550C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.656C>A	14.37:g.20612550C>A	ENSP00000332110:p.Ala219Glu						p.A219E	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	656	+	all_cancers(95;0.00108)		219			Helical; Name=5; (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.656C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681203	0.47886	.	.	ENSG00000184394	ENST00000333629	T	0.00193	8.58	3.88	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.766142	0.11077	N	0.602269	T	0.00524	0.0017	M	0.91818	3.245	0.09310	N	1	P	0.45011	0.848	P	0.54401	0.751	T	0.33979	-0.9847	10	0.72032	D	0.01	.	6.2485	0.20832	0.0:0.772:0.0:0.228	.	219	Q8IXE1	OR4N5_HUMAN	E	219	ENSP00000332110:A219E	ENSP00000332110:A219E	A	+	2	0	OR4N5	19682390	0.000000	0.05858	0.790000	0.31976	0.877000	0.50540	-0.019000	0.12546	0.979000	0.38497	0.655000	0.94253	GCA		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			7	156	1	0	2.0095e-06	0.001984	2.40531e-06	7	156				
OR11G2	390439	broad.mit.edu	37	14	20665955	20665955	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20665955C>A	ENST00000357366.3	+	1	461	c.461C>A	c.(460-462)gCa>gAa	p.A154E		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A154E(1)		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)		TTTTTCCTGGCAGTTATGGCA	0.478																																							uc010tlb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(460-462)GCA>GAA		olfactory receptor, family 11, subfamily G,							79.0	73.0	75.0					14																	20665955		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665955C>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.461C>A	14.37:g.20665955C>A	ENSP00000349930:p.Ala154Glu						p.A154E	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	461	+	all_cancers(95;0.00108)		154			Helical; Name=3; (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.461C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	18.76	3.692992	0.68271	.	.	ENSG00000196832	ENST00000357366	T	0.02050	4.48	4.93	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.656984	0.13245	N	0.402576	T	0.10208	0.0250	M	0.91663	3.23	0.25174	N	0.990255	D	0.56287	0.975	P	0.52598	0.703	T	0.06092	-1.0846	10	0.87932	D	0	.	9.7106	0.40243	0.0:0.6604:0.263:0.0766	.	154	Q8NGC1	O11G2_HUMAN	E	154	ENSP00000349930:A154E	ENSP00000349930:A154E	A	+	2	0	OR11G2	19735795	0.077000	0.21312	0.946000	0.38457	0.967000	0.64934	3.064000	0.49986	0.643000	0.30638	-0.172000	0.13284	GCA		0.478	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			16	50	1	0	1.15088e-07	0.004007	1.42432e-07	16	50				
TEP1	7011	broad.mit.edu	37	14	20852618	20852618	+	Missense_Mutation	SNP	C	C	A	rs147687706		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20852618C>A	ENST00000262715.5	-	23	3311	c.3271G>T	c.(3271-3273)Ggg>Tgg	p.G1091W	TEP1_ENST00000556935.1_Missense_Mutation_p.G983W|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1091					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G1091W(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCTCCAGCCCGCCAACATAG	0.592																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3271-3273)GGG>TGG		telomerase-associated protein 1							120.0	137.0	132.0					14																	20852618		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852618C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3271G>T	14.37:g.20852618C>A	ENSP00000262715:p.Gly1091Trp					TEP1_uc010ahk.2_Missense_Mutation_p.G441W|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G983W|TEP1_uc010tlh.1_5'Flank	p.G1091W	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3311	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1091					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.3271G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697050	0.48202	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.18502	2.21;2.21	5.21	5.21	0.72293	.	0.302397	0.36893	N	0.002353	T	0.42426	0.1202	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.992;0.996;0.979	T	0.38564	-0.9655	10	0.87932	D	0	-8.2622	11.0904	0.48113	0.0:0.9133:0.0:0.0867	.	983;441;1091	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	W	1091;1091;983	ENSP00000262715:G1091W;ENSP00000452574:G983W	ENSP00000262715:G1091W	G	-	1	0	TEP1	19922458	0.489000	0.26004	0.995000	0.50966	0.704000	0.40688	1.706000	0.37878	2.434000	0.82447	0.462000	0.41574	GGG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		8	237	1	0	0.00621372	0.006214	0.00658168	8	237				
RNASE11	122651	broad.mit.edu	37	14	21052309	21052309	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:21052309C>G	ENST00000610205.1	-	3	508	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	RNASE11_ENST00000555841.1_Missense_Mutation_p.E109Q|RNASE11_ENST00000398008.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000553849.1_Missense_Mutation_p.E109Q|RNASE11_ENST00000398009.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000432835.2_Missense_Mutation_p.E109Q	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	109						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.E109Q(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CCGTTTGCTTCTGAAACTTTT	0.468																																							uc010ahv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(325-327)GAA>CAA		ribonuclease, RNase A family, 11 (non-active)							127.0	110.0	116.0					14																	21052309		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052309C>G	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.325G>C	14.37:g.21052309C>G	ENSP00000476537:p.Glu109Gln					RNASE11_uc010ahx.2_Missense_Mutation_p.E109Q|RNASE11_uc010ahw.2_Missense_Mutation_p.E109Q|RNASE11_uc001vxs.2_Missense_Mutation_p.E109Q	p.E109Q	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	510	-	all_cancers(95;0.00238)	all_lung(585;0.235)	109						Missense_Mutation	SNP	ENST00000610205.1	37	c.325G>C	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307100	0.60305	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	3.94	3.05	0.35203	Ribonuclease A, domain (3);	1.249540	0.05729	N	0.599332	T	0.71341	0.3328	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.61533	0.89	T	0.59478	-0.7447	10	0.38643	T	0.18	-20.3768	7.5637	0.27866	0.0:0.8831:0.0:0.1169	.	109	Q8TAA1	RNS11_HUMAN	Q	109	ENSP00000338288:E109Q;ENSP00000451318:E109Q;ENSP00000451563:E109Q;ENSP00000381093:E109Q;ENSP00000381092:E109Q;ENSP00000395210:E109Q;ENSP00000401398:E109Q;ENSP00000451839:E109Q;ENSP00000452412:E109Q;ENSP00000415954:E109Q;ENSP00000451466:E109Q	ENSP00000338288:E109Q	E	-	1	0	RNASE11	20122149	0.467000	0.25831	0.080000	0.20451	0.447000	0.32167	1.498000	0.35660	1.235000	0.43724	0.511000	0.50034	GAA		0.468	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		24	149	0	0	0	0.00278	0	24	149				
RNASE11	122651	broad.mit.edu	37	14	21052324	21052324	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:21052324A>T	ENST00000610205.1	-	3	493	c.310T>A	c.(310-312)Tgg>Agg	p.W104R	RNASE11_ENST00000555841.1_Missense_Mutation_p.W104R|RNASE11_ENST00000398008.2_Missense_Mutation_p.W104R|RNASE11_ENST00000553849.1_Missense_Mutation_p.W104R|RNASE11_ENST00000398009.2_Missense_Mutation_p.W104R|RNASE11_ENST00000432835.2_Missense_Mutation_p.W104R	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	104						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.W104R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACTTTTCTCCAGACTGTCATG	0.468																																							uc010ahv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(310-312)TGG>AGG		ribonuclease, RNase A family, 11 (non-active)							139.0	123.0	129.0					14																	21052324		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052324A>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.310T>A	14.37:g.21052324A>T	ENSP00000476537:p.Trp104Arg					RNASE11_uc010ahx.2_Missense_Mutation_p.W104R|RNASE11_uc010ahw.2_Missense_Mutation_p.W104R|RNASE11_uc001vxs.2_Missense_Mutation_p.W104R	p.W104R	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	495	-	all_cancers(95;0.00238)	all_lung(585;0.235)	104						Missense_Mutation	SNP	ENST00000610205.1	37	c.310T>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668051	0.67814	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	3.79	3.79	0.43588	Ribonuclease A, domain (3);	0.455245	0.20846	N	0.084610	T	0.67636	0.2914	L	0.27053	0.805	0.32048	N	0.5973	D	0.89917	1.0	D	0.72982	0.979	T	0.63070	-0.6719	10	0.06099	T	0.92	-14.8172	9.2011	0.37258	1.0:0.0:0.0:0.0	.	104	Q8TAA1	RNS11_HUMAN	R	104	ENSP00000338288:W104R;ENSP00000451318:W104R;ENSP00000451563:W104R;ENSP00000381093:W104R;ENSP00000381092:W104R;ENSP00000395210:W104R;ENSP00000401398:W104R;ENSP00000451839:W104R;ENSP00000452412:W104R;ENSP00000415954:W104R;ENSP00000451466:W104R	ENSP00000338288:W104R	W	-	1	0	RNASE11	20122164	0.522000	0.26266	0.748000	0.31131	0.444000	0.32077	1.875000	0.39578	1.945000	0.56424	0.418000	0.28097	TGG		0.468	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		29	177	0	0	0	0.009535	0	29	177				
TRAC	28755	broad.mit.edu	37	14	23019583	23019583	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23019583G>T	ENST00000478163.3	+	0	401							P01848	TCA_HUMAN	T cell receptor alpha constant						regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATCTGCTCATGACGCTGCGGC	0.542																																							uc001wbw.2		NA																	0					NA						c.(805-807)ATG>ATT		SubName: Full=Alpha-chain C region; Flags: Fragment;							91.0	93.0	92.0					14																	23019583		2007	4190	6197			0							g.chr14:23019583G>T	X02592		14q11.2	2012-02-07			ENSG00000229164	ENSG00000277734		"""T cell receptors / TRA locus"""	12029	other	T cell receptor gene		186880				3875483, 8188290	Standard	NG_001332		Approved			P01848	OTTHUMG00000028683		14.37:g.23019583G>T						uc001wcx.3_RNA|uc001wdv.3_Missense_Mutation_p.M195I|uc001wec.2_Missense_Mutation_p.M154I|uc001wee.3_Missense_Mutation_p.M83I|uc001weg.2_Missense_Mutation_p.M83I|uc001wei.2_Missense_Mutation_p.M83I|uc001wej.2_Missense_Mutation_p.M83I|uc001wek.2_Missense_Mutation_p.M140I|uc001wel.2_Missense_Mutation_p.M83I|uc001wem.3_Missense_Mutation_p.M83I|uc001weo.2_Missense_Mutation_p.M83I|uc001wep.2_Missense_Mutation_p.M83I|uc001weq.2_Missense_Mutation_p.M147I|uc001wer.2_RNA|uc001wet.2_Missense_Mutation_p.M83I|uc001weu.2_Missense_Mutation_p.M83I|uc001wev.2_Missense_Mutation_p.M148I|uc001wew.2_Missense_Mutation_p.M83I|uc010ajx.1_Missense_Mutation_p.M83I|uc001wfd.1_Missense_Mutation_p.M83I|uc001wfe.2_Missense_Mutation_p.M155I|uc001wfh.1_Missense_Mutation_p.M146I|uc001wfk.2_Missense_Mutation_p.M83I|uc010ajy.1_Missense_Mutation_p.M83I|uc001wfn.2_Missense_Mutation_p.M83I|uc001wfp.2_Missense_Mutation_p.M83I|uc001wfw.1_Missense_Mutation_p.M83I|uc001wfx.2_Missense_Mutation_p.M83I|uc001wgd.2_Missense_Mutation_p.M140I|uc001wge.3_Missense_Mutation_p.M83I|uc010tmw.1_Missense_Mutation_p.M83I|uc010tmx.1_Missense_Mutation_p.M83I|uc001wgh.2_Missense_Mutation_p.M83I|uc001wgj.1_Missense_Mutation_p.M83I|uc001wgk.2_Missense_Mutation_p.M83I	p.M269I							6	816	+									Missense_Mutation	SNP	ENST00000478163.3	37	c.807G>T																																																																																					0.542	TRAC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf	TR_C_gene	TR_C_gene	OTTHUMT00000071613.3	NG_001332		4	66	1	0	0.00024832	0.009096	0.000278259	4	66				
CEBPE	1053	broad.mit.edu	37	14	23586879	23586879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23586879G>T	ENST00000206513.5	-	2	1187	c.663C>A	c.(661-663)agC>agA	p.S221R		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	221	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S221R(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CCTTGTCTCGGCTCTTGCGCA	0.627																																					NSCLC(63;1230 1818 14565 22565)	NSCLC(63;1230 1818 14565 22565)	uc001wiv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(661-663)AGC>AGA		CCAAT/enhancer binding protein epsilon							80.0	70.0	74.0					14																	23586879		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586879G>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.663C>A	14.37:g.23586879G>T	ENSP00000206513:p.Ser221Arg						p.S221R	NM_001805	NP_001796	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	837	-	all_cancers(95;4.6e-05)		221			Basic motif.		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.663C>A	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842684	0.71488	.	.	ENSG00000092067	ENST00000206513	T	0.58652	0.32	5.2	4.31	0.51392	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.96048	3.76	0.53005	D	0.999963	D	0.76494	0.999	D	0.87578	0.998	D	0.87040	0.2140	10	0.87932	D	0	-30.4709	12.6139	0.56565	0.082:0.0:0.918:0.0	.	221	Q15744	CEBPE_HUMAN	R	221	ENSP00000206513:S221R	ENSP00000206513:S221R	S	-	3	2	CEBPE	22656719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.696000	0.61774	1.188000	0.43014	0.655000	0.94253	AGC		0.627	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		14	69	1	0	4.93089e-13	0.00245	7.0933e-13	14	69				
MYH7	4625	broad.mit.edu	37	14	23900116	23900116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23900116G>T	ENST00000355349.3	-	10	1051	c.889C>A	c.(889-891)Ctg>Atg	p.L297M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	297	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L297M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCACCCAGCAGCTCAGGCTTT	0.488																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(889-891)CTG>ATG		myosin, heavy chain 7, cardiac muscle, beta							127.0	137.0	134.0					14																	23900116		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900116G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.889C>A	14.37:g.23900116G>T	ENSP00000347507:p.Leu297Met						p.L297M	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	10	995	-	all_cancers(95;2.54e-05)		297			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.889C>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009564	0.35415	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87887	-2.31	3.63	1.79	0.24919	Myosin head, motor domain (2);	.	.	.	.	D	0.92195	0.7525	M	0.79123	2.44	0.53688	D	0.999972	P	0.39071	0.658	D	0.63793	0.918	D	0.90304	0.4332	9	0.66056	D	0.02	.	9.1897	0.37191	0.1805:0.0:0.8195:0.0	.	297	P12883	MYH7_HUMAN	M	297	ENSP00000347507:L297M	ENSP00000347507:L297M	L	-	1	2	MYH7	22969956	1.000000	0.71417	0.997000	0.53966	0.417000	0.31264	2.987000	0.49378	0.243000	0.21327	-0.657000	0.03884	CTG		0.488	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		31	199	1	0	3.57733e-08	0.009535	4.54599e-08	31	199				
FSCB	84075	broad.mit.edu	37	14	44974853	44974853	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:44974853C>T	ENST00000340446.4	-	1	1629	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	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	446						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.M446I(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)		CAGGGGTCTCCATAGCTGTTG	0.493																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1336-1338)ATG>ATA		fibrous sheath CABYR binding protein							22.0	23.0	23.0					14																	44974853		2185	4296	6481	SO:0001583	missense	84075					cilium		g.chr14:44974853C>T	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.1338G>A	14.37:g.44974853C>T	ENSP00000344579:p.Met446Ile						p.M446I	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1647	-			446					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1338G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398721	0.11696	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.11821	2.74	3.25	-1.5	0.08691	.	.	.	.	.	T	0.06781	0.0173	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.38436	-0.9661	9	0.39692	T	0.17	8.6457	0.5188	0.00608	0.1786:0.3015:0.1752:0.3447	.	446	Q5H9T9	FSCB_HUMAN	I	446	ENSP00000344579:M446I	ENSP00000344579:M446I	M	-	3	0	FSCB	44044603	0.996000	0.38824	0.000000	0.03702	0.029000	0.11900	0.432000	0.21461	-0.094000	0.12374	-0.335000	0.08231	ATG		0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		13	25	0	0	0	0.001855	0	13	25				
C14orf37	145407	broad.mit.edu	37	14	58604955	58604955	+	Silent	SNP	T	T	G	rs199966245		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:58604955T>G	ENST00000267485.7	-	2	1316	c.1122A>C	c.(1120-1122)acA>acC	p.T374T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	374						integral component of membrane (GO:0016021)		p.T374T(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCCCGTGTGTGTTTCCCCTT	0.537																																							uc001xdc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)ACA>ACC		hypothetical protein LOC145407 precursor							150.0	145.0	147.0					14																	58604955		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58604955T>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1122A>C	14.37:g.58604955T>G						C14orf37_uc010tro.1_Silent_p.T412T|C14orf37_uc001xdd.2_Silent_p.T374T|C14orf37_uc001xde.2_Silent_p.T374T	p.T374T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1233	-			374			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.1122A>C	CCDS32089.1																																																																																				0.537	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		7	235	0	0	0	0.00308	0	7	235				
TOMM20L	387990	broad.mit.edu	37	14	58869474	58869474	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:58869474C>A	ENST00000360945.2	+	3	299	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	86					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)		p.S86Y(1)		large_intestine(2)|lung(2)	4						CTTTGGTTATCTAGAGGTAAG	0.308																																							uc001xdr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TCT>TAT		translocase of outer mitochondrial membrane 20							143.0	160.0	154.0					14																	58869474		2203	4300	6503	SO:0001583	missense	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58869474C>A		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.257C>A	14.37:g.58869474C>A	ENSP00000354204:p.Ser86Tyr					TOMM20L_uc010trq.1_Intron	p.S86Y	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN			3	289	+			86			Cytoplasmic (Potential).		B2RPR0	Missense_Mutation	SNP	ENST00000360945.2	37	c.257C>A	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939434	0.52972	.	.	ENSG00000196860	ENST00000360945	T	0.32515	1.45	4.93	4.03	0.46877	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.469142	0.18192	N	0.148797	T	0.41143	0.1146	M	0.70275	2.135	0.24006	N	0.996196	D	0.56968	0.978	P	0.52267	0.694	T	0.33394	-0.9870	10	0.72032	D	0.01	-1.366	7.2145	0.25951	0.0:0.7378:0.1702:0.092	.	86	Q6UXN7	TO20L_HUMAN	Y	86	ENSP00000354204:S86Y	ENSP00000354204:S86Y	S	+	2	0	TOMM20L	57939227	0.928000	0.31464	0.996000	0.52242	0.976000	0.68499	0.981000	0.29526	1.288000	0.44600	0.585000	0.79938	TCT		0.308	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		21	113	1	0	4.26978e-12	0.00333	6.00556e-12	21	113				
PLEKHH1	57475	broad.mit.edu	37	14	68042641	68042641	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:68042641G>A	ENST00000329153.5	+	16	2403	c.2271G>A	c.(2269-2271)ttG>ttA	p.L757L	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	757	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)		p.L757L(1)|p.L796L(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCAGACGGTTGCTTTCCTCCC	0.592																																							uc001xjl.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2269-2271)TTG>TTA		pleckstrin homology domain containing, family H							70.0	76.0	74.0					14																	68042641		2070	4203	6273	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68042641G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2271G>A	14.37:g.68042641G>A						PLEKHH1_uc010tsw.1_Silent_p.L325L|PLEKHH1_uc001xjn.1_Silent_p.L272L|PLEKHH1_uc010tsx.1_5'Flank	p.L757L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	16	2413	+			757			PH 2.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.2271G>A	CCDS45128.1																																																																																				0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		4	36	0	0	0	0.009096	0	4	36				
EIF2B2	8892	broad.mit.edu	37	14	75469819	75469819	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:75469819G>C	ENST00000266126.5	+	1	206	c.126G>C	c.(124-126)ctG>ctC	p.L42L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	42					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L42L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TAGGGTTGCTGCGCCAGATCA	0.672																																							uc001xrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(124-126)CTG>CTC		eukaryotic translation initiation factor 2B,							27.0	30.0	29.0					14																	75469819		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75469819G>C		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.126G>C	14.37:g.75469819G>C							p.L42L	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	1	208	+			42					O43201	Silent	SNP	ENST00000266126.5	37	c.126G>C	CCDS9836.1																																																																																				0.672	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		4	37	0	0	0	0.000602	0	4	37				
SYNE3	161176	broad.mit.edu	37	14	95906001	95906001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:95906001C>G	ENST00000334258.5	-	12	2208	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	SYNE3_ENST00000554873.1_Missense_Mutation_p.E489Q|SYNE3_ENST00000557275.1_Missense_Mutation_p.E732Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	732					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.E732Q(3)		breast(1)|endometrium(2)|lung(25)	28						TCTGCCAGCTCCCTGAGCTCC	0.637																																							uc001yei.3		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(2194-2196)GAG>CAG		nesprin-3							50.0	54.0	52.0					14																	95906001		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95906001C>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2194G>C	14.37:g.95906001C>G	ENSP00000334308:p.Glu732Gln					C14orf49_uc010avi.2_Missense_Mutation_p.E732Q	p.E732Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	12	2209	-		all_cancers(154;0.0937)	732			Spectrin 2.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2194G>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199613	0.22121	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.35973	1.28;1.28;1.28	5.21	3.25	0.37280	.	0.343970	0.20870	N	0.084197	T	0.25827	0.0629	L	0.48642	1.525	0.80722	D	1	B;B	0.30889	0.254;0.299	B;B	0.30105	0.062;0.111	T	0.02781	-1.1111	10	0.11485	T	0.65	-26.0672	7.6052	0.28097	0.0:0.7369:0.1681:0.0951	.	732;732	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	Q	732;489;732	ENSP00000334308:E732Q;ENSP00000452154:E489Q;ENSP00000450562:E732Q	ENSP00000334308:E732Q	E	-	1	0	C14orf49	94975754	0.888000	0.30383	0.986000	0.45419	0.395000	0.30598	0.657000	0.24963	1.172000	0.42781	0.462000	0.41574	GAG		0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		14	47	0	0	0	0.00499	0	14	47				
AK7	122481	broad.mit.edu	37	14	96922763	96922763	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:96922763T>C	ENST00000267584.4	+	11	1222	c.1178T>C	c.(1177-1179)cTg>cCg	p.L393P		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	393	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.L393P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TACTACAAACTGCATCACATC	0.393																																							uc001yfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1177-1179)CTG>CCG		adenylate kinase 7							174.0	151.0	159.0					14																	96922763		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96922763T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1178T>C	14.37:g.96922763T>C	ENSP00000267584:p.Leu393Pro						p.L393P	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	11	1222	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	393			Adenylate kinase.|Potential.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1178T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819699	0.50633	.	.	ENSG00000140057	ENST00000267584	T	0.69040	-0.37	4.7	4.7	0.59300	.	0.228496	0.38111	N	0.001813	T	0.81422	0.4819	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.84314	0.0512	10	0.87932	D	0	-8.6519	13.1709	0.59597	0.0:0.0:0.0:1.0	.	393	Q96M32	KAD7_HUMAN	P	393	ENSP00000267584:L393P	ENSP00000267584:L393P	L	+	2	0	AK7	95992516	1.000000	0.71417	0.959000	0.39883	0.316000	0.28119	6.425000	0.73370	1.752000	0.51891	0.379000	0.24179	CTG		0.393	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			17	114	0	0	0	0.00499	0	17	114				
C14orf177	283598	broad.mit.edu	37	14	99183529	99183529	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:99183529C>G	ENST00000325812.2	+	4	715	c.296C>G	c.(295-297)gCt>gGt	p.A99G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	99								p.A99G(1)|p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATAATGTCTGCTTCGACCATC	0.413																																							uc001yfz.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(295-297)GCT>GGT		hypothetical protein LOC283598							136.0	108.0	117.0					14																	99183529		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99183529C>G	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.296C>G	14.37:g.99183529C>G	ENSP00000321360:p.Ala99Gly						p.A99G	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	715	+		Melanoma(154;0.128)	99					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.296C>G	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215671	0.22373	.	.	ENSG00000176605	ENST00000325812	T	0.39056	1.1	3.23	-2.13	0.07144	.	.	.	.	.	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.17592	-1.0364	9	0.87932	D	0	.	4.1663	0.10308	0.3682:0.3969:0.2349:0.0	.	99	Q52M58	CN177_HUMAN	G	99	ENSP00000321360:A99G	ENSP00000321360:A99G	A	+	2	0	C14orf177	98253282	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.535000	0.02210	-0.451000	0.07097	-0.262000	0.10625	GCT		0.413	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		10	74	0	0	0	0.006214	0	10	74				
MOK	5891	broad.mit.edu	37	14	102718263	102718263	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:102718263T>A	ENST00000361847.2	-	5	584	c.353A>T	c.(352-354)cAt>cTt	p.H118L	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.H118L|MOK_ENST00000524214.1_Missense_Mutation_p.H88L	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H118L(1)									CCTGTGAATATGATCCAGGGA	0.323																																							uc001ylm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(352-354)CAT>CTT		MAPK/MAK/MRK overlapping kinase							87.0	93.0	91.0					14																	102718263		2203	4299	6502	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102718263T>A	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.353A>T	14.37:g.102718263T>A	ENSP00000355304:p.His118Leu					RAGE_uc010txv.1_Missense_Mutation_p.H88L|RAGE_uc001yln.2_5'UTR	p.H118L	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			5	579	-			118			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.353A>T	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	15.63	2.890312	0.52014	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.66815	-0.23;-0.23;-0.23	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.64676	1.99	0.80722	D	1	D;D	0.67145	0.975;0.996	D;D	0.70227	0.925;0.968	T	0.79892	-0.1611	10	0.56958	D	0.05	-5.8128	13.7031	0.62622	0.0:0.0:0.0:1.0	.	88;118	E7ERR8;Q9UQ07	.;MOK_HUMAN	L	118;118;88	ENSP00000429469:H118L;ENSP00000355304:H118L;ENSP00000428942:H88L	ENSP00000355304:H118L	H	-	2	0	RAGE	101788016	1.000000	0.71417	0.041000	0.18516	0.075000	0.17131	5.404000	0.66344	2.067000	0.61834	0.528000	0.53228	CAT		0.323	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			20	59	0	0	0	0.00278	0	20	59				
AHNAK2	113146	broad.mit.edu	37	14	105416752	105416752	+	Missense_Mutation	SNP	G	G	T	rs11852054	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:105416752G>T	ENST00000333244.5	-	7	5155	c.5036C>A	c.(5035-5037)gCc>gAc	p.A1679D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1679						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCGAGGCCTCGATGGA	0.582													.|||	4	0.000798722	0.0023	0.0	5008	,	,		17345	0.0		0.001	False		,,,				2504	0.0						uc010axc.1		NA																	0				ovary(1)	1						c.(5035-5037)GCC>GAC		AHNAK nucleoprotein 2		G	ASP/ALA	10,3900		1,8,1946	177.0	202.0	194.0		5036	3.1	0.0	14	dbSNP_120	194	1,8211		0,1,4105	yes	missense	AHNAK2	NM_138420.2	126	1,9,6051	TT,TG,GG		0.0122,0.2558,0.0907	possibly-damaging	1679/5796	105416752	11,12111	1955	4106	6061	SO:0001583	missense	113146					nucleus		g.chr14:105416752G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5036C>A	14.37:g.105416752G>T	ENSP00000353114:p.Ala1679Asp					AHNAK2_uc001ypx.2_Missense_Mutation_p.A1579D	p.A1679D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5156	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1679					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5036C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.433048	0.43224	0.002558	1.22E-4	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.97	3.07	0.35406	.	.	.	.	.	T	0.03477	0.0100	M	0.72894	2.215	0.09310	N	1	D	0.76494	0.999	D	0.97110	1.0	T	0.41538	-0.9503	9	0.17369	T	0.5	-13.3007	7.3097	0.26467	0.2119:0.0:0.7881:0.0	.	1679	Q8IVF2	AHNK2_HUMAN	D	1679	ENSP00000353114:A1679D	ENSP00000353114:A1679D	A	-	2	0	AHNAK2	104487797	0.084000	0.21492	0.003000	0.11579	0.007000	0.05969	1.146000	0.31589	0.648000	0.30732	0.430000	0.28490	GCC		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	144	1	0	0.00448238	0.004482	0.00477449	5	144				
PACS2	23241	broad.mit.edu	37	14	105818726	105818726	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:105818726A>G	ENST00000325438.8	+	3	723	c.219A>G	c.(217-219)cgA>cgG	p.R73R	PACS2_ENST00000447393.1_Silent_p.R73R|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_Silent_p.R73R|PACS2_ENST00000430725.2_Silent_p.R6R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	73					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.R73R(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCCAAACGAATCCTGCGGT	0.532											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001yqt.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(217-219)CGA>CGG		phosphofurin acidic cluster sorting protein 2							235.0	204.0	214.0					14																	105818726		2203	4300	6503	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818726A>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.219A>G	14.37:g.105818726A>G			OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_uc001yqs.2_Silent_p.R6R|PACS2_uc001yqv.2_Silent_p.R73R|PACS2_uc001yqu.2_Silent_p.R73R	p.R73R	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	394	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	73					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.219A>G	CCDS32168.1																																																																																				0.532	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		19	221	0	0	0	0.006122	0	19	221				
GABRG3	2567	broad.mit.edu	37	15	27777780	27777780	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:27777780C>T	ENST00000333743.6	+	10	1411	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	386				T -> P (in Ref. 1; AAB39369). {ECO:0000305}.	gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.T386I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACCACCAACTGCGATGATC	0.428																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)ACT>ATT		gamma-aminobutyric acid (GABA) A receptor, gamma							98.0	99.0	99.0					15																	27777780		1974	4157	6131	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777780C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1157C>T	15.37:g.27777780C>T	ENSP00000331912:p.Thr386Ile						p.T386I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1323	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	386	T -> P (in Ref. 1; AAB39369).		Cytoplasmic (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1157C>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027691	0.35797	.	.	ENSG00000182256	ENST00000333743	D	0.84070	-1.8	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.444322	0.24339	N	0.039383	T	0.75583	0.3869	N	0.19112	0.55	0.43029	D	0.994594	B	0.12013	0.005	B	0.25759	0.063	T	0.69495	-0.5130	10	0.40728	T	0.16	.	17.3166	0.87226	0.0:1.0:0.0:0.0	.	386	Q99928	GBRG3_HUMAN	I	386	ENSP00000331912:T386I	ENSP00000331912:T386I	T	+	2	0	GABRG3	25451375	0.001000	0.12720	0.056000	0.19401	0.960000	0.62799	1.023000	0.30065	2.772000	0.95346	0.650000	0.86243	ACT		0.428	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			7	32	0	0	0	0.001984	0	7	32				
APBA2	321	broad.mit.edu	37	15	29346679	29346679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:29346679C>A	ENST00000558402.1	+	5	1191	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	APBA2_ENST00000558259.1_Missense_Mutation_p.P198T|APBA2_ENST00000561069.1_Missense_Mutation_p.P198T|APBA2_ENST00000411764.1_Missense_Mutation_p.P198T|APBA2_ENST00000558330.1_Missense_Mutation_p.P198T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	198	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.P198T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGACTACTACCCCGAGGAGGC	0.632																																							uc001zck.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)CCC>ACC		amyloid beta A4 precursor protein-binding,							46.0	39.0	41.0					15																	29346679		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346679C>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.592C>A	15.37:g.29346679C>A	ENSP00000453293:p.Pro198Thr					APBA2_uc010azj.2_Missense_Mutation_p.P198T|APBA2_uc010uat.1_Missense_Mutation_p.P198T|APBA2_uc001zcl.2_Missense_Mutation_p.P198T|APBA2_uc010uas.1_Missense_Mutation_p.P198T	p.P198T	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	799	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	198	DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).		STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.592C>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	c	7.874	0.728686	0.15507	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.44482	0.92	4.77	3.85	0.44370	.	0.281933	0.35903	N	0.002914	T	0.35219	0.0924	M	0.64997	1.995	0.30930	N	0.726971	P;P;P	0.44986	0.847;0.717;0.717	B;B;B	0.39185	0.293;0.227;0.227	T	0.40156	-0.9578	10	0.29301	T	0.29	.	7.6681	0.28443	0.1646:0.7531:0.0:0.0822	.	198;198;198	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	T	198	ENSP00000409312:P198T	ENSP00000219865:P198T	P	+	1	0	APBA2	27133971	0.998000	0.40836	0.977000	0.42913	0.056000	0.15407	1.911000	0.39937	1.133000	0.42147	-0.127000	0.14921	CCC		0.632	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		10	23	1	0	4.68919e-08	0.008291	5.93505e-08	10	23				
SPG11	80208	broad.mit.edu	37	15	44905680	44905680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:44905680G>C	ENST00000261866.7	-	17	3109	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	SPG11_ENST00000427534.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000535302.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.H1031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1031					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.H1031Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAACCAAGGGTGTGCTTCAT	0.343																																							uc001ztx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3091-3093)CAC>CAG		spatacsin isoform 1							134.0	123.0	127.0					15																	44905680		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44905680G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3093C>G	15.37:g.44905680G>C	ENSP00000261866:p.His1031Gln					SPG11_uc010ueh.1_Missense_Mutation_p.H1031Q|SPG11_uc010uei.1_Missense_Mutation_p.H1031Q	p.H1031Q	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	17	3124	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1031			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3093C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587586	0.28268	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.31769	1.48;1.48;1.48	6.17	2.26	0.28386	.	0.445380	0.26556	N	0.023706	T	0.24624	0.0597	L	0.50919	1.6	0.80722	D	1	B;B;B	0.22211	0.017;0.066;0.017	B;B;B	0.17722	0.015;0.019;0.015	T	0.04915	-1.0918	10	0.28530	T	0.3	.	9.0295	0.36249	0.3951:0.0:0.6049:0.0	.	1031;1031;1031	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	Q	1031	ENSP00000261866:H1031Q;ENSP00000445278:H1031Q;ENSP00000396110:H1031Q	ENSP00000261866:H1031Q	H	-	3	2	SPG11	42692972	0.957000	0.32711	1.000000	0.80357	0.958000	0.62258	-0.030000	0.12308	0.500000	0.27991	-0.137000	0.14449	CAC		0.343	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			11	52	0	0	0	0.000978	0	11	52				
GATM	2628	broad.mit.edu	37	15	45660383	45660383	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:45660383C>A	ENST00000396659.3	-	4	899	c.560G>T	c.(559-561)cGt>cTt	p.R187L	GATM_ENST00000558336.1_Missense_Mutation_p.R187L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	187					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.R187L(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GAAGCGTGAACGCCATGCCAT	0.488																																							uc001zvc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CGT>CTT		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						120.0	98.0	106.0					15																	45660383		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45660383C>A	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.560G>T	15.37:g.45660383C>A	ENSP00000379895:p.Arg187Leu					GATM_uc001zvb.2_Missense_Mutation_p.R58L|GATM_uc010uev.1_Missense_Mutation_p.R240L	p.R187L	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	4	889	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	187					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.560G>T	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143748	0.94603	.	.	ENSG00000171766	ENST00000396659	T	0.44083	0.93	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76211	-0.3042	10	0.66056	D	0.02	-10.3208	16.8484	0.85987	0.0:1.0:0.0:0.0	.	187;187	P50440-3;P50440	.;GATM_HUMAN	L	187	ENSP00000379895:R187L	ENSP00000379895:R187L	R	-	2	0	GATM	43447675	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	7.395000	0.79876	2.579000	0.87056	0.460000	0.39030	CGT		0.488	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		9	29	1	0	1.58986e-06	0.008291	1.91511e-06	9	29				
SEMA6D	80031	broad.mit.edu	37	15	48057206	48057206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48057206G>T	ENST00000316364.5	+	13	1819	c.1380G>T	c.(1378-1380)ttG>ttT	p.L460F	SEMA6D_ENST00000358066.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L460F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	460	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.L460F(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)		CTTTCTCTTTGAACGACAGCG	0.453																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(1378-1380)TTG>TTT		semaphorin 6D isoform 4 precursor							129.0	114.0	119.0					15																	48057206		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48057206G>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.1380G>T	15.37:g.48057206G>T	ENSP00000324857:p.Leu460Phe					SEMA6D_uc001zvw.2_Missense_Mutation_p.L460F|SEMA6D_uc001zvx.1_Missense_Mutation_p.L460F|SEMA6D_uc001zvy.2_Missense_Mutation_p.L460F|SEMA6D_uc001zvz.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwa.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwb.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwc.2_Missense_Mutation_p.L460F	p.L460F	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	13	1740	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	460			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1380G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437873	0.83885	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.995;0.997;0.998;0.997	P;P;P;D;P	0.76575	0.867;0.858;0.867;0.988;0.869	T	0.00125	-1.2022	10	0.56958	D	0.05	.	13.26	0.60101	0.0721:0.0:0.9279:0.0	.	460;460;460;460;460	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	460	ENSP00000442040:L460F;ENSP00000446152:L460F;ENSP00000324857:L460F;ENSP00000374084:L460F;ENSP00000374083:L460F;ENSP00000346786:L460F;ENSP00000350770:L460F;ENSP00000374079:L460F;ENSP00000348276:L460F;ENSP00000374076:L460F	ENSP00000324857:L460F	L	+	3	2	SEMA6D	45844498	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.726000	0.68515	2.733000	0.93635	0.655000	0.94253	TTG		0.453	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		5	103	1	0	2.7689e-08	0.001984	3.53762e-08	5	103				
SLC24A5	283652	broad.mit.edu	37	15	48413344	48413344	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48413344C>A	ENST00000341459.3	+	1	176	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	SLC24A5_ENST00000449382.2_Missense_Mutation_p.R35S|SLC24A5_ENST00000482911.2_Missense_Mutation_p.R35S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	35					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R35S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGCCCCAACGTCTCCCAAG	0.587																																							uc001zwe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)CGT>AGT		solute carrier family 24, member 5 precursor							53.0	45.0	48.0					15																	48413344		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48413344C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.103C>A	15.37:g.48413344C>A	ENSP00000341550:p.Arg35Ser					SLC24A5_uc001zwd.2_Missense_Mutation_p.R35S|SLC24A5_uc010bel.2_Missense_Mutation_p.R35S	p.R35S	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	1	176	+		all_lung(180;0.00217)	35			Extracellular (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.103C>A	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024353	0.35701	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75154	-0.91;-0.82	5.38	2.33	0.28932	.	0.117201	0.39407	N	0.001380	T	0.56337	0.1978	L	0.27053	0.805	0.09310	N	1	B;B;B	0.25169	0.0;0.003;0.119	B;B;B	0.17433	0.001;0.002;0.018	T	0.31943	-0.9925	10	0.10111	T	0.7	.	12.2808	0.54762	0.5823:0.4177:0.0:0.0	.	35;35;35	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	S	35	ENSP00000341550:R35S;ENSP00000389966:R35S	ENSP00000341550:R35S	R	+	1	0	SLC24A5	46200636	0.306000	0.24490	0.436000	0.26797	0.493000	0.33554	1.345000	0.33953	0.347000	0.23924	0.655000	0.94253	CGT		0.587	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		6	14	1	0	2.0095e-06	0.001984	2.40531e-06	6	14				
SLC12A1	6557	broad.mit.edu	37	15	48537080	48537080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48537080C>A	ENST00000558405.1	+	10	1445	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.Y477*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.Y477*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	477					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.Y477*(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CATGTCAGTACGGGCTGATGA	0.383																																							uc001zwn.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1429-1431)TAC>TAA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						127.0	108.0	114.0					15																	48537080		2198	4297	6495	SO:0001587	stop_gained	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48537080C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1431C>A	15.37:g.48537080C>A	ENSP00000453409:p.Tyr477*					SLC12A1_uc010uew.1_Nonsense_Mutation_p.Y283*|SLC12A1_uc010bem.2_Nonsense_Mutation_p.Y477*|SLC12A1_uc001zwq.3_Nonsense_Mutation_p.Y248*|SLC12A1_uc001zwr.3_Nonsense_Mutation_p.Y204*	p.Y477*	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	11	1647	+		all_lung(180;0.00219)	477					A8JYA2|E9PDW4	Nonsense_Mutation	SNP	ENST00000558405.1	37	c.1431C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173768	0.38413	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	-6.04	0.02178	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9289	0.79644	0.0:0.4143:0.0:0.5857	.	.	.	.	X	290;477;477	.	ENSP00000370381:Y477X	Y	+	3	2	SLC12A1	46324372	0.134000	0.22483	0.901000	0.35422	0.030000	0.12068	-0.547000	0.06055	-1.159000	0.02807	-2.687000	0.00140	TAC		0.383	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			17	45	1	0	1.02788e-11	0.00499	1.44361e-11	17	45				
SECISBP2L	9728	broad.mit.edu	37	15	49284799	49284799	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:49284799A>C	ENST00000559471.1	-	18	3211	c.2948T>G	c.(2947-2949)cTt>cGt	p.L983R	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L938R	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	983							poly(A) RNA binding (GO:0044822)	p.L938R(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCCAGGTACAAGAGTGCTGGT	0.478																																							uc001zxe.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2947-2949)CTT>CGT		SECIS binding protein 2-like							92.0	86.0	88.0					15																	49284799		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284799A>C	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2948T>G	15.37:g.49284799A>C	ENSP00000453854:p.Leu983Arg					SECISBP2L_uc001zxd.1_Missense_Mutation_p.L938R	p.L983R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3082	-			983					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2948T>G	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298215	0.81025	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.83837	-1.77	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.85965	0.5820	L	0.29908	0.895	0.48341	D	0.999638	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86723	0.1943	10	0.49607	T	0.09	-14.1477	15.2121	0.73235	1.0:0.0:0.0:0.0	.	983;938	Q93073;Q93073-2	SBP2L_HUMAN;.	R	938;983	ENSP00000261847:L938R	ENSP00000261847:L938R	L	-	2	0	SECISBP2L	47072091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	2.183000	0.69458	0.533000	0.62120	CTT		0.478	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		4	97	0	0	0	0.000602	0	4	97				
SECISBP2L	9728	broad.mit.edu	37	15	49327723	49327723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:49327723C>A	ENST00000559471.1	-	3	599	c.336G>T	c.(334-336)atG>atT	p.M112I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M112I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	112							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATGGTGCTGGCATCAGCTGAT	0.453																																							uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(334-336)ATG>ATT		SECIS binding protein 2-like							139.0	132.0	134.0					15																	49327723		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49327723C>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.336G>T	15.37:g.49327723C>A	ENSP00000453854:p.Met112Ile					SECISBP2L_uc001zxd.1_Missense_Mutation_p.M112I|SECISBP2L_uc010bep.1_Intron|SECISBP2L_uc010beq.1_Missense_Mutation_p.M112I	p.M112I	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			3	470	-			112					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.336G>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922431	0.92319	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76060	-0.99	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	L	0.34521	1.04	0.80722	D	1	D;D	0.58268	0.975;0.982	D;D	0.68943	0.937;0.961	T	0.80870	-0.1189	10	0.49607	T	0.09	.	19.5491	0.95310	0.0:1.0:0.0:0.0	.	112;112	Q93073;Q93073-2	SBP2L_HUMAN;.	I	112	ENSP00000261847:M112I	ENSP00000261847:M112I	M	-	3	0	SECISBP2L	47115015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.247000	0.78257	2.616000	0.88540	0.655000	0.94253	ATG		0.453	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		7	187	1	0	0.00307968	0.00308	0.00329147	7	187				
SLC27A2	11001	broad.mit.edu	37	15	50519376	50519376	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:50519376G>A	ENST00000267842.5	+	7	1689		c.e7+1		SLC27A2_ENST00000380902.4_Splice_Site|SLC27A2_ENST00000544960.1_Splice_Site	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.?(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATACATTCCGGTTGGTTTTTC	0.398																																							uc001zxw.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e7+1		solute carrier family 27 (fatty acid							80.0	82.0	81.0					15																	50519376		2196	4295	6491	SO:0001630	splice_region_variant	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50519376G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1457+1G>A	15.37:g.50519376G>A						SLC27A2_uc010bes.2_Splice_Site_p.R433_splice|SLC27A2_uc001zxx.2_Splice_Site_p.R251_splice	p.R486_splice	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	7	1689	+		all_lung(180;0.00177)						A8K2J7|Q53FY6|Q6PF09	Splice_Site	SNP	ENST00000267842.5	37	c.1457_splice	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950110	0.92660	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5141	0.87768	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC27A2	48306668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.550000	0.98110	2.730000	0.93505	0.655000	0.94253	.		0.398	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	Intron	5	94	0	0	0	0.001168	0	5	94				
WDR72	256764	broad.mit.edu	37	15	54003555	54003555	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:54003555A>T	ENST00000396328.1	-	8	1074	c.835T>A	c.(835-837)Tac>Aac	p.Y279N	WDR72_ENST00000559418.1_Missense_Mutation_p.Y279N|WDR72_ENST00000557913.1_Missense_Mutation_p.Y278N|WDR72_ENST00000360509.5_Missense_Mutation_p.Y279N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	279								p.Y279N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGATAGATGTAACTGTGACCA	0.448																																							uc002acj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(835-837)TAC>AAC		WD repeat domain 72							120.0	111.0	114.0					15																	54003555		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54003555A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.835T>A	15.37:g.54003555A>T	ENSP00000379619:p.Tyr279Asn					WDR72_uc010bfi.1_Missense_Mutation_p.Y279N	p.Y279N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	8	877	-			279					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.835T>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292837	0.60086	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.48522	0.81;0.81	5.71	1.86	0.25419	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.605830	0.17308	N	0.178984	T	0.56746	0.2006	M	0.72894	2.215	0.34064	D	0.657613	D	0.71674	0.998	P	0.62014	0.897	T	0.63305	-0.6667	10	0.49607	T	0.09	.	3.7089	0.08411	0.6589:0.1375:0.072:0.1317	.	279	Q3MJ13	WDR72_HUMAN	N	279	ENSP00000379619:Y279N;ENSP00000353699:Y279N	ENSP00000353699:Y279N	Y	-	1	0	WDR72	51790847	1.000000	0.71417	0.716000	0.30569	0.989000	0.77384	3.239000	0.51360	0.508000	0.28173	0.528000	0.53228	TAC		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		15	94	0	0	0	0.00499	0	15	94				
TBC1D21	161514	broad.mit.edu	37	15	74178875	74178875	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:74178875G>T	ENST00000300504.2	+	8	782	c.699G>T	c.(697-699)gtG>gtT	p.V233V	TBC1D21_ENST00000562056.1_Silent_p.V196V|TBC1D21_ENST00000535547.2_Silent_p.V197V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	233	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.V233V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGGGCTGTGCAGTCCCTCT	0.562																																							uc002avz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(697-699)GTG>GTT		TBC1 domain family, member 21							148.0	110.0	123.0					15																	74178875		2198	4297	6495	SO:0001819	synonymous_variant	161514					intracellular	Rab GTPase activator activity	g.chr15:74178875G>T	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.699G>T	15.37:g.74178875G>T						TBC1D21_uc010ulc.1_Silent_p.V197V	p.V233V	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			8	782	+			233			Rab-GAP TBC.		B9A6M2	Silent	SNP	ENST00000300504.2	37	c.699G>T	CCDS10252.1																																																																																				0.562	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		7	42	1	0	0.000157383	0.00308	0.000176986	7	42				
SCAMP5	192683	broad.mit.edu	37	15	75310808	75310808	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:75310808G>T	ENST00000361900.6	+	7	652	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	SCAMP5_ENST00000425597.3_Missense_Mutation_p.V149L|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V82L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.V78L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V157L	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	149					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)		p.V157L(1)|p.V149L(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGGCTCGGCGGTGGTGATGCT	0.582																																							uc002azk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(445-447)GTG>TTG		secretory carrier membrane protein 5							184.0	172.0	176.0					15																	75310808		2046	4189	6235	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310808G>T	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.445G>T	15.37:g.75310808G>T	ENSP00000355387:p.Val149Leu					SCAMP5_uc002azl.1_Missense_Mutation_p.V149L|SCAMP5_uc002azm.1_Missense_Mutation_p.V149L|SCAMP5_uc002azn.1_Missense_Mutation_p.V157L|SCAMP5_uc010uly.1_Missense_Mutation_p.V78L	p.V149L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			6	607	+			149			Helical; (Potential).		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.445G>T	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302914	0.40795	.	.	ENSG00000198794	ENST00000361900;ENST00000425597;ENST00000545456	T;T;T	0.19938	2.11;2.11;2.11	4.53	4.53	0.55603	.	0.061517	0.64402	N	0.000004	T	0.17916	0.0430	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.15484	0.013;0.003;0.009	T	0.04870	-1.0921	10	0.72032	D	0.01	-11.6573	16.4422	0.83905	0.0:0.0:1.0:0.0	.	78;157;149	Q8TAC9-3;Q8TAC9-2;Q8TAC9	.;.;SCAM5_HUMAN	L	149;149;78	ENSP00000355387:V149L;ENSP00000406547:V149L;ENSP00000439685:V78L	ENSP00000355387:V149L	V	+	1	0	SCAMP5	73097861	1.000000	0.71417	0.937000	0.37676	0.080000	0.17528	7.570000	0.82390	2.338000	0.79540	0.561000	0.74099	GTG		0.582	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		13	106	1	0	9.31168e-06	0.001855	1.09522e-05	13	106				
CSPG4	1464	broad.mit.edu	37	15	75982722	75982722	+	Missense_Mutation	SNP	A	A	T	rs369851174		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:75982722A>T	ENST00000308508.5	-	3	776	c.684T>A	c.(682-684)ttT>ttA	p.F228L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	228	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.F228L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGTGAGTGTAAACTCTAGGG	0.617																																							uc002baw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(682-684)TTT>TTA		chondroitin sulfate proteoglycan 4 precursor							19.0	21.0	21.0					15																	75982722		2188	4268	6456	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982722A>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.684T>A	15.37:g.75982722A>T	ENSP00000312506:p.Phe228Leu						p.F228L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	777	-			228			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.684T>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.715	-0.267806	0.05754	.	.	ENSG00000173546	ENST00000308508	T	0.68025	-0.3	5.21	-5.75	0.02384	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.084830	0.50627	D	0.000106	T	0.46833	0.1413	L	0.44542	1.39	0.32113	N	0.589066	B	0.15141	0.012	B	0.12156	0.007	T	0.07139	-1.0788	10	0.41790	T	0.15	.	5.4661	0.16644	0.304:0.1078:0.4822:0.106	.	228	Q6UVK1	CSPG4_HUMAN	L	228	ENSP00000312506:F228L	ENSP00000312506:F228L	F	-	3	2	CSPG4	73769777	0.884000	0.30299	0.120000	0.21714	0.069000	0.16628	0.051000	0.14141	-1.022000	0.03346	-0.451000	0.05528	TTT		0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		23	36	0	0	0	0.003954	0	23	36				
PGPEP1L	145814	broad.mit.edu	37	15	99512842	99512843	+	Missense_Mutation	DNP	CG	CG	AA	rs566446012		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:99512842_99512843CG>AA	ENST00000378919.6	-	4	387_388	c.182_183CG>TT	c.(181-183)gCG>gTT	p.A61V	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A7V|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	61							cysteine-type peptidase activity (GO:0008234)	p.A61V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCAGAATGATCGCCTTGGCGGC	0.624																																							uc002bum.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GCG>GTT		pyroglutamyl-peptidase 1-like protein																																				SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512842_99512843CG>AA		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.182_183delinsAA	15.37:g.99512842_99512843delinsAA	ENSP00000368199:p.Ala61Val					PGPEP1L_uc010bop.2_Missense_Mutation_p.A7V|PGPEP1L_uc002bun.2_RNA	p.A61V	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN			4	388_389	-			61					H0YF86	Missense_Mutation	DNP	ENST00000378919.6	37	c.182_183CG>TT	CCDS53977.1																																																																																				0.624	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		18	101	0	0	0	0.004672	0	18	101				
CERS3	204219	broad.mit.edu	37	15	100942989	100942989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:100942989C>A	ENST00000394113.1	-	14	1771	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Nonsense_Mutation_p.E361*|CERS3_ENST00000284382.4_Nonsense_Mutation_p.E361*|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR			Q8IU89	CERS3_HUMAN	ceramide synthase 3	361					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|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.E361*(1)									CAATCCATCTCTTTGCCTTTG	0.493																																						NSCLC(135;1149 2482 10680 49908)	uc002bvz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1081-1083)GAG>TAG		LAG1 longevity assurance homolog 3							161.0	123.0	136.0					15																	100942989		2203	4300	6503	SO:0001587	stop_gained	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100942989C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1081G>T	15.37:g.100942989C>A	ENSP00000377672:p.Glu361*					LASS3_uc002bwa.2_Nonsense_Mutation_p.E372*|LASS3_uc002bwb.2_Nonsense_Mutation_p.E361*	p.E361*	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		13	1583	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		361					Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	c.1081G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	38	7.086396	0.98055	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	4.93	4.93	0.64822	.	3.067170	0.01296	N	0.010173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-1.5399	14.0175	0.64533	0.0:1.0:0.0:0.0	.	.	.	.	X	361;372;361	.	ENSP00000284382:E361X	E	-	1	0	CERS3	98760512	1.000000	0.71417	0.566000	0.28421	0.518000	0.34316	3.642000	0.54367	2.455000	0.83008	0.591000	0.81541	GAG		0.493	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		6	40	1	0	5.9392e-07	0.001168	7.23697e-07	6	40				
TPSAB1	7177	broad.mit.edu	37	16	1291632	1291632	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:1291632C>A	ENST00000338844.3	+	4	464	c.431C>A	c.(430-432)cCt>cAt	p.P144H	TPSAB1_ENST00000461509.2_Missense_Mutation_p.P151H	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P144H(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				ACCCTGCCCCCTGCCTCAGAG	0.672																																							uc002ckz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(430-432)CCT>CAT		tryptase alpha/beta 1 precursor							36.0	30.0	32.0					16																	1291632		2199	4298	6497	SO:0001583	missense	7177				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr16:1291632C>A	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.431C>A	16.37:g.1291632C>A	ENSP00000343577:p.Pro144His					TPSAB1_uc010uux.1_Missense_Mutation_p.P80H	p.P144H	NM_003294	NP_003285	Q15661	TRYB1_HUMAN			4	483	+		Hepatocellular(780;0.00369)	144			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.431C>A	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648002	0.29336	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88509	-2.39;-2.39	3.74	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.298550	0.24424	N	0.038658	D	0.89143	0.6631	L	0.37466	1.105	0.09310	N	1	D;D	0.55800	0.973;0.962	P;P	0.56474	0.697;0.799	T	0.82914	-0.0221	10	0.87932	D	0	.	13.456	0.61199	0.0:1.0:0.0:0.0	.	135;144	Q15661-2;Q15661	.;TRYB1_HUMAN	H	144;151	ENSP00000343577:P144H;ENSP00000418247:P151H	ENSP00000343577:P144H	P	+	2	0	TPSAB1	1231633	0.000000	0.05858	0.918000	0.36340	0.416000	0.31233	-0.380000	0.07427	1.819000	0.53055	0.479000	0.44913	CCT		0.672	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		3	12	1	0	0.00116845	0.001168	0.00127467	3	12				
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000588623.1_Silent_p.E192E|ALG1_ENST00000544428.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																							uc002cym.2		NA																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(907-909)GAA>GAG		beta-1,4-mannosyltransferase							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G						ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E	p.E303E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			9	950	+		Ovarian(90;0.0164)	303			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.909A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		3	138	0	0	0	0.001984	0	3	138				
NOMO1	23420	broad.mit.edu	37	16	14989374	14989374	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:14989374A>T	ENST00000287667.7	+	31	3712	c.3541A>T	c.(3541-3543)Att>Ttt	p.I1181F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1181						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.I1181F(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTTCTAGCTCATTCCTTTGCT	0.542																																							uc002dcv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3541-3543)ATT>TTT		nodal modulator 1 precursor							128.0	164.0	152.0					16																	14989374		2192	4295	6487	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989374A>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3541A>T	16.37:g.14989374A>T	ENSP00000287667:p.Ile1181Phe						p.I1181F	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			31	3607	+			1181			Cytoplasmic (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3541A>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	A	9.635	1.137350	0.21123	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.58797	0.31	2.99	1.87	0.25490	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.34521	1.04	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.11179	-1.0598	10	0.30854	T	0.27	-14.7786	6.2336	0.20750	0.8681:0.0:0.1319:0.0	.	1181	Q15155	NOMO1_HUMAN	F	1181;1181;1014	ENSP00000287667:I1181F	ENSP00000287667:I1181F	I	+	1	0	NOMO1	14896875	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.036000	0.64164	0.378000	0.24764	0.315000	0.21342	ATT		0.542	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			72	233	0	0	0	0.00361	0	72	233				
XYLT1	64131	broad.mit.edu	37	16	17353089	17353089	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:17353089G>T	ENST00000261381.6	-	3	753	c.669C>A	c.(667-669)gcC>gcA	p.A223A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	223					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.A223A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTGGCTGCGGCTCTGTCCC	0.592																																							uc002dfa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(667-669)GCC>GCA		xylosyltransferase I							106.0	117.0	113.0					16																	17353089		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353089G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.669C>A	16.37:g.17353089G>T							p.A223A	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	754	-			223			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.669C>A	CCDS10569.1																																																																																				0.592	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		34	165	1	0	3.62531e-18	0.004289	5.4726e-18	34	165				
SMG1	23049	broad.mit.edu	37	16	18882704	18882704	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:18882704T>C	ENST00000446231.2	-	16	2696	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E	SMG1_ENST00000389467.3_Missense_Mutation_p.K762E|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	762	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K758E(1)|p.K762E(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAAAGGCCTTTGCAAAATTTA	0.348																																							uc002dfm.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(2284-2286)AAA>GAA		PI-3-kinase-related kinase SMG-1							42.0	39.0	40.0					16																	18882704		1802	4065	5867	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18882704T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2284A>G	16.37:g.18882704T>C	ENSP00000402515:p.Lys762Glu					SMG1_uc010bwb.2_Missense_Mutation_p.K622E	p.K762E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			16	2647	-			762			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2284A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206225	0.58343	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.12879	2.64;2.64	5.26	5.26	0.73747	Armadillo-type fold (1);	0.071868	0.53938	U	0.000058	T	0.08088	0.0202	N	0.14661	0.345	0.46901	D	0.999244	B	0.26876	0.162	B	0.21917	0.037	T	0.15578	-1.0432	10	0.07813	T	0.8	.	15.4701	0.75434	0.0:0.0:0.0:1.0	.	762	Q96Q15	SMG1_HUMAN	E	762	ENSP00000402515:K762E;ENSP00000374118:K762E	ENSP00000374118:K762E	K	-	1	0	SMG1	18790205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.748000	0.85085	2.113000	0.64589	0.454000	0.30748	AAA		0.348	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		10	19	0	0	0	0.008291	0	10	19				
SLC5A11	115584	broad.mit.edu	37	16	24909338	24909338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:24909338C>A	ENST00000569071.1	+	8	781	c.516C>A	c.(514-516)tgC>tgA	p.C172*	SLC5A11_ENST00000545376.1_Missense_Mutation_p.A235D|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A270D|SLC5A11_ENST00000347898.3_Missense_Mutation_p.A305D|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000449109.2_Nonsense_Mutation_p.C172*|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A235D|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A270D					solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A305D(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)		CTGTCCCATGCCAAAGGAGGT	0.537																																							uc002dmu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(913-915)GCC>GAC		solute carrier family 5 (sodium/glucose							211.0	180.0	190.0					16																	24909338		2197	4300	6497	SO:0001587	stop_gained	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24909338C>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	ENST00000569071.1:c.516C>A	16.37:g.24909338C>A	ENSP00000456376:p.Cys172*					SLC5A11_uc002dms.2_Missense_Mutation_p.A241D|SLC5A11_uc010vcd.1_Missense_Mutation_p.A270D|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.C172*|SLC5A11_uc010vce.1_Missense_Mutation_p.A235D|SLC5A11_uc010bxt.2_Missense_Mutation_p.A241D	p.A305D	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	10	1146	+			305			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000569071.1	37	c.914C>A	CCDS58440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.801771|7.801771	0.98498|0.98498	.|.	.|.	ENSG00000158865|ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472|ENST00000449109	D;D;D;D|.	0.92149|.	-2.74;-2.98;-2.9;-2.86|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88325|.	0.6406|.	H|H	0.97516|0.97516	4.02|4.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.989;0.993|.	D|.	0.91218|.	0.5004|.	10|.	0.87932|0.49607	D|T	0|0.09	.|.	16.9482|16.9482	0.86236|0.86236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;270;305|.	B7Z329;Q8WWX8-2;Q8WWX8|.	.;.;SC5AB_HUMAN|.	D|X	305;270;235;241|172	ENSP00000289932:A305D;ENSP00000416782:A270D;ENSP00000441384:A235D;ENSP00000441018:A241D|.	ENSP00000289932:A305D|ENSP00000389606:C172X	A|C	+|+	2|3	0|2	SLC5A11|SLC5A11	24816839|24816839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.212000|3.212000	0.51145|0.51145	2.612000|2.612000	0.88384|0.88384	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.537	SLC5A11-006	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435852.1	NM_052944		12	285	1	0	0.00185496	0.001855	0.00201663	12	285				
CLN3	1201	broad.mit.edu	37	16	28488912	28488912	+	Silent	SNP	G	G	T	rs1064886		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:28488912G>T	ENST00000569430.1	-	17	2061	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	CLN3_ENST00000354630.5_Silent_p.I397I|CLN3_ENST00000565316.1_Silent_p.I397I|CLN3_ENST00000333496.9_Silent_p.I390I|CLN3_ENST00000357857.9_Silent_p.I360I|CLN3_ENST00000535392.1_Silent_p.I336I|CLN3_ENST00000568224.1_Silent_p.I336I|CLN3_ENST00000567963.1_Silent_p.I317I|CLN3_ENST00000357806.7_Silent_p.I315I|CLN3_ENST00000359984.7_Silent_p.I414I|CLN3_ENST00000360019.2_Silent_p.I414I|CLN3_ENST00000355477.5_Silent_p.I366I|CLN3_ENST00000395653.4_Silent_p.I314I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	414					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.I414I(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTGTGTCAGAGATGCAGGTGG	0.617																																							uc002dpo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1240-1242)ATC>ATA		ceroid-lipofuscinosis, neuronal 3							71.0	74.0	73.0					16																	28488912		2197	4300	6497	SO:0001819	synonymous_variant	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28488912G>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1242C>A	16.37:g.28488912G>T						uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.I336I|CLN3_uc010vcu.1_Silent_p.I314I|CLN3_uc002dpn.2_Silent_p.I315I|CLN3_uc002dpm.2_Silent_p.I360I|CLN3_uc010vcv.1_Silent_p.I390I|CLN3_uc010byd.2_Silent_p.I317I|CLN3_uc002dpp.2_Silent_p.I414I|CLN3_uc002dpt.1_Silent_p.I314I|CLN3_uc002dpq.1_Silent_p.I366I|CLN3_uc010bye.1_Silent_p.I397I|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Silent_p.I287I|CLN3_uc002dpu.1_Silent_p.I312I	p.I414I	NM_000086	NP_000077	Q13286	CLN3_HUMAN			15	1565	-			414			Helical; (Potential).		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	c.1242C>A	CCDS10632.1																																																																																				0.617	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			35	70	1	0	1.07121e-22	0.006999	1.69817e-22	35	70				
FAM57B	83723	broad.mit.edu	37	16	30041747	30041747	+	Silent	SNP	G	G	A	rs368430871		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:30041747G>A	ENST00000380495.4	-	1	833	c.102C>T	c.(100-102)gcC>gcT	p.A34A	FAM57B_ENST00000567037.1_5'Flank|FAM57B_ENST00000564806.1_5'Flank|FAM57B_ENST00000279389.4_5'Flank	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	34	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.A34A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGACTGCGTCGGCCTCCTCCC	0.622																																							uc002dvt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GCC>GCT		hypothetical protein LOC83723		G		0,3738		0,0,1869	25.0	32.0	30.0		102	1.5	1.0	16		30	1,8179		0,1,4089	no	coding-synonymous	FAM57B	NM_031478.4		0,1,5958	AA,AG,GG		0.0122,0.0,0.0084		34/275	30041747	1,11917	1869	4090	5959	SO:0001819	synonymous_variant	83723					endoplasmic reticulum|integral to membrane		g.chr16:30041747G>A	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.102C>T	16.37:g.30041747G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_5'Flank	p.A34A	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN			1	440	-			34			TLC.		Q9H0J1	Silent	SNP	ENST00000380495.4	37	c.102C>T	CCDS10667.2																																																																																				0.622	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		5	37	0	0	0	0.000602	0	5	37				
LONP2	83752	broad.mit.edu	37	16	48304127	48304127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:48304127G>T	ENST00000285737.4	+	7	1276	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	LONP2_ENST00000535754.1_Nonsense_Mutation_p.E351*	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.E395*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTAGGTCGAGAGTTCCACAG	0.463																																							uc002efi.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1183-1185)GAG>TAG		peroxisomal LON protease-like							156.0	142.0	147.0					16																	48304127		2200	4300	6500	SO:0001587	stop_gained	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48304127G>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1183G>T	16.37:g.48304127G>T	ENSP00000285737:p.Glu395*					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Nonsense_Mutation_p.E351*	p.E395*	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			7	1272	+			395						Nonsense_Mutation	SNP	ENST00000285737.4	37	c.1183G>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	38	7.070537	0.98044	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.2843	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	395;124;351;351	.	ENSP00000285737:E395X	E	+	1	0	LONP2	46861628	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.837000	0.99465	2.802000	0.96397	0.655000	0.94253	GAG		0.463	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		29	151	1	0	7.01153e-11	0.007291	9.6753e-11	29	151				
SALL1	6299	broad.mit.edu	37	16	51174718	51174718	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:51174718G>T	ENST00000251020.4	-	2	1448	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T375N|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	472					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T472N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCTCTCCGGTATGGGAACG	0.502																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(1414-1416)ACC>AAC		sal-like 1 isoform a							97.0	93.0	94.0					16																	51174718		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174718G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1415C>A	16.37:g.51174718G>T	ENSP00000251020:p.Thr472Asn					SALL1_uc010vgr.1_Missense_Mutation_p.T375N|SALL1_uc010cbv.2_Intron	p.T472N	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1446	-		all_cancers(37;0.0322)	472					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1415C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583854	0.65992	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.26067	1.76;1.76	5.29	5.29	0.74685	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50432	-0.8829	10	0.72032	D	0.01	.	18.9361	0.92586	0.0:0.0:1.0:0.0	.	472	Q9NSC2	SALL1_HUMAN	N	472;375;436	ENSP00000251020:T472N;ENSP00000407914:T375N	ENSP00000251020:T472N	T	-	2	0	SALL1	49732219	1.000000	0.71417	0.907000	0.35723	0.836000	0.47400	9.869000	0.99810	2.458000	0.83093	0.563000	0.77884	ACC		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		24	97	1	0	3.01185e-09	0.003954	3.94915e-09	24	97				
SALL1	6299	broad.mit.edu	37	16	51175401	51175401	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:51175401C>G	ENST00000251020.4	-	2	765	c.732G>C	c.(730-732)ctG>ctC	p.L244L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.L147L|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	244					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L244L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGATCAATTGCAGCTGGTGGA	0.542																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(730-732)CTG>CTC		sal-like 1 isoform a							82.0	85.0	84.0					16																	51175401		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175401C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.732G>C	16.37:g.51175401C>G						SALL1_uc010vgr.1_Silent_p.L147L|SALL1_uc010cbv.2_Intron	p.L244L	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	763	-		all_cancers(37;0.0322)	244					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.732G>C	CCDS10747.1																																																																																				0.542	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		28	71	0	0	0	0.002836	0	28	71				
CHD9	80205	broad.mit.edu	37	16	53338272	53338272	+	Silent	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:53338272T>G	ENST00000398510.3	+	30	6441	c.6354T>G	c.(6352-6354)tcT>tcG	p.S2118S	CHD9_ENST00000566029.1_Silent_p.S2118S|CHD9_ENST00000447540.1_Silent_p.S2118S|CHD9_ENST00000564845.1_Silent_p.S2118S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2118					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.S2118S(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)				ACCCAGCTTCTAAGAAACCAA	0.448																																							uc002ehb.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6352-6354)TCT>TCG		chromodomain helicase DNA binding protein 9							65.0	64.0	64.0					16																	53338272		1898	4111	6009	SO:0001819	synonymous_variant	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.chr16:53338272T>G	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.6354T>G	16.37:g.53338272T>G						CHD9_uc002egy.2_Silent_p.S2118S|CHD9_uc002ehc.2_Silent_p.S2118S|CHD9_uc002ehf.2_Silent_p.S1232S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S124S	p.S2118S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6518	+		all_cancers(37;0.0212)	2118					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.6354T>G																																																																																					0.448	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	20	0	0	0	0.000602	0	5	20				
IRX6	79190	broad.mit.edu	37	16	55360341	55360341	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:55360341C>T	ENST00000290552.7	+	2	1471	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	47					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L47F(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGCGCCCGCTCTCTGCTGCGC	0.637																																							uc002ehy.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(1)	6						c.(139-141)CTC>TTC		iroquois homeobox protein 6							41.0	37.0	39.0					16																	55360341		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360341C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.139C>T	16.37:g.55360341C>T	ENSP00000290552:p.Leu47Phe					IRX6_uc002ehx.2_Missense_Mutation_p.L47F|IRX6_uc010ccb.1_RNA	p.L47F	NM_024335	NP_077311	P78412	IRX6_HUMAN			2	672	+			47					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.139C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777937	0.31502	.	.	ENSG00000159387	ENST00000290552	D	0.86956	-2.19	5.19	5.19	0.71726	.	0.065731	0.64402	D	0.000007	T	0.80121	0.4565	L	0.27053	0.805	0.40018	D	0.975374	B	0.29162	0.235	B	0.28465	0.09	T	0.78745	-0.2084	10	0.46703	T	0.11	-18.1957	13.8149	0.63285	0.153:0.847:0.0:0.0	.	47	P78412	IRX6_HUMAN	F	47	ENSP00000290552:L47F	ENSP00000290552:L47F	L	+	1	0	IRX6	53917842	0.616000	0.27035	0.968000	0.41197	0.149000	0.21700	1.004000	0.29822	2.701000	0.92244	0.462000	0.41574	CTC		0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		5	25	0	0	0	0.001168	0	5	25				
CES5A	221223	broad.mit.edu	37	16	55883641	55883641	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:55883641G>T	ENST00000290567.9	-	11	1439	c.1318C>A	c.(1318-1320)Cag>Aag	p.Q440K	CES5A_ENST00000520435.1_Missense_Mutation_p.Q410K|CES5A_ENST00000521992.1_Missense_Mutation_p.Q469K|CES5A_ENST00000518005.1_Missense_Mutation_p.Q334K|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	440						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.Q469K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAAAGCACTGAGGCCGGTGC	0.557																																							uc002eip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)CAG>AAG		carboxylesterase 7 isoform 1							98.0	85.0	89.0					16																	55883641		1568	3582	5150	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55883641G>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1318C>A	16.37:g.55883641G>T	ENSP00000290567:p.Gln440Lys					CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.Q201K|CES7_uc002eir.2_Missense_Mutation_p.Q334K	p.Q440K	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	11	1467	-			440					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.1318C>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	9.607	1.130372	0.21041	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.37	2.33	0.28932	Carboxylesterase, type B (1);	1.777950	0.03010	N	0.149287	T	0.08313	0.0207	N	0.20445	0.575	0.09310	N	1	B	0.25441	0.126	B	0.31946	0.138	T	0.36383	-0.9750	10	0.49607	T	0.09	.	6.5346	0.22346	0.0959:0.3602:0.5439:0.0	.	440	Q6NT32	EST5A_HUMAN	K	469;334;440;410;220	ENSP00000428864:Q469K;ENSP00000428571:Q334K;ENSP00000290567:Q440K;ENSP00000428887:Q410K	ENSP00000290567:Q440K	Q	-	1	0	CES5A	54441142	0.000000	0.05858	0.048000	0.18961	0.446000	0.32137	0.164000	0.16542	0.738000	0.32606	0.462000	0.41574	CAG		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		10	37	1	0	1.52009e-12	0.003163	2.16373e-12	10	37				
HPR	3250	broad.mit.edu	37	16	72110394	72110394	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:72110394C>A	ENST00000540303.2	+	5	493	c.461C>A	c.(460-462)gCa>gAa	p.A154E	HPR_ENST00000228226.8_Missense_Mutation_p.A191E|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A154E	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.A154E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCAGAAAATGCAACAGCGAAA	0.463																																							uc002fby.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(460-462)GCA>GAA		haptoglobin-related protein precursor							82.0	54.0	63.0					16																	72110394		1929	4106	6035	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110394C>A	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.461C>A	16.37:g.72110394C>A	ENSP00000441828:p.Ala154Glu					TXNL4B_uc010cgl.2_Intron	p.A154E	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	491	+		Ovarian(137;0.125)	154			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.461C>A	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	1.995	-0.430855	0.04669	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.89050	-2.46;-2.46;-2.46	2.46	1.44	0.22558	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.287034	0.33382	N	0.004979	D	0.85669	0.5750	L	0.43757	1.38	0.09310	N	1	P	0.38473	0.633	P	0.47299	0.543	T	0.74551	-0.3628	10	0.25106	T	0.35	.	7.921	0.29846	0.4407:0.5593:0.0:0.0	.	154	P00739	HPTR_HUMAN	E	154;154;191	ENSP00000349451:A154E;ENSP00000441828:A154E;ENSP00000228226:A191E	ENSP00000228226:A191E	A	+	2	0	HP	70667895	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	1.232000	0.32636	0.340000	0.23745	0.194000	0.17425	GCA		0.463	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		16	40	1	0	6.44725e-10	0.002299	8.6695e-10	16	40				
SPATA2L	124044	broad.mit.edu	37	16	89764600	89764600	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:89764600C>A	ENST00000289805.5	-	3	485	c.417G>T	c.(415-417)gtG>gtT	p.V139V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	139								p.V139V(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCAGGGCGGTCACCATGAGCC	0.657																																							uc002foj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)GTG>GTT		spermatogenesis associated 2-like							71.0	80.0	77.0					16																	89764600		2197	4300	6497	SO:0001819	synonymous_variant	124044							g.chr16:89764600C>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.417G>T	16.37:g.89764600C>A						SPATA2L_uc002fok.2_Intron	p.V139V	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	482	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	139					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.417G>T	CCDS10985.1																																																																																				0.657	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		32	105	1	0	2.40579e-17	0.00623	3.6259e-17	32	105				
PRPF8	10594	broad.mit.edu	37	17	1557163	1557163	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:1557163G>A	ENST00000572621.1	-	37	6400	c.6135C>T	c.(6133-6135)cgC>cgT	p.R2045R	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.R2045R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2045					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R2045R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTGACAGTGCGAGTCTGTG	0.547																																							uc002fte.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)	6						c.(6133-6135)CGC>CGT		U5 snRNP-specific protein							348.0	244.0	279.0					17																	1557163		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1557163G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6135C>T	17.37:g.1557163G>A							p.R2045R	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	38	6249	-			2045					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.6135C>T	CCDS11010.1																																																																																				0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			70	197	0	0	0	0.00361	0	70	197				
SPATA22	84690	broad.mit.edu	37	17	3366057	3366057	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:3366057C>A	ENST00000573128.1	-	4	660	c.177G>T	c.(175-177)tgG>tgT	p.W59C	SPATA22_ENST00000572969.1_Missense_Mutation_p.W59C|SPATA22_ENST00000575375.1_Missense_Mutation_p.W59C|SPATA22_ENST00000268981.5_Missense_Mutation_p.W59C|SPATA22_ENST00000541913.1_Missense_Mutation_p.W43C|SPATA22_ENST00000397168.3_Missense_Mutation_p.W59C|SPATA22_ENST00000355380.4_Missense_Mutation_p.W16C			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	59					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.W59C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CTTCCCAGGCCCAATCTCAAA	0.338																																							uc002fvm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TGG>TGT		spermatogenesis associated 22							92.0	96.0	95.0					17																	3366057		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3366057C>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.177G>T	17.37:g.3366057C>A	ENSP00000459580:p.Trp59Cys					SPATA22_uc010vrg.1_Missense_Mutation_p.W43C|SPATA22_uc010vrf.1_Missense_Mutation_p.W59C|SPATA22_uc002fvn.2_Missense_Mutation_p.W59C|SPATA22_uc002fvo.2_Missense_Mutation_p.W59C|SPATA22_uc002fvp.2_Missense_Mutation_p.W59C|SPATA22_uc010ckf.2_Missense_Mutation_p.W16C	p.W59C	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			4	414	-			59					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.177G>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	c	15.72	2.917711	0.52546	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.20332	2.08;2.19;2.1;2.18	4.92	3.86	0.44501	.	0.000000	0.44097	D	0.000487	T	0.29223	0.0727	L	0.32530	0.975	0.47584	D	0.999462	D;D;D;D	0.89917	0.995;1.0;0.995;0.995	P;D;P;P	0.87578	0.847;0.998;0.847;0.847	T	0.02385	-1.1167	10	0.72032	D	0.01	-22.0559	5.5486	0.17078	0.1982:0.7032:0.0:0.0986	.	43;59;16;59	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	C	16;59;59;43	ENSP00000347541:W16C;ENSP00000380354:W59C;ENSP00000268981:W59C;ENSP00000441920:W43C	ENSP00000268981:W59C	W	-	3	0	SPATA22	3312807	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.503000	0.35715	2.660000	0.90430	0.591000	0.81541	TGG		0.338	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		62	123	1	0	1.17253e-29	0.00361	1.92311e-29	62	123				
DLG4	1742	broad.mit.edu	37	17	7097767	7097767	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7097767T>A	ENST00000399506.2	-	12	1540	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	DLG4_ENST00000399510.2_Missense_Mutation_p.Q493L|DLG4_ENST00000302955.6_Missense_Mutation_p.Q447L			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	450	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.Q493L(1)|p.Q447L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCTCAGGGCCTGGCTCAGGAA	0.597																																							uc002get.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1477-1479)CAG>CTG		post-synaptic density protein 95 isoform 1							37.0	43.0	41.0					17																	7097767		2107	4226	6333	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7097767T>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1349A>T	17.37:g.7097767T>A	ENSP00000382425:p.Gln450Leu					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.Q390L|DLG4_uc010cly.2_Missense_Mutation_p.Q447L|DLG4_uc010vto.1_Missense_Mutation_p.Q490L	p.Q493L	NM_001365	NP_001356	P78352	DLG4_HUMAN			14	2679	-			450			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1478A>T		.	.	.	.	.	.	.	.	.	.	T	32	5.171479	0.94807	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.49720	0.77;0.77;0.77	5.3	5.3	0.74995	Src homology-3 domain (4);	.	.	.	.	T	0.65015	0.2651	M	0.63843	1.955	0.80722	D	1	P;P;D;P	0.60575	0.733;0.869;0.988;0.949	P;P;D;D	0.79108	0.814;0.903;0.992;0.976	T	0.67837	-0.5567	9	0.72032	D	0.01	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	490;450;447;493	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	L	450;447;493;493;390;493	ENSP00000382425:Q450L;ENSP00000307471:Q447L;ENSP00000382428:Q493L	ENSP00000293813:Q493L	Q	-	2	0	DLG4	7038491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.068000	0.71201	2.235000	0.73313	0.533000	0.62120	CAG		0.597	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		7	10	0	0	0	0.006214	0	7	10				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	CM004908	TP53	M		c.(1024-1026)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574003G>A	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	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_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	20	0	0	0	0.00308	0	7	20				
TP53	7157	broad.mit.edu	37	17	7577095	7577095	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7577095G>T	ENST00000269305.4	-	8	1032	c.843C>A	c.(841-843)gaC>gaA	p.D281E	TP53_ENST00000445888.2_Missense_Mutation_p.D281E|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281E|TP53_ENST00000420246.2_Missense_Mutation_p.D281E|TP53_ENST00000359597.4_Missense_Mutation_p.D281E	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281E(28)|p.R282W(10)|p.0?(8)|p.D281D(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CTGTGCGCCGGTCTCTCCCAG	0.557		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		72	Substitution - Missense(39)|Deletion - In frame(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.D281E(25)|p.D281H(19)|p.D281N(18)|p.R282W(10)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(1)	skin(12)|upper_aerodigestive_tract(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|breast(6)|lung(5)|central_nervous_system(4)|bone(4)|urinary_tract(3)|oesophagus(3)|liver(3)|stomach(2)|endometrium(2)|large_intestine(1)|vulva(1)|genital_tract(1)|pancreas(1)|prostate(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						c.(841-843)GAC>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							82.0	70.0	74.0					17																	7577095		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.chr17:7577095G>T	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.843C>A	17.37:g.7577095G>T	ENSP00000269305:p.Asp281Glu	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.D281E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149E|TP53_uc010cng.1_Missense_Mutation_p.D149E|TP53_uc002gii.1_Missense_Mutation_p.D149E|TP53_uc010cnh.1_Missense_Mutation_p.D281E|TP53_uc010cni.1_Missense_Mutation_p.D281E|TP53_uc002gij.2_Missense_Mutation_p.D281E	p.D281E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1037	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (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.843C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166226	0.78339	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	4.99	0.696	0.18075	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	M	0.92649	3.33	0.52501	D	0.999959	D;D;D;P	0.71674	0.993;0.998;0.995;0.916	D;D;D;D	0.91635	0.965;0.999;0.951;0.943	D	0.98567	1.0644	10	0.87932	D	0	-25.6697	7.6418	0.28298	0.4422:0.0:0.5578:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	281;281;281;281;281;270;149	ENSP00000352610:D281E;ENSP00000269305:D281E;ENSP00000398846:D281E;ENSP00000391127:D281E;ENSP00000391478:D281E;ENSP00000425104:D149E	ENSP00000269305:D281E	D	-	3	2	TP53	7517820	1.000000	0.71417	0.915000	0.36163	0.964000	0.63967	1.949000	0.40313	0.286000	0.22352	0.462000	0.41574	GAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	48	1	0	1.33834e-09	0.007413	1.78194e-09	19	48				
TMEM107	84314	broad.mit.edu	37	17	8079332	8079332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:8079332G>A	ENST00000437139.2	-	2	187	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	TMEM107_ENST00000316425.5_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000532998.1_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000431792.2_Nonsense_Mutation_p.Q34*|SNORD118_ENST00000363593.1_RNA|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000449985.2_Intron	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	34					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)		p.Q34*(1)		large_intestine(1)|lung(4)|ovary(1)	6						AGGCAGGCCTGTATGTTGCTG	0.607																																							uc002gkg.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(100-102)CAG>TAG		transmembrane protein 107 isoform 2							78.0	77.0	77.0					17																	8079332		2203	4300	6503	SO:0001587	stop_gained	84314					integral to membrane		g.chr17:8079332G>A	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.100C>T	17.37:g.8079332G>A	ENSP00000402732:p.Gln34*					TMEM107_uc002gkh.3_Nonsense_Mutation_p.Q34*|TMEM107_uc002gki.3_Nonsense_Mutation_p.Q34*|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Nonsense_Mutation_p.Q34*	p.Q34*	NM_183065	NP_898888	Q6UX40	TM107_HUMAN			2	210	-			34					A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Nonsense_Mutation	SNP	ENST00000437139.2	37	c.100C>T	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	G	36	5.726669	0.96847	.	.	ENSG00000179029	ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425;ENST00000431792	.	.	.	5.63	4.63	0.57726	.	4.628630	0.00357	N	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	12.6498	0.56755	0.0:0.1662:0.8338:0.0	.	.	.	.	X	34	.	ENSP00000314116:Q34X	Q	-	1	0	TMEM107	8020057	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.627000	0.46469	1.458000	0.47871	0.551000	0.68910	CAG		0.607	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		5	93	0	0	0	0.000602	0	5	93				
WDR16	146845	broad.mit.edu	37	17	9503448	9503448	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:9503448C>G	ENST00000352665.5	+	6	770	c.701C>G	c.(700-702)cCc>cGc	p.P234R	WDR16_ENST00000299764.5_Missense_Mutation_p.P244R|WDR16_ENST00000396219.3_Missense_Mutation_p.P166R	NM_145054.4	NP_659491.4			WD repeat domain 16									p.P234R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAAATGAACCCCAGGACTAAA	0.468																																							uc002gly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(700-702)CCC>CGC		WD40-repeat protein upregulated in HCC isoform							164.0	160.0	161.0					17																	9503448		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503448C>G	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.701C>G	17.37:g.9503448C>G	ENSP00000339449:p.Pro234Arg					WDR16_uc002glz.2_Missense_Mutation_p.P166R|WDR16_uc010coc.2_Missense_Mutation_p.P244R	p.P234R	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			6	770	+			234						Missense_Mutation	SNP	ENST00000352665.5	37	c.701C>G	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793239	0.50102	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.90563	2.53;-2.69;5.02	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.209048	0.51477	D	0.000082	D	0.86636	0.5980	L	0.36672	1.1	0.41061	D	0.985377	P;P;P	0.44090	0.727;0.826;0.607	B;B;B	0.38020	0.263;0.263;0.135	D	0.86607	0.1870	10	0.40728	T	0.16	-15.3289	19.133	0.93415	0.0:1.0:0.0:0.0	.	244;166;234	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	R	234;166;244	ENSP00000339449:P234R;ENSP00000379521:P166R;ENSP00000299764:P244R	ENSP00000299764:P244R	P	+	2	0	WDR16	9444173	0.988000	0.35896	0.992000	0.48379	0.890000	0.51754	2.761000	0.47589	2.885000	0.99019	0.655000	0.94253	CCC		0.468	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		5	282	0	0	0	0.001984	0	5	282				
MYH13	8735	broad.mit.edu	37	17	10243518	10243518	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10243518T>A	ENST00000418404.3	-	17	2168	c.2005A>T	c.(2005-2007)Acc>Tcc	p.T669S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T669S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	669	Actin-binding. {ECO:0000250}.|Myosin motor.				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.T669S(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						TGAGGGTGGGTGCTCCTTAAG	0.433																																							uc002gmk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2005-2007)ACC>TCC		myosin, heavy polypeptide 13, skeletal muscle							107.0	107.0	107.0					17																	10243518		1932	4153	6085	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10243518T>A	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.2005A>T	17.37:g.10243518T>A	ENSP00000404570:p.Thr669Ser						p.T669S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			18	2095	-			669			Myosin head-like.|Actin-binding (By similarity).		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2005A>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638420	0.87760	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.73789	-0.78	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.87132	0.6101	M	0.88512	2.96	0.45354	D	0.998346	B	0.23128	0.08	P	0.49887	0.625	D	0.88202	0.2884	9	0.87932	D	0	.	13.8522	0.63504	0.0:0.0:0.0:1.0	.	669	Q9UKX3	MYH13_HUMAN	S	669;344	ENSP00000252172:T669S	ENSP00000252172:T669S	T	-	1	0	MYH13	10184243	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	6.102000	0.71486	1.922000	0.55676	0.459000	0.35465	ACC		0.433	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		8	29	0	0	0	0.00308	0	8	29				
MYH2	4620	broad.mit.edu	37	17	10432238	10432238	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10432238C>T	ENST00000245503.5	-	27	3897	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K1171K|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1171					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K1171K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCCGCTTCTTGTTCATCT	0.597																																							uc010coi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3511-3513)AAG>AAA		myosin heavy chain IIa							70.0	79.0	76.0					17																	10432238		2203	4297	6500	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432238C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3513G>A	17.37:g.10432238C>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.K1171K|MYH2_uc010coj.2_Intron	p.K1171K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3641	-			1171			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3513G>A	CCDS11156.1																																																																																				0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	214	0	0	0	0.001984	0	5	214				
MYH3	4621	broad.mit.edu	37	17	10558331	10558331	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10558331G>A	ENST00000583535.1	-	3	138	c.51C>T	c.(49-51)ctC>ctT	p.L17L	MYH3_ENST00000226209.7_Silent_p.L17L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	17					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.L17L(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						CTGACTTCCGGAGGAAAGGAG	0.537																																							uc002gmq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(49-51)CTC>CTT		myosin, heavy chain 3, skeletal muscle,							137.0	126.0	130.0					17																	10558331		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.chr17:10558331G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.51C>T	17.37:g.10558331G>A							p.L17L	NM_002470	NP_002461	P11055	MYH3_HUMAN			2	128	-			17			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.51C>T	CCDS11157.1																																																																																				0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		17	193	0	0	0	0.008871	0	17	193				
MYOCD	93649	broad.mit.edu	37	17	12666523	12666523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:12666523G>T	ENST00000343344.4	+	13	2379	c.2379G>T	c.(2377-2379)caG>caT	p.Q793H	MYOCD_ENST00000425538.1_Missense_Mutation_p.Q841H|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	793					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q793H(1)|p.Q841H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGCAGCCAGATCCCCTTTG	0.493																																							uc002gnn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2377-2379)CAG>CAT		myocardin isoform 2							101.0	98.0	99.0					17																	12666523		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666523G>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2379G>T	17.37:g.12666523G>T	ENSP00000341835:p.Gln793His					MYOCD_uc002gno.2_Missense_Mutation_p.Q841H|MYOCD_uc002gnq.2_Missense_Mutation_p.Q517H	p.Q793H	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2678	+			793					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2379G>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736489	0.15574	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.49139	0.79;0.83	6.08	1.88	0.25563	.	0.233115	0.37761	N	0.001958	T	0.36963	0.0986	L	0.55834	1.745	0.80722	D	1	B;B;B	0.22983	0.047;0.078;0.021	B;B;B	0.19946	0.018;0.027;0.018	T	0.11275	-1.0594	10	0.30854	T	0.27	-24.1157	6.6114	0.22753	0.2701:0.1169:0.613:0.0	.	517;841;793	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	H	517;841;793;503	ENSP00000341835:Q793H;ENSP00000400148:Q503H	ENSP00000341835:Q793H	Q	+	3	2	MYOCD	12607248	1.000000	0.71417	0.141000	0.22245	0.115000	0.19883	2.388000	0.44398	0.469000	0.27268	-0.136000	0.14681	CAG		0.493	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		41	110	1	0	1.82294e-38	0.00361	3.02124e-38	41	110				
TVP23C	201158	broad.mit.edu	37	17	15406280	15406280	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:15406280G>A	ENST00000225576.3	-	6	824	c.729C>T	c.(727-729)ctC>ctT	p.L243L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	243						integral component of membrane (GO:0016021)		p.L243L(1)									GCCGCAAGGAGAGAAATAGGC	0.592																																							uc002goq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)CTC>CTT		hypothetical protein LOC201158 isoform 1							23.0	29.0	27.0					17																	15406280		2203	4300	6503	SO:0001819	synonymous_variant	201158					integral to membrane		g.chr17:15406280G>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.729C>T	17.37:g.15406280G>A						CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron	p.L243L	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)	6	912	-			243					Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.729C>T	CCDS11170.1																																																																																				0.592	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		3	30	0	0	0	0.004672	0	3	30				
TRPV2	51393	broad.mit.edu	37	17	16326837	16326837	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:16326837A>G	ENST00000338560.7	+	5	1079	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	227	Required for interaction with SLC50A1. {ECO:0000250}.				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.Y227C(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)		GTGGTAAGCTACCTCCTGGAG	0.612																																							uc002gpy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)TAC>TGC		transient receptor potential cation channel,							58.0	53.0	54.0					17																	16326837		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16326837A>G	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.680A>G	17.37:g.16326837A>G	ENSP00000342222:p.Tyr227Cys					TRPV2_uc002gpz.2_Intron	p.Y227C	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	1047	+			227			Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.680A>G	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453353	0.63290	.	.	ENSG00000187688	ENST00000338560	T	0.65916	-0.18	6.17	3.81	0.43845	Ankyrin repeat-containing domain (4);	0.159198	0.56097	D	0.000021	T	0.66752	0.2821	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66783	-0.5836	10	0.59425	D	0.04	-21.7344	7.8808	0.29621	0.6624:0.1204:0.0:0.2172	.	227	Q9Y5S1	TRPV2_HUMAN	C	227	ENSP00000342222:Y227C	ENSP00000342222:Y227C	Y	+	2	0	TRPV2	16267562	0.996000	0.38824	0.999000	0.59377	0.955000	0.61496	1.900000	0.39828	1.116000	0.41820	0.533000	0.62120	TAC		0.612	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		3	37	0	0	0	0.004672	0	3	37				
UBBP4	23666	broad.mit.edu	37	17	21731297	21731297	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:21731297G>A	ENST00000584755.1	+	2	996	c.599G>A	c.(598-600)aGc>aAc	p.S200N	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.S200N(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TTGCAGGCAAGCAGCTGGAAG	0.527																																							uc002gyy.3		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(598-600)AGC>AAC		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731297G>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.599G>A	17.37:g.21731297G>A	ENSP00000463647:p.Ser200Asn						p.S200N							2	724	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.599G>A																																																																																					0.527	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			29	79	0	0	0	0.009535	0	29	79				
RPL23A	6147	broad.mit.edu	37	17	27050643	27050643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:27050643G>T	ENST00000422514.2	+	4	1054	c.441G>T	c.(439-441)ttG>ttT	p.L147F	RPL23A_ENST00000472628.1_Missense_Mutation_p.L61F|SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD4A_ENST00000459174.1_RNA|RPL23A_ENST00000394938.4_Missense_Mutation_p.L185F|RPL23A_ENST00000496182.1_Missense_Mutation_p.L61F	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	147					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.L147F(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					ACGATGCTTTGGATGTTGCCA	0.498																																							uc002hci.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)TTG>TTT		ribosomal protein L23a							199.0	187.0	191.0					17																	27050643		2203	4300	6503	SO:0001583	missense	6147				cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr17:27050643G>T	U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"""L ribosomal proteins"""	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.441G>T	17.37:g.27050643G>T	ENSP00000389103:p.Leu147Phe					RPL23A_uc002hck.1_RNA|SNORD4B_uc002hcn.1_5'Flank	p.L147F	NM_000984	NP_000975	P62750	RL23A_HUMAN			4	465	+	Lung NSC(42;0.00431)		147					B2R5B2|P29316|P39024|Q92774	Missense_Mutation	SNP	ENST00000422514.2	37	c.441G>T	CCDS11241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.724594|3.724594	0.68959|0.68959	.|.	.|.	ENSG00000198242|ENSG00000198242	ENST00000422514;ENST00000394938;ENST00000394935|ENST00000355731	T;T|.	0.47869|.	0.83;0.83|.	5.27|5.27	2.83|2.83	0.33086|0.33086	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);Ribosomal protein L23/L25, conserved site (1);|.	0.000000|.	0.29286|.	U|.	0.012595|.	T|T	0.76814|0.76814	0.4040|0.4040	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.55345|.	0.774|.	T|T	0.76479|0.76479	-0.2944|-0.2944	10|5	0.72032|.	D|.	0.01|.	-15.7037|-15.7037	9.0051|9.0051	0.36106|0.36106	0.2119:0.0:0.7881:0.0|0.2119:0.0:0.7881:0.0	.|.	147|.	P62750|.	RL23A_HUMAN|.	F|L	147;185;149|149	ENSP00000389103:L147F;ENSP00000378396:L185F|.	ENSP00000378393:L149F|.	L|W	+|+	3|2	2|0	RPL23A|RPL23A	24074770|24074770	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.789000|0.789000	0.44602|0.44602	2.976000|2.976000	0.49289|0.49289	0.363000|0.363000	0.24346|0.24346	0.462000|0.462000	0.41574|0.41574	TTG|TGG		0.498	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255975.1	NM_000984		7	284	1	0	2.7689e-08	0.001984	3.53762e-08	7	284				
SLC35G3	146861	broad.mit.edu	37	17	33521019	33521019	+	Missense_Mutation	SNP	C	C	A	rs148354465		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:33521019C>A	ENST00000297307.5	-	1	393	c.308G>T	c.(307-309)cGg>cTg	p.R103L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	103	EamA 1.					integral component of membrane (GO:0016021)		p.R103L(1)									GAAGAAGGCCCGGCTTCGGAT	0.592																																							uc002hjd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(307-309)CGG>CTG		acyl-malonyl condensing enzyme 1							128.0	134.0	132.0					17																	33521019		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521019C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.308G>T	17.37:g.33521019C>A	ENSP00000297307:p.Arg103Leu						p.R103L	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	394	-			103			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.308G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589143	0.28357	.	.	ENSG00000164729	ENST00000297307	T	0.37915	1.17	.	.	.	.	0.244821	0.21560	N	0.072582	T	0.21509	0.0518	L	0.32530	0.975	0.49130	D	0.999755	B	0.32620	0.378	B	0.35353	0.201	T	0.06092	-1.0846	9	0.11485	T	0.65	-0.4591	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	103	Q8N808	S35G3_HUMAN	L	103	ENSP00000297307:R103L	ENSP00000297307:R103L	R	-	2	0	SLC35G3	30545132	0.713000	0.27926	0.130000	0.21974	0.130000	0.20726	3.560000	0.53763	0.064000	0.16427	0.064000	0.15345	CGG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		35	204	1	0	1.36615e-20	0.002836	2.12312e-20	35	204				
GPR179	440435	broad.mit.edu	37	17	36499029	36499029	+	Missense_Mutation	SNP	G	G	T	rs373846829		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:36499029G>T	ENST00000342292.4	-	1	664	c.644C>A	c.(643-645)cCg>cAg	p.P215Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	215					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P215Q(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCTGCCTGCGGCCACTTGGG	0.627																																							uc002hpz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(643-645)CCG>CAG		GPR158-like 1 precursor							79.0	86.0	83.0					17																	36499029		2049	4179	6228	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499029G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.644C>A	17.37:g.36499029G>T	ENSP00000345060:p.Pro215Gln						p.P215Q	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			1	665	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	215			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.644C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999985	0.35320	.	.	ENSG00000188888	ENST00000342292	T	0.51325	0.71	4.95	3.96	0.45880	.	0.297346	0.30235	N	0.010093	T	0.55049	0.1896	M	0.65975	2.015	0.24520	N	0.99417	D	0.55800	0.973	P	0.50352	0.638	T	0.53961	-0.8364	10	0.66056	D	0.02	-4.3272	13.1032	0.59233	0.0:0.4372:0.5628:0.0	.	215	Q6PRD1	GP179_HUMAN	Q	215	ENSP00000345060:P215Q	ENSP00000345060:P215Q	P	-	2	0	GPR179	33752555	0.992000	0.36948	0.899000	0.35326	0.457000	0.32468	2.019000	0.41001	1.424000	0.47217	0.655000	0.94253	CCG		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			30	84	1	0	9.39024e-22	0.009718	1.47628e-21	30	84				
SRCIN1	80725	broad.mit.edu	37	17	36708820	36708820	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:36708820C>A	ENST00000264659.7	-	13	2567	c.2343G>T	c.(2341-2343)ccG>ccT	p.P781P	SRCIN1_ENST00000578925.1_Silent_p.P815P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	653					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.P781P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTGCAGGCCCGGGAAGTGAG	0.647																																							uc002hqd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2341-2343)CCG>CCT		SNAP25-interacting protein							21.0	24.0	23.0					17																	36708820		2160	4266	6426	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708820C>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2343G>T	17.37:g.36708820C>A						SRCIN1_uc002hqf.1_Silent_p.P653P|SRCIN1_uc002hqe.2_Silent_p.P635P|SRCIN1_uc002hqg.2_Silent_p.P87P	p.P781P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			13	2568	-			653					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.2343G>T	CCDS45660.1																																																																																				0.647	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		3	19	1	0	0.004672	0.004672	0.00496531	3	19				
ACLY	47	broad.mit.edu	37	17	40063719	40063719	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:40063719G>A	ENST00000352035.2	-	7	853	c.723C>T	c.(721-723)ccC>ccT	p.P241P	ACLY_ENST00000590151.1_Silent_p.P241P|ACLY_ENST00000393896.2_Silent_p.P241P|ACLY_ENST00000353196.1_Silent_p.P241P|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	241	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.P241P(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGCCCGAAGGGGGGAGGGA	0.577																																					Colon(64;807 1396 15971 30971)	Colon(64;807 1396 15971 30971)	uc002hyg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(721-723)CCC>CCT		ATP citrate lyase isoform 1							79.0	77.0	77.0					17																	40063719		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40063719G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.723C>T	17.37:g.40063719G>A						ACLY_uc002hyh.2_Silent_p.P241P|ACLY_uc002hyi.2_Silent_p.P295P|ACLY_uc010wfx.1_Silent_p.P295P|ACLY_uc010wfy.1_Intron	p.P241P	NM_001096	NP_001087	P53396	ACLY_HUMAN			7	886	-		Breast(137;0.000143)	241					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.723C>T	CCDS11412.1																																																																																				0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		35	95	0	0	0	0.004878	0	35	95				
DBF4B	80174	broad.mit.edu	37	17	42828116	42828116	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:42828116C>A	ENST00000315005.3	+	14	1481	c.1343C>A	c.(1342-1344)cCa>cAa	p.P448Q	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	448					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.P448Q(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCCCTGCCCAGCCTCCTTT	0.622																																							uc002ihf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)CCA>CAA		DBF4 homolog B isoform 1							65.0	58.0	60.0					17																	42828116		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828116C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1343C>A	17.37:g.42828116C>A	ENSP00000323663:p.Pro448Gln					DBF4B_uc010wjc.1_Intron	p.P448Q	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1556	+		Prostate(33;0.0322)	448					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1343C>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233182	0.39498	.	.	ENSG00000161692	ENST00000315005	T	0.57273	0.41	1.5	0.43	0.16515	.	49.320000	0.00166	N	0.000002	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	B	0.31910	0.346	B	0.20955	0.032	T	0.12218	-1.0556	9	.	.	.	.	3.4108	0.07357	0.0:0.7006:0.0:0.2994	.	448	Q8NFT6	DBF4B_HUMAN	Q	448	ENSP00000323663:P448Q	.	P	+	2	0	DBF4B	40183642	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.149000	0.10204	0.155000	0.19261	0.462000	0.41574	CCA		0.622	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		27	54	1	0	1.7881e-09	0.008361	2.3708e-09	27	54				
IGF2BP1	10642	broad.mit.edu	37	17	47075138	47075138	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:47075138G>A	ENST00000290341.3	+	1	365	c.31G>A	c.(31-33)Gag>Aag	p.E11K	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E11K|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	11	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.E11K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACCTCAACGAGAGCGTGAC	0.637																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(31-33)GAG>AAG		insulin-like growth factor 2 mRNA binding							88.0	83.0	84.0					17																	47075138		2203	4300	6503	SO:0001583	missense	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.chr17:47075138G>A	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.31G>A	17.37:g.47075138G>A	ENSP00000290341:p.Glu11Lys					IGF2BP1_uc010dbj.2_Missense_Mutation_p.E11K	p.E11K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			1	365	+			11			RRM 1.		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.31G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850273	0.91277	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.08193	3.12;3.12	4.94	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.070243	0.56097	D	0.000030	T	0.07728	0.0194	L	0.31926	0.97	0.36126	D	0.845783	P;P	0.47604	0.898;0.769	B;B	0.40199	0.197;0.322	T	0.38564	-0.9655	10	0.10636	T	0.68	-29.5529	18.1251	0.89583	0.0:0.0:1.0:0.0	.	11;11	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	11	ENSP00000290341:E11K;ENSP00000389135:E11K	ENSP00000290341:E11K	E	+	1	0	IGF2BP1	44430137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.323000	0.96364	2.434000	0.82447	0.650000	0.86243	GAG		0.637	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		39	98	0	0	0	0.00623	0	39	98				
SPAG9	9043	broad.mit.edu	37	17	49072464	49072464	+	Missense_Mutation	SNP	C	C	G	rs201501137	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:49072464C>G	ENST00000262013.7	-	18	2388	c.2180G>C	c.(2179-2181)cGa>cCa	p.R727P	SPAG9_ENST00000357122.4_Missense_Mutation_p.R713P|SPAG9_ENST00000510283.1_Missense_Mutation_p.R570P|SPAG9_ENST00000505279.1_Missense_Mutation_p.R717P	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	727					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R713P(1)|p.R713Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGAGGCACTTCGCTGTTTACT	0.398																																							uc002itc.2		NA																	2	Substitution - Missense(2)	p.L727L(1)	prostate(1)|lung(1)	lung(4)|breast(1)	5						c.(2179-2181)CGA>CCA		sperm associated antigen 9 isoform 1							166.0	143.0	151.0					17																	49072464		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49072464C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2180G>C	17.37:g.49072464C>G	ENSP00000262013:p.Arg727Pro					SPAG9_uc002itb.2_Missense_Mutation_p.R713P|SPAG9_uc002itd.2_Missense_Mutation_p.R717P|SPAG9_uc002itf.2_Missense_Mutation_p.R548P|SPAG9_uc002ita.2_Missense_Mutation_p.R570P|SPAG9_uc002ite.2_Missense_Mutation_p.R557P	p.R727P	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		18	2389	-			727			Potential.		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2180G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	8.978	0.974636	0.18736	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.59	5.59	0.84812	.	0.126119	0.53938	D	0.000055	T	0.24967	0.0606	N	0.17723	0.515	0.49798	D	0.999825	P;B;B;B;P;P	0.42735	0.777;0.002;0.001;0.0;0.777;0.788	P;B;B;B;B;P	0.48627	0.584;0.009;0.005;0.002;0.379;0.451	T	0.01909	-1.1249	10	0.27082	T	0.32	-10.1842	14.772	0.69688	0.0:0.9289:0.0:0.0711	.	713;727;717;727;713;570	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	P	727;484;474;264;570;717;713;325	ENSP00000262013:R727P;ENSP00000423165:R570P;ENSP00000426900:R717P;ENSP00000349636:R713P	ENSP00000262013:R727P	R	-	2	0	SPAG9	46427463	0.015000	0.18098	0.996000	0.52242	0.975000	0.68041	0.232000	0.17891	2.621000	0.88768	0.591000	0.81541	CGA		0.398	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		54	120	0	0	0	0.00361	0	54	120				
C17orf67	339210	broad.mit.edu	37	17	54892331	54892331	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:54892331C>T	ENST00000575658.1	-	6	1334		c.e6-1		C17orf67_ENST00000397862.2_Splice_Site|C17orf67_ENST00000397861.2_Splice_Site	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region (GO:0005576)		p.?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GGGGAGGTCTCTGGAAAAGTC	0.502																																							uc010dci.2		NA																	1	Unknown(1)		lung(1)		0						c.e2-1		hypothetical protein LOC339210 precursor							201.0	202.0	202.0					17																	54892331		1887	4109	5996	SO:0001630	splice_region_variant	339210					extracellular region		g.chr17:54892331C>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.128-1G>A	17.37:g.54892331C>T						C17orf67_uc002iuq.2_Splice_Site	p.E43_splice	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN			2	135	-	Breast(9;2.49e-06)								Splice_Site	SNP	ENST00000575658.1	37	c.128_splice		.	.	.	.	.	.	.	.	.	.	C	12.21	1.870415	0.33069	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.986	0.89156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf67	52247330	1.000000	0.71417	0.999000	0.59377	0.316000	0.28119	4.971000	0.63749	2.307000	0.77673	0.205000	0.17691	.		0.502	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430	Intron	14	506	0	0	0	0.001855	0	14	506				
MRC2	9902	broad.mit.edu	37	17	60768328	60768328	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:60768328A>T	ENST00000303375.5	+	28	4433	c.4031A>T	c.(4030-4032)cAg>cTg	p.Q1344L	MRC2_ENST00000446119.2_Missense_Mutation_p.Q210L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1344	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.Q1344L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGTCTGGCAGGACAACACA	0.607																																							uc002jad.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4030-4032)CAG>CTG		mannose receptor, C type 2							18.0	19.0	18.0					17																	60768328		2202	4296	6498	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60768328A>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.4031A>T	17.37:g.60768328A>T	ENSP00000307513:p.Gln1344Leu					MRC2_uc002jae.2_Missense_Mutation_p.Q415L|MRC2_uc002jaf.2_Missense_Mutation_p.Q210L	p.Q1344L	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			28	4433	+			1344			Extracellular (Potential).|C-type lectin 8.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.4031A>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	A	4.803	0.149261	0.09185	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.06528	3.29;3.29	4.04	4.04	0.47022	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.542230	0.19487	N	0.113084	T	0.02767	0.0083	N	0.02315	-0.6	0.29544	N	0.851856	P;B	0.37122	0.583;0.229	B;B	0.36885	0.235;0.163	T	0.35475	-0.9787	10	0.11182	T	0.66	-7.161	13.1699	0.59591	1.0:0.0:0.0:0.0	.	210;1344	E7EME3;Q9UBG0	.;MRC2_HUMAN	L	1344;210	ENSP00000307513:Q1344L;ENSP00000400445:Q210L	ENSP00000307513:Q1344L	Q	+	2	0	MRC2	58122060	0.792000	0.28813	0.999000	0.59377	0.978000	0.69477	1.704000	0.37857	1.703000	0.51240	0.459000	0.35465	CAG		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			7	18	0	0	0	0.004482	0	7	18				
ACE	1636	broad.mit.edu	37	17	61566371	61566371	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:61566371G>C	ENST00000290866.4	+	17	2543	c.2519G>C	c.(2518-2520)cGg>cCg	p.R840P	ACE_ENST00000490216.2_Missense_Mutation_p.R266P|ACE_ENST00000413513.3_Missense_Mutation_p.R266P|ACE_ENST00000290863.6_Missense_Mutation_p.R266P|ACE_ENST00000421982.2_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R840P|ACE_ENST00000577647.1_Missense_Mutation_p.R266P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	840	Peptidase M2 2.				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.R840P(1)|p.R266P(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)	GACCTGGAGCGGCTCTTCCAG	0.622																																							uc002jau.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2518-2520)CGG>CCG		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)						69.0	65.0	67.0					17																	61566371		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.chr17:61566371G>C	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.2519G>C	17.37:g.61566371G>C	ENSP00000290866:p.Arg840Pro					ACE_uc002jav.1_Missense_Mutation_p.R266P|ACE_uc010ddv.1_Missense_Mutation_p.R67P|ACE_uc010wpj.1_Missense_Mutation_p.R266P|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	p.R840P	NM_000789	NP_000780	P12821	ACE_HUMAN			17	2541	+			840			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2519G>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262892	0.10294	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.84	-3.65	0.04502	.	1.214870	0.05336	N	0.529184	T	0.50411	0.1614	M	0.87456	2.885	0.09310	N	1	P;P;P	0.43392	0.805;0.756;0.582	P;P;B	0.48704	0.587;0.574;0.262	T	0.54957	-0.8215	10	0.37606	T	0.19	-7.9873	8.9421	0.35736	0.3568:0.0:0.5232:0.12	.	266;266;840	B4DXI3;P12821-3;P12821	.;.;ACE_HUMAN	P	840;840;266;266	ENSP00000290866:R840P;ENSP00000397593:R840P;ENSP00000290863:R266P;ENSP00000392247:R266P	ENSP00000290863:R266P	R	+	2	0	ACE	58920103	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.377000	0.07456	-0.773000	0.04596	-0.367000	0.07326	CGG		0.622	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			20	46	0	0	0	0.010504	0	20	46				
LRRC37A3	374819	broad.mit.edu	37	17	62855619	62855619	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:62855619C>G	ENST00000584306.1	-	11	5175	c.4645G>C	c.(4645-4647)Gag>Cag	p.E1549Q	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E587Q|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1549Q|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E667Q|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E526Q	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1549						integral component of membrane (GO:0016021)		p.E1549Q(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGTAGTTCTCAGTCTTCCAT	0.488																																							uc002jey.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4645-4647)GAG>CAG		leucine rich repeat containing 37, member A3							153.0	159.0	157.0					17																	62855619		2196	4281	6477	SO:0001583	missense	374819					integral to membrane		g.chr17:62855619C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4645G>C	17.37:g.62855619C>G	ENSP00000464535:p.Glu1549Gln					LRRC37A3_uc010wqg.1_Missense_Mutation_p.E667Q|LRRC37A3_uc002jex.1_Missense_Mutation_p.E526Q|LRRC37A3_uc010wqf.1_Missense_Mutation_p.E587Q|LRRC37A3_uc010dek.1_Missense_Mutation_p.E555Q	p.E1549Q	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	5176	-			1549			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4645G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.233391	0.39498	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.57273	0.41;0.41;0.41	2.39	2.39	0.29439	.	.	.	.	.	T	0.59689	0.2212	M	0.72118	2.19	0.20821	N	0.999842	D;P	0.56746	0.977;0.629	P;B	0.52514	0.701;0.102	T	0.50816	-0.8783	9	0.72032	D	0.01	.	8.3181	0.32113	0.0:1.0:0.0:0.0	.	667;1549	B4DG20;O60309	.;L37A3_HUMAN	Q	630;587;526;1549	ENSP00000383674:E587Q;ENSP00000335617:E526Q;ENSP00000325713:E1549Q	ENSP00000325713:E1549Q	E	-	1	0	LRRC37A3	60286081	0.023000	0.18921	0.129000	0.21949	0.010000	0.07245	1.809000	0.38922	1.336000	0.45506	0.184000	0.17185	GAG		0.488	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		11	463	0	0	0	0.00245	0	11	463				
GNA13	10672	broad.mit.edu	37	17	63049634	63049634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:63049634G>A	ENST00000439174.2	-	2	741	c.496C>T	c.(496-498)Cga>Tga	p.R166*	RP11-583F2.5_ENST00000581796.1_RNA|GNA13_ENST00000541118.1_Nonsense_Mutation_p.R71*	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	166					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.R166*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TGAAATTCTCGACGCCGGTCA	0.403																																							uc002jfc.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(496-498)CGA>TGA		guanine nucleotide binding protein (G protein),							79.0	84.0	82.0					17																	63049634		2203	4300	6503	SO:0001587	stop_gained	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049634G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.496C>T	17.37:g.63049634G>A	ENSP00000400717:p.Arg166*					GNA13_uc010wqh.1_Nonsense_Mutation_p.R71*	p.R166*	NM_006572	NP_006563	Q14344	GNA13_HUMAN			2	705	-			166					B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	ENST00000439174.2	37	c.496C>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	G	37	6.040559	0.97226	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.04	0.64669	0.0:0.0:0.8119:0.1881	.	.	.	.	X	166;71;141	.	ENSP00000239138:R141X	R	-	1	2	GNA13	60480096	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.883000	0.39658	2.542000	0.85734	0.655000	0.94253	CGA		0.403	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		21	95	0	0	0	0.010504	0	21	95				
AXIN2	8313	broad.mit.edu	37	17	63554271	63554271	+	Nonsense_Mutation	SNP	G	G	T	rs62640025		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:63554271G>T	ENST00000375702.5	-	1	576	c.468C>A	c.(466-468)taC>taA	p.Y156*	AXIN2_ENST00000307078.5_Nonsense_Mutation_p.Y156*|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	156	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.Y156*(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CATCTCTTATGTAGGTCTTGG	0.468									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																														uc002jfi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(466-468)TAC>TAA		axin 2							236.0	208.0	218.0					17																	63554271		2203	4300	6503	SO:0001587	stop_gained	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554271G>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.468C>A	17.37:g.63554271G>T	ENSP00000364854:p.Tyr156*					AXIN2_uc010den.1_Nonsense_Mutation_p.Y156*|AXIN2_uc002jfh.2_Nonsense_Mutation_p.Y156*|AXIN2_uc002jfj.1_Nonsense_Mutation_p.Y156*	p.Y156*	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	757	-			156			RGS.		Q3MJ88|Q9H3M6|Q9UH84	Nonsense_Mutation	SNP	ENST00000375702.5	37	c.468C>A		.	.	.	.	.	.	.	.	.	.	G	37	6.426364	0.97559	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	.	.	.	4.59	2.55	0.30701	.	0.176078	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-22.6279	10.7533	0.46221	0.1585:0.0:0.8415:0.0	.	.	.	.	X	156	.	ENSP00000302625:Y156X	Y	-	3	2	AXIN2	60984733	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.042000	0.57347	0.914000	0.36822	0.455000	0.32223	TAC		0.468	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		77	128	1	0	4.78148e-37	0.00361	7.89695e-37	77	128				
PRKCA	5578	broad.mit.edu	37	17	64684432	64684432	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:64684432T>C	ENST00000413366.3	+	7	725	c.699T>C	c.(697-699)ccT>ccC	p.P233P		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	233	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.P233P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AATTGAAACCTTCAGACAAAG	0.443																																							uc002jfp.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(697-699)CCT>CCC		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						132.0	125.0	127.0					17																	64684432		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684432T>C		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.699T>C	17.37:g.64684432T>C						PRKCA_uc002jfo.1_Silent_p.P104P	p.P233P	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	743	+			233			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.699T>C	CCDS11664.1																																																																																				0.443	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			20	137	0	0	0	0.010504	0	20	137				
ABCA10	10349	broad.mit.edu	37	17	67178860	67178860	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:67178860C>A	ENST00000269081.4	-	22	3496	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	863					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D863Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAGGAGGGATCATCTGAGCCA	0.373																																							uc010dfa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2587-2589)GAT>TAT		ATP-binding cassette, sub-family A, member 10							156.0	160.0	159.0					17																	67178860		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67178860C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2587G>T	17.37:g.67178860C>A	ENSP00000269081:p.Asp863Tyr					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.D464Y	p.D863Y	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			22	3466	-	Breast(10;6.95e-12)		863					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2587G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349719	0.24426	.	.	ENSG00000154263	ENST00000269081	D	0.87256	-2.23	2.94	1.91	0.25777	.	0.000000	0.33309	U	0.005059	D	0.90597	0.7052	M	0.76838	2.35	0.09310	N	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.981	T	0.80885	-0.1182	10	0.62326	D	0.03	.	3.7075	0.08407	0.0:0.5434:0.2071:0.2495	.	863;863	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	Y	863	ENSP00000269081:D863Y	ENSP00000269081:D863Y	D	-	1	0	ABCA10	64690455	0.000000	0.05858	0.003000	0.11579	0.849000	0.48306	-0.117000	0.10708	0.529000	0.28599	0.411000	0.27672	GAT		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		39	241	1	0	5.73237e-09	0.00623	7.46468e-09	39	241				
CD300LF	146722	broad.mit.edu	37	17	72700714	72700714	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:72700714C>T	ENST00000326165.6	-	2	396	c.285G>A	c.(283-285)atG>atA	p.M95I	CD300LF_ENST00000581500.1_Missense_Mutation_p.M98I|CD300LF_ENST00000343125.4_Missense_Mutation_p.M98I|CD300LF_ENST00000469092.1_Missense_Mutation_p.M98I|CD300LF_ENST00000583937.1_Missense_Mutation_p.M95I|CD300LF_ENST00000464910.1_Missense_Mutation_p.M98I|CD300LF_ENST00000361254.4_Missense_Mutation_p.M98I|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.M95I|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	95	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M95I(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGAGATCCTCCATGGTCACAG	0.483																																							uc002jlg.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(283-285)ATG>ATA		NK inhibitory receptor precursor							305.0	255.0	272.0					17																	72700714		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700714C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.285G>A	17.37:g.72700714C>T	ENSP00000327075:p.Met95Ile					RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.M98I|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.M95I|CD300LF_uc002jli.2_Missense_Mutation_p.M98I|CD300LF_uc010wra.1_Missense_Mutation_p.M95I|CD300LF_uc002jlj.1_Missense_Mutation_p.M98I	p.M95I	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			2	388	-			95			Ig-like V-type.|Extracellular (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.285G>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412450	0.42817	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.29	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.302208	0.28442	N	0.015334	T	0.50411	0.1614	M	0.64080	1.96	0.34119	D	0.663925	P;P;P;P;P;P	0.40834	0.564;0.684;0.509;0.684;0.73;0.509	B;P;P;P;B;P	0.46659	0.399;0.492;0.449;0.492;0.399;0.523	T	0.65780	-0.6085	10	0.72032	D	0.01	.	8.8077	0.34948	0.0:0.842:0.0:0.158	.	95;98;98;95;95;98	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	I	95;98;98;95	ENSP00000301573:M95I;ENSP00000355294:M98I;ENSP00000343751:M98I;ENSP00000327075:M95I	ENSP00000301573:M95I	M	-	3	0	CD300LF	70212309	0.801000	0.28930	0.990000	0.47175	0.193000	0.23685	1.319000	0.33655	2.630000	0.89119	0.655000	0.94253	ATG		0.483	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		57	277	0	0	0	0.00361	0	57	277				
GRB2	2885	broad.mit.edu	37	17	73317748	73317748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:73317748C>A	ENST00000392562.1	-	5	1242	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	GRB2_ENST00000392564.1_Missense_Mutation_p.V154L|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316804.5_Missense_Mutation_p.V154L|GRB2_ENST00000392563.1_Missense_Mutation_p.V113L|GRB2_ENST00000316615.5_Missense_Mutation_p.V113L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	154					aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.V154L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	ACCTGTGGCACCTGTTCTATG	0.478																																							uc002jnx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(460-462)GTG>TTG		growth factor receptor-bound protein 2 isoform	Pegademase bovine(DB00061)						102.0	99.0	100.0					17																	73317748		2203	4300	6503	SO:0001583	missense	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73317748C>A		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.460G>T	17.37:g.73317748C>A	ENSP00000376345:p.Val154Leu					GRB2_uc002jny.3_Missense_Mutation_p.V113L	p.V154L	NM_002086	NP_002077	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		5	817	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		154					P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	c.460G>T	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182772	0.38511	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.7	3.68	0.42216	SH2 motif (1);	0.058193	0.64402	D	0.000002	T	0.20333	0.0489	N	0.03608	-0.345	0.47659	D	0.999482	B;B	0.14438	0.01;0.0	B;B	0.10450	0.005;0.0	T	0.04440	-1.0951	10	0.28530	T	0.3	-14.3944	12.1883	0.54252	0.0:0.8609:0.0:0.1391	.	113;154	P62993-2;P62993	.;GRB2_HUMAN	L	154;154;154;113;113	ENSP00000339007:V154L;ENSP00000376345:V154L;ENSP00000376347:V154L;ENSP00000376346:V113L;ENSP00000317360:V113L	ENSP00000317360:V113L	V	-	1	0	GRB2	70829343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.650000	0.46665	1.394000	0.46624	0.650000	0.86243	GTG		0.478	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			13	96	1	0	1.3612e-06	0.003163	1.64594e-06	13	96				
GALR2	8811	broad.mit.edu	37	17	74071267	74071267	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:74071267G>T	ENST00000329003.3	+	1	393	c.303G>T	c.(301-303)gtG>gtT	p.V101V	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	101					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)	p.V101V(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCAAGGCGGTGCACTTCCTCA	0.657																																							uc002jqm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)GTG>GTT		galanin receptor 2							102.0	72.0	82.0					17																	74071267		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071267G>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.303G>T	17.37:g.74071267G>T						SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	p.V101V	NM_003857	NP_003848	O43603	GALR2_HUMAN			1	384	+			101			Helical; Name=3; (Potential).		A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.303G>T	CCDS11739.1																																																																																				0.657	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			37	46	1	0	5.43694e-19	0.005524	8.29986e-19	37	46				
SEC14L1	6397	broad.mit.edu	37	17	75196633	75196633	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:75196633A>G	ENST00000413679.2	+	9	1190	c.887A>G	c.(886-888)gAg>gGg	p.E296G	SEC14L1_ENST00000591437.1_Missense_Mutation_p.E262G|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E296G|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E262G|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E296G|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E296G	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	296					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E296G(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAAGCCAGAGAGATCATGTGT	0.433																																							uc002jto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(886-888)GAG>GGG		SEC14 (S. cerevisiae)-like 1 isoform a							144.0	140.0	141.0					17																	75196633		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75196633A>G	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.887A>G	17.37:g.75196633A>G	ENSP00000394716:p.Glu296Gly					SEC14L1_uc010dhc.2_Missense_Mutation_p.E296G|SEC14L1_uc010wth.1_Missense_Mutation_p.E296G|SEC14L1_uc002jtm.2_Missense_Mutation_p.E296G|SEC14L1_uc010wti.1_Missense_Mutation_p.E262G	p.E296G	NM_003003	NP_002994	Q92503	S14L1_HUMAN			9	1154	+			296					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.887A>G	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757111	0.89843	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.41	5.41	0.78517	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90010	0.6881	M	0.81179	2.53	0.80722	D	1	B;B	0.33044	0.343;0.395	B;B	0.41813	0.367;0.366	D	0.90067	0.4160	10	0.54805	T	0.06	-50.7246	14.9216	0.70843	1.0:0.0:0.0:0.0	.	296;296	Q92503-2;Q92503	.;S14L1_HUMAN	G	296;296;296;296;296;262	ENSP00000376268:E296G;ENSP00000406030:E296G;ENSP00000390392:E296G;ENSP00000408169:E296G;ENSP00000394716:E296G;ENSP00000389838:E262G	ENSP00000376268:E296G	E	+	2	0	SEC14L1	72708228	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.925000	0.92832	2.171000	0.68590	0.533000	0.62120	GAG		0.433	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		12	292	0	0	0	0.00245	0	12	292				
P4HB	5034	broad.mit.edu	37	17	79817264	79817264	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:79817264C>A	ENST00000331483.4	-	2	368		c.e2-1		P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Splice_Site|P4HB_ENST00000576390.1_Splice_Site	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide						cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.?(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CAAGGGGCATCTGGAAGCGGA	0.542																																					Colon(49;444 983 1296 7887 42561)	Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NA																	1	Unknown(1)		lung(1)		0						c.e2-1		prolyl 4-hydroxylase, beta subunit precursor							75.0	72.0	73.0					17																	79817264		2203	4296	6499	SO:0001630	splice_region_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79817264C>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.146-1G>T	17.37:g.79817264C>A						P4HB_uc002kbm.1_Splice_Site	p.Y49_splice	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		2	343	-	all_neural(118;0.0878)|Ovarian(332;0.12)							B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Splice_Site	SNP	ENST00000331483.4	37	c.146_splice	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022564	0.75275	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1123	0.86679	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HB	77410553	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	7.410000	0.80065	2.212000	0.71576	0.561000	0.74099	.		0.542	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	Intron	21	105	1	0	1.2644e-06	0.010504	1.53281e-06	21	105				
EPB41L3	23136	broad.mit.edu	37	18	5397266	5397266	+	Missense_Mutation	SNP	C	C	A	rs140662824		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:5397266C>A	ENST00000341928.2	-	18	2972	c.2632G>T	c.(2632-2634)Ggg>Tgg	p.G878W	EPB41L3_ENST00000542146.1_Missense_Mutation_p.G183W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G175W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G656W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G878W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G656W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G709W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	878	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G878W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGCATCCCCGCTGTCTCCC	0.617																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2632-2634)GGG>TGG		erythrocyte membrane protein band 4.1-like 3							80.0	71.0	74.0					18																	5397266		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397266C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2632G>T	18.37:g.5397266C>A	ENSP00000343158:p.Gly878Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.G709W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G656W|EPB41L3_uc010dkq.1_Missense_Mutation_p.G547W|EPB41L3_uc002kms.1_Missense_Mutation_p.G113W|EPB41L3_uc010wze.1_Missense_Mutation_p.G183W|EPB41L3_uc010wzf.1_Missense_Mutation_p.G175W|EPB41L3_uc010wzg.1_Missense_Mutation_p.G150W|EPB41L3_uc010dkr.2_Missense_Mutation_p.G270W	p.G878W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2718	-			878			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2632G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593689	0.28445	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.73	-2.5	0.06384	.	1.187740	0.05869	N	0.624338	T	0.38134	0.1029	N	0.14661	0.345	0.09310	N	1	D;D;D;P;P;B;P;D	0.65815	0.978;0.995;0.993;0.911;0.563;0.026;0.911;0.993	P;P;D;P;B;B;P;P	0.65233	0.731;0.821;0.933;0.6;0.176;0.022;0.6;0.532	T	0.29058	-1.0024	10	0.66056	D	0.02	.	1.9679	0.03399	0.134:0.2925:0.1348:0.4387	.	709;175;183;270;547;656;878;113	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	W	878;547;709;547;175;183;878;656	ENSP00000343158:G878W;ENSP00000441174:G709W;ENSP00000392195:G175W;ENSP00000442233:G183W;ENSP00000341138:G878W;ENSP00000382981:G656W	ENSP00000343158:G878W	G	-	1	0	EPB41L3	5387266	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.790000	0.04604	-0.349000	0.08274	-0.229000	0.12294	GGG		0.617	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		16	80	1	0	1.67942e-08	0.006122	2.16023e-08	16	80				
EPB41L3	23136	broad.mit.edu	37	18	5489113	5489113	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:5489113C>A	ENST00000341928.2	-	2	410	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	EPB41L3_ENST00000400111.3_Missense_Mutation_p.G24W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G24W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G24W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G24W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	24					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G24W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccctgcgcccccgccgccTCC	0.692																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(70-72)GGG>TGG		erythrocyte membrane protein band 4.1-like 3							18.0	20.0	19.0					18																	5489113		2137	4164	6301	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489113C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.70G>T	18.37:g.5489113C>A	ENSP00000343158:p.Gly24Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.G24W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G24W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.G46W|EPB41L3_uc002kmv.1_5'UTR	p.G24W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	156	-			24					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.70G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044876	0.55110	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	T;D;T;D	0.82619	-1.44;-1.59;-1.44;-1.63	5.58	5.58	0.84498	.	1.127020	0.06400	N	0.718710	D	0.91112	0.7202	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.999;0.998	D;P;D;D	0.80764	0.994;0.873;0.992;0.982	D	0.84038	0.0363	10	0.72032	D	0.01	.	17.332	0.87267	0.0:1.0:0.0:0.0	.	24;24;24;24	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	W	24;24;24;24;105	ENSP00000343158:G24W;ENSP00000441174:G24W;ENSP00000341138:G24W;ENSP00000382981:G24W	ENSP00000343158:G24W	G	-	1	0	EPB41L3	5479113	0.038000	0.19896	0.042000	0.18584	0.009000	0.06853	3.282000	0.51693	2.619000	0.88677	0.563000	0.77884	GGG		0.692	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	21	1	0	9.16793e-09	0.00499	1.18248e-08	12	21				
ROCK1	6093	broad.mit.edu	37	18	18586524	18586524	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:18586524G>A	ENST00000399799.2	-	16	2613	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	558	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S558L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTGTGTCCGATTCTGTCCT	0.358																																							uc002kte.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(1672-1674)TCG>TTG		Rho-associated, coiled-coil containing protein							111.0	96.0	101.0					18																	18586524		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586524G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1673C>T	18.37:g.18586524G>A	ENSP00000382697:p.Ser558Leu						p.S558L	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			16	2614	-	Melanoma(1;0.165)		558			Interaction with FHOD1.|Potential.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1673C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670646	0.88348	.	.	ENSG00000067900	ENST00000399799	T	0.67523	-0.27	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.49350	1.555	0.80722	D	1	B	0.25772	0.134	B	0.21546	0.035	T	0.57412	-0.7816	10	0.28530	T	0.3	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	558	Q13464	ROCK1_HUMAN	L	558	ENSP00000382697:S558L	ENSP00000382697:S558L	S	-	2	0	ROCK1	16840522	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.263000	0.95617	2.832000	0.97577	0.655000	0.94253	TCG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		4	146	0	0	0	0.009096	0	4	146				
CABLES1	91768	broad.mit.edu	37	18	20716572	20716572	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:20716572G>T	ENST00000256925.7	+	1	845		c.e1+1		AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.?(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGGTCCCGGTGAGTATCCG	0.692																																							uc002kuc.2		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e1+1		Cdk5 and Abl enzyme substrate 1 isoform 2							13.0	15.0	14.0					18																	20716572		1918	3988	5906	SO:0001630	splice_region_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716572G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.845+1G>T	18.37:g.20716572G>T						CABLES1_uc002kub.2_Intron	p.R282_splice	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			1	845	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)							B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Splice_Site	SNP	ENST00000256925.7	37	c.845_splice	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970458	0.74246	.	.	ENSG00000134508	ENST00000256925	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1986	0.59754	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CABLES1	18970570	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.958000	0.76025	2.158000	0.67659	0.462000	0.41574	.		0.692	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	Intron	5	16	1	0	1.23904e-05	0.000602	1.44656e-05	5	16				
CELF4	56853	broad.mit.edu	37	18	34854358	34854359	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:34854358_34854359CC>AA	ENST00000591282.1	-	6	715_716	c.716_717GG>TT	c.(715-717)cGG>cTT	p.R239L	CELF4_ENST00000412753.1_Missense_Mutation_p.R239L|CELF4_ENST00000601019.1_Missense_Mutation_p.R238L|RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000420428.2_Missense_Mutation_p.R239L|CELF4_ENST00000603232.1_Missense_Mutation_p.R239L|CELF4_ENST00000591287.1_Missense_Mutation_p.R238L|CELF4_ENST00000334919.5_Missense_Mutation_p.R229L|CELF4_ENST00000361795.5_Missense_Mutation_p.R238L|CELF4_ENST00000588597.1_Missense_Mutation_p.R228L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	239	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R239L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCTGCATTCGCCGCATCGTGCG	0.673																																							uc002lae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(715-717)CGG>CTT		bruno-like 4, RNA binding protein isoform 1																																				SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854358_34854359CC>AA	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.716_717delinsAA	18.37:g.34854358_34854359delinsAA	ENSP00000464794:p.Arg239Leu					CELF4_uc010dnd.1_Missense_Mutation_p.R238L|CELF4_uc002lag.2_Missense_Mutation_p.R229L|CELF4_uc002laf.2_Missense_Mutation_p.R234L|CELF4_uc002lai.2_Missense_Mutation_p.R224L|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75S	p.R239L	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			6	1112_1113	-			239			Sufficient for RNA-binding and MSE- dependent splicing activity.|Necessary for TNNT2 exon 5 inclusion.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	DNP	ENST00000591282.1	37	c.716_717GG>TT	CCDS32818.1																																																																																				0.673	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		6	132	0	0	0	0.004672	0	6	132				
PSTPIP2	9050	broad.mit.edu	37	18	43619913	43619913	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:43619913C>A	ENST00000409746.5	-	2	205	c.134G>T	c.(133-135)aGg>aTg	p.R45M	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Splice_Site_p.R45M	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	45	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.					cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R45M(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						ATCATCGTACCTTTCTTTTAG	0.428																																							uc002lbp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(133-135)AGG>ATG		proline-serine-threonine phosphatase interacting							215.0	177.0	190.0					18																	43619913		2203	4300	6503	SO:0001630	splice_region_variant	9050					membrane		g.chr18:43619913C>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.134+1G>T	18.37:g.43619913C>A						PSTPIP2_uc002lbq.3_Missense_Mutation_p.R45M	p.R45M	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			2	230	-			45			FCH.			Missense_Mutation	SNP	ENST00000409746.5	37	c.134G>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827944	0.50845	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.54071	0.59	4.71	4.71	0.59529	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.90425	3.115	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.82906	-0.0225	9	.	.	.	-16.6471	16.7952	0.85600	0.0:1.0:0.0:0.0	.	45;45	Q9H939-2;Q9H939	.;PPIP2_HUMAN	M	45	ENSP00000387261:R45M	.	R	-	2	0	PSTPIP2	41873911	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	4.247000	0.58750	2.329000	0.79093	0.460000	0.39030	AGG		0.428	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1		Missense_Mutation	24	171	1	0	2.44723e-14	0.004656	3.56919e-14	24	171				
DCC	1630	broad.mit.edu	37	18	50705378	50705378	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:50705378G>T	ENST00000442544.2	+	9	2081	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	DCC_ENST00000412726.1_Missense_Mutation_p.V337L|DCC_ENST00000581580.1_Missense_Mutation_p.V144L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	489	Fibronectin type-III 1. {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.V489L(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)		TCAGCTCACTGTGGGAAACCT	0.478																																							uc002lfe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1465-1467)GTG>TTG		netrin receptor DCC precursor							101.0	91.0	94.0					18																	50705378		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50705378G>T	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.1465G>T	18.37:g.50705378G>T	ENSP00000389140:p.Val489Leu					DCC_uc010xdr.1_Missense_Mutation_p.V337L|DCC_uc010dpf.1_Missense_Mutation_p.V144L	p.V489L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	9	2052	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	489			Extracellular (Potential).|Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1465G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835638	0.50951	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56103	0.48;0.48	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.64327	0.2588	L	0.37850	1.14	0.46336	D	0.998998	P;P;P	0.42337	0.606;0.606;0.776	B;B;P	0.59424	0.438;0.438;0.857	T	0.63107	-0.6711	10	0.59425	D	0.04	.	18.7943	0.91988	0.0:0.0:1.0:0.0	.	337;337;489	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	489;422;337	ENSP00000389140:V489L;ENSP00000397322:V337L	ENSP00000304146:V422L	V	+	1	0	DCC	48959376	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.012000	0.64017	2.809000	0.96659	0.655000	0.94253	GTG		0.478	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		14	58	1	0	0.00316338	0.003163	0.00337712	14	58				
WDR7	23335	broad.mit.edu	37	18	54547264	54547264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:54547264G>C	ENST00000254442.3	+	21	3605	c.3394G>C	c.(3394-3396)Gta>Cta	p.V1132L	WDR7_ENST00000357574.3_Missense_Mutation_p.V1099L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1132					hematopoietic progenitor cell differentiation (GO:0002244)			p.V1132L(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)		TTTACTTGGAGTAATAGGAGC	0.423																																							uc002lgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3394-3396)GTA>CTA		rabconnectin-3 beta isoform 1							88.0	81.0	83.0					18																	54547264		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54547264G>C	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.3394G>C	18.37:g.54547264G>C	ENSP00000254442:p.Val1132Leu					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.V1099L	p.V1132L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3605	+			1132					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3394G>C	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509258	0.85282	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.67345	-0.26;2.22	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.52573	1.65	0.80722	D	1	P;P	0.47910	0.902;0.841	P;P	0.61722	0.893;0.785	T	0.75377	-0.3339	10	0.44086	T	0.13	.	19.065	0.93106	0.0:0.0:1.0:0.0	.	1099;1132	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	1132;1099;457;1099	ENSP00000254442:V1132L;ENSP00000350187:V1099L	ENSP00000254442:V1132L	V	+	1	0	WDR7	52698262	1.000000	0.71417	0.974000	0.42286	0.716000	0.41182	8.993000	0.93524	2.681000	0.91329	0.655000	0.94253	GTA		0.423	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			15	82	0	0	0	0.004007	0	15	82				
VPS4B	9525	broad.mit.edu	37	18	61077680	61077680	+	Splice_Site	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:61077680C>G	ENST00000238497.5	-	3	343		c.e3-1		VPS4B_ENST00000591519.1_Splice_Site	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)						ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.?(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TGTGCTTCATCTATTAAAGGG	0.318																																							uc002lix.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e3-1		vacuolar protein sorting factor 4B							117.0	116.0	116.0					18																	61077680		2203	4300	6503	SO:0001630	splice_region_variant	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61077680C>G	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.140-1G>C	18.37:g.61077680C>G						VPS4B_uc010dpx.2_Splice_Site_p.Y47_splice|VPS4B_uc010dpy.2_Splice_Site|VPS4B_uc010dpz.1_Splice_Site	p.Y47_splice	NM_004869	NP_004860	O75351	VPS4B_HUMAN			3	400	-								Q69HW4|Q9GZS7	Splice_Site	SNP	ENST00000238497.5	37	c.140_splice	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220644	0.79464	.	.	ENSG00000119541	ENST00000238497	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.992	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS4B	59228660	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	4.389000	0.59639	2.665000	0.90641	0.655000	0.94253	.		0.318	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	Intron	10	190	0	0	0	0.000978	0	10	190				
SERPINB10	5273	broad.mit.edu	37	18	61587111	61587111	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:61587111C>T	ENST00000238508.3	+	5	521	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	154					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I154I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GAAAGGACATCAACTCTTGGG	0.393																																							uc010xev.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(460-462)ATC>ATT		serine (or cysteine) proteinase inhibitor, clade							64.0	72.0	69.0					18																	61587111		2203	4299	6502	SO:0001819	synonymous_variant	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61587111C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.462C>T	18.37:g.61587111C>T						SERPINB10_uc010xew.1_Silent_p.I154I	p.I154I	NM_005024	NP_005015	P48595	SPB10_HUMAN			5	552	+		Esophageal squamous(42;0.131)	154					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.462C>T	CCDS11990.1																																																																																				0.393	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		13	95	0	0	0	0.001368	0	13	95				
STK11	6794	broad.mit.edu	37	19	1219359	1219360	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:1219359_1219360GG>TT	ENST00000326873.7	+	3	1584_1585	c.411_412GG>TT	c.(409-414)caGGaa>caTTaa	p.137_138QE>H*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Q137_E138>H*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCATGCAGGAAATGCTGGA	0.703		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Complex - compound substitution(1)	p.0?(19)|p.E98_G155del(3)|p.?(2)|p.G52_P179del(1)|p.Q137*(1)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CM055546	STK11	M		c.(409-414)CAGGAA>CATTAA		serine/threonine protein kinase 11																																				SO:0001587	stop_gained	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1219359_1219360GG>TT	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		Exception_encountered	19.37:g.1219359_1219360delinsTT	ENSP00000324856:p.Q137_E138delinsH*	TSP Lung(3;<1E-08)					p.137_138QE>H*	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1526_1527	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	137_138			Protein kinase.		B2RBX7|E7EW76	Nonsense_Mutation	DNP	ENST00000326873.7	37	c.411_412GG>TT	CCDS45896.1																																																																																				0.703	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		7	3	0	0	0	0.004672	0	7	3				
CACTIN	58509	broad.mit.edu	37	19	3624101	3624101	+	Missense_Mutation	SNP	C	C	G	rs201504880		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:3624101C>G	ENST00000429344.2	-	2	279	c.227G>C	c.(226-228)cGg>cCg	p.R76P	CACTIN_ENST00000221899.3_Missense_Mutation_p.R8P|CACTIN_ENST00000248420.5_Missense_Mutation_p.R76P	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	76					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R8P(1)|p.R76P(1)									CCACTTGGGCCGCGGGGGGCT	0.677																																							uc002lyh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(226-228)CGG>CCG		chromosome 19 open reading frame 29							63.0	73.0	70.0					19																	3624101		1973	4111	6084	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3624101C>G	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.227G>C	19.37:g.3624101C>G	ENSP00000415078:p.Arg76Pro					C19orf29_uc002lyi.3_Missense_Mutation_p.R76P|C19orf29_uc010dto.2_RNA	p.R76P	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	280	-		Hepatocellular(1079;0.137)	76					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.227G>C	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557488	0.27827	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.41	0.3	0.15776	.	0.774326	0.10800	N	0.632785	T	0.14743	0.0356	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	9	0.59425	D	0.04	.	7.5709	0.27907	0.1093:0.5166:0.3741:0.0	.	76	Q8WUQ7	CS029_HUMAN	P	76;76;8	.	ENSP00000221899:R8P	R	-	2	0	C19orf29	3575101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	0.419000	0.25927	-0.311000	0.09066	CGG		0.677	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			4	167	0	0	0	0.001168	0	4	167				
NDUFA11	126328	broad.mit.edu	37	19	5896936	5896936	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:5896936C>T	ENST00000308961.4	-	2	217	c.170G>A	c.(169-171)gGa>gAa	p.G57E	AC024592.12_ENST00000586349.1_Nonsense_Mutation_p.W55*|NDUFA11_ENST00000592634.1_Missense_Mutation_p.G57E|AC104532.3_ENST00000590441.1_RNA|FUT5_ENST00000252675.5_5'UTR|AC104532.3_ENST00000589277.1_RNA|NDUFA11_ENST00000418389.2_Missense_Mutation_p.G57E	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	57					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)		p.G57E(1)		central_nervous_system(1)|lung(1)	2						CGTGTATTGTCCAACCTTAGC	0.612																																							uc002mdq.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(169-171)GGA>GAA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						199.0	170.0	180.0					19																	5896936		2203	4300	6503	SO:0001583	missense	126328				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity	g.chr19:5896936C>T	AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"""Mitochondrial respiratory chain complex / Complex I"""	20371	protein-coding gene	gene with protein product	"""complex I B14.7 subunit"""	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.170G>A	19.37:g.5896936C>T	ENSP00000311740:p.Gly57Glu					FUT5_uc010duo.2_5'UTR|NDUFA11_uc002mdp.1_Missense_Mutation_p.G57E|NDUFA11_uc002mdr.1_RNA	p.G57E	NM_175614	NP_783313	Q86Y39	NDUAB_HUMAN			2	476	-			57					C9JT23|Q6ZS66	Missense_Mutation	SNP	ENST00000308961.4	37	c.170G>A	CCDS12155.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015508	0.54468	.	.	ENSG00000174886	ENST00000418389;ENST00000308961	T;T	0.32272	1.46;1.46	3.96	3.96	0.45880	.	0.214360	0.37437	U	0.002091	T	0.55242	0.1908	M	0.80746	2.51	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.49021	-0.8982	10	0.72032	D	0.01	.	11.8614	0.52467	0.0:1.0:0.0:0.0	.	57;57	Q86Y39;C9JT23	NDUAB_HUMAN;.	E	57	ENSP00000389160:G57E;ENSP00000311740:G57E	ENSP00000311740:G57E	G	-	2	0	NDUFA11	5847936	0.460000	0.25776	0.025000	0.17156	0.029000	0.11900	3.394000	0.52551	1.945000	0.56424	0.407000	0.27541	GGA		0.612	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452218.1	NM_175614		7	143	0	0	0	0.001984	0	7	143				
SH2D3A	10045	broad.mit.edu	37	19	6755233	6755233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:6755233C>T	ENST00000245908.6	-	5	859	c.590G>A	c.(589-591)aGt>aAt	p.S197N	SH2D3A_ENST00000437152.3_Missense_Mutation_p.S75N|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	197					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.S197N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCCCTGAGACTGTCGGCAAC	0.637																																							uc002mft.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(589-591)AGT>AAT		SH2 domain containing 3A							76.0	84.0	81.0					19																	6755233		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755233C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.590G>A	19.37:g.6755233C>T	ENSP00000245908:p.Ser197Asn					SH2D3A_uc010xjg.1_Missense_Mutation_p.S75N	p.S197N	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			5	784	-			197					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.590G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	3.760	-0.049781	0.07407	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.30981	2.45;1.51	3.8	0.133	0.14766	.	1.500850	0.04303	N	0.347660	T	0.17534	0.0421	N	0.16478	0.41	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.11329	0.006;0.001	T	0.18681	-1.0329	10	0.21014	T	0.42	-0.099	3.9273	0.09269	0.1646:0.5779:0.16:0.0975	.	75;197	B4DRS7;Q9BRG2	.;SH23A_HUMAN	N	197;75	ENSP00000245908:S197N;ENSP00000393303:S75N	ENSP00000245908:S197N	S	-	2	0	SH2D3A	6706233	0.770000	0.28543	0.013000	0.15412	0.026000	0.11368	1.776000	0.38594	0.015000	0.14971	-0.502000	0.04539	AGT		0.637	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		37	121	0	0	0	0.005524	0	37	121				
ELAVL1	1994	broad.mit.edu	37	19	8038675	8038675	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:8038675C>G	ENST00000407627.2	-	4	493	c.364G>C	c.(364-366)Gta>Cta	p.V122L	ELAVL1_ENST00000593807.1_Missense_Mutation_p.V122L|ELAVL1_ENST00000351593.5_Missense_Mutation_p.V149L|ELAVL1_ENST00000596459.1_Missense_Mutation_p.V122L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	122	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.V122L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGTCTTCTACGTCCTTCTGG	0.592																																							uc002mjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GTA>CTA		ELAV-like 1							160.0	124.0	136.0					19																	8038675		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8038675C>G	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.364G>C	19.37:g.8038675C>G	ENSP00000385269:p.Val122Leu						p.V122L	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			4	531	-			122			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.364G>C	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899650	0.17686	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.03801	3.8;3.8	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.01489	0.0048	N	0.00427	-1.505	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.45687	-0.9244	10	0.02654	T	1	.	15.8573	0.78989	0.0:1.0:0.0:0.0	.	122	Q15717	ELAV1_HUMAN	L	122;149	ENSP00000385269:V122L;ENSP00000264073:V149L	ENSP00000264073:V149L	V	-	1	0	ELAVL1	7944675	0.993000	0.37304	0.998000	0.56505	0.991000	0.79684	3.011000	0.49567	2.595000	0.87683	0.655000	0.94253	GTA		0.592	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		15	50	0	0	0	0.003163	0	15	50				
SMARCA4	6597	broad.mit.edu	37	19	11138617	11138617	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:11138617A>G	ENST00000429416.3	+	25	3654	c.3373A>G	c.(3373-3375)Agg>Ggg	p.R1125G	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1125G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1125	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1125G(2)|p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TAAATACCTCAGGCTTGATGG	0.507			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		4	Substitution - Missense(2)|Unknown(2)	p.?(2)	lung(4)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3373-3375)AGG>GGG		SWI/SNF-related matrix-associated							154.0	150.0	151.0					19																	11138617		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138617A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3373A>G	19.37:g.11138617A>G	ENSP00000395654:p.Arg1125Gly					SMARCA4_uc010dxp.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1125G|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1125G|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1125G|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1125G|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxt.1_Missense_Mutation_p.R345G|SMARCA4_uc002mqh.3_Missense_Mutation_p.R248G|SMARCA4_uc002mqi.1_Missense_Mutation_p.R328G	p.R1125G	NM_003072	NP_003063	P51532	SMCA4_HUMAN			24	3657	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1125			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3373A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632731	0.67015	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.04	2.83	0.33086	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	H	0.98965	4.385	0.54753	D	0.999987	D;D;D;D;D;D;D;D	0.76494	0.992;0.998;0.998;0.998;0.964;0.999;0.999;0.999	D;D;D;D;P;D;D;D	0.85130	0.964;0.986;0.986;0.982;0.882;0.997;0.986;0.986	D	0.98039	1.0381	10	0.87932	D	0	-53.2145	11.0647	0.47968	0.5347:0.4653:0.0:0.0	.	1125;1125;1125;1125;1125;345;1125;1125	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	G	1125;1125;1189;1125;1125;1125;1125;1125	ENSP00000395654:R1125G;ENSP00000350720:R1125G;ENSP00000343896:R1125G;ENSP00000445036:R1125G;ENSP00000392837:R1125G;ENSP00000397783:R1125G;ENSP00000414727:R1125G	ENSP00000343896:R1125G	R	+	1	2	SMARCA4	10999617	0.489000	0.26004	1.000000	0.80357	0.972000	0.66771	0.072000	0.14617	0.339000	0.23719	0.533000	0.62120	AGG		0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		48	172	0	0	0	0.00361	0	48	172				
SMARCA4	6597	broad.mit.edu	37	19	11144113	11144113	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:11144113G>A	ENST00000429416.3	+	27	3975	c.3694G>A	c.(3694-3696)Ggc>Agc	p.G1232S	SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1232S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1232	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G1232S(5)|p.G1232C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATCCAGGCCGGCATGTTCGA	0.637			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		7	Substitution - Missense(6)|Unknown(1)	p.G1232D(1)	lung(3)|endometrium(2)|central_nervous_system(2)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3694-3696)GGC>AGC		SWI/SNF-related matrix-associated							118.0	114.0	115.0					19																	11144113		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144113G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3694G>A	19.37:g.11144113G>A	ENSP00000395654:p.Gly1232Ser					SMARCA4_uc010dxp.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1232S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1232S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G452S|SMARCA4_uc002mqh.3_Missense_Mutation_p.G355S|SMARCA4_uc002mqi.1_Missense_Mutation_p.G435S	p.G1232S	NM_003072	NP_003063	P51532	SMCA4_HUMAN			26	3978	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1232			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3694G>A	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673356|4.673356	0.88445|0.88445	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	T;T;T;D;D;D;D|.	0.95447|.	-1.02;-1.02;-1.02;-3.71;-3.71;-3.71;-3.71|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Helicase, C-terminal (1);|.	0.120502|.	0.56097|.	D|.	0.000034|.	T|T	0.77315|0.77315	0.4112|0.4112	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D;B;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.452;1.0;1.0;0.989|.	D;D;D;B;D;D;P|.	0.85130|.	0.997;0.997;0.997;0.264;0.989;0.994;0.797|.	T|T	0.78929|0.78929	-0.2010|-0.2010	10|5	0.87932|.	D|.	0|.	-28.4816|-28.4816	16.7067|16.7067	0.85374|0.85374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1232;1232;1232;1232;1232;452;1232|.	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532|.	.;.;.;.;.;.;SMCA4_HUMAN|.	S|Q	1232;1232;1296;1232;1232;1232;1232;1232|1	ENSP00000395654:G1232S;ENSP00000350720:G1232S;ENSP00000343896:G1232S;ENSP00000445036:G1232S;ENSP00000392837:G1232S;ENSP00000397783:G1232S;ENSP00000414727:G1232S|.	ENSP00000343896:G1232S|.	G|R	+|+	1|2	0|0	SMARCA4|SMARCA4	11005113|11005113	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.976000|0.976000	0.68499|0.68499	9.264000|9.264000	0.95635|0.95635	2.488000|2.488000	0.83962|0.83962	0.558000|0.558000	0.71614|0.71614	GGC|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		16	77	0	0	0	0.00499	0	16	77				
OR7A10	390892	broad.mit.edu	37	19	14952213	14952213	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:14952213T>C	ENST00000248058.1	-	1	476	c.477A>G	c.(475-477)caA>caG	p.Q159Q		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCATTAAGCTTTGTAACATGG	0.453																																							uc002mzx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)CAA>CAG		olfactory receptor, family 7, subfamily A,							79.0	76.0	77.0					19																	14952213		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952213T>C		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.477A>G	19.37:g.14952213T>C							p.Q159Q	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	477	-	Ovarian(108;0.203)		159			Helical; Name=4; (Potential).		Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.477A>G	CCDS32936.1																																																																																				0.453	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		47	67	0	0	0	0.00361	0	47	67				
EPS15L1	58513	broad.mit.edu	37	19	16503150	16503150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16503150C>A	ENST00000248070.6	-	19	2207	c.2068G>T	c.(2068-2070)Gat>Tat	p.D690Y	EPS15L1_ENST00000455140.2_Missense_Mutation_p.D690Y|EPS15L1_ENST00000535753.2_Missense_Mutation_p.D690Y|EPS15L1_ENST00000594975.1_Missense_Mutation_p.D692Y	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	690	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D690Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGAATGGATCCGAGGTAAAT	0.532																																							uc002ndz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2068-2070)GAT>TAT		epidermal growth factor receptor pathway							177.0	149.0	159.0					19																	16503150		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16503150C>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2068G>T	19.37:g.16503150C>A	ENSP00000248070:p.Asp690Tyr					EPS15L1_uc002ndx.2_Missense_Mutation_p.D690Y|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.D580Y|EPS15L1_uc010xpf.1_Missense_Mutation_p.D593Y|EPS15L1_uc002nea.1_Missense_Mutation_p.D690Y|EPS15L1_uc010eah.1_Missense_Mutation_p.D692Y	p.D690Y	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			19	2074	-			690			9.|15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.2068G>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074230	0.55646	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.38560	1.32;1.32;1.13	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.79011	2.435	0.80722	D	1	P;D;P;D	0.59767	0.95;0.986;0.943;0.963	P;P;P;P	0.54706	0.526;0.759;0.743;0.735	T	0.67329	-0.5698	10	0.72032	D	0.01	.	14.8431	0.70240	0.0:1.0:0.0:0.0	.	692;690;690;690	A8K5P4;A2RRF3;Q9UBC2;G3V0H2	.;.;EP15R_HUMAN;.	Y	690	ENSP00000393313:D690Y;ENSP00000248070:D690Y;ENSP00000440103:D690Y	ENSP00000248070:D690Y	D	-	1	0	EPS15L1	16364150	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	6.847000	0.75404	1.794000	0.52575	0.556000	0.70494	GAT		0.532	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		18	55	1	0	9.16793e-09	0.00499	1.18248e-08	18	55				
EPS15L1	58513	broad.mit.edu	37	19	16535930	16535930	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16535930C>A	ENST00000248070.6	-	9	895	c.756G>T	c.(754-756)ggG>ggT	p.G252G	EPS15L1_ENST00000455140.2_Silent_p.G252G|EPS15L1_ENST00000602009.1_Silent_p.G98G|EPS15L1_ENST00000535753.2_Silent_p.G252G|EPS15L1_ENST00000594975.1_Silent_p.G252G|EPS15L1_ENST00000597937.1_Silent_p.G252G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	252	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G252G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGGACAGGCTCCCTGTGCTGT	0.657																																							uc002ndz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(754-756)GGG>GGT		epidermal growth factor receptor pathway							59.0	57.0	58.0					19																	16535930		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16535930C>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.756G>T	19.37:g.16535930C>A						EPS15L1_uc002ndx.2_Silent_p.G252G|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.G142G|EPS15L1_uc010xpf.1_Silent_p.G155G|EPS15L1_uc002nea.1_Silent_p.G252G|EPS15L1_uc010eah.1_Silent_p.G252G|EPS15L1_uc002neb.1_Silent_p.G98G|EPS15L1_uc002nec.1_Silent_p.G252G	p.G252G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			9	762	-			252					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.756G>T	CCDS32944.1																																																																																				0.657	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		21	32	1	0	1.57351e-24	0.003755	2.52829e-24	21	32				
SIN3B	23309	broad.mit.edu	37	19	16973310	16973310	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16973310G>T	ENST00000248054.5	+	9	1227	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	SIN3B_ENST00000379803.1_Silent_p.R402R|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B									p.R402R(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGCTACCGGGCACTCCCCA	0.582																																							uc002ney.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1204-1206)CGG>CGT		SIN3 homolog B, transcription regulator							56.0	49.0	51.0					19																	16973310		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973310G>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1206G>T	19.37:g.16973310G>T						SIN3B_uc002nex.2_Silent_p.R334R|SIN3B_uc002nez.1_Silent_p.R402R|SIN3B_uc010xpi.1_5'Flank	p.R402R	NM_015260	NP_056075	O75182	SIN3B_HUMAN			9	1220	+			402			Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity).			Silent	SNP	ENST00000248054.5	37	c.1206G>T																																																																																					0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		9	29	1	0	0.000442599	0.006214	0.000491316	9	29				
MAST3	23031	broad.mit.edu	37	19	18245766	18245766	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:18245766A>T	ENST00000262811.6	+	16	1757	c.1757A>T	c.(1756-1758)gAg>gTg	p.E586V		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E608V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GATACCCCCGAGGAACTCTTC	0.632																																							uc002nhz.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|stomach(1)	5						c.(1756-1758)GAG>GTG		microtubule associated serine/threonine kinase							100.0	103.0	102.0					19																	18245766		2038	4186	6224	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245766A>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1757A>T	19.37:g.18245766A>T	ENSP00000262811:p.Glu586Val						p.E586V	NM_015016	NP_055831	O60307	MAST3_HUMAN			16	1757	+			586			Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1757A>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882355	0.91740	.	.	ENSG00000099308	ENST00000262811	T	0.66280	-0.2	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114692	0.64402	D	0.000006	T	0.63200	0.2491	N	0.20530	0.585	0.80722	D	1	P	0.50710	0.938	P	0.59825	0.864	T	0.68720	-0.5334	10	0.87932	D	0	-31.1699	13.5034	0.61471	1.0:0.0:0.0:0.0	.	586	O60307	MAST3_HUMAN	V	586	ENSP00000262811:E586V	ENSP00000262811:E586V	E	+	2	0	MAST3	18106766	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	9.209000	0.95087	1.801000	0.52704	0.260000	0.18958	GAG		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		8	72	0	0	0	0.006214	0	8	72				
FKBP8	23770	broad.mit.edu	37	19	18649233	18649233	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:18649233T>C	ENST00000596558.2	-	5	671	c.562A>G	c.(562-564)Atc>Gtc	p.I188V	FKBP8_ENST00000608443.1_Missense_Mutation_p.I189V|FKBP8_ENST00000610101.1_Intron|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.I217V|FKBP8_ENST00000222308.4_Missense_Mutation_p.I188V|FKBP8_ENST00000597960.3_Missense_Mutation_p.I189V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	188	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I189V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGCGGGGGGATGTATGGGCTC	0.677																																							uc002njk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)ATC>GTC		FK506-binding protein 8							15.0	16.0	16.0					19																	18649233		2198	4292	6490	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649233T>C	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.562A>G	19.37:g.18649233T>C	ENSP00000472302:p.Ile188Val					FKBP8_uc002nji.1_Missense_Mutation_p.I26V|FKBP8_uc010xqi.1_Missense_Mutation_p.I217V|FKBP8_uc002njj.1_Missense_Mutation_p.I189V|FKBP8_uc002njl.1_Missense_Mutation_p.I189V|FKBP8_uc002njm.1_Missense_Mutation_p.I188V|FKBP8_uc010ebr.1_Missense_Mutation_p.I27V|FKBP8_uc002njn.2_RNA	p.I188V	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	675	-			188			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.562A>G		.	.	.	.	.	.	.	.	.	.	T	9.193	1.026499	0.19512	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.59906	0.23;0.23	4.04	4.04	0.47022	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.060781	0.64402	D	0.000003	T	0.61974	0.2390	L	0.49640	1.575	0.80722	D	1	B;B;B;B	0.32862	0.145;0.387;0.386;0.383	B;P;B;B	0.49361	0.129;0.608;0.181;0.159	T	0.55579	-0.8119	10	0.15066	T	0.55	-20.0804	12.3058	0.54902	0.0:0.0:0.0:1.0	.	217;132;188;189	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	189;217	ENSP00000222308:I189V;ENSP00000388891:I217V	ENSP00000222308:I189V	I	-	1	0	FKBP8	18510233	1.000000	0.71417	0.999000	0.59377	0.518000	0.34316	1.978000	0.40598	1.689000	0.51079	0.459000	0.35465	ATC		0.677	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	24	0	0	0	0.000602	0	4	24				
SUGP1	57794	broad.mit.edu	37	19	19389590	19389590	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:19389590A>G	ENST00000247001.5	-	11	1891	c.1544T>C	c.(1543-1545)cTg>cCg	p.L515P		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	515					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.L515P(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CATCTTTGTCAGCTGCTCGGC	0.582																																							uc002nmh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)CTG>CCG		splicing factor 4							32.0	27.0	29.0					19																	19389590		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389590A>G	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1544T>C	19.37:g.19389590A>G	ENSP00000247001:p.Leu515Pro					SF4_uc002nmf.2_Missense_Mutation_p.L65P|SF4_uc002nmg.2_Missense_Mutation_p.L65P|SF4_uc002nmi.2_Missense_Mutation_p.L305P|SF4_uc002nmj.2_Missense_Mutation_p.L305P|SF4_uc002nme.2_Missense_Mutation_p.L65P	p.L515P	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			11	1546	-			515					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1544T>C	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074037	0.76415	.	.	ENSG00000105705	ENST00000247001	T	0.48201	0.82	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000006	T	0.67135	0.2861	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.71852	-0.4467	10	0.87932	D	0	.	13.3193	0.60424	1.0:0.0:0.0:0.0	.	515	Q8IWZ8	SUGP1_HUMAN	P	515	ENSP00000247001:L515P	ENSP00000247001:L515P	L	-	2	0	SUGP1	19250590	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.141000	0.94612	1.842000	0.53543	0.459000	0.35465	CTG		0.582	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		11	15	0	0	0	0.008291	0	11	15				
ZNF253	56242	broad.mit.edu	37	19	20003499	20003499	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:20003499A>C	ENST00000589717.1	+	4	1535	c.1443A>C	c.(1441-1443)atA>atC	p.I481I	ZNF253_ENST00000355650.4_Silent_p.I405I|AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	481					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)|zinc ion binding (GO:0008270)	p.I453I(1)|p.I481I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACCCTACATAGTGAAGAATG	0.338																																							uc002noj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1441-1443)ATA>ATC		zinc finger protein 253							71.0	81.0	78.0					19																	20003499		2071	4231	6302	SO:0001819	synonymous_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20003499A>C	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1443A>C	19.37:g.20003499A>C						ZNF253_uc002nok.2_Silent_p.I405I|ZNF253_uc002nol.2_RNA	p.I481I	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1535	+			481					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	c.1443A>C	CCDS42532.1																																																																																				0.338	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		4	78	0	0	0	0.009096	0	4	78				
ZNF737	100129842	broad.mit.edu	37	19	20736525	20736525	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:20736525C>A	ENST00000427401.4	-	2	214	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF737_ENST00000596797.1_Silent_p.L40L|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	40	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.L39L(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAGGAAGACCAGGTTTCTGT	0.348																																							uc002npa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(118-120)CTG>CTT		zinc finger protein 737							59.0	55.0	56.0					19																	20736525		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20736525C>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.120G>T	19.37:g.20736525C>A							p.L40L	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			2	300	-			40					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.120G>T	CCDS54238.1																																																																																				0.348	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		13	74	1	0	9.31168e-06	0.001855	1.09522e-05	13	74				
ZNF85	7639	broad.mit.edu	37	19	21116875	21116875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:21116875G>T	ENST00000328178.8	+	2	162	c.49G>T	c.(49-51)Gag>Tag	p.E17*	ZNF85_ENST00000597314.1_Nonsense_Mutation_p.E17*|ZNF85_ENST00000596476.1_5'UTR|ZNF85_ENST00000300540.3_Nonsense_Mutation_p.E17*|ZNF85_ENST00000601023.1_5'Flank|ZNF85_ENST00000345030.6_Nonsense_Mutation_p.E17*	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|transcription corepressor activity (GO:0003714)	p.E17*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTCTCTGAAGGAGTGGCAATG	0.438																																							uc002npg.3		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(49-51)GAG>TAG		zinc finger protein 85							164.0	180.0	174.0					19																	21116875		1511	2709	4220	SO:0001587	stop_gained	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21116875G>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.49G>T	19.37:g.21116875G>T	ENSP00000329793:p.Glu17*					ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_5'UTR|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank	p.E17*	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			2	176	+			17			KRAB.		B9ZVP4|Q6NVI0	Nonsense_Mutation	SNP	ENST00000328178.8	37	c.49G>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.14	1.267862	0.23136	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000300540	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.3055	0.15801	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000300540:E17X	E	+	1	0	ZNF85	20908715	0.953000	0.32496	0.028000	0.17463	0.026000	0.11368	2.311000	0.43717	0.459000	0.27016	0.462000	0.41574	GAG		0.438	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		25	128	1	0	1.17739e-12	0.005443	1.67845e-12	25	128				
ZNF208	7757	broad.mit.edu	37	19	22155159	22155159	+	Nonsense_Mutation	SNP	C	C	A	rs574810886		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:22155159C>A	ENST00000397126.4	-	4	2825	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	893					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E793*(2)|p.E893*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.383																																							uc002nqp.2		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2377-2379)GAA>TAA		zinc finger protein 208							46.0	49.0	48.0					19																	22155159		2093	4221	6314	SO:0001587	stop_gained	7757							g.chr19:22155159C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2677G>T	19.37:g.22155159C>A	ENSP00000380315:p.Glu893*					ZNF208_uc002nqo.1_Intron	p.E793*	NM_007153	NP_009084					5	2526	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.2377G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717836	0.96839	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.26	0.966	0.19667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	4.0904	0.09967	0.0:0.5855:0.2462:0.1683	.	.	.	.	X	893;793	.	ENSP00000380315:E893X	E	-	1	0	ZNF208	21946999	0.000000	0.05858	0.020000	0.16555	0.155000	0.21991	-0.841000	0.04359	1.024000	0.39682	0.289000	0.19496	GAA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	75	1	0	2.0095e-06	0.001984	2.40531e-06	5	75				
TSHZ3	57616	broad.mit.edu	37	19	31770490	31770490	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:31770490T>A	ENST00000240587.4	-	2	536	c.209A>T	c.(208-210)cAt>cTt	p.H70L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	70					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.H70L(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)					GTCCATTTCATGGCAGGAAAA	0.592																																							uc002nsy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(208-210)CAT>CTT		zinc finger protein 537							45.0	46.0	45.0					19																	31770490		1972	4137	6109	SO:0001583	missense	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.chr19:31770490T>A	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.209A>T	19.37:g.31770490T>A	ENSP00000240587:p.His70Leu						p.H70L	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	274	-	Esophageal squamous(110;0.226)		70					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.209A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802329	0.31869	.	.	ENSG00000121297	ENST00000240587	T	0.11495	2.77	5.92	5.92	0.95590	.	0.070421	0.56097	U	0.000027	T	0.12987	0.0315	L	0.43152	1.355	0.58432	D	0.999999	B	0.25105	0.118	B	0.21917	0.037	T	0.01972	-1.1237	10	0.72032	D	0.01	-25.2134	16.356	0.83235	0.0:0.0:0.0:1.0	.	70	Q63HK5	TSH3_HUMAN	L	70	ENSP00000240587:H70L	ENSP00000240587:H70L	H	-	2	0	TSHZ3	36462330	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.668000	0.83897	2.253000	0.74438	0.528000	0.53228	CAT		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	29	0	0	0	0.001168	0	4	29				
KIAA0355	9710	broad.mit.edu	37	19	34821190	34821190	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:34821190C>T	ENST00000299505.6	+	7	2074	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	401								p.P401S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGTTTGCCCTTCCACATG	0.527																																							uc002nvd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1201-1203)CCT>TCT		hypothetical protein LOC9710							127.0	92.0	104.0					19																	34821190		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34821190C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1201C>T	19.37:g.34821190C>T	ENSP00000299505:p.Pro401Ser						p.P401S	NM_014686	NP_055501	O15063	K0355_HUMAN			7	2060	+	Esophageal squamous(110;0.162)		401					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.1201C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989708	0.93106	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.27	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.27053	0.805	0.80722	D	1	D	0.54207	0.965	P	0.53266	0.722	T	0.64630	-0.6362	9	0.87932	D	0	-21.3907	16.2445	0.82434	0.0:0.867:0.133:0.0	.	401	O15063	K0355_HUMAN	S	401;104	.	ENSP00000299505:P401S	P	+	1	0	KIAA0355	39513030	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.380000	0.79704	1.345000	0.45676	0.643000	0.83706	CCT		0.527	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		4	45	0	0	0	0.004482	0	4	45				
HAMP	57817	broad.mit.edu	37	19	35775840	35775840	+	Splice_Site	SNP	G	G	T	rs202098787		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:35775840G>T	ENST00000598398.1	+	4	446		c.e4-1		HAMP_ENST00000222304.3_Splice_Site	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide						cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)		p.?(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTTCCCACAGCCCATGTTCC	0.587																																							uc002nyw.2		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e3-1		hepcidin antimicrobial peptide preproprotein							154.0	145.0	148.0					19																	35775840		2203	4300	6503	SO:0001630	splice_region_variant	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35775840G>T	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.151-1G>T	19.37:g.35775840G>T							p.P51_splice	NM_021175	NP_066998	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	222	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)							Q1HE14|Q9BY68	Splice_Site	SNP	ENST00000598398.1	37	c.151_splice	CCDS12454.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772184	0.31411	.	.	ENSG00000105697	ENST00000222304	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6114	0.56554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HAMP	40467680	0.986000	0.35501	0.320000	0.25306	0.013000	0.08279	4.520000	0.60524	2.348000	0.79779	0.561000	0.74099	.		0.587	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175	Intron	20	195	1	0	2.4624e-09	0.008871	3.24216e-09	20	195				
ZFP14	57677	broad.mit.edu	37	19	36831785	36831785	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:36831785T>C	ENST00000270001.7	-	5	1058	c.943A>G	c.(943-945)Aag>Gag	p.K315E		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	315					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.K315E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCACATTCCTTACATTCATAG	0.423																																							uc002odx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)AAG>GAG		zinc finger protein 14-like							97.0	99.0	99.0					19																	36831785		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831785T>C	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.943A>G	19.37:g.36831785T>C	ENSP00000270001:p.Lys315Glu					ZFP14_uc010xtd.1_Missense_Mutation_p.K316E|ZFP14_uc010eex.1_Missense_Mutation_p.K315E	p.K315E	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1036	-	Esophageal squamous(110;0.162)		315			C2H2-type 6.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.943A>G	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	t	13.78	2.340210	0.41398	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.08370	3.1	3.92	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000210	T	0.09158	0.0226	N	0.14661	0.345	0.24873	N	0.992275	D;P	0.89917	1.0;0.887	D;P	0.91635	0.999;0.678	T	0.32851	-0.9891	10	0.28530	T	0.3	.	1.0335	0.01543	0.1886:0.1094:0.1964:0.5056	.	315;315	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	E	315	ENSP00000270001:K315E	ENSP00000270001:K315E	K	-	1	0	ZFP14	41523625	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.795000	0.04580	1.766000	0.52107	0.448000	0.29417	AAG		0.423	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		10	152	0	0	0	0.001368	0	10	152				
ZFP82	284406	broad.mit.edu	37	19	36884792	36884792	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:36884792A>G	ENST00000392161.3	-	5	692	c.450T>C	c.(448-450)tcT>tcC	p.S150S	ZFP82_ENST00000392171.1_Silent_p.S150S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	150					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.S150S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTTCTGGTAAGAGGACACCT	0.418																																							uc002ody.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(448-450)TCT>TCC		zinc finger protein 82 homolog							130.0	117.0	121.0					19																	36884792		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884792A>G	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.450T>C	19.37:g.36884792A>G							p.S150S	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	685	-			150					Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.450T>C	CCDS12493.1																																																																																				0.418	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		35	114	0	0	0	0.003755	0	35	114				
ZNF585A	199704	broad.mit.edu	37	19	37643891	37643891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:37643891C>A	ENST00000356958.4	-	5	1168	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	ZNF585A_ENST00000392157.2_Missense_Mutation_p.G249C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G249C|ZNF585A_ENST00000355533.2_Missense_Mutation_p.G249C|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G249C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGATTTGCCACAGTTACTG	0.428																																							uc002ofo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(910-912)GGC>TGC		zinc finger protein 585A							263.0	237.0	246.0					19																	37643891		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643891C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.910G>T	19.37:g.37643891C>A	ENSP00000349440:p.Gly304Cys					ZNF585A_uc002ofm.1_Missense_Mutation_p.G249C|ZNF585A_uc002ofn.1_Missense_Mutation_p.G249C	p.G304C	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1141	-			304			C2H2-type 6.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.910G>T		.	.	.	.	.	.	.	.	.	.	C	11.96	1.794817	0.31777	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.23754	3.15;3.15;3.15;1.89	3.13	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002001	T	0.63710	0.2534	H	0.98068	4.14	0.38992	D	0.959175	D	0.76494	0.999	D	0.72625	0.978	T	0.78523	-0.2171	10	0.87932	D	0	.	12.0702	0.53611	0.0:1.0:0.0:0.0	.	304	Q6P3V2	Z585A_HUMAN	C	304;249;249;249	ENSP00000349440:G304C;ENSP00000292841:G249C;ENSP00000375998:G249C;ENSP00000347724:G249C	ENSP00000292841:G249C	G	-	1	0	ZNF585A	42335731	0.993000	0.37304	0.829000	0.32907	0.068000	0.16541	2.037000	0.41174	1.739000	0.51704	0.561000	0.74099	GGC		0.428	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		48	371	1	0	2.27781e-18	0.00361	3.44946e-18	48	371				
ZNF607	84775	broad.mit.edu	37	19	38190487	38190487	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:38190487G>C	ENST00000355202.4	-	5	1140	c.545C>G	c.(544-546)cCt>cGt	p.P182R	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.P181R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P182R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGGTTTGCAGGATAACTGAA	0.403																																							uc002ohc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CCT>CGT		zinc finger protein 607							122.0	112.0	115.0					19																	38190487		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190487G>C	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.545C>G	19.37:g.38190487G>C	ENSP00000347338:p.Pro182Arg					ZNF607_uc002ohb.1_Missense_Mutation_p.P181R	p.P182R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1141	-			182			C2H2-type 3.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.545C>G	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	0.826	-0.747049	0.03065	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.14266	2.52;2.52	2.1	-0.301	0.12800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.02674	-0.535	0.09310	N	1	B;B	0.16603	0.003;0.018	B;B	0.08055	0.003;0.002	T	0.44221	-0.9342	9	0.13853	T	0.58	.	3.1045	0.06337	0.2941:0.2341:0.4718:0.0	.	182;181	Q96SK3;F5H141	ZN607_HUMAN;.	R	182;181	ENSP00000347338:P182R;ENSP00000438015:P181R	ENSP00000347338:P182R	P	-	2	0	ZNF607	42882327	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-3.054000	0.00626	-0.150000	0.11195	0.561000	0.74099	CCT		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		13	159	0	0	0	0.001855	0	13	159				
PLEKHG2	64857	broad.mit.edu	37	19	39914084	39914084	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:39914084G>A	ENST00000409794.3	+	18	3240	c.2390G>A	c.(2389-2391)gGt>gAt	p.G797D	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G768D|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G738D|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	797					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G738D(1)|p.G755D(1)|p.G797D(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGATCTGGGTGGAGACAGC	0.652																																							uc010xuz.1		NA																	3	Substitution - Missense(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(2389-2391)GGT>GAT		common-site lymphoma/leukemia guanine nucleotide							20.0	25.0	23.0					19																	39914084		2201	4293	6494	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914084G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2390G>A	19.37:g.39914084G>A	ENSP00000386733:p.Gly797Asp					PLEKHG2_uc010xuy.1_Missense_Mutation_p.G738D|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.G575D	p.G797D	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2715	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		797					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2390G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247557|2.247557	0.39697|0.39697	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.69561|.	-0.28;-0.29;-0.41|.	5.68|5.68	3.49|3.49	0.39957|0.39957	.|.	0.591358|.	0.14109|.	N|.	0.340803|.	T|T	0.36248|0.36248	0.0960|0.0960	L|L	0.29908|0.29908	0.895|0.895	0.19775|0.19775	N|N	0.999951|0.999951	P;P;B|.	0.44429|.	0.835;0.745;0.421|.	B;B;B|.	0.42798|.	0.398;0.224;0.118|.	T|T	0.19451|0.19451	-1.0305|-1.0305	10|5	0.66056|.	D|.	0.02|.	.|.	12.4726|12.4726	0.55795|0.55795	0.0:0.3697:0.6303:0.0|0.0:0.3697:0.6303:0.0	.|.	768;797;738|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	D|M	797;768;738|665	ENSP00000386733:G797D;ENSP00000392906:G768D;ENSP00000408857:G738D|.	ENSP00000386733:G797D|.	G|V	+|+	2|1	0|0	PLEKHG2|PLEKHG2	44605924|44605924	0.779000|0.779000	0.28652|0.28652	0.243000|0.243000	0.24186|0.24186	0.921000|0.921000	0.55340|0.55340	1.853000|1.853000	0.39358|0.39358	0.703000|0.703000	0.31848|0.31848	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.652	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	22	0	0	0	0.001168	0	4	22				
TIMM50	92609	broad.mit.edu	37	19	39978750	39978750	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:39978750G>T	ENST00000607714.1	+	9	768	c.746G>T	c.(745-747)tGc>tTc	p.C249F	TIMM50_ENST00000599794.1_Missense_Mutation_p.C53F|TIMM50_ENST00000544017.1_Missense_Mutation_p.C136F|TIMM50_ENST00000314349.4_Missense_Mutation_p.C352F			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	249	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.C352F(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTGTGGACTGCAAGAAGGAA	0.562																																							uc002olu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)TGC>TTC		translocase of inner mitochondrial membrane 50							190.0	183.0	185.0					19																	39978750		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39978750G>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.746G>T	19.37:g.39978750G>T	ENSP00000475531:p.Cys249Phe					TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Missense_Mutation_p.C51F	p.C352F	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1188	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		249			Mitochondrial intermembrane (Potential).|FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.1055G>T		.	.	.	.	.	.	.	.	.	.	G	10.77	1.444248	0.25987	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.16743	2.32;2.32	4.96	4.96	0.65561	NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.27053	0.805	0.80722	D	1	B;B	0.27416	0.178;0.178	B;B	0.33196	0.134;0.159	T	0.09952	-1.0651	9	.	.	.	-25.5173	17.1189	0.86696	0.0:0.0:1.0:0.0	.	249;352	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	F	352;136	ENSP00000318115:C352F;ENSP00000445806:C136F	.	C	+	2	0	TIMM50	44670590	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.149000	0.94659	2.567000	0.86603	0.655000	0.94253	TGC		0.562	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		62	328	1	0	1.19553e-41	0.00361	1.98835e-41	62	328				
FCGBP	8857	broad.mit.edu	37	19	40424077	40424077	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:40424077C>T	ENST00000221347.6	-	4	2133	c.2126G>A	c.(2125-2127)gGg>gAg	p.G709E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	709						extracellular vesicular exosome (GO:0070062)		p.G709E(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGCCGCTCCCCACCGACCAC	0.632																																							uc002omp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2125-2127)GGG>GAG		Fc fragment of IgG binding protein precursor							102.0	92.0	95.0					19																	40424077		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40424077C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2126G>A	19.37:g.40424077C>T	ENSP00000221347:p.Gly709Glu						p.G709E	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	2134	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		709					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2126G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036468	0.54896	.	.	ENSG00000090920	ENST00000221347	T	0.77620	-1.11	5.23	5.23	0.72850	Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	D	0.000009	D	0.88959	0.6579	M	0.83223	2.63	0.44168	D	0.996972	D	0.89917	1.0	D	0.97110	1.0	D	0.89787	0.3965	10	0.54805	T	0.06	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	709	Q9Y6R7	FCGBP_HUMAN	E	709	ENSP00000221347:G709E	ENSP00000221347:G709E	G	-	2	0	FCGBP	45115917	0.829000	0.29322	0.816000	0.32577	0.034000	0.12701	1.751000	0.38339	2.447000	0.82792	0.650000	0.86243	GGG		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	146	0	0	0	0.010504	0	17	146				
BLVRB	645	broad.mit.edu	37	19	40957343	40957343	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:40957343C>T	ENST00000263368.4	-	4	542	c.391G>A	c.(391-393)Gac>Aac	p.D131N	BLVRB_ENST00000595483.1_Intron	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	131					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)	p.D131N(1)		large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	CGGATGTGGTCATCAGTCACA	0.607																																							uc002onw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GAC>AAC		biliverdin reductase B (flavin reductase	NADH(DB00157)|Riboflavin(DB00140)						94.0	63.0	73.0					19																	40957343		2203	4300	6503	SO:0001583	missense	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40957343C>T	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.391G>A	19.37:g.40957343C>T	ENSP00000263368:p.Asp131Asn					BLVRB_uc010egw.1_RNA	p.D131N	NM_000713	NP_000704	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	521	-			131					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP	ENST00000263368.4	37	c.391G>A	CCDS33029.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913557	0.92178	.	.	ENSG00000090013	ENST00000263368	T	0.30182	1.54	5.37	4.32	0.51571	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76542	-0.2921	10	0.52906	T	0.07	-32.1706	15.2169	0.73274	0.0:0.8581:0.1419:0.0	.	131	P30043	BLVRB_HUMAN	N	131	ENSP00000263368:D131N	ENSP00000263368:D131N	D	-	1	0	BLVRB	45649183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.614000	0.74197	1.380000	0.46344	0.467000	0.42956	GAC		0.607	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			4	28	0	0	0	0.001168	0	4	28				
TGFB1	7040	broad.mit.edu	37	19	41847787	41847787	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:41847787C>A	ENST00000221930.5	-	5	1727		c.e5+1			NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1						active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)	p.?(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	ACAAGGCTCACCTGAAGCAAT	0.632																																							uc002oqh.1		NA																	1	Unknown(1)		lung(1)		0						c.e5+1		transforming growth factor, beta 1 precursor	Hyaluronidase(DB00070)						53.0	49.0	50.0					19																	41847787		2203	4300	6503	SO:0001630	splice_region_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41847787C>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.860+1G>T	19.37:g.41847787C>A						CYP2F1_uc010xvw.1_Intron	p.S287_splice	NM_000660	NP_000651	P01137	TGFB1_HUMAN			5	1727	-								A8K792|Q9UCG4	Splice_Site	SNP	ENST00000221930.5	37	c.860_splice	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781436	0.70222	.	.	ENSG00000105329	ENST00000221930	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6444	0.62272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TGFB1	46539627	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.428000	0.66489	2.593000	0.87608	0.650000	0.86243	.		0.632	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2		Intron	6	54	1	0	0.00116845	0.001168	0.00127467	6	54				
PSG8	440533	broad.mit.edu	37	19	43258604	43258604	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:43258604G>C	ENST00000306511.4	-	5	1221	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	PSG8_ENST00000404209.4_Nonsense_Mutation_p.S375*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Nonsense_Mutation_p.S253*|PSG8_ENST00000401467.2_Nonsense_Mutation_p.S282*	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	375	Ig-like C2-type 3.					extracellular region (GO:0005576)		p.S375*(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)				CTTTTGTCCTGATAGCTGAAA	0.468																																							uc002ouo.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1123-1125)TCA>TGA		pregnancy specific beta-1-glycoprotein 8 isoform							195.0	215.0	208.0					19																	43258604		2203	4299	6502	SO:0001587	stop_gained	440533					extracellular region		g.chr19:43258604G>C	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.1124C>G	19.37:g.43258604G>C	ENSP00000305005:p.Ser375*					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Nonsense_Mutation_p.S214*|PSG8_uc002ouh.2_Nonsense_Mutation_p.S375*|PSG8_uc010ein.2_Nonsense_Mutation_p.S253*|PSG8_uc002ouj.3_Nonsense_Mutation_p.S157*|PSG8_uc002ouk.3_Nonsense_Mutation_p.S214*|PSG8_uc002oul.3_Nonsense_Mutation_p.S375*|PSG8_uc002oum.3_Nonsense_Mutation_p.S282*|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Nonsense_Mutation_p.S282*	p.S375*	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			5	1222	-		Prostate(69;0.00899)	375			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Nonsense_Mutation	SNP	ENST00000306511.4	37	c.1124C>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	12.49	1.953293	0.34471	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	.	.	.	1.38	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999927	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	1.7425	0.02955	0.2422:0.0:0.4262:0.3316	.	.	.	.	X	375;157;253;282;187;282;375	.	ENSP00000292109:S157X	S	-	2	0	PSG8	47950444	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.244000	0.08903	-0.089000	0.12484	-0.901000	0.02856	TCA		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			8	464	0	0	0	0.00308	0	8	464				
PSG9	5678	broad.mit.edu	37	19	43763022	43763022	+	Silent	SNP	G	G	T	rs372476822		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:43763022G>T	ENST00000270077.3	-	4	1071	c.975C>A	c.(973-975)atC>atA	p.I325I	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Silent_p.I232I|PSG9_ENST00000443718.3_Silent_p.I232I|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	325	Ig-like C2-type 2.		I -> T (in dbSNP:rs1135905).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I325I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGACATTTAGGATGACTGGGT	0.507																																							uc002owd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(973-975)ATC>ATA		pregnancy specific beta-1-glycoprotein 9							97.0	101.0	100.0					19																	43763022		2134	4279	6413	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763022G>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.975C>A	19.37:g.43763022G>T						PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.I232I|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.I325I	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1074	-		Prostate(69;0.00682)	325			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.975C>A	CCDS12618.1																																																																																				0.507	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		21	125	1	0	8.10497e-08	0.010504	1.01634e-07	21	125				
KCNN4	3783	broad.mit.edu	37	19	44273613	44273613	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:44273613G>A	ENST00000262888.3	-	6	1425	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	344	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCGGCCAGCAGCTTGCGCTGA	0.577																																							uc002oxl.2		NA																	0				ovary(2)	2						c.(1030-1032)CTG>TTG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						72.0	66.0	68.0					19																	44273613		2203	4300	6503	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273613G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1030C>T	19.37:g.44273613G>A						KCNN4_uc010eiz.2_Missense_Mutation_p.A236V	p.L344L	NM_002250	NP_002241	O15554	KCNN4_HUMAN			6	1426	-		Prostate(69;0.0352)	344			Calmodulin-binding.		Q53XR4	Silent	SNP	ENST00000262888.3	37	c.1030C>T	CCDS12630.1																																																																																				0.577	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		5	70	0	0	0	0.001168	0	5	70				
CEACAM20	125931	broad.mit.edu	37	19	45029229	45029229	+	RNA	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:45029229A>T	ENST00000454753.1	-	0	379							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.L34H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTTGGCATTGAGGGTGAGCTG	0.577																																							uc010ejn.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(100-102)CTC>CAC		carcinoembryonic antigen-related cell adhesion							112.0	120.0	117.0					19																	45029229		2094	4221	6315			125931					integral to membrane		g.chr19:45029229A>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029229A>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.L34H|CEACAM20_uc010ejp.1_Missense_Mutation_p.L34H|CEACAM20_uc010ejq.1_Missense_Mutation_p.L34H	p.L34H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			2	117	-		Prostate(69;0.0352)	34			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.101T>A																																																																																					0.577	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		15	135	0	0	0	0.00245	0	15	135				
MEIS3	56917	broad.mit.edu	37	19	47920559	47920559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:47920559G>T	ENST00000558555.1	-	2	248	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	MEIS3_ENST00000331559.5_Missense_Mutation_p.L21M|MEIS3_ENST00000559524.1_Missense_Mutation_p.L21M|MEIS3_ENST00000441740.2_Missense_Mutation_p.L21M|MEIS3_ENST00000561096.1_Missense_Mutation_p.L109M|MEIS3_ENST00000561293.1_Missense_Mutation_p.L21M			Q99687	MEIS3_HUMAN	Meis homeobox 3	21					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.L21M(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		AAGCTAGCCAGGGCTGCGGGG	0.687																																							uc002pgu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CTG>ATG		Meis1, myeloid ecotropic viral integration site							39.0	47.0	44.0					19																	47920559		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920559G>T	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.61C>A	19.37:g.47920559G>T	ENSP00000454073:p.Leu21Met					MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.L102M|MEIS3_uc002pgr.2_Translation_Start_Site|MEIS3_uc002pgt.2_Missense_Mutation_p.L21M|MEIS3_uc002pgv.2_Missense_Mutation_p.L21M|MEIS3_uc002pgs.2_Missense_Mutation_p.L21M|MEIS3_uc010eld.2_Missense_Mutation_p.L21M|MEIS3_uc002pgw.2_Silent_p.P133P	p.L21M	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	2	508	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	21					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.61C>A		.	.	.	.	.	.	.	.	.	.	G	0.334	-0.954404	0.02285	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.37235	1.21;1.21	3.5	2.46	0.29980	.	0.745147	0.11339	N	0.574278	T	0.41096	0.1144	L	0.44542	1.39	0.26451	N	0.975607	P;P;D	0.76494	0.904;0.946;0.999	P;P;D	0.80764	0.615;0.528;0.994	T	0.30446	-0.9978	10	0.02654	T	1	-15.341	5.6039	0.17369	0.245:0.0:0.755:0.0	.	21;21;21	Q99687;Q99687-3;Q99687-2	MEIS3_HUMAN;.;.	M	21	ENSP00000333552:L21M;ENSP00000388667:L21M	ENSP00000333552:L21M	L	-	1	2	MEIS3	52612371	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	3.300000	0.51834	1.053000	0.40415	0.561000	0.74099	CTG		0.687	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		12	77	1	0	6.94344e-10	0.006122	9.32349e-10	12	77				
PLA2G4C	8605	broad.mit.edu	37	19	48558262	48558262	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:48558262G>C	ENST00000599921.1	-	15	1659	c.1302C>G	c.(1300-1302)ccC>ccG	p.P434P	PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Silent_p.P444P|PLA2G4C_ENST00000413144.2_Silent_p.P434P|PLA2G4C_ENST00000354276.3_Silent_p.P434P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	434	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.P434P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTTGGGGAAAGGGGATCTTGT	0.547																																							uc002phx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1300-1302)CCC>CCG		phospholipase A2, group IVC isoform 1 precursor							88.0	89.0	89.0					19																	48558262		2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48558262G>C	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1302C>G	19.37:g.48558262G>C						PLA2G4C_uc002phv.2_RNA|PLA2G4C_uc002phw.2_Silent_p.P369P|PLA2G4C_uc010elr.2_Silent_p.P434P|PLA2G4C_uc010xzd.1_Silent_p.P444P	p.P434P	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	15	1700	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	434			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.1302C>G	CCDS12710.1																																																																																				0.547	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			49	63	0	0	0	0.00361	0	49	63				
CYTH2	9266	broad.mit.edu	37	19	48982391	48982391	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:48982391G>T	ENST00000452733.2	+	12	1600	c.1124G>T	c.(1123-1125)aGt>aTt	p.S375I	CTC-273B12.8_ENST00000599877.1_lincRNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.S376I			Q99418	CYH2_HUMAN	cytohesin 2	376	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.S376I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCGGCTGTGAGTGTGGACCCC	0.607																																							uc002pjj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)AGT>ATT		cytohesin 2 isoform 1							100.0	101.0	101.0					19																	48982391		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48982391G>T	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.1124G>T	19.37:g.48982391G>T	ENSP00000408236:p.Ser375Ile					CYTH2_uc002pji.2_RNA	p.S376I	NM_017457	NP_059431	Q99418	CYH2_HUMAN			13	1427	+			376			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.1127G>T	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655208	0.88056	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.78481	-1.18;-1.18	4.66	4.66	0.58398	.	0.048184	0.85682	D	0.000000	T	0.79257	0.4415	M	0.73430	2.235	0.80722	D	1	B	0.32876	0.388	B	0.36666	0.23	T	0.81097	-0.1087	10	0.56958	D	0.05	.	15.4507	0.75271	0.0:0.0:1.0:0.0	.	375	Q99418-2	.	I	375;376	ENSP00000408236:S375I;ENSP00000391648:S376I	ENSP00000391648:S376I	S	+	2	0	CYTH2	53674203	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	9.648000	0.98483	2.585000	0.87301	0.655000	0.94253	AGT		0.607	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		6	175	1	0	0.00198382	0.001984	0.00213469	6	175				
RASIP1	54922	broad.mit.edu	37	19	49224084	49224084	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49224084G>A	ENST00000222145.4	-	12	3067	c.2863C>T	c.(2863-2865)Cat>Tat	p.H955Y	MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	955					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.H955Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGCCCATGGCGATAATTG	0.617																																							uc002pki.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2863-2865)CAT>TAT		Ras-interacting protein 1							94.0	97.0	96.0					19																	49224084		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224084G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2863C>T	19.37:g.49224084G>A	ENSP00000222145:p.His955Tyr					MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.H216Y	p.H955Y	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	3060	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	955					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2863C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604848	0.66445	.	.	ENSG00000105538	ENST00000222145	T	0.23754	1.89	5.5	5.5	0.81552	.	0.242001	0.32736	N	0.005708	T	0.19927	0.0479	N	0.22421	0.69	0.32860	D	0.507837	P	0.49185	0.92	B	0.41036	0.346	T	0.14531	-1.0469	10	0.51188	T	0.08	-8.8386	15.2701	0.73693	0.0:0.0:1.0:0.0	.	955	Q5U651	RAIN_HUMAN	Y	955	ENSP00000222145:H955Y	ENSP00000222145:H955Y	H	-	1	0	RASIP1	53915896	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.278000	0.65592	2.771000	0.95319	0.655000	0.94253	CAT		0.617	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		29	226	0	0	0	0.002836	0	29	226				
FGF21	26291	broad.mit.edu	37	19	49260247	49260247	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49260247G>T	ENST00000593756.1	+	3	872	c.300G>T	c.(298-300)agG>agT	p.R100S	FGF21_ENST00000222157.3_Missense_Mutation_p.R100S|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	100					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.R100S(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGACATCCAGGTTCCTGTGCC	0.562																																							uc002pkn.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(298-300)AGG>AGT		fibroblast growth factor 21 precursor							112.0	115.0	114.0					19																	49260247		2203	4300	6503	SO:0001583	missense	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49260247G>T	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.300G>T	19.37:g.49260247G>T	ENSP00000471477:p.Arg100Ser					FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.R100S	p.R100S	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	872	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	100					Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	c.300G>T	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335121	0.60853	.	.	ENSG00000105550	ENST00000222157	D	0.87887	-2.31	4.17	-1.8	0.07907	.	0.362398	0.26911	N	0.021864	D	0.83709	0.5313	M	0.80616	2.505	0.26388	N	0.976625	P	0.36354	0.549	B	0.35182	0.197	T	0.76637	-0.2886	10	0.66056	D	0.02	-9.7935	7.6763	0.28488	0.4954:0.0:0.5046:0.0	.	100	Q9NSA1	FGF21_HUMAN	S	100	ENSP00000222157:R100S	ENSP00000222157:R100S	R	+	3	2	FGF21	53952059	0.874000	0.30092	0.991000	0.47740	0.986000	0.74619	-0.050000	0.11904	-0.309000	0.08779	-0.355000	0.07637	AGG		0.562	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			7	253	1	0	1.12685e-05	0.004482	1.32046e-05	7	253				
TRPM4	54795	broad.mit.edu	37	19	49671273	49671273	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49671273G>A	ENST00000252826.5	+	4	493	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	TRPM4_ENST00000427978.2_Missense_Mutation_p.G123R|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	123					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.G123R(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTCAGTGCTGGGGGGATCGGG	0.672																																							uc002pmw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(367-369)GGG>AGG		transient receptor potential cation channel,							73.0	83.0	79.0					19																	49671273		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671273G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.367G>A	19.37:g.49671273G>A	ENSP00000252826:p.Gly123Arg					TRPM4_uc010emu.2_Missense_Mutation_p.G123R|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Intron|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron	p.G123R	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	4	439	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	123			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.367G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027833	0.75390	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.18016	2.24;2.24	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000002	T	0.49745	0.1575	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.61987	-0.6949	10	0.87932	D	0	-30.6604	16.0983	0.81144	0.0:0.0:1.0:0.0	.	123;123	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	R	123	ENSP00000252826:G123R;ENSP00000407492:G123R	ENSP00000252826:G123R	G	+	1	0	TRPM4	54363085	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	8.641000	0.91032	2.406000	0.81754	0.491000	0.48974	GGG		0.672	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		30	200	0	0	0	0.009535	0	30	200				
CPT1C	126129	broad.mit.edu	37	19	50214055	50214055	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:50214055C>T	ENST00000392518.4	+	16	2179	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	CPT1C_ENST00000598293.1_Missense_Mutation_p.R603W|CPT1C_ENST00000405931.2_Missense_Mutation_p.R592W|CPT1C_ENST00000354199.5_Missense_Mutation_p.R603W|CPT1C_ENST00000323446.5_Missense_Mutation_p.R603W	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	603					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R603W(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGACGGTGCGGTCTTGCAC	0.577																																							uc002ppj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1807-1809)CGG>TGG		carnitine palmitoyltransferase 1C isoform 2							54.0	50.0	52.0					19																	50214055		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50214055C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1807C>T	19.37:g.50214055C>T	ENSP00000376303:p.Arg603Trp					CPT1C_uc002ppl.3_3'UTR|CPT1C_uc002ppi.2_Missense_Mutation_p.R520W|CPT1C_uc002ppk.2_Missense_Mutation_p.R592W|CPT1C_uc010eng.2_Missense_Mutation_p.R603W|CPT1C_uc010enh.2_Missense_Mutation_p.R603W|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Missense_Mutation_p.R260W	p.R603W	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	15	2012	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	603			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1807C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027391	0.75390	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	3.96	-0.173	0.13322	.	0.000000	0.33610	N	0.004724	D	0.98495	0.9498	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	-22.1682	11.9852	0.53142	0.5454:0.4546:0.0:0.0	.	592;603	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	W	603;603;592;603	ENSP00000376303:R603W;ENSP00000346138:R603W;ENSP00000384465:R592W;ENSP00000319343:R603W	ENSP00000319343:R603W	R	+	1	2	CPT1C	54905867	1.000000	0.71417	0.802000	0.32245	0.884000	0.51177	1.327000	0.33746	-0.036000	0.13669	0.299000	0.19835	CGG		0.577	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		4	68	0	0	0	0.009096	0	4	68				
SHANK1	50944	broad.mit.edu	37	19	51217450	51217450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51217450G>T	ENST00000293441.1	-	4	647	c.629C>A	c.(628-630)tCg>tAg	p.S210*	SHANK1_ENST00000359082.3_Nonsense_Mutation_p.S210*|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.S210*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	210					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.S210*(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCGAATCCGAGTCATGGTA	0.602																																							uc002psx.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)	2						c.(628-630)TCG>TAG		SH3 and multiple ankyrin repeat domains 1							62.0	51.0	55.0					19																	51217450		2203	4300	6503	SO:0001587	stop_gained	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217450G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.629C>A	19.37:g.51217450G>T	ENSP00000293441:p.Ser210*						p.S210*	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	4	648	-		all_neural(266;0.057)	210					A8MXP5|B7WNY6|Q9NYW9	Nonsense_Mutation	SNP	ENST00000293441.1	37	c.629C>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	38	7.197365	0.98129	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	.	.	.	3.86	3.86	0.44501	.	0.313860	0.22015	U	0.065814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-10.5769	14.0937	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000293441:S210X	S	-	2	0	SHANK1	55909262	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.059000	0.71133	2.459000	0.83118	0.561000	0.74099	TCG		0.602	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	48	1	0	3.59834e-05	0.001168	4.13983e-05	5	48				
CLEC11A	6320	broad.mit.edu	37	19	51226833	51226833	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51226833C>T	ENST00000250340.4	+	1	248	c.51C>T	c.(49-51)ggC>ggT	p.G17G	CLEC11A_ENST00000599973.1_Silent_p.G17G	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	17					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.G17G(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTCTTGGGCTTTGGCCATG	0.632																																							uc002psy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(49-51)GGC>GGT		stem cell growth factor precursor							56.0	58.0	57.0					19																	51226833		2203	4300	6503	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51226833C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.51C>T	19.37:g.51226833C>T							p.G17G	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	229	+		all_neural(266;0.057)	17					B2RAD4	Silent	SNP	ENST00000250340.4	37	c.51C>T	CCDS12800.1																																																																																				0.632	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		7	93	0	0	0	0.00308	0	7	93				
CEACAM18	729767	broad.mit.edu	37	19	51983903	51983903	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51983903C>A	ENST00000396477.4	+	2	390	c.369C>A	c.(367-369)acC>acA	p.T123T	CEACAM18_ENST00000451626.1_Silent_p.T184T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	123								p.T123T(1)|p.T184T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAATGAGACCCAAAGAGCAA	0.537																																							uc002pwv.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(550-552)ACC>ACA		carcinoembryonic antigen-related cell adhesion							77.0	77.0	77.0					19																	51983903		1967	4141	6108	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51983903C>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.369C>A	19.37:g.51983903C>A							p.T184T	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	552	+		all_neural(266;0.0529)	184					C9JN24	Silent	SNP	ENST00000396477.4	37	c.552C>A																																																																																					0.537	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			22	113	1	0	0.000229342	0.001882	0.000257602	22	113				
ZNF577	84765	broad.mit.edu	37	19	52376333	52376333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52376333C>A	ENST00000301399.5	-	7	1275	c.910G>T	c.(910-912)Gga>Tga	p.G304*	ZNF577_ENST00000420592.1_Nonsense_Mutation_p.G245*|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.G245*|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	304					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.G297*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGGTTCTTCCACAATCACTG	0.438																																							uc010yde.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(910-912)GGA>TGA		zinc finger protein 577 isoform a							98.0	95.0	96.0					19																	52376333		2203	4300	6503	SO:0001587	stop_gained	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376333C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.910G>T	19.37:g.52376333C>A	ENSP00000301399:p.Gly304*					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.G245*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.G297*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.G238*	p.G304*	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1301	-		all_neural(266;0.0602)	304			C2H2-type 6.		A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	ENST00000301399.5	37	c.910G>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	37	6.166939	0.97343	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	.	.	.	3.0	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.5947	0.28041	0.0:0.8194:0.0:0.1806	.	.	.	.	X	304;245;245;304	.	ENSP00000301399:G304X	G	-	1	0	ZNF577	57068145	0.023000	0.18921	0.350000	0.25708	0.537000	0.34900	0.651000	0.24873	0.445000	0.26639	0.591000	0.81541	GGA		0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		33	165	1	0	1.36161e-19	0.004289	2.09208e-19	33	165				
ZNF649	65251	broad.mit.edu	37	19	52394116	52394116	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52394116T>C	ENST00000354957.3	-	5	1557	c.1273A>G	c.(1273-1275)Acg>Gcg	p.T425A	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.T397A|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					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.T425A(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)		CTCTCTCCCGTGTGAGTTCTG	0.428																																							uc002pxy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1273-1275)ACG>GCG		zinc finger protein 649							159.0	158.0	158.0					19																	52394116		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394116T>C	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.1273A>G	19.37:g.52394116T>C	ENSP00000347043:p.Thr425Ala					ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_RNA	p.T425A	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1541	-		all_neural(266;0.0602)	425					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1273A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480181	0.44044	.	.	ENSG00000198093	ENST00000354957	T	0.26518	1.73	2.63	1.59	0.23543	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22044	0.0531	L	0.54863	1.705	0.25939	N	0.982897	B	0.31503	0.326	B	0.28232	0.087	T	0.18840	-1.0324	9	0.87932	D	0	.	6.2434	0.20803	0.0:0.1335:0.0:0.8665	.	425	Q9BS31	ZN649_HUMAN	A	425	ENSP00000347043:T425A	ENSP00000347043:T425A	T	-	1	0	ZNF649	57085928	1.000000	0.71417	0.778000	0.31720	0.511000	0.34104	3.781000	0.55394	0.175000	0.19841	0.332000	0.21555	ACG		0.428	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		50	309	0	0	0	0.00361	0	50	309				
ZNF614	80110	broad.mit.edu	37	19	52520455	52520455	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52520455C>A	ENST00000270649.6	-	5	940	c.396G>T	c.(394-396)ttG>ttT	p.L132F	ZNF614_ENST00000356322.6_Missense_Mutation_p.L132F	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L132F(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTTTCTGTACAAGTCAAATG	0.338																																							uc002pyj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(394-396)TTG>TTT		zinc finger protein 614							86.0	82.0	84.0					19																	52520455		2203	4299	6502	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520455C>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.396G>T	19.37:g.52520455C>A	ENSP00000270649:p.Leu132Phe					ZNF614_uc002pyi.3_Missense_Mutation_p.L132F|ZNF614_uc010epj.2_5'UTR	p.L132F	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	798	-		all_neural(266;0.0505)	132					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.396G>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947245	0.18356	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07216	5.92;3.21	3.61	-3.72	0.04411	.	.	.	.	.	T	0.06234	0.0161	L	0.39245	1.2	0.09310	N	1	B;P	0.36753	0.246;0.568	B;B	0.38985	0.066;0.287	T	0.28681	-1.0036	9	0.51188	T	0.08	.	1.4231	0.02317	0.1497:0.316:0.3043:0.23	.	132;132	Q8N883;Q9BSN8	ZN614_HUMAN;.	F	132	ENSP00000348674:L132F;ENSP00000270649:L132F	ENSP00000270649:L132F	L	-	3	2	ZNF614	57212267	0.001000	0.12720	0.014000	0.15608	0.267000	0.26476	-1.024000	0.03603	-0.664000	0.05324	-0.469000	0.05056	TTG		0.338	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		10	81	1	0	0.000442599	0.006214	0.000491316	10	81				
ZNF701	55762	broad.mit.edu	37	19	53086276	53086276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53086276G>T	ENST00000540331.1	+	5	1387	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	ZNF701_ENST00000391785.3_Nonsense_Mutation_p.G322*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Nonsense_Mutation_p.G388*	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	388					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.G322*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGTTCATACTGGAGAGAAACC	0.378																																					NSCLC(89;451 1475 9611 20673 52284)	NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(964-966)GGA>TGA		zinc finger protein 701							67.0	69.0	69.0					19																	53086276		2203	4297	6500	SO:0001587	stop_gained	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086276G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1162G>T	19.37:g.53086276G>T	ENSP00000444339:p.Gly388*					ZNF701_uc010ydn.1_Nonsense_Mutation_p.G388*	p.G322*	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1091	+			322					A2RRM8|B9EGF2|F5GZM6|Q66K42	Nonsense_Mutation	SNP	ENST00000540331.1	37	c.964G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683386	0.88542	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	.	.	.	1.94	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.9344	0.47237	0.0:0.0:1.0:0.0	.	.	.	.	X	322;388;388	.	ENSP00000301093:G388X	G	+	1	0	ZNF701	57778088	0.990000	0.36364	0.227000	0.23927	0.338000	0.28826	4.784000	0.62411	1.074000	0.40909	0.456000	0.33151	GGA		0.378	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		4	121	1	0	0.00909568	0.009096	0.00959144	4	121				
ZNF415	55786	broad.mit.edu	37	19	53612346	53612346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53612346G>T	ENST00000500065.4	-	4	1285	c.952C>A	c.(952-954)Cat>Aat	p.H318N	ZNF415_ENST00000440291.1_Missense_Mutation_p.H305N|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.H366N|ZNF415_ENST00000601493.1_Missense_Mutation_p.H88N|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.H318N|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H330N|ZNF415_ENST00000455735.2_Missense_Mutation_p.H366N	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H318N(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTTTTCTGATGTAGTGCAAGG	0.418																																							uc002qax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1096-1098)CAT>AAT		RecName: Full=Zinc finger protein 415;							91.0	84.0	86.0					19																	53612346		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612346G>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.952C>A	19.37:g.53612346G>T	ENSP00000439435:p.His318Asn					ZNF415_uc002qat.2_Missense_Mutation_p.H330N|ZNF415_uc002qaw.2_Missense_Mutation_p.H318N|ZNF415_uc010yds.1_Missense_Mutation_p.H318N|ZNF415_uc010ydt.1_Missense_Mutation_p.H318N|ZNF415_uc002qau.2_Missense_Mutation_p.H305N|ZNF415_uc002qav.2_Missense_Mutation_p.H330N|ZNF415_uc002qba.2_Missense_Mutation_p.H88N|ZNF415_uc002qay.2_Missense_Mutation_p.H305N|ZNF415_uc002qaz.2_Missense_Mutation_p.H366N	p.H366N	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1445	-			366			C2H2-type 4.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1096C>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343594	0.41498	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95357	0.8493	H	0.96604	3.85	0.09310	N	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.96;0.998;0.999	P;D;D;D;D;D	0.91635	0.895;0.999;0.936;0.938;0.946;0.998	D	0.87421	0.2382	9	0.87932	D	0	.	12.3152	0.54951	0.0:0.0:1.0:0.0	.	318;366;366;318;305;330	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	N	318;318;366;330;366;305	ENSP00000243643:H318N;ENSP00000439435:H318N;ENSP00000396492:H366N;ENSP00000395055:H330N;ENSP00000388787:H366N;ENSP00000414601:H305N	ENSP00000243643:H318N	H	-	1	0	ZNF415	58304158	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	4.240000	0.58701	1.460000	0.47911	0.491000	0.48974	CAT		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		9	93	1	0	0.00448238	0.004482	0.00477449	9	93				
VN1R4	317703	broad.mit.edu	37	19	53770147	53770147	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53770147G>T	ENST00000311170.4	-	1	825	c.772C>A	c.(772-774)Ctt>Att	p.L258I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	258					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L258I(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)		TTATCCAAAAGAGCCATACAA	0.478										HNSCC(26;0.072)																													uc010ydu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(772-774)CTT>ATT		vomeronasal 1 receptor 4							60.0	55.0	57.0					19																	53770147		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770147G>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.772C>A	19.37:g.53770147G>T	ENSP00000310856:p.Leu258Ile	HNSCC(26;0.072)					p.L258I	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	772	-			258			Extracellular (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.772C>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	6.846	0.525437	0.13066	.	.	ENSG00000228567	ENST00000311170	T	0.09817	2.94	2.28	-4.55	0.03441	GPCR, rhodopsin-like superfamily (1);	0.845194	0.09651	N	0.773692	T	0.11239	0.0274	L	0.48986	1.54	0.09310	N	1	P	0.37824	0.609	B	0.43251	0.413	T	0.07986	-1.0744	10	0.48119	T	0.1	.	5.2648	0.15593	0.1001:0.5227:0.2451:0.1321	.	258	Q7Z5H5	VN1R4_HUMAN	I	258	ENSP00000310856:L258I	ENSP00000310856:L258I	L	-	1	0	VN1R4	58461959	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.564000	0.00113	-2.088000	0.00861	-0.336000	0.08194	CTT		0.478	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		21	48	1	0	2.89027e-11	0.002299	4.01756e-11	21	48				
CACNG7	59284	broad.mit.edu	37	19	54444824	54444824	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:54444824C>T	ENST00000391767.1	+	5	737	c.525C>T	c.(523-525)taC>taT	p.Y175Y	CACNG7_ENST00000391766.1_Silent_p.Y175Y|CACNG7_ENST00000222212.2_Silent_p.Y175Y|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	175					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y175Y(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATTATCGCTACGGGTGGTCTT	0.537																																							uc002qcr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(523-525)TAC>TAT		voltage-dependent calcium channel gamma-7							168.0	147.0	154.0					19																	54444824		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444824C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.525C>T	19.37:g.54444824C>T						CACNG7_uc010era.1_Silent_p.Y175Y	p.Y175Y	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	540	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		175					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.525C>T	CCDS12868.1																																																																																				0.537	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			27	165	0	0	0	0.00632	0	27	165				
SYT5	6861	broad.mit.edu	37	19	55687098	55687098	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55687098A>T	ENST00000354308.3	-	5	888	c.519T>A	c.(517-519)ttT>ttA	p.F173L	SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Missense_Mutation_p.F173L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.F170L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	173	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.F173L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTCTCCCCAAAGTGAGGGT	0.622																																							uc002qjm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TTT>TTA		synaptotagmin V							129.0	119.0	123.0					19																	55687098		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687098A>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.519T>A	19.37:g.55687098A>T	ENSP00000346265:p.Phe173Leu					SYT5_uc002qjp.2_Missense_Mutation_p.F170L|SYT5_uc002qjn.1_Missense_Mutation_p.F173L|SYT5_uc002qjo.1_Missense_Mutation_p.F173L	p.F173L	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	1579	-			173			Cytoplasmic (Potential).|C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.519T>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653470	0.88056	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.72051	-0.62;-0.62	4.54	0.0687	0.14371	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85822	0.5786	H	0.95816	3.725	0.43065	D	0.994697	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.85130	0.997;0.883;0.992	D	0.85061	0.0934	10	0.87932	D	0	.	8.969	0.35894	0.5818:0.0:0.4182:0.0	.	170;173;173	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	L	173;173;170	ENSP00000442896:F173L;ENSP00000346265:F173L	ENSP00000346265:F173L	F	-	3	2	SYT5	60378910	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.811000	0.38942	0.012000	0.14892	-0.421000	0.06004	TTT		0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		15	110	0	0	0	0.003163	0	15	110				
SYT5	6861	broad.mit.edu	37	19	55689649	55689649	+	Missense_Mutation	SNP	C	C	T	rs373346720		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55689649C>T	ENST00000354308.3	-	3	536	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	SYT5_ENST00000537500.1_Missense_Mutation_p.R56Q|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	56					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R56Q(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGTCCGCCTCCGACAGCTCTT	0.627																																							uc002qjm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CGG>CAG		synaptotagmin V		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	27.0	25.0	25.0		167	3.0	1.0	19		25	0,8600		0,0,4300	no	missense	SYT5	NM_003180.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	56/387	55689649	2,13004	2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689649C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.167G>A	19.37:g.55689649C>T	ENSP00000346265:p.Arg56Gln					SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.R56Q|SYT5_uc002qjo.1_Missense_Mutation_p.R56Q	p.R56Q	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	2	1227	-			56			Cytoplasmic (Potential).		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.167G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087931	0.36855	4.54E-4	0.0	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.52983	0.64;0.64	4.06	3.0	0.34707	.	0.202695	0.42053	D	0.000774	T	0.38241	0.1033	L	0.54323	1.7	0.38788	D	0.954918	P;P	0.42692	0.787;0.707	B;B	0.35353	0.046;0.201	T	0.36866	-0.9730	10	0.24483	T	0.36	.	13.2484	0.60036	0.0:0.838:0.162:0.0	.	56;56	Q4FD32;O00445	.;SYT5_HUMAN	Q	56	ENSP00000442896:R56Q;ENSP00000346265:R56Q	ENSP00000346265:R56Q	R	-	2	0	SYT5	60381461	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	2.077000	0.41557	0.996000	0.38943	-0.305000	0.09177	CGG		0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		11	9	0	0	0	0.001368	0	11	9				
BRSK1	84446	broad.mit.edu	37	19	55817686	55817686	+	Missense_Mutation	SNP	G	G	T	rs370734031		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55817686G>T	ENST00000309383.1	+	17	2234	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	BRSK1_ENST00000326848.7_Missense_Mutation_p.G348C|BRSK1_ENST00000590333.1_Missense_Mutation_p.G669C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	653					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G653C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCCAGTGGCGGCCCCTCCGT	0.652																																							uc002qkg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1957-1959)GGC>TGC		BR serine/threonine kinase 1							61.0	60.0	60.0					19																	55817686		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55817686G>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1957G>T	19.37:g.55817686G>T	ENSP00000310649:p.Gly653Cys					BRSK1_uc002qkf.2_Missense_Mutation_p.G669C|BRSK1_uc002qkh.2_Missense_Mutation_p.G348C	p.G653C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	17	2234	+		Renal(1328;0.245)	653					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1957G>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	18.09	3.547239	0.65311	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.79247	-1.25;1.31	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.72353	2.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.978;0.993	D	0.88718	0.3227	10	0.87932	D	0	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	653;669	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	653;348;348	ENSP00000310649:G653C;ENSP00000320853:G348C	ENSP00000310649:G653C	G	+	1	0	BRSK1	60509498	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.410000	0.80065	2.572000	0.86782	0.555000	0.69702	GGC		0.652	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		31	31	1	0	1.04594e-18	0.00623	1.59157e-18	31	31				
NLRP11	204801	broad.mit.edu	37	19	56303674	56303674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:56303674C>A	ENST00000589093.1	-	7	2599	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	NLRP11_ENST00000589824.2_Nonsense_Mutation_p.E782*|NLRP11_ENST00000592953.1_Nonsense_Mutation_p.E737*|NLRP11_ENST00000443188.1_Nonsense_Mutation_p.E836*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.E782*			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	836							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.E836*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TACTGAAGCTCCTCTAACTGA	0.483																																							uc010ygf.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2506-2508)GAG>TAG		NLR family, pyrin domain containing 11							159.0	141.0	147.0					19																	56303674		2203	4300	6503	SO:0001587	stop_gained	204801						ATP binding	g.chr19:56303674C>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2506G>T	19.37:g.56303674C>A	ENSP00000466285:p.Glu836*					NLRP11_uc002qlz.2_Nonsense_Mutation_p.E683*|NLRP11_uc002qmb.2_Nonsense_Mutation_p.E737*|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.E836*	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3217	-		Colorectal(82;0.0002)	836					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Nonsense_Mutation	SNP	ENST00000589093.1	37	c.2506G>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	42	9.489246	0.99186	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	2.18	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	7.9248	0.29867	0.0:1.0:0.0:0.0	.	.	.	.	X	836;782	.	ENSP00000353251:E782X	E	-	1	0	NLRP11	60995486	0.003000	0.15002	0.027000	0.17364	0.005000	0.04900	0.095000	0.15127	1.526000	0.49068	0.650000	0.86243	GAG		0.483	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		69	84	1	0	8.13855e-26	0.00361	1.32112e-25	69	84				
ZNF71	58491	broad.mit.edu	37	19	57132930	57132930	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57132930G>T	ENST00000328070.6	+	3	509	c.275G>T	c.(274-276)cGg>cTg	p.R92L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	92					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.R92L(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTCCCACCACGGCTGGACGAC	0.587																																							uc002qnm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(274-276)CGG>CTG		zinc finger protein 71							53.0	51.0	51.0					19																	57132930		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132930G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.275G>T	19.37:g.57132930G>T	ENSP00000328245:p.Arg92Leu						p.R92L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	513	+			92					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.275G>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364388	0.24684	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.01	-0.556	0.11803	.	.	.	.	.	T	0.05640	0.0148	N	0.20986	0.625	0.09310	N	1	B	0.24186	0.099	B	0.22152	0.038	T	0.37865	-0.9687	9	0.66056	D	0.02	.	6.4531	0.21914	0.1102:0.3781:0.5117:0.0	.	92	Q9NQZ8	ZNF71_HUMAN	L	92	ENSP00000328245:R92L	ENSP00000328245:R92L	R	+	2	0	ZNF71	61824742	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.005000	0.14395	-0.254000	0.11334	CGG		0.587	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		22	33	1	0	9.62636e-23	0.002299	1.53117e-22	22	33				
USP29	57663	broad.mit.edu	37	19	57640419	57640419	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57640419C>A	ENST00000254181.4	+	4	830	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	USP29_ENST00000598197.1_Missense_Mutation_p.L126M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	126					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L126M(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGGAATATGCTGAAGGAAAT	0.348																																							uc002qny.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(376-378)CTG>ATG		ubiquitin specific peptidase 29							65.0	61.0	62.0					19																	57640419		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640419C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.376C>A	19.37:g.57640419C>A	ENSP00000254181:p.Leu126Met						p.L126M	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	732	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	126						Missense_Mutation	SNP	ENST00000254181.4	37	c.376C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426585	0.11987	.	.	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.79	-1.75	0.08031	.	.	.	.	.	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	P	0.44281	0.831	B	0.34722	0.188	T	0.11966	-1.0566	9	0.35671	T	0.21	1.7803	0.316	0.00295	0.2187:0.3153:0.2148:0.2512	.	126	Q9HBJ7	UBP29_HUMAN	M	126	ENSP00000254181:L126M	ENSP00000254181:L126M	L	+	1	2	USP29	62332231	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.328000	0.08539	-0.189000	0.12847	CTG		0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			14	107	1	0	2.23348e-06	0.004007	2.66668e-06	14	107				
ZNF543	125919	broad.mit.edu	37	19	57839579	57839579	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57839579C>A	ENST00000321545.4	+	4	1094	c.749C>A	c.(748-750)aCt>aAt	p.T250N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	250					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.T250N(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATCCACACTGGGGAGAAG	0.502																																							uc002qoi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(748-750)ACT>AAT		zinc finger protein 543							68.0	67.0	67.0					19																	57839579		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839579C>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.749C>A	19.37:g.57839579C>A	ENSP00000322545:p.Thr250Asn						p.T250N	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1094	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	250					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.749C>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149071	0.37923	.	.	ENSG00000178229	ENST00000321545	T	0.26067	1.76	2.43	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34890	0.0913	L	0.31578	0.945	0.24917	N	0.992006	D	0.76494	0.999	D	0.74348	0.983	T	0.15150	-1.0447	9	0.66056	D	0.02	.	9.7421	0.40424	0.2097:0.7902:0.0:0.0	.	250	Q08ER8	ZN543_HUMAN	N	250	ENSP00000322545:T250N	ENSP00000322545:T250N	T	+	2	0	ZNF543	62531391	0.998000	0.40836	0.022000	0.16811	0.622000	0.37654	3.481000	0.53179	0.550000	0.28991	0.561000	0.74099	ACT		0.502	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		19	95	1	0	3.99206e-14	0.007413	5.8044e-14	19	95				
ZNF543	125919	broad.mit.edu	37	19	57839594	57839594	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57839594A>G	ENST00000321545.4	+	4	1109	c.764A>G	c.(763-765)tAt>tGt	p.Y255C		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	255					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.Y255C(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGAAGCCCTATAAGTGCATG	0.498																																							uc002qoi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(763-765)TAT>TGT		zinc finger protein 543							66.0	66.0	66.0					19																	57839594		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839594A>G	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.764A>G	19.37:g.57839594A>G	ENSP00000322545:p.Tyr255Cys						p.Y255C	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1109	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	255			C2H2-type 3.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.764A>G	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046505	0.36085	.	.	ENSG00000178229	ENST00000321545	T	0.25414	1.8	2.43	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49184	0.1542	M	0.77712	2.385	0.28963	N	0.889699	D	0.89917	1.0	D	0.91635	0.999	T	0.38672	-0.9650	9	0.87932	D	0	.	10.0321	0.42107	1.0:0.0:0.0:0.0	.	255	Q08ER8	ZN543_HUMAN	C	255	ENSP00000322545:Y255C	ENSP00000322545:Y255C	Y	+	2	0	ZNF543	62531406	0.000000	0.05858	0.118000	0.21660	0.503000	0.33858	0.107000	0.15375	1.365000	0.46057	0.459000	0.35465	TAT		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		3	101	0	0	0	0.004672	0	3	101				
ZNF8	7554	broad.mit.edu	37	19	58805952	58805952	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:58805952A>G	ENST00000196548.5	+	4	909	c.778A>G	c.(778-780)Act>Gct	p.T260A	ZNF8_ENST00000608843.1_Missense_Mutation_p.T260A|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	260					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T260A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTACAAATGTACTGACTGTGG	0.483																																							uc002qry.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(778-780)ACT>GCT		zinc finger protein 8							79.0	74.0	76.0					19																	58805952		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805952A>G	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.778A>G	19.37:g.58805952A>G	ENSP00000196548:p.Thr260Ala					ZNF8_uc002qrz.2_RNA	p.T260A	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	908	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	260			C2H2-type 1.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.778A>G	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610722	0.28712	.	.	ENSG00000083842	ENST00000196548	T	0.07216	3.21	4.82	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129918	0.35739	N	0.003010	T	0.07324	0.0185	M	0.64404	1.975	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.41305	-0.9516	10	0.13853	T	0.58	-7.2383	3.2731	0.06889	0.6527:0.0:0.1803:0.167	.	260	P17098	ZNF8_HUMAN	A	260	ENSP00000196548:T260A	ENSP00000196548:T260A	T	+	1	0	ZNF8	63497764	0.000000	0.05858	0.574000	0.28523	0.993000	0.82548	-3.517000	0.00444	0.379000	0.24794	0.524000	0.50904	ACT		0.483	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		13	42	0	0	0	0.00245	0	13	42				
SLC27A5	10998	broad.mit.edu	37	19	59021298	59021298	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:59021298T>C	ENST00000263093.2	-	3	1082	c.973A>G	c.(973-975)Aca>Gca	p.T325A	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T241A	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	325					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T325A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCATCAGCTGTGGCCCCAGAT	0.567																																							uc002qtc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(973-975)ACA>GCA		solute carrier family 27 (fatty acid							195.0	123.0	147.0					19																	59021298		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59021298T>C	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.973A>G	19.37:g.59021298T>C	ENSP00000263093:p.Thr325Ala						p.T325A	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	3	1083	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	325			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.973A>G	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	t	13.74	2.328501	0.41197	.	.	ENSG00000083807	ENST00000263093	T	0.52295	0.67	4.71	3.59	0.41128	AMP-dependent synthetase/ligase (1);	0.524747	0.19946	N	0.102524	T	0.34745	0.0908	L	0.45352	1.415	0.09310	N	1	P	0.40681	0.727	B	0.39935	0.314	T	0.10474	-1.0628	10	0.16896	T	0.51	-0.87	7.0475	0.25055	0.2017:0.0:0.0:0.7983	.	325	Q9Y2P5	S27A5_HUMAN	A	325	ENSP00000263093:T325A	ENSP00000263093:T325A	T	-	1	0	SLC27A5	63713110	0.000000	0.05858	0.008000	0.14137	0.741000	0.42261	0.588000	0.23924	2.077000	0.62373	0.397000	0.26171	ACA		0.567	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		31	37	0	0	0	0.002836	0	31	37				
KCNS3	3790	broad.mit.edu	37	2	18112296	18112296	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:18112296C>T	ENST00000403915.1	+	3	472	c.21C>T	c.(19-21)ttC>ttT	p.F7F	KCNS3_ENST00000304101.4_Silent_p.F7F|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	7					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.F7F(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTGAGTTTTTCCATCGCCCTG	0.527																																							uc002rcv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(19-21)TTC>TTT		potassium voltage-gated channel							87.0	87.0	87.0					2																	18112296		2203	4300	6503	SO:0001819	synonymous_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112296C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.21C>T	2.37:g.18112296C>T						KCNS3_uc002rcw.2_Silent_p.F7F	p.F7F	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	472	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		7			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	c.21C>T	CCDS1692.1																																																																																				0.527	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		33	69	0	0	0	0.005524	0	33	69				
APOB	338	broad.mit.edu	37	2	21227177	21227177	+	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:21227177G>A	ENST00000233242.1	-	28	12178	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4017					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.D4017D(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)					TAGAAAAGTCGTCATCTTCAT	0.512																																							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.(12049-12051)GAC>GAT		apolipoprotein B precursor	Atorvastatin(DB01076)	G		2,4404	4.2+/-10.8	0,2,2201	110.0	107.0	108.0		12051	-10.2	0.0	2	dbSNP_126	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4017/4564	21227177	3,13003	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.chr2:21227177G>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.12051C>T	2.37:g.21227177G>A							p.D4017D	NM_000384	NP_000375	P04114	APOB_HUMAN			28	12179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4017					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12051C>T	CCDS1703.1																																																																																				0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	64	0	0	0	0.007291	0	25	64				
APOB	338	broad.mit.edu	37	2	21233898	21233898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:21233898C>A	ENST00000233242.1	-	26	5969	c.5842G>T	c.(5842-5844)Ggc>Tgc	p.G1948C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1948					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.G1948C(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)					CTTGTGGAGCCTTTGTAATCA	0.483																																							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.(5842-5844)GGC>TGC		apolipoprotein B precursor	Atorvastatin(DB01076)						172.0	162.0	165.0					2																	21233898		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.chr2:21233898C>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.5842G>T	2.37:g.21233898C>A	ENSP00000233242:p.Gly1948Cys						p.G1948C	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5970	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1948					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5842G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005782	0.74932	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00801	5.68	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000036	T	0.06096	0.0158	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.08534	-1.0717	10	0.66056	D	0.02	.	19.2954	0.94119	0.0:1.0:0.0:0.0	.	1948	P04114	APOB_HUMAN	C	1948	ENSP00000233242:G1948C	ENSP00000233242:G1948C	G	-	1	0	APOB	21087403	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.938000	0.63519	2.554000	0.86153	0.555000	0.69702	GGC		0.483	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	309	1	0	2.74318e-10	0.006214	3.74717e-10	10	309				
PPM1G	5496	broad.mit.edu	37	2	27608704	27608704	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:27608704T>A	ENST00000344034.4	-	4	583	c.319A>T	c.(319-321)Act>Tct	p.T107S	PPM1G_ENST00000350803.4_Missense_Mutation_p.T107S	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	107					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.T107S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACTTCTTCAGTGGTCAATTTG	0.408																																							uc002rkl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)ACT>TCT		protein phosphatase 1G							116.0	107.0	110.0					2																	27608704		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27608704T>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.319A>T	2.37:g.27608704T>A	ENSP00000342778:p.Thr107Ser					PPM1G_uc002rkm.2_5'UTR	p.T107S	NM_002707	NP_002698	O15355	PPM1G_HUMAN			5	426	-	Acute lymphoblastic leukemia(172;0.155)		107						Missense_Mutation	SNP	ENST00000344034.4	37	c.319A>T	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920949	0.73213	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.15718	2.4;2.4	5.75	5.75	0.90469	Protein phosphatase 2C-like (5);	0.149401	0.64402	D	0.000012	T	0.14184	0.0343	N	0.05554	-0.025	0.47994	D	0.999567	D	0.59767	0.986	P	0.56563	0.801	T	0.19484	-1.0304	10	0.09084	T	0.74	-10.4089	10.9685	0.47426	0.0:0.0:0.1563:0.8437	.	107	O15355	PPM1G_HUMAN	S	107;107;90	ENSP00000342778:T107S;ENSP00000264714:T107S	ENSP00000342778:T107S	T	-	1	0	PPM1G	27462208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.682000	0.61671	2.201000	0.70794	0.533000	0.62120	ACT		0.408	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		12	69	0	0	0	0.000978	0	12	69				
ALK	238	broad.mit.edu	37	2	29917880	29917881	+	Splice_Site	DNP	CC	CC	AT	rs374016589		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:29917880_29917881CC>AT	ENST00000389048.3	-	3	1694	c.788_788GG>AT	c.(787-789)gGGg>gATgg	p.G263D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	263					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.?(2)	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)	GCACTCCAGACCTGCAATAATA	0.554			"""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)	2	Unknown(2)		lung(2)	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.e3-1		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)																																			SO:0001630	splice_region_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.chr2:29917880_29917881CC>AT	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.788_788delinsAT	2.37:g.29917880_29917881delinsAT							p.G263_splice	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			3	1695	-	Acute lymphoblastic leukemia(172;0.155)							Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Splice_Site	DNP	ENST00000389048.3	37	c.788_splice	CCDS33172.1																																																																																				0.554	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Missense_Mutation	23	84	0	0	0	0.004672	0	23	84				
SLC8A1	6546	broad.mit.edu	37	2	40657101	40657101	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:40657101G>A	ENST00000403092.1	-	2	353	c.320C>T	c.(319-321)aCa>aTa	p.T107I	SLC8A1_ENST00000332839.4_Missense_Mutation_p.T107I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T107I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T107I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	107					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T107I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTGAGATGTGATGACTTC	0.398																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(319-321)ACA>ATA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						121.0	124.0	123.0					2																	40657101		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657101G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.320C>T	2.37:g.40657101G>A	ENSP00000384763:p.Thr107Ile					SLC8A1_uc002rry.2_Missense_Mutation_p.T107I|SLC8A1_uc002rrz.2_Missense_Mutation_p.T107I|SLC8A1_uc002rsa.2_Missense_Mutation_p.T107I|SLC8A1_uc002rsd.3_Missense_Mutation_p.T107I|SLC8A1_uc002rsb.1_Missense_Mutation_p.T107I|SLC8A1_uc010fan.1_Missense_Mutation_p.T107I|SLC8A1_uc002rsc.1_Missense_Mutation_p.T107I	p.T107I	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	344	-			107			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.320C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671729	0.67928	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.994;0.997;0.997	D	0.84359	0.0537	10	0.87932	D	0	.	17.1057	0.86662	0.0:0.0:1.0:0.0	.	107;107;107;107;107	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	I	107	ENSP00000383886:T107I;ENSP00000440727:T107I;ENSP00000384763:T107I;ENSP00000385678:T107I;ENSP00000385188:T107I;ENSP00000385535:T107I;ENSP00000332931:T107I;ENSP00000384908:T107I;ENSP00000385811:T107I;ENSP00000443515:T107I	ENSP00000332931:T107I	T	-	2	0	SLC8A1	40510605	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.669000	0.98622	2.648000	0.89879	0.563000	0.77884	ACA		0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		31	187	0	0	0	0.008361	0	31	187				
NRXN1	9378	broad.mit.edu	37	2	50765619	50765619	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:50765619C>T	ENST00000406316.2	-	10	3391	c.1915G>A	c.(1915-1917)Ggc>Agc	p.G639S	NRXN1_ENST00000406859.3_Missense_Mutation_p.G639S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.G631S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G639S|NRXN1_ENST00000402717.3_Missense_Mutation_p.G631S|NRXN1_ENST00000404971.1_Missense_Mutation_p.G679S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	639	Laminin G-like 3. {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.G680S(1)|p.G679S(1)|p.G639S(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)			CCCACGTAGCCATAGTTGAGC	0.522																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2035-2037)GGC>AGC		neurexin 1 isoform alpha2 precursor							162.0	175.0	170.0					2																	50765619		2200	4300	6500	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.chr2:50765619C>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.1915G>A	2.37:g.50765619C>T	ENSP00000384311:p.Gly639Ser					NRXN1_uc002rxb.3_Missense_Mutation_p.G311S|NRXN1_uc002rxe.3_Missense_Mutation_p.G639S|NRXN1_uc002rxc.1_RNA	p.G679S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3512	-		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.2035G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321644	0.95682	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	L	0.58810	1.83	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87135	0.2199	10	0.44086	T	0.13	.	18.8479	0.92215	0.0:1.0:0.0:0.0	.	679;639;631	Q9ULB1-3;F8WB18;A7E294	.;.;.	S	679;639;631;639;680;631;639	ENSP00000385142:G679S;ENSP00000384311:G639S;ENSP00000434015:G631S;ENSP00000385017:G639S;ENSP00000385434:G631S;ENSP00000385681:G639S	ENSP00000385017:G639S	G	-	1	0	NRXN1	50619123	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.651000	0.83577	2.682000	0.91365	0.585000	0.79938	GGC		0.522	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			51	177	0	0	0	0.00361	0	51	177				
BCL11A	53335	broad.mit.edu	37	2	60687791	60687791	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:60687791C>T	ENST00000335712.6	-	4	2483	c.2256G>A	c.(2254-2256)aaG>aaA	p.K752K	BCL11A_ENST00000358510.4_Silent_p.K718K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.K718K|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	752					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.K752K(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCTACAGTTCTTGAAGACTT	0.562			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2254-2256)AAG>AAA		B-cell CLL/lymphoma 11A isoform 1							121.0	125.0	123.0					2																	60687791		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687791C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2256G>A	2.37:g.60687791C>T						BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.K718K|BCL11A_uc002sad.1_Silent_p.K600K|BCL11A_uc002saf.1_Silent_p.K718K	p.K752K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2484	-			752			C2H2-type 4.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2256G>A	CCDS1862.1																																																																																				0.562	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		50	96	0	0	0	0.00361	0	50	96				
OTX1	5013	broad.mit.edu	37	2	63283009	63283009	+	Missense_Mutation	SNP	G	G	A	rs375731189		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:63283009G>A	ENST00000282549.2	+	5	899	c.623G>A	c.(622-624)cGc>cAc	p.R208H	OTX1_ENST00000366671.3_Missense_Mutation_p.R208H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	208					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R208H(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGTATGCAGCGCTCCGTAGCT	0.682																																							uc002scd.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(622-624)CGC>CAC		orthodenticle homeobox 1		G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	17.0	19.0	18.0		623,623	3.4	1.0	2		18	2,8586		0,2,4292	no	missense,missense	OTX1	NM_001199770.1,NM_014562.3	29,29	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	208/355,208/355	63283009	2,12986	2200	4294	6494	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283009G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.623G>A	2.37:g.63283009G>A	ENSP00000282549:p.Arg208His					OTX1_uc010ypt.1_Missense_Mutation_p.R142H	p.R208H	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	871	+	Lung NSC(7;0.121)|all_lung(7;0.211)		208					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.623G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304011	0.60305	0.0	2.33E-4	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.91124	-2.79;-2.79	3.41	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.93327	0.7873	M	0.68952	2.095	0.53688	D	0.999973	D	0.71674	0.998	D	0.67900	0.954	D	0.92700	0.6174	10	0.42905	T	0.14	.	12.6775	0.56903	0.0:0.0:1.0:0.0	.	208	P32242	OTX1_HUMAN	H	208	ENSP00000355631:R208H;ENSP00000282549:R208H	ENSP00000282549:R208H	R	+	2	0	OTX1	63136513	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.277000	0.78572	1.901000	0.55032	0.462000	0.41574	CGC		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			3	7	0	0	0	0.004672	0	3	7				
DYSF	8291	broad.mit.edu	37	2	71766288	71766288	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:71766288G>T	ENST00000258104.3	+	16	1676	c.1399G>T	c.(1399-1401)Gac>Tac	p.D467Y	DYSF_ENST00000409744.1_Splice_Site_p.D468Y|DYSF_ENST00000394120.2_Splice_Site_p.D468Y|DYSF_ENST00000409582.3_Splice_Site_p.D498Y|DYSF_ENST00000409651.1_Splice_Site_p.D499Y|DYSF_ENST00000410041.1_Splice_Site_p.D499Y|DYSF_ENST00000413539.2_Splice_Site_p.D498Y|DYSF_ENST00000409762.1_Splice_Site_p.D498Y|DYSF_ENST00000410020.3_Splice_Site_p.D499Y|DYSF_ENST00000429174.2_Splice_Site_p.D467Y|DYSF_ENST00000409366.1_Splice_Site_p.D468Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	467	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.D499Y(1)|p.D467Y(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGCTCTAGGGACCGCCTGAC	0.557																																							uc002sie.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1399-1401)GAC>TAC		dysferlin isoform 8							145.0	122.0	130.0					2																	71766288		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71766288G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1398-1G>T	2.37:g.71766288G>T						DYSF_uc010feg.2_Missense_Mutation_p.D498Y|DYSF_uc010feh.2_Missense_Mutation_p.D467Y|DYSF_uc002sig.3_Missense_Mutation_p.D467Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D467Y|DYSF_uc010fef.2_Missense_Mutation_p.D498Y|DYSF_uc010fei.2_Missense_Mutation_p.D498Y|DYSF_uc010fek.2_Missense_Mutation_p.D499Y|DYSF_uc010fej.2_Missense_Mutation_p.D468Y|DYSF_uc010fel.2_Missense_Mutation_p.D468Y|DYSF_uc010feo.2_Missense_Mutation_p.D499Y|DYSF_uc010fem.2_Missense_Mutation_p.D468Y|DYSF_uc010fen.2_Missense_Mutation_p.D499Y|DYSF_uc002sif.2_Missense_Mutation_p.D468Y	p.D467Y	NM_003494	NP_003485	O75923	DYSF_HUMAN			16	1775	+			467			Cytoplasmic (Potential).|C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1399G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322052	0.60634	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.05	5.05	0.67936	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	0.93710	0.7990	H	0.95504	3.68	0.54753	D	0.999988	D;D;D;D;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;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.998;0.998;0.998;0.99;0.999;0.998;1.0;0.998;0.999;0.999	D	0.95070	0.8203	10	0.87932	D	0	-37.3364	16.309	0.82862	0.0:0.0:1.0:0.0	.	499;499;468;468;499;468;498;467;498;498;467;467;468;467	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Y	498;498;498;467;467;499;468;468;468;499;499	ENSP00000407046:D498Y;ENSP00000387137:D498Y;ENSP00000386547:D498Y;ENSP00000398305:D467Y;ENSP00000258104:D467Y;ENSP00000386683:D499Y;ENSP00000377678:D468Y;ENSP00000386285:D468Y;ENSP00000386512:D468Y;ENSP00000386881:D499Y;ENSP00000386617:D499Y	ENSP00000258104:D467Y	D	+	1	0	DYSF	71619796	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	7.805000	0.86005	2.786000	0.95864	0.563000	0.77884	GAC		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation	9	91	1	0	6.40141e-05	0.000978	7.33801e-05	9	91				
SMYD5	10322	broad.mit.edu	37	2	73449044	73449044	+	Nonsense_Mutation	SNP	G	G	T	rs140745382	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:73449044G>T	ENST00000389501.4	+	6	673	c.628G>T	c.(628-630)Gga>Tga	p.G210*	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	210	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G210*(1)|p.G94*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TAAACTTCTGGGAGACAAATT	0.473																																							uc002siw.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(628-630)GGA>TGA		SMYD family member 5							118.0	117.0	118.0					2																	73449044		2203	4300	6503	SO:0001587	stop_gained	10322						metal ion binding	g.chr2:73449044G>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.628G>T	2.37:g.73449044G>T	ENSP00000374152:p.Gly210*					SMYD5_uc010yre.1_Nonsense_Mutation_p.G94*|SMYD5_uc002six.1_5'Flank	p.G210*	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			6	657	+			210					D6W5H3|Q13558	Nonsense_Mutation	SNP	ENST00000389501.4	37	c.628G>T	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847589	0.91277	.	.	ENSG00000135632	ENST00000389501	.	.	.	5.55	3.73	0.42828	.	0.103791	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-16.022	11.4527	0.50162	0.1492:0.0:0.8508:0.0	.	.	.	.	X	210	.	ENSP00000374152:G210X	G	+	1	0	SMYD5	73302552	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.265000	0.78442	0.805000	0.34159	0.650000	0.86243	GGA		0.473	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		12	108	1	0	2.48551e-13	0.00499	3.59186e-13	12	108				
Unknown	0	broad.mit.edu	37	2	73927988	73927988	+	IGR	SNP	G	G	T	rs200537723		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:73927988G>T								ALMS1P (15285 upstream) : TPRKB (28968 downstream)																							CCCTGACCACGGTGCTCATTG	0.562																																							uc002sjk.1		NA																	0					0						c.(445-447)CGT>AGT		N-acetyltransferase 8B							73.0	77.0	76.0					2																	73927988		2203	4300	6503	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73927988G>T																													2.37:g.73927988G>T							p.R149S	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			2	480	-			149			N-acetyltransferase.			Missense_Mutation	SNP		37	c.445C>A																																																																																				0	0.562									5	79	1	0	0.000157383	0.00308	0.000176986	5	79				
LRRTM4	80059	broad.mit.edu	37	2	77746271	77746271	+	Missense_Mutation	SNP	G	G	T	rs200699710		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:77746271G>T	ENST00000409093.1	-	3	1060	c.724C>A	c.(724-726)Cgc>Agc	p.R242S	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R242S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242					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.R242S(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)		CTAATGGAGCGAATCCTGTTC	0.448																																							uc002snr.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(724-726)CGC>AGC		leucine rich repeat transmembrane neuronal 4							57.0	54.0	55.0					2																	77746271		1892	4100	5992	SO:0001583	missense	80059					integral to membrane		g.chr2:77746271G>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.724C>A	2.37:g.77746271G>T	ENSP00000386357:p.Arg242Ser					LRRTM4_uc002snq.2_Missense_Mutation_p.R242S|LRRTM4_uc002sns.2_Missense_Mutation_p.R242S|LRRTM4_uc002snt.2_Missense_Mutation_p.R243S	p.R242S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1139	-			242			LRR 8.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.724C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	0.573	-0.840525	0.02692	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.93	5.93	0.95920	.	0.133674	0.50627	D	0.000114	T	0.24967	0.0606	N	0.00661	-1.28	0.44908	D	0.997929	B;B;P	0.39480	0.417;0.167;0.675	B;B;B	0.40659	0.224;0.143;0.336	T	0.42137	-0.9469	10	0.07325	T	0.83	.	18.9104	0.92481	0.0:0.0:1.0:0.0	.	243;242;242	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	243;242;242;242;243	ENSP00000387228:R243S;ENSP00000387297:R242S;ENSP00000386357:R242S;ENSP00000386236:R242S;ENSP00000386286:R243S	ENSP00000386236:R242S	R	-	1	0	LRRTM4	77599779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.930000	0.56522	2.798000	0.96311	0.655000	0.94253	CGC		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	30	1	0	1.024e-07	0.000602	1.27899e-07	5	30				
REG3G	130120	broad.mit.edu	37	2	79254299	79254299	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:79254299T>A	ENST00000272324.5	+	4	517		c.e4+2		REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Splice_Site	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma						acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCACACAGGTGCGAGTATAT	0.557																																							uc002snw.2		NA																	2	Unknown(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.e4+2		regenerating islet-derived 3 gamma precursor							126.0	111.0	116.0					2																	79254299		2203	4300	6503	SO:0001630	splice_region_variant	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254299T>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.333+2T>A	2.37:g.79254299T>A						REG3G_uc002snx.2_Splice_Site_p.Q111_splice|REG3G_uc010ffu.2_Intron	p.Q111_splice	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	418	+								A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Splice_Site	SNP	ENST00000272324.5	37	c.333_splice	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	T	9.957	1.221649	0.22457	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	.	.	.	4.83	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.22629	N	0.998919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7788	0.29054	0.1856:0.0:0.0:0.8144	.	.	.	.	.	-1	.	.	.	+	.	.	REG3G	79107807	0.987000	0.35691	0.065000	0.19835	0.022000	0.10575	2.982000	0.49337	0.933000	0.37291	0.533000	0.62120	.		0.557	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448	Intron	10	98	0	0	0	0.004007	0	10	98				
REG3A	5068	broad.mit.edu	37	2	79384785	79384785	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:79384785T>A	ENST00000409839.3	-	5	409	c.373A>T	c.(373-375)Agt>Tgt	p.S125C	REG3A_ENST00000393878.1_Missense_Mutation_p.S125C|REG3A_ENST00000305165.2_Missense_Mutation_p.S125C|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.S125C(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCACATCACTGCTACTCCAC	0.542																																							uc002sod.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(373-375)AGT>TGT		pancreatitis-associated protein precursor							134.0	126.0	129.0					2																	79384785		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384785T>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.373A>T	2.37:g.79384785T>A	ENSP00000386630:p.Ser125Cys					REG3A_uc002soe.1_Missense_Mutation_p.S125C|REG3A_uc002sof.1_Missense_Mutation_p.S125C	p.S125C	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	628	-			125			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.373A>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431716	0.43122	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19938	2.11;2.11;2.11	3.87	-6.65	0.01795	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.522520	0.01365	N	0.012378	T	0.23688	0.0573	L	0.60455	1.87	0.09310	N	1	P	0.46512	0.879	P	0.45660	0.489	T	0.47471	-0.9115	10	0.72032	D	0.01	.	5.6081	0.17391	0.2851:0.4754:0.0:0.2395	.	125	Q06141	REG3A_HUMAN	C	125	ENSP00000386630:S125C;ENSP00000377456:S125C;ENSP00000304311:S125C	ENSP00000304311:S125C	S	-	1	0	REG3A	79238293	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.180000	0.00569	-1.433000	0.01977	-0.669000	0.03829	AGT		0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		7	133	0	0	0	0.001984	0	7	133				
CTNNA2	1496	broad.mit.edu	37	2	80136743	80136743	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:80136743G>C	ENST00000402739.4	+	6	881	c.876G>C	c.(874-876)atG>atC	p.M292I	CTNNA2_ENST00000361291.4_Missense_Mutation_p.M326I|CTNNA2_ENST00000466387.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M292I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	292					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.M292I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGACCCCATGACGTTCAGCG	0.562																																							uc010ysh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(874-876)ATG>ATC		catenin, alpha 2 isoform 1							61.0	64.0	63.0					2																	80136743		1979	4187	6166	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136743G>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.876G>C	2.37:g.80136743G>C	ENSP00000384638:p.Met292Ile					CTNNA2_uc010yse.1_Missense_Mutation_p.M292I|CTNNA2_uc010ysf.1_Missense_Mutation_p.M292I|CTNNA2_uc010ysg.1_Missense_Mutation_p.M292I	p.M292I	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	881	+			292					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.876G>C		.	.	.	.	.	.	.	.	.	.	G	12.44	1.938272	0.34189	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.69	5.69	0.88448	.	0.060111	0.64402	D	0.000002	T	0.27384	0.0672	N	0.20685	0.6	0.48288	D	0.999628	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06807	-1.0806	10	0.17832	T	0.49	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	292;292;292	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	I	292;292;326;292;292;292	ENSP00000418191:M292I;ENSP00000419295:M292I;ENSP00000355398:M326I;ENSP00000384638:M292I;ENSP00000444675:M292I;ENSP00000441705:M292I	ENSP00000355398:M326I	M	+	3	0	CTNNA2	79990251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.854000	0.86942	2.699000	0.92147	0.655000	0.94253	ATG		0.562	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		21	167	0	0	0	0.00632	0	21	167				
ASTL	431705	broad.mit.edu	37	2	96799710	96799710	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:96799710T>C	ENST00000342380.2	-	4	330	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.K111E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCACCGTACTTGCTGGAGAGC	0.582																																							uc010yui.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)AAG>GAG		astacin-like metalloendopeptidase precursor							135.0	89.0	105.0					2																	96799710		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799710T>C	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.331A>G	2.37:g.96799710T>C	ENSP00000343674:p.Lys111Glu						p.K111E	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			4	331	-			111						Missense_Mutation	SNP	ENST00000342380.2	37	c.331A>G	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	T	8.553	0.876032	0.17395	.	.	ENSG00000188886	ENST00000342380	T	0.62498	0.02	5.0	2.52	0.30459	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.339490	0.20551	N	0.090119	T	0.35335	0.0928	N	0.11560	0.145	0.27198	N	0.960247	B	0.24618	0.107	B	0.26693	0.072	T	0.19095	-1.0316	10	0.15066	T	0.55	-6.337	4.9242	0.13885	0.0:0.104:0.1842:0.7118	.	111	Q6HA08	ASTL_HUMAN	E	111	ENSP00000343674:K111E	ENSP00000343674:K111E	K	-	1	0	ASTL	96163437	0.878000	0.30173	0.669000	0.29828	0.433000	0.31745	0.333000	0.19768	0.295000	0.22570	0.524000	0.50904	AAG		0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			21	36	0	0	0	0.004656	0	21	36				
ITPRIPL1	150771	broad.mit.edu	37	2	96993504	96993504	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:96993504C>T	ENST00000439118.2	+	3	1386	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	ITPRIPL1_ENST00000536814.1_Silent_p.L371L|ITPRIPL1_ENST00000361124.4_Silent_p.L387L|ITPRIPL1_ENST00000542887.1_Silent_p.L371L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	379						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L387L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTGGTCTACCTGGTGAGTCA	0.597																																							uc002svx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1135-1137)CTG>TTG		inositol 1,4,5-triphosphate receptor interacting							64.0	65.0	65.0					2																	96993504		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96993504C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1135C>T	2.37:g.96993504C>T						ITPRIPL1_uc010yuk.1_Silent_p.L371L|ITPRIPL1_uc002svy.2_Silent_p.L387L|ITPRIPL1_uc010yul.1_Silent_p.L371L	p.L379L	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1470	+			379			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.1135C>T	CCDS46360.1																																																																																				0.597	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		14	112	0	0	0	0.004007	0	14	112				
CNNM4	26504	broad.mit.edu	37	2	97427550	97427550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:97427550G>T	ENST00000377075.2	+	1	912	c.814G>T	c.(814-816)Gtg>Ttg	p.V272L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	272	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.V272L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTCATGGCGGTGGCCTCCTC	0.587																																							uc002swx.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(814-816)GTG>TTG		cyclin M4							149.0	143.0	145.0					2																	97427550		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427550G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.814G>T	2.37:g.97427550G>T	ENSP00000366275:p.Val272Leu						p.V272L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			1	912	+			272			Helical; (Potential).|DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.814G>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873350	0.91664	.	.	ENSG00000158158	ENST00000377075	D	0.88201	-2.35	5.02	5.02	0.67125	Domain of unknown function DUF21 (1);	0.141513	0.46442	D	0.000292	D	0.92854	0.7727	M	0.66506	2.035	0.80722	D	1	D	0.56746	0.977	D	0.65323	0.934	D	0.92164	0.5738	10	0.38643	T	0.18	-0.7391	15.8499	0.78921	0.0:0.0:1.0:0.0	.	272	Q6P4Q7	CNNM4_HUMAN	L	272	ENSP00000366275:V272L	ENSP00000366275:V272L	V	+	1	0	CNNM4	96791277	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.582000	0.98214	2.327000	0.79052	0.651000	0.88453	GTG		0.587	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	124	1	0	0.000274275	0.004482	0.000305179	9	124				
RGPD3	653489	broad.mit.edu	37	2	107032375	107032375	+	Missense_Mutation	SNP	A	A	C	rs577151300		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:107032375A>C	ENST00000409886.3	-	21	5082	c.4995T>G	c.(4993-4995)agT>agG	p.S1665R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1665R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1665					protein targeting to Golgi (GO:0000042)			p.S1665R(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGTGATCTGCACTTTTTGTGG	0.403																																							uc010ywi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4993-4995)AGT>AGG		RANBP2-like and GRIP domain containing 3							54.0	55.0	55.0					2																	107032375		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107032375A>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4995T>G	2.37:g.107032375A>C	ENSP00000386588:p.Ser1665Arg						p.S1665R	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			21	5052	-			1665					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.4995T>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.888	0.164989	0.09339	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.38722	1.12;1.12	0.701	0.701	0.18104	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.24121	N	0.9958	B	0.24576	0.106	B	0.15484	0.013	T	0.15065	-1.0450	9	0.42905	T	0.14	-1.18	2.7306	0.05226	0.6703:0.0:0.3297:0.0	.	1665	A6NKT7	RGPD3_HUMAN	R	39;1665;1032;1665	ENSP00000386588:S1665R;ENSP00000303659:S1665R	ENSP00000303659:S1665R	S	-	3	2	RGPD3	106398807	1.000000	0.71417	0.995000	0.50966	0.348000	0.29142	0.832000	0.27490	0.561000	0.29186	0.138000	0.15974	AGT		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		33	210	0	0	0	0.004878	0	33	210				
SEPT10	151011	broad.mit.edu	37	2	110310790	110310790	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:110310790T>C	ENST00000397712.2	-	9	1413	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	SEPT10_ENST00000397714.2_Silent_p.Q322Q|SEPT10_ENST00000334001.6_Silent_p.Q212Q|SEPT10_ENST00000545389.1_Silent_p.Q178Q|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000437928.1_Silent_p.Q330Q|SEPT10_ENST00000415095.1_Silent_p.Q345Q|SEPT10_ENST00000356688.4_Silent_p.Q345Q	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	345					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.Q322Q(1)|p.Q345Q(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATAGGTCTCTTGAACACTAA	0.443																																							uc002tew.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1033-1035)CAA>CAG		septin 10 isoform 1							130.0	121.0	124.0					2																	110310790		1890	4108	5998	SO:0001819	synonymous_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110310790T>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1035A>G	2.37:g.110310790T>C						SEPT10_uc010ywu.1_Silent_p.Q178Q|SEPT10_uc002tex.2_Silent_p.Q322Q|SEPT10_uc002tey.2_Silent_p.Q345Q|SEPT10_uc010ywv.1_Silent_p.Q211Q|SEPT10_uc002tev.1_Silent_p.Q152Q|SEPT10_uc010fjo.2_Intron	p.Q345Q	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			9	1414	-			345					B3KRQ9|Q86VP5|Q9HAH6	Silent	SNP	ENST00000397712.2	37	c.1035A>G	CCDS46383.1																																																																																				0.443	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		23	129	0	0	0	0.002299	0	23	129				
CKAP2L	150468	broad.mit.edu	37	2	113513676	113513676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:113513676C>A	ENST00000302450.6	-	4	1350	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	CKAP2L_ENST00000541405.1_Missense_Mutation_p.K259N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	424						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K424N(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGGAACAGCCTTTTTCAACT	0.408																																							uc002tie.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)AAG>AAT		cytoskeleton associated protein 2-like							234.0	233.0	234.0					2																	113513676		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513676C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1272G>T	2.37:g.113513676C>A	ENSP00000305204:p.Lys424Asn					CKAP2L_uc002tif.2_Missense_Mutation_p.K13N|CKAP2L_uc010yxp.1_Missense_Mutation_p.K259N|CKAP2L_uc010yxq.1_Missense_Mutation_p.K259N	p.K424N	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	1351	-			424					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1272G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	8.626	0.892613	0.17613	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.25414	1.8;1.8	5.25	0.233	0.15386	.	1.665990	0.03035	N	0.152679	T	0.21550	0.0519	L	0.57536	1.79	0.09310	N	1	B;P	0.36535	0.144;0.557	B;B	0.31101	0.087;0.124	T	0.14392	-1.0474	10	0.37606	T	0.19	2.0979	1.4724	0.02418	0.1487:0.4613:0.1442:0.2457	.	13;424	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	N	259;424	ENSP00000438763:K259N;ENSP00000305204:K424N	ENSP00000305204:K424N	K	-	3	2	CKAP2L	113230147	0.000000	0.05858	0.000000	0.03702	0.897000	0.52465	0.104000	0.15313	-0.060000	0.13132	0.585000	0.79938	AAG		0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		73	479	1	0	3.4887e-51	0.00361	5.8227e-51	73	479				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		4	26	0	0	0	0.009096	0	4	26				
CNTNAP5	129684	broad.mit.edu	37	2	125175123	125175123	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:125175123G>A	ENST00000431078.1	+	4	849	c.485G>A	c.(484-486)aGt>aAt	p.S162N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	162	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S162N(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)		TGGAATCCCAGTGGGAAGATT	0.502																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(484-486)AGT>AAT		contactin associated protein-like 5 precursor							93.0	97.0	96.0					2																	125175123		1978	4165	6143	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175123G>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.485G>A	2.37:g.125175123G>A	ENSP00000399013:p.Ser162Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.S162N	p.S162N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	849	+			162			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.485G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	5.254	0.232388	0.09969	.	.	ENSG00000155052	ENST00000431078	D	0.98105	-4.72	6.17	-0.862	0.10673	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.587239	0.16125	N	0.228443	D	0.86335	0.5908	N	0.01482	-0.84	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.81200	-0.1041	10	0.10902	T	0.67	.	2.5207	0.04679	0.4319:0.1172:0.332:0.119	.	162	Q8WYK1	CNTP5_HUMAN	N	162	ENSP00000399013:S162N	ENSP00000399013:S162N	S	+	2	0	CNTNAP5	124891593	0.003000	0.15002	0.003000	0.11579	0.976000	0.68499	0.194000	0.17135	-0.062000	0.13088	0.655000	0.94253	AGT		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			16	26	0	0	0	0.004007	0	16	26				
CNTNAP5	129684	broad.mit.edu	37	2	125284984	125284984	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:125284984C>A	ENST00000431078.1	+	10	1961	c.1597C>A	c.(1597-1599)Ctg>Atg	p.L533M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L533M(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)		GCAAGGTTCCCTGGGGAATTT	0.428																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1597-1599)CTG>ATG		contactin associated protein-like 5 precursor							139.0	135.0	136.0					2																	125284984		1873	4100	5973	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284984C>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.1597C>A	2.37:g.125284984C>A	ENSP00000399013:p.Leu533Met					CNTNAP5_uc010flu.2_Missense_Mutation_p.L534M	p.L533M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1961	+			533			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1597C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941704	0.34283	.	.	ENSG00000155052	ENST00000431078	D	0.89343	-2.5	5.41	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.33346	N	0.005013	D	0.84142	0.5407	M	0.62088	1.915	0.52099	D	0.999949	P	0.35433	0.501	B	0.30572	0.117	T	0.82940	-0.0208	10	0.45353	T	0.12	.	7.8062	0.29204	0.1622:0.7568:0.0:0.081	.	533	Q8WYK1	CNTP5_HUMAN	M	533	ENSP00000399013:L533M	ENSP00000399013:L533M	L	+	1	2	CNTNAP5	125001454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.760000	0.47581	2.536000	0.85505	0.650000	0.86243	CTG		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			41	76	1	0	1.62957e-23	0.00874	2.61393e-23	41	76				
CCDC74B	91409	broad.mit.edu	37	2	130897872	130897872	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:130897872C>T	ENST00000310463.6	-	5	893	c.756G>A	c.(754-756)atG>atA	p.M252I	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.M354I|CCDC74B_ENST00000409943.3_Missense_Mutation_p.M186I	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	252								p.M252I(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCGCCGCCCCCATCTGCCTGC	0.607																																							uc002tqm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(754-756)ATG>ATA		coiled-coil domain containing 74B							98.0	106.0	103.0					2																	130897872		2203	4300	6503	SO:0001583	missense	91409							g.chr2:130897872C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.756G>A	2.37:g.130897872C>T	ENSP00000308873:p.Met252Ile					CCDC74B_uc010yzw.1_Missense_Mutation_p.M354I|CCDC74B_uc002tqn.1_Missense_Mutation_p.M186I	p.M252I	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN			5	818	-	Colorectal(110;0.1)		252					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.756G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	5.508	0.278739	0.10458	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.22945	2.01;2.01;1.93	2.18	-1.94	0.07571	.	4.084480	0.02373	U	0.078020	T	0.13841	0.0335	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15141	0.012;0.002;0.006	B;B;B	0.09377	0.001;0.004;0.001	T	0.10730	-1.0617	10	0.18276	T	0.48	.	0.6883	0.00887	0.2393:0.3524:0.2368:0.1716	.	354;186;252	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	I	186;252;354	ENSP00000386294:M186I;ENSP00000308873:M252I;ENSP00000376710:M354I	ENSP00000308873:M252I	M	-	3	0	CCDC74B	130614342	0.000000	0.05858	0.007000	0.13788	0.347000	0.29111	-1.191000	0.03055	-0.163000	0.10946	0.298000	0.19748	ATG		0.607	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		68	123	0	0	0	0.00361	0	68	123				
LOC401010	401010	broad.mit.edu	37	2	132201617	132201617	+	IGR	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:132201617C>T								AC073869.19 (34995 upstream) : RP11-109E12.1 (17776 downstream)																							AAGCAGGGCACTAGCACGCTG	0.592																																							uc002tst.2		NA																	0					0						c.(385-387)GTG>ATG		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201617C>T																													2.37:g.132201617C>T							p.V129M	NR_002826						1	851	-									Missense_Mutation	SNP		37	c.385G>A																																																																																				0	0.592									3	42	0	0	0	0.004672	0	3	42				
MCM6	4175	broad.mit.edu	37	2	136633884	136633884	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:136633884C>T	ENST00000264156.2	-	1	112	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	18					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)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.V18I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCGTCGCGGACCTCCAGGTGC	0.692																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)GTC>ATC		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						14.0	21.0	19.0					2																	136633884		2126	4215	6341	SO:0001583	missense	4175				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	MCM complex	ATP binding|identical protein binding	g.chr2:136633884C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.52G>A	2.37:g.136633884C>T	ENSP00000264156:p.Val18Ile						p.V18I	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	1	128	-			18					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.52G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589031	0.46110	.	.	ENSG00000076003	ENST00000264156	T	0.03242	4.0	4.95	4.95	0.65309	.	0.121540	0.56097	D	0.000040	T	0.04815	0.0130	L	0.52905	1.665	0.58432	D	0.999992	B	0.12630	0.006	B	0.11329	0.006	T	0.24941	-1.0146	10	0.51188	T	0.08	-14.4776	7.3667	0.26776	0.0:0.7159:0.1619:0.1222	.	18	Q14566	MCM6_HUMAN	I	18	ENSP00000264156:V18I	ENSP00000264156:V18I	V	-	1	0	MCM6	136350354	0.776000	0.28616	0.974000	0.42286	0.314000	0.28054	0.831000	0.27476	2.566000	0.86566	0.460000	0.39030	GTC		0.692	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	32	0	0	0	0.000602	0	4	32				
LRP1B	53353	broad.mit.edu	37	2	141528458	141528458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:141528458G>T	ENST00000389484.3	-	34	6589	c.5618C>A	c.(5617-5619)tCa>tAa	p.S1873*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1873	EGF-like 8. {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.S1873*(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)		ACCTTGACATGACATACGGTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Nonsense(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.(5617-5619)TCA>TAA		low density lipoprotein-related protein 1B							174.0	160.0	165.0					2																	141528458		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141528458G>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.5618C>A	2.37:g.141528458G>T	ENSP00000374135:p.Ser1873*	TSP Lung(27;0.18)					p.S1873*	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)	34	6590	-		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)	1873			Extracellular (Potential).|EGF-like 4.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.5618C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	52	19.995541	0.99926	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.7	5.7	0.88788	.	0.170919	0.40144	N	0.001169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	.	.	.	X	1873;1811	.	ENSP00000374135:S1873X	S	-	2	0	LRP1B	141244928	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.215000	0.95146	2.679000	0.91253	0.585000	0.79938	TCA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	95	1	0	6.53348e-20	0.003755	1.00711e-19	36	95				
ARHGAP15	55843	broad.mit.edu	37	2	143913162	143913162	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:143913162C>G	ENST00000295095.6	+	2	270	c.103C>G	c.(103-105)Cat>Gat	p.H35D	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.H35D	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	35					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.H35D(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAACAGCCACCATGACAGGCT	0.458																																							uc002tvm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(103-105)CAT>GAT		ARHGAP15							105.0	91.0	96.0					2																	143913162		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.chr2:143913162C>G	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.103C>G	2.37:g.143913162C>G	ENSP00000295095:p.His35Asp					ARHGAP15_uc010zbl.1_Missense_Mutation_p.H35D	p.H35D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	254	+			35					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.103C>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615429	0.46631	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07114	3.22	5.96	5.96	0.96718	.	0.381435	0.30528	N	0.009429	T	0.06962	0.0177	N	0.24115	0.695	0.38495	D	0.948075	B;B	0.26672	0.156;0.033	B;B	0.19666	0.026;0.013	T	0.24476	-1.0159	10	0.06891	T	0.86	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	35;35	B4E0R3;Q53QZ3	.;RHG15_HUMAN	D	35	ENSP00000295095:H35D	ENSP00000295095:H35D	H	+	1	0	ARHGAP15	143629632	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.296000	0.43584	2.813000	0.96785	0.655000	0.94253	CAT		0.458	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		10	71	0	0	0	0.006214	0	10	71				
LYPD6B	130576	broad.mit.edu	37	2	150061878	150061878	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:150061878C>A	ENST00000409029.1	+	4	319	c.117C>A	c.(115-117)gcC>gcA	p.A39A	LYPD6B_ENST00000409876.1_Silent_p.A39A|LYPD6B_ENST00000409642.3_Silent_p.A63A|LYPD6B_ENST00000280115.7_Silent_p.A63A|LYPD6B_ENST00000498249.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	39						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A63A(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGCATTTGCCAAGAACATCA	0.512																																							uc002twv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)GCC>GCA		LY6/PLAUR domain containing 6B							234.0	233.0	233.0					2																	150061878		2020	4174	6194	SO:0001819	synonymous_variant	130576					anchored to membrane|plasma membrane		g.chr2:150061878C>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.117C>A	2.37:g.150061878C>A						LYPD6B_uc002tww.1_Silent_p.A25A|LYPD6B_uc002twx.1_Silent_p.A25A	p.A63A	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			4	590	+			39					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Silent	SNP	ENST00000409029.1	37	c.189C>A																																																																																					0.512	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		123	264	1	0	3.97618e-41	0.00361	6.60144e-41	123	264				
PLA2R1	22925	broad.mit.edu	37	2	160862202	160862202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:160862202C>A	ENST00000283243.7	-	11	2001	c.1795G>T	c.(1795-1797)Gag>Tag	p.E599*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.E599*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	599	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.E599*(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGCACCGGCTCGGGTTTCTGC	0.483																																							uc002ube.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1795-1797)GAG>TAG		phospholipase A2 receptor 1 isoform 1 precursor							85.0	80.0	82.0					2																	160862202		2203	4300	6503	SO:0001587	stop_gained	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160862202C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1795G>T	2.37:g.160862202C>A	ENSP00000283243:p.Glu599*					PLA2R1_uc010zcp.1_Nonsense_Mutation_p.E599*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.E599*	p.E599*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			11	2002	-			599			Extracellular (Potential).|C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Nonsense_Mutation	SNP	ENST00000283243.7	37	c.1795G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667827	0.96745	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	5.06	4.12	0.48240	.	0.358080	0.28901	N	0.013778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	12.1656	0.54127	0.0:0.7135:0.2865:0.0	.	.	.	.	X	599	.	ENSP00000283243:E599X	E	-	1	0	PLA2R1	160570448	0.964000	0.33143	0.949000	0.38748	0.073000	0.16967	1.850000	0.39328	2.515000	0.84797	0.591000	0.81541	GAG		0.483	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			20	37	1	0	6.70999e-13	0.004289	9.59437e-13	20	37				
TBR1	10716	broad.mit.edu	37	2	162274732	162274732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:162274732C>A	ENST00000389554.3	+	3	1185	c.868C>A	c.(868-870)Ccg>Acg	p.P290T	TBR1_ENST00000410035.1_Missense_Mutation_p.P3T	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	290					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|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.P290S(1)|p.P290T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTATATGCATCCGGATTCCCC	0.463																																							uc002ubw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(868-870)CCG>ACG		T-box, brain, 1							59.0	63.0	62.0					2																	162274732		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274732C>A	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.868C>A	2.37:g.162274732C>A	ENSP00000374205:p.Pro290Thr					TBR1_uc010foy.2_Missense_Mutation_p.P3T	p.P290T	NM_006593	NP_006584	Q16650	TBR1_HUMAN			3	1170	+			290			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.868C>A	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606567	0.66445	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000411412;ENST00000410035	D;D;D	0.81821	-1.54;-1.54;-1.54	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.110414	0.64402	D	0.000007	D	0.92779	0.7704	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94329	0.7560	10	0.87932	D	0	.	18.6122	0.91290	0.0:1.0:0.0:0.0	.	290	Q16650	TBR1_HUMAN	T	290;3;25;3	ENSP00000374205:P290T;ENSP00000393934:P25T;ENSP00000387023:P3T	ENSP00000374205:P290T	P	+	1	0	TBR1	161982978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.564000	0.82326	2.790000	0.95986	0.650000	0.86243	CCG		0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		17	63	1	0	2.94398e-08	0.007413	3.7512e-08	17	63				
KCNH7	90134	broad.mit.edu	37	2	163292062	163292062	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:163292062G>T	ENST00000332142.5	-	8	1699	c.1600C>A	c.(1600-1602)Ctt>Att	p.L534I	KCNH7_ENST00000328032.4_Missense_Mutation_p.L527I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	534					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L527I(1)|p.L534I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACGCGCACAAGACGGAGGAGT	0.453																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1600-1602)CTT>ATT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						65.0	63.0	64.0					2																	163292062		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292062G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1600C>A	2.37:g.163292062G>T	ENSP00000331727:p.Leu534Ile					KCNH7_uc002uci.2_Missense_Mutation_p.L527I	p.L534I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			8	1812	-			534			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1600C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143013	0.77888	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96716	-4.1;-4.1	6.16	5.19	0.71726	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	M	0.70787	2.145	0.80722	D	1	D;P	0.89917	1.0;0.933	D;P	0.91635	0.999;0.855	D	0.96309	0.9227	10	0.87932	D	0	.	7.5321	0.27689	0.1734:0.0:0.8266:0.0	.	527;534	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	534;527	ENSP00000331727:L534I;ENSP00000333781:L527I	ENSP00000333781:L527I	L	-	1	0	KCNH7	163000308	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.883000	0.48554	2.937000	0.99478	0.650000	0.86243	CTT		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		6	71	1	0	0.00116845	0.001168	0.00127467	6	71				
KCNH7	90134	broad.mit.edu	37	2	163361078	163361078	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:163361078G>C	ENST00000332142.5	-	6	1102	c.1003C>G	c.(1003-1005)Ctc>Gtc	p.L335V	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.L328V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	335					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L328V(1)|p.L335V(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTCAGAGTGAGCTGTGGAATC	0.378																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1003-1005)CTC>GTC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						141.0	144.0	143.0					2																	163361078		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163361078G>C	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1003C>G	2.37:g.163361078G>C	ENSP00000331727:p.Leu335Val					KCNH7_uc002uci.2_Missense_Mutation_p.L328V	p.L335V	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1215	-			335			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1003C>G	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132855	0.37630	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.88509	-2.39;-2.39	5.5	5.5	0.81552	.	0.051759	0.85682	D	0.000000	T	0.77883	0.4197	N	0.04508	-0.205	0.52099	D	0.999941	B;B	0.29552	0.007;0.248	B;B	0.25140	0.009;0.058	T	0.74365	-0.3689	10	0.21540	T	0.41	.	19.775	0.96388	0.0:0.0:1.0:0.0	.	328;335	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	335;328	ENSP00000331727:L335V;ENSP00000333781:L328V	ENSP00000333781:L328V	L	-	1	0	KCNH7	163069324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.800000	0.69108	2.741000	0.93983	0.585000	0.79938	CTC		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		67	150	0	0	0	0.00361	0	67	150				
LRP2	4036	broad.mit.edu	37	2	170009461	170009461	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:170009461G>A	ENST00000263816.3	-	67	12594	c.12309C>T	c.(12307-12309)taC>taT	p.Y4103Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4103					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.Y4103Y(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)"""	CTCGCACAGTGTAATACACAA	0.478																																							uc002ues.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12307-12309)TAC>TAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						179.0	175.0	176.0					2																	170009461		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:170009461G>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.12309C>T	2.37:g.170009461G>A							p.Y4103Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12522	-			4103			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12309C>T	CCDS2232.1																																																																																				0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		77	230	0	0	0	0.00361	0	77	230				
FASTKD1	79675	broad.mit.edu	37	2	170403036	170403036	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:170403036C>A	ENST00000453153.2	-	8	1739	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	FASTKD1_ENST00000453929.2_Missense_Mutation_p.D465Y	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	465					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.D465Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TACATGTGATCATGCTGAATC	0.398																																							uc002uev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1393-1395)GAT>TAT		FAST kinase domains 1							109.0	98.0	102.0					2																	170403036		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170403036C>A	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1393G>T	2.37:g.170403036C>A	ENSP00000400513:p.Asp465Tyr					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.D451Y	p.D465Y	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			8	1781	-			465					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.1393G>T	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453443	0.43531	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.24350	1.88;1.86	4.57	4.57	0.56435	.	0.243493	0.46145	D	0.000305	T	0.53142	0.1778	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.959	T	0.58864	-0.7561	10	0.66056	D	0.02	-4.5899	17.8977	0.88893	0.0:1.0:0.0:0.0	.	465;465	Q53R41-2;Q53R41	.;FAKD1_HUMAN	Y	465	ENSP00000400513:D465Y;ENSP00000403229:D465Y	ENSP00000400513:D465Y	D	-	1	0	FASTKD1	170111282	1.000000	0.71417	0.047000	0.18901	0.007000	0.05969	3.858000	0.55979	2.538000	0.85594	0.655000	0.94253	GAT		0.398	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		17	118	1	0	4.14922e-12	0.004007	5.85336e-12	17	118				
PDE11A	50940	broad.mit.edu	37	2	178704991	178704991	+	Missense_Mutation	SNP	C	C	T	rs372031081		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:178704991C>T	ENST00000286063.6	-	6	1804	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	PDE11A_ENST00000409504.1_Missense_Mutation_p.R138H|PDE11A_ENST00000358450.4_Missense_Mutation_p.R246H|PDE11A_ENST00000449286.2_Missense_Mutation_p.R138H|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.R52H	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	496	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R496H(1)|p.R246H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGCATCAAAGCGCGGATCCTG	0.453									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1486-1488)CGC>CAC		phosphodiesterase 11A isoform 4		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	98.0	86.0	90.0		155,737,413,1487	5.6	1.0	2		90	0,8600		0,0,4300	no	missense,missense,missense,missense	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	29,29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	52/490,246/684,138/576,496/934	178704991	2,13004	2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178704991C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1487G>A	2.37:g.178704991C>T	ENSP00000286063:p.Arg496His					PDE11A_uc002ulp.2_Missense_Mutation_p.R52H|PDE11A_uc002ulr.2_Missense_Mutation_p.R246H|PDE11A_uc002uls.1_Missense_Mutation_p.R138H|PDE11A_uc002ult.1_Missense_Mutation_p.R246H|PDE11A_uc002ulu.1_Missense_Mutation_p.R138H	p.R496H	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		6	1805	-			496			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1487G>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.423243|4.423243	0.83559|0.83559	4.54E-4|4.54E-4	0.0|0.0	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T	.|0.72051	.|-0.62;-0.62;-0.62;-0.62;-0.62	5.6|5.6	5.6|5.6	0.85130|0.85130	.|GAF (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87047|0.87047	0.6080|0.6080	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	D|D	0.88680|0.88680	0.3201|0.3201	5|10	.|0.87932	.|D	.|0	.|.	19.6123|19.6123	0.95613|0.95613	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246;496	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	T|H	135|496;246;138;52;138	.|ENSP00000286063:R496H;ENSP00000351232:R246H;ENSP00000386539:R138H;ENSP00000374333:R52H;ENSP00000390599:R138H	.|ENSP00000286063:R496H	A|R	-|-	1|2	0|0	PDE11A|PDE11A	178413237|178413237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.427000|0.427000	0.31564|0.31564	7.772000|7.772000	0.85439|0.85439	2.640000|2.640000	0.89533|0.89533	0.467000|0.467000	0.42956|0.42956	GCT|CGC		0.453	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			4	72	0	0	0	0.000602	0	4	72				
PDE11A	50940	broad.mit.edu	37	2	178936786	178936786	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:178936786G>A	ENST00000286063.6	-	1	696	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	127					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R127C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCCTTGGAGCGGGCAAAACTC	0.607									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(379-381)CGC>TGC		phosphodiesterase 11A isoform 4							81.0	86.0	84.0					2																	178936786		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936786G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.379C>T	2.37:g.178936786G>A	ENSP00000286063:p.Arg127Cys					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.R127C	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	697	-			127					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.379C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395082	0.62066	.	.	ENSG00000128655	ENST00000286063	T	0.72167	-0.63	5.09	4.12	0.48240	.	0.531477	0.18931	N	0.127213	T	0.80076	0.4557	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81441	-0.0931	10	0.72032	D	0.01	.	13.7039	0.62627	0.0:0.0:0.7559:0.2441	.	127	Q9HCR9	PDE11_HUMAN	C	127	ENSP00000286063:R127C	ENSP00000286063:R127C	R	-	1	0	PDE11A	178645032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.375000	0.81037	0.591000	0.81541	CGC		0.607	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	144	0	0	0	0.001168	0	5	144				
TTN	7273	broad.mit.edu	37	2	179429980	179429980	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179429980G>C	ENST00000591111.1	-	276	76180	c.75956C>G	c.(75955-75957)aCa>aGa	p.T25319R	TTN_ENST00000589042.1_Missense_Mutation_p.T26960R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18087R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18020R|TTN_ENST00000342992.6_Missense_Mutation_p.T24392R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17895R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25319	Ig-like 124.				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.T18020R(1)|p.T24392R(1)|p.T17895R(1)|p.T24390R(1)|p.T18087R(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)			TTCTGTTGCTGTGCCTGCACT	0.408																																							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.(73174-73176)ACA>AGA		titin isoform N2-A							109.0	104.0	106.0					2																	179429980		1886	4119	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429980G>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.75956C>G	2.37:g.179429980G>C	ENSP00000465570:p.Thr25319Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18087R|TTN_uc010zfi.1_Missense_Mutation_p.T18020R|TTN_uc010zfj.1_Missense_Mutation_p.T17895R	p.T24392R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	73399	-			25319					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.73175C>G		.	.	.	.	.	.	.	.	.	.	G	10.41	1.342810	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	4.79	0.61399	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60996	0.2312	L	0.37850	1.14	0.44825	D	0.997838	B;B;B;B	0.27910	0.193;0.193;0.193;0.062	B;B;B;B	0.33196	0.159;0.159;0.159;0.159	T	0.62520	-0.6837	9	0.87932	D	0	.	14.3801	0.66905	0.0:0.0:0.7309:0.2691	.	17895;18020;18087;25319	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	24392;17895;18087;18020;17893	ENSP00000343764:T24392R;ENSP00000434586:T17895R;ENSP00000340554:T18087R;ENSP00000352154:T18020R	ENSP00000340554:T18087R	T	-	2	0	TTN	179138226	1.000000	0.71417	0.605000	0.28930	0.984000	0.73092	4.819000	0.62664	1.381000	0.46364	0.484000	0.47621	ACA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	155	0	0	0	0.002836	0	34	155				
TTN	7273	broad.mit.edu	37	2	179432976	179432976	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179432976G>A	ENST00000591111.1	-	276	73184	c.72960C>T	c.(72958-72960)taC>taT	p.Y24320Y	TTN_ENST00000589042.1_Silent_p.Y25961Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.Y17088Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.Y17021Y|TTN_ENST00000342992.6_Silent_p.Y23393Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Y16896Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24320	Fibronectin type-III 76. {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.Y23391Y(1)|p.Y16896Y(1)|p.Y17021Y(1)|p.Y23393Y(1)|p.Y17088Y(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)			TTCTAAATTGGTATTCTGTAC	0.403																																							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.(70177-70179)TAC>TAT		titin isoform N2-A							127.0	124.0	125.0					2																	179432976		1855	4101	5956	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432976G>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.72960C>T	2.37:g.179432976G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y17088Y|TTN_uc010zfi.1_Silent_p.Y17021Y|TTN_uc010zfj.1_Silent_p.Y16896Y	p.Y23393Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70403	-			24320					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.70179C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	147	0	0	0	0.002299	0	21	147				
TTN	7273	broad.mit.edu	37	2	179440938	179440938	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179440938C>A	ENST00000591111.1	-	276	65222	c.64998G>T	c.(64996-64998)caG>caT	p.Q21666H	TTN_ENST00000589042.1_Missense_Mutation_p.Q23307H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q14434H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q14367H|TTN_ENST00000342992.6_Missense_Mutation_p.Q20739H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q14242H|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21666	Fibronectin type-III 57. {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.Q14242H(1)|p.Q14367H(1)|p.Q20739H(1)|p.Q14434H(1)|p.Q20737H(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)			TTTCTTTAGTCTGAAGATCAG	0.473																																							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.(62215-62217)CAG>CAT		titin isoform N2-A							72.0	71.0	71.0					2																	179440938		1910	4126	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440938C>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.64998G>T	2.37:g.179440938C>A	ENSP00000465570:p.Gln21666His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q14434H|TTN_uc010zfi.1_Missense_Mutation_p.Q14367H|TTN_uc010zfj.1_Missense_Mutation_p.Q14242H|uc002umv.1_5'Flank	p.Q20739H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	62441	-			21666					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.62217G>T		.	.	.	.	.	.	.	.	.	.	C	9.876	1.200231	0.22121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.87	-4.51	0.03483	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35595	0.0937	L	0.42744	1.35	0.24879	N	0.992236	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.003;0.003;0.007;0.007	T	0.39099	-0.9630	9	0.87932	D	0	.	1.1068	0.01696	0.1782:0.3142:0.1766:0.3311	.	14242;14367;14434;21666	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20739;14242;14434;14367;14240	ENSP00000343764:Q20739H;ENSP00000434586:Q14242H;ENSP00000340554:Q14434H;ENSP00000352154:Q14367H	ENSP00000340554:Q14434H	Q	-	3	2	TTN	179149184	0.938000	0.31826	0.876000	0.34364	0.993000	0.82548	0.076000	0.14712	-0.770000	0.04614	-0.182000	0.12963	CAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	90	1	0	0.00010058	0.001368	0.000114465	11	90				
TTN	7273	broad.mit.edu	37	2	179446708	179446708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179446708C>G	ENST00000591111.1	-	265	61689	c.61465G>C	c.(61465-61467)Gtt>Ctt	p.V20489L	TTN_ENST00000589042.1_Missense_Mutation_p.V22130L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V13257L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V13190L|TTN_ENST00000342992.6_Missense_Mutation_p.V19562L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13065L|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20489	Fibronectin type-III 48. {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.V13190L(1)|p.V19562L(1)|p.V13257L(1)|p.V13065L(1)|p.V19560L(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)			ATAGCTGTAACACGGAACTCA	0.443																																							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.(58684-58686)GTT>CTT		titin isoform N2-A							117.0	113.0	115.0					2																	179446708		1896	4128	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446708C>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.61465G>C	2.37:g.179446708C>G	ENSP00000465570:p.Val20489Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V13257L|TTN_uc010zfi.1_Missense_Mutation_p.V13190L|TTN_uc010zfj.1_Missense_Mutation_p.V13065L	p.V19562L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	58908	-			20489					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.58684G>C		.	.	.	.	.	.	.	.	.	.	C	18.38	3.610808	0.66558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86573	0.5965	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.87932	0.2711	9	0.87932	D	0	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	13065;13190;13257;20489	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19562;13065;13257;13190;13063	ENSP00000343764:V19562L;ENSP00000434586:V13065L;ENSP00000340554:V13257L;ENSP00000352154:V13190L	ENSP00000340554:V13257L	V	-	1	0	TTN	179154954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.689000	0.91719	0.655000	0.94253	GTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	198	0	0	0	0.000602	0	5	198				
TTN	7273	broad.mit.edu	37	2	179468621	179468621	+	Missense_Mutation	SNP	C	C	A	rs397517621		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179468621C>A	ENST00000591111.1	-	232	50094	c.49870G>T	c.(49870-49872)Gtt>Ttt	p.V16624F	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18265F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9392F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9325F|TTN_ENST00000342992.6_Missense_Mutation_p.V15697F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9200F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16624	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.V15697F(2)|p.V9200F(1)|p.V9325F(1)|p.V9392F(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)			TCTCCTGCAACCTCTGGATCT	0.408																																							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.(47089-47091)GTT>TTT		titin isoform N2-A							78.0	74.0	76.0					2																	179468621		1890	4114	6004	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468621C>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.49870G>T	2.37:g.179468621C>A	ENSP00000465570:p.Val16624Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9392F|TTN_uc010zfi.1_Missense_Mutation_p.V9325F|TTN_uc010zfj.1_Missense_Mutation_p.V9200F	p.V15697F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47313	-			16624					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.47089G>T		.	.	.	.	.	.	.	.	.	.	C	7.255	0.604012	0.14002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.06	-8.15	0.01065	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31734	0.0806	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37009	-0.9724	9	0.87932	D	0	.	7.9759	0.30155	0.0808:0.1626:0.5361:0.2205	.	9200;9325;9392;16624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	15697;9200;9392;9325;9200	ENSP00000343764:V15697F;ENSP00000434586:V9200F;ENSP00000340554:V9392F;ENSP00000352154:V9325F	ENSP00000340554:V9392F	V	-	1	0	TTN	179176866	0.000000	0.05858	0.064000	0.19789	0.912000	0.54170	-1.085000	0.03390	-1.590000	0.01623	-1.078000	0.02229	GTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	88	1	0	9.90768e-06	0.004656	1.16388e-05	27	88				
TTN	7273	broad.mit.edu	37	2	179579781	179579781	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179579781C>T	ENST00000591111.1	-	88	25405	c.25181G>A	c.(25180-25182)gGg>gAg	p.G8394E	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8711E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7467E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12568	Ig-like 66.				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.G7467E(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)			CTGATATTCCCCAATGTCTGC	0.448																																							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.(22399-22401)GGG>GAG		titin isoform N2-A							264.0	256.0	259.0					2																	179579781		2008	4178	6186	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579781C>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.25181G>A	2.37:g.179579781C>T	ENSP00000465570:p.Gly8394Glu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4128E	p.G7467E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22624	-			8394					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.22400G>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813620	0.50527	.	.	ENSG00000155657	ENST00000342992	T	0.77750	-1.12	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94192	0.8136	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96162	0.9116	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	8394	Q8WZ42	TITIN_HUMAN	E	7467	ENSP00000343764:G7467E	ENSP00000343764:G7467E	G	-	2	0	TTN	179288026	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GGG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	294	0	0	0	0.000602	0	5	294				
TTN	7273	broad.mit.edu	37	2	179584410	179584410	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179584410T>C	ENST00000591111.1	-	80	23082	c.22858A>G	c.(22858-22860)Att>Gtt	p.I7620V	TTN_ENST00000589042.1_Missense_Mutation_p.I7937V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I6693V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13170	Ig-like 58.				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.I6693V(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)			ATGAATGTAATGTGATGTTTG	0.398																																							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.(20077-20079)ATT>GTT		titin isoform N2-A							174.0	163.0	166.0					2																	179584410		1895	4114	6009	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584410T>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.22858A>G	2.37:g.179584410T>C	ENSP00000465570:p.Ile7620Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3354V	p.I6693V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	20301	-			7620					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.20077A>G		.	.	.	.	.	.	.	.	.	.	T	10.49	1.365554	0.24684	.	.	ENSG00000155657	ENST00000342992	T	0.64618	-0.11	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64238	0.2580	L	0.60957	1.885	0.80722	D	1	P	0.35551	0.509	B	0.38712	0.28	T	0.67237	-0.5721	9	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	7620	Q8WZ42	TITIN_HUMAN	V	6693	ENSP00000343764:I6693V	ENSP00000343764:I6693V	I	-	1	0	TTN	179292655	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	4.076000	0.57591	2.333000	0.79357	0.533000	0.62120	ATT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	175	0	0	0	0.007413	0	20	175				
TTN	7273	broad.mit.edu	37	2	179616645	179616645	+	Intron	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179616645A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.S3494S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			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)			AGGAGCTTGTAGATGATATTC	0.368																																							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.(10480-10482)TCT>TCG		titin isoform novex-3							130.0	145.0	140.0					2																	179616645		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616645A>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.10360+1205T>G	2.37:g.179616645A>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S3494S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10706	-			3496					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.10482T>G																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	328	0	0	0	0.003163	0	15	328				
TTN	7273	broad.mit.edu	37	2	179650683	179650683	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179650683G>A	ENST00000591111.1	-	14	2486	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	TTN_ENST00000589042.1_Silent_p.A754A|TTN_ENST00000360870.5_Silent_p.A754A|TTN_ENST00000342175.6_Silent_p.A708A|TTN_ENST00000359218.5_Silent_p.A708A|TTN_ENST00000342992.6_Silent_p.A754A|TTN_ENST00000460472.2_Silent_p.A708A			Q8WZ42	TITIN_HUMAN	titin	33595					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)			GGGGTTCTGAGGCTGGACGTT	0.488																																							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.(2260-2262)GCC>GCT		titin isoform N2-A							93.0	84.0	87.0					2																	179650683		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650683G>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.2262C>T	2.37:g.179650683G>A						TTN_uc010zfh.1_Silent_p.A708A|TTN_uc010zfi.1_Silent_p.A708A|TTN_uc010zfj.1_Silent_p.A708A|TTN_uc002unb.2_Silent_p.A754A|TTN_uc010frg.1_Silent_p.A336A	p.A754A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2486	-			754					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.2262C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	112	0	0	0	0.001168	0	5	112				
TTN	7273	broad.mit.edu	37	2	179659835	179659835	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179659835G>A	ENST00000591111.1	-	7	1283	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	TTN_ENST00000589042.1_Silent_p.S353S|TTN_ENST00000360870.5_Silent_p.S353S|TTN_ENST00000342175.6_Silent_p.S353S|TTN_ENST00000359218.5_Silent_p.S353S|TTN_ENST00000342992.6_Silent_p.S353S|TTN_ENST00000460472.2_Silent_p.S353S			Q8WZ42	TITIN_HUMAN	titin	0					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.S353S(6)		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)			CCTCAGATGAGGAGGCCACGT	0.552																																							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.(1057-1059)TCC>TCT		titin isoform N2-A							107.0	95.0	99.0					2																	179659835		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659835G>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.1059C>T	2.37:g.179659835G>A						TTN_uc010zfh.1_Silent_p.S353S|TTN_uc010zfi.1_Silent_p.S353S|TTN_uc010zfj.1_Silent_p.S353S|TTN_uc002unb.2_Silent_p.S353S|TTN_uc010frg.1_Silent_p.S27S	p.S353S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1283	-			353					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.1059C>T																																																																																					0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	87	0	0	0	0.001368	0	11	87				
ITGA4	3676	broad.mit.edu	37	2	182339715	182339715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:182339715G>T	ENST00000397033.2	+	3	778	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITGA4_ENST00000339307.4_Missense_Mutation_p.K116N|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	116					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.K116N(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)	CTTGTGGAAAGACTTGTTTGG	0.418																																							uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(346-348)AAG>AAT		integrin alpha 4 precursor	Natalizumab(DB00108)						103.0	99.0	100.0					2																	182339715		1875	4108	5983	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.chr2:182339715G>T		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.348G>T	2.37:g.182339715G>T	ENSP00000380227:p.Lys116Asn					ITGA4_uc010zfl.1_Missense_Mutation_p.K116N	p.K116N	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		3	1111	+			116			FG-GAP 2.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.348G>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770174	0.69992	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.57752	0.38;0.38;0.38	5.28	5.28	0.74379	.	0.046980	0.85682	D	0.000000	T	0.59487	0.2197	L	0.48642	1.525	0.47737	D	0.999506	D;D	0.55385	0.971;0.964	P;P	0.56612	0.694;0.802	T	0.57213	-0.7850	10	0.41790	T	0.15	.	13.5691	0.61836	0.0751:0.0:0.9249:0.0	.	116;116	E7EP60;P13612	.;ITA4_HUMAN	N	116	ENSP00000340149:K116N;ENSP00000380227:K116N;ENSP00000233573:K116N	ENSP00000233573:K116N	K	+	3	2	ITGA4	182047960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.720000	0.61944	2.623000	0.88846	0.655000	0.94253	AAG		0.418	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			12	43	1	0	0.000151284	0.001855	0.000171758	12	43				
ITGA4	3676	broad.mit.edu	37	2	182395301	182395301	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:182395301A>T	ENST00000397033.2	+	24	3019	c.2589A>T	c.(2587-2589)ttA>ttT	p.L863F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	863					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.L863F(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)	TGTGTGCATTAGAGCAGCAAA	0.383																																							uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2587-2589)TTA>TTT		integrin alpha 4 precursor	Natalizumab(DB00108)						160.0	141.0	147.0					2																	182395301		1877	4117	5994	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.chr2:182395301A>T		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.2589A>T	2.37:g.182395301A>T	ENSP00000380227:p.Leu863Phe					ITGA4_uc002unv.2_Missense_Mutation_p.L108F	p.L863F	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		24	3352	+			863			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2589A>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444385	0.25987	.	.	ENSG00000115232	ENST00000397033	T	0.58358	0.34	5.56	-5.04	0.02964	Integrin alpha-2 (1);	1.278490	0.05050	N	0.477941	T	0.26593	0.0650	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.11251	-1.0595	10	0.33940	T	0.23	.	3.8939	0.09131	0.3077:0.0:0.3093:0.383	.	863	P13612	ITA4_HUMAN	F	863	ENSP00000380227:L863F	ENSP00000380227:L863F	L	+	3	2	ITGA4	182103546	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.367000	0.07553	-0.804000	0.04410	-0.376000	0.06991	TTA		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			5	154	0	0	0	0.000602	0	5	154				
ZNF804A	91752	broad.mit.edu	37	2	185803479	185803479	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:185803479C>A	ENST00000302277.6	+	4	3950	c.3356C>A	c.(3355-3357)gCa>gAa	p.A1119E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1119							metal ion binding (GO:0046872)	p.A1119E(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						gccgcagctgcagGAACCTTT	0.517																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3355-3357)GCA>GAA		zinc finger protein 804A							64.0	69.0	67.0					2																	185803479		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803479C>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.3356C>A	2.37:g.185803479C>A	ENSP00000303252:p.Ala1119Glu						p.A1119E	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3950	+			1119					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3356C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482715	0.26598	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	4.35	3.47	0.39725	.	0.492896	0.16494	N	0.211954	T	0.10035	0.0246	L	0.51422	1.61	0.09310	N	1	P	0.48162	0.906	B	0.43445	0.42	T	0.15578	-1.0432	10	0.87932	D	0	-4.3611	7.704	0.28640	0.0:0.8857:0.0:0.1143	.	1119	Q7Z570	Z804A_HUMAN	E	1119	ENSP00000303252:A1119E	ENSP00000303252:A1119E	A	+	2	0	ZNF804A	185511724	0.979000	0.34478	0.012000	0.15200	0.869000	0.49853	3.170000	0.50816	1.035000	0.39972	0.305000	0.20034	GCA		0.517	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		29	38	1	0	6.32628e-17	0.00361	9.50446e-17	29	38				
COL3A1	1281	broad.mit.edu	37	2	189862452	189862452	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:189862452A>G	ENST00000304636.3	+	27	2066	c.1896A>G	c.(1894-1896)acA>acG	p.T632T	COL3A1_ENST00000317840.5_Silent_p.T632T	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	632	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.T632T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAGGAGACACAGGACCCCCTG	0.373																																							uc002uqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1894-1896)ACA>ACG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						85.0	97.0	93.0					2																	189862452		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189862452A>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1896A>G	2.37:g.189862452A>G							p.T632T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		27	2013	+			632			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.1896A>G	CCDS2297.1																																																																																				0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		6	54	0	0	0	0.001168	0	6	54				
PLCL1	5334	broad.mit.edu	37	2	198949581	198949581	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:198949581G>T	ENST00000428675.1	+	2	1738	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	PLCL1_ENST00000437704.2_Missense_Mutation_p.S349I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	447	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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.S349I(1)|p.S447I(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)	CTCGATGTAAGTGATGGTTCA	0.393																																							uc010fsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1339-1341)AGT>ATT		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)						61.0	58.0	59.0					2																	198949581		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949581G>T	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	ENST00000428675.1:c.1340G>T	2.37:g.198949581G>T	ENSP00000402861:p.Ser447Ile					PLCL1_uc002uuv.3_Missense_Mutation_p.S368I	p.S447I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1631	+			447			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1340G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.332920	0.24167	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.52057	0.68;0.68	5.94	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.143817	0.50627	D	0.000118	T	0.37433	0.1003	N	0.22421	0.69	0.45822	D	0.99869	P;B	0.34909	0.475;0.336	B;B	0.39027	0.288;0.148	T	0.15093	-1.0449	9	.	.	.	.	13.8868	0.63712	0.0746:0.0:0.9254:0.0	.	447;373	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	447;349	ENSP00000402861:S447I;ENSP00000414138:S349I	.	S	+	2	0	PLCL1	198657826	1.000000	0.71417	0.988000	0.46212	0.383000	0.30230	6.460000	0.73518	1.486000	0.48398	0.561000	0.74099	AGT		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	79	1	0	0.00909568	0.009096	0.00959144	4	79				
ZDBF2	57683	broad.mit.edu	37	2	207173670	207173670	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:207173670A>T	ENST00000374423.3	+	5	4804	c.4418A>T	c.(4417-4419)tAc>tTc	p.Y1473F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1473							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y1473F(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGTGTCTTACAAAGAGGCA	0.373																																							uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4417-4419)TAC>TTC		zinc finger, DBF-type containing 2							60.0	60.0	60.0					2																	207173670		1892	4115	6007	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173670A>T	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.4418A>T	2.37:g.207173670A>T	ENSP00000363545:p.Tyr1473Phe						p.Y1473F	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	4668	+			1473					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.4418A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.786499	0.00628	.	.	ENSG00000204186	ENST00000374423	T	0.43294	0.95	3.76	-0.113	0.13568	.	.	.	.	.	T	0.17492	0.0420	N	0.04090	-0.28	0.09310	N	0.999995	B	0.27625	0.183	B	0.22601	0.04	T	0.19712	-1.0297	9	0.29301	T	0.29	.	6.3385	0.21309	0.457:0.0:0.543:0.0	.	1473	Q9HCK1	ZDBF2_HUMAN	F	1473	ENSP00000363545:Y1473F	ENSP00000363545:Y1473F	Y	+	2	0	ZDBF2	206881915	0.000000	0.05858	0.384000	0.26145	0.001000	0.01503	-0.336000	0.07863	-0.040000	0.13580	-0.924000	0.02725	TAC		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	52	0	0	0	0.001984	0	6	52				
CPS1	1373	broad.mit.edu	37	2	211421526	211421526	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:211421526G>T	ENST00000233072.5	+	1	265	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CPS1_ENST00000430249.2_Silent_p.V29V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	23					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.V29V(1)|p.V23V(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)	TTACCAATGTGACTGCACACC	0.373																																							uc002vee.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(67-69)GTG>GTT		carbamoyl-phosphate synthetase 1 isoform b							107.0	108.0	108.0					2																	211421526		2203	4299	6502	SO:0001819	synonymous_variant	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.chr2:211421526G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.69G>T	2.37:g.211421526G>T						CPS1_uc010fur.2_Silent_p.V29V	p.V23V	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)	1	201	+			23					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.69G>T	CCDS2393.1																																																																																				0.373	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			25	116	1	0	3.28513e-13	0.003954	4.74018e-13	25	116				
CPS1	1373	broad.mit.edu	37	2	211504752	211504752	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:211504752G>A	ENST00000233072.5	+	24	3124	c.2928G>A	c.(2926-2928)atG>atA	p.M976I	CPS1_ENST00000451903.2_Missense_Mutation_p.M525I|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.M982I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	976					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.M976I(1)|p.M982I(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)	ACCATGGAATGATGGTGCTAG	0.294																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2926-2928)ATG>ATA		carbamoyl-phosphate synthetase 1 isoform b							140.0	137.0	138.0					2																	211504752		2203	4299	6502	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.chr2:211504752G>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.2928G>A	2.37:g.211504752G>A	ENSP00000233072:p.Met976Ile					CPS1_uc010fur.2_Missense_Mutation_p.M982I|CPS1_uc010fus.2_Missense_Mutation_p.M525I	p.M976I	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)	24	3060	+			976					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2928G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.931019	0.18131	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96365	-3.99;-3.99;-3.99	5.42	4.53	0.55603	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.200481	0.64402	N	0.000009	T	0.81555	0.4847	N	0.00123	-2.06	0.31509	N	0.663811	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.78201	-0.2296	10	0.19147	T	0.46	-7.6523	11.6919	0.51521	0.1496:0.0:0.8504:0.0	.	986;976	Q59HF8;P31327	.;CPSM_HUMAN	I	982;984;976;525	ENSP00000402608:M982I;ENSP00000233072:M976I;ENSP00000406136:M525I	ENSP00000233072:M976I	M	+	3	0	CPS1	211212997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.826000	0.39092	1.391000	0.46566	0.655000	0.94253	ATG		0.294	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	101	0	0	0	0.00245	0	10	101				
ERBB4	2066	broad.mit.edu	37	2	212248650	212248650	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:212248650G>A	ENST00000342788.4	-	28	3927	c.3617C>T	c.(3616-3618)cCa>cTa	p.P1206L	ERBB4_ENST00000436443.1_Missense_Mutation_p.P1190L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1196L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1206					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.P1206L(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)	GAGGTACAGTGGCTCATTCAC	0.463										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.(3616-3618)CCA>CTA		v-erb-a erythroblastic leukemia viral oncogene							256.0	248.0	251.0					2																	212248650		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.chr2:212248650G>A	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.3617C>T	2.37:g.212248650G>A	ENSP00000342235:p.Pro1206Leu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.P1190L|ERBB4_uc010zji.1_Missense_Mutation_p.P1196L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1180L	p.P1206L	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)	28	3715	-		Renal(323;0.06)|Lung NSC(271;0.197)	1206			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3617C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400774	0.42613	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75704	-0.94;-0.96;-0.95	5.76	5.76	0.90799	.	0.056429	0.64402	D	0.000001	T	0.74861	0.3772	L	0.49350	1.555	0.80722	D	1	D;B;D;P	0.53312	0.959;0.004;0.959;0.931	P;B;P;B	0.48030	0.564;0.006;0.564;0.36	T	0.75642	-0.3247	10	0.49607	T	0.09	.	15.7857	0.78300	0.0:0.1355:0.8645:0.0	.	1180;1196;1190;1206	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1206;1190;1196	ENSP00000342235:P1206L;ENSP00000403204:P1190L;ENSP00000385565:P1196L	ENSP00000342235:P1206L	P	-	2	0	ERBB4	211956895	1.000000	0.71417	0.972000	0.41901	0.822000	0.46500	7.460000	0.80816	2.880000	0.98712	0.650000	0.86243	CCA		0.463	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		40	321	0	0	0	0.007835	0	40	321				
SPAG16	79582	broad.mit.edu	37	2	214794784	214794784	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:214794784G>T	ENST00000331683.5	+	12	1410	c.1315G>T	c.(1315-1317)Gtg>Ttg	p.V439L	SPAG16_ENST00000374309.3_Missense_Mutation_p.V345L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	439					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.V439L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGCCGCGCAGTGTGGTCCTG	0.438																																							uc002veq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1315-1317)GTG>TTG		sperm associated antigen 16 isoform 1							112.0	111.0	111.0					2																	214794784		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794784G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1315G>T	2.37:g.214794784G>T	ENSP00000332592:p.Val439Leu					SPAG16_uc010fuz.1_Missense_Mutation_p.V290L|SPAG16_uc002ver.2_Missense_Mutation_p.V385L|SPAG16_uc010zjk.1_Missense_Mutation_p.V345L	p.V439L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1407	+		Renal(323;0.00461)	439			WD 3.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1315G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585260	0.46110	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.73363	-0.74;-0.74	5.48	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.363846	0.24465	N	0.038292	D	0.85323	0.5670	M	0.79805	2.47	0.32804	D	0.500506	P;P;D;P	0.65815	0.9;0.936;0.995;0.948	P;P;D;P	0.75484	0.493;0.512;0.986;0.644	D	0.88496	0.3079	10	0.62326	D	0.03	.	12.4205	0.55518	0.0823:0.0:0.9177:0.0	.	345;290;379;439	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	L	439;345	ENSP00000332592:V439L;ENSP00000363428:V345L	ENSP00000332592:V439L	V	+	1	0	SPAG16	214503029	0.992000	0.36948	0.647000	0.29507	0.226000	0.24999	2.432000	0.44784	2.550000	0.86006	0.655000	0.94253	GTG		0.438	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		18	153	1	0	3.73808e-20	0.005443	5.78092e-20	18	153				
PRKAG3	53632	broad.mit.edu	37	2	219692035	219692035	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:219692035G>A	ENST00000529249.1	-	9	1252	c.937C>T	c.(937-939)Ccg>Tcg	p.P313S	PRKAG3_ENST00000392098.3_Silent_p.T297T|PRKAG3_ENST00000439262.2_Missense_Mutation_p.P288S|PRKAG3_ENST00000545803.1_Missense_Mutation_p.P129S			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	313	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.P313S(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CCTGACACCGGGTCAAGAACA	0.582																																							uc002vjb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(937-939)CCG>TCG		AMP-activated protein kinase, non-catalytic							83.0	78.0	80.0					2																	219692035		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219692035G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.937C>T	2.37:g.219692035G>A	ENSP00000436068:p.Pro313Ser					PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.T354T	p.P313S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	956	-		Renal(207;0.0474)	313			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.937C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473041	0.43942	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.92911	-3.13;-3.13;-3.13	5.24	5.24	0.73138	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93220	0.6608	10	0.41790	T	0.15	-26.091	17.9976	0.89188	0.0:0.0:1.0:0.0	.	313	Q9UGI9	AAKG3_HUMAN	S	288;129;313	ENSP00000397133:P288S;ENSP00000444536:P129S;ENSP00000436068:P313S	ENSP00000233944:P313S	P	-	1	0	PRKAG3	219400279	1.000000	0.71417	0.993000	0.49108	0.056000	0.15407	7.687000	0.84139	2.729000	0.93468	0.655000	0.94253	CCG		0.582	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			6	54	0	0	0	0.001984	0	6	54				
ASIC4	55515	broad.mit.edu	37	2	220379622	220379622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:220379622G>T	ENST00000347842.3	+	1	571	c.557G>T	c.(556-558)gGc>gTc	p.G186V	ASIC4_ENST00000358078.4_Missense_Mutation_p.G186V|AC053503.11_ENST00000429882.1_RNA	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	186					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.G186V(1)									CGGGCCTGTGGCCCAGGCCCC	0.716																																							uc002vma.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(556-558)GGC>GTC		amiloride-sensitive cation channel 4 isoform 2							27.0	33.0	31.0					2																	220379622		2194	4293	6487	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379622G>T	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.557G>T	2.37:g.220379622G>T	ENSP00000326627:p.Gly186Val					ACCN4_uc010fwi.1_Missense_Mutation_p.G186V|ACCN4_uc010fwj.1_Missense_Mutation_p.G186V|ACCN4_uc002vly.1_Missense_Mutation_p.G186V|ACCN4_uc002vlz.2_Missense_Mutation_p.G186V|ACCN4_uc002vmb.2_5'Flank	p.G186V	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)	1	571	+		Renal(207;0.0183)	186			Cytoplasmic (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.557G>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146321	0.21288	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.62941	-0.01;-0.01	4.45	4.45	0.53987	.	0.574689	0.17414	N	0.175072	T	0.44222	0.1283	N	0.05351	-0.065	0.58432	D	0.999999	B;B;B	0.24823	0.051;0.028;0.112	B;B;B	0.26517	0.07;0.07;0.028	T	0.34179	-0.9839	10	0.23891	T	0.37	-15.531	16.8993	0.86109	0.0:0.0:1.0:0.0	.	186;186;186	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	186	ENSP00000326627:G186V;ENSP00000350786:G186V	ENSP00000326627:G186V	G	+	2	0	ACCN4	220087866	0.039000	0.19947	0.997000	0.53966	0.968000	0.65278	0.462000	0.21956	2.311000	0.77944	0.563000	0.77884	GGC		0.716	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		29	90	1	0	7.11191e-15	0.002836	1.04528e-14	29	90				
EPHA4	2043	broad.mit.edu	37	2	222291250	222291250	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:222291250C>A	ENST00000281821.2	-	16	2821	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L	EPHA4_ENST00000469354.1_5'Flank|EPHA4_ENST00000392071.4_Missense_Mutation_p.R876L|EPHA4_ENST00000409938.1_Missense_Mutation_p.R927L|EPHA4_ENST00000409854.1_Missense_Mutation_p.R927L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	927	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R927L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATCCTTATACCGGTCCATTTT	0.478																																							uc002vmq.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2779-2781)CGG>CTG		ephrin receptor EphA4 precursor							82.0	73.0	76.0					2																	222291250		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222291250C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2780G>T	2.37:g.222291250C>A	ENSP00000281821:p.Arg927Leu					EPHA4_uc002vmr.2_Missense_Mutation_p.R927L|EPHA4_uc010zlm.1_Missense_Mutation_p.R868L|EPHA4_uc010zln.1_Missense_Mutation_p.R927L	p.R927L	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	16	2822	-		Renal(207;0.0183)	927			Cytoplasmic (Potential).|SAM.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2780G>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271701	0.80469	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.77	5.77	0.91146	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.90314	0.6970	M	0.78049	2.395	0.80722	D	1	P	0.51057	0.941	P	0.51516	0.672	D	0.91092	0.4907	10	0.87932	D	0	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	927	P54764	EPHA4_HUMAN	L	927;927;927;876	ENSP00000281821:R927L;ENSP00000386276:R927L;ENSP00000386829:R927L;ENSP00000375923:R876L	ENSP00000281821:R927L	R	-	2	0	EPHA4	221999494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.947000	0.63583	2.723000	0.93209	0.655000	0.94253	CGG		0.478	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			6	75	1	0	8.12818e-05	0.001984	9.27259e-05	6	75				
SCG2	7857	broad.mit.edu	37	2	224462854	224462854	+	Missense_Mutation	SNP	G	G	A	rs149957287		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:224462854G>A	ENST00000305409.2	-	2	1379	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R383W(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAAGCTCCCGCTCCGGTTCC	0.483																																							uc002vnm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1147-1149)CGG>TGG		secretogranin II precursor		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	75.0	77.0		1147	5.9	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	SCG2	NM_003469.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	383/618	224462854	1,13005	2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462854G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1147C>T	2.37:g.224462854G>A	ENSP00000304133:p.Arg383Trp						p.R383W	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1280	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	383					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1147C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814078	0.50527	2.27E-4	0.0	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01725	4.67	5.86	5.86	0.93980	.	0.235442	0.35378	N	0.003252	T	0.02012	0.0063	N	0.08118	0	0.35980	D	0.83596	D	0.58620	0.983	P	0.47376	0.545	T	0.65207	-0.6224	10	0.66056	D	0.02	.	14.9736	0.71251	0.0:0.0:0.8574:0.1426	.	383	P13521	SCG2_HUMAN	W	383;243	ENSP00000304133:R383W	ENSP00000304133:R383W	R	-	1	2	SCG2	224171098	0.999000	0.42202	1.000000	0.80357	0.646000	0.38490	2.888000	0.48594	2.781000	0.95711	0.650000	0.86243	CGG		0.483	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		35	105	0	0	0	0.005524	0	35	105				
IRS1	3667	broad.mit.edu	37	2	227660130	227660130	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:227660130T>A	ENST00000305123.5	-	1	4345	c.3325A>T	c.(3325-3327)Agt>Tgt	p.S1109C	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1109					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.S1109C(1)		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)		CGGGTGGCACTGGGTGTTGAG	0.632																																							uc002voh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(3325-3327)AGT>TGT		insulin receptor substrate 1							57.0	55.0	56.0					2																	227660130		2203	4300	6503	SO:0001583	missense	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.chr2:227660130T>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.3325A>T	2.37:g.227660130T>A	ENSP00000304895:p.Ser1109Cys						p.S1109C	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	3377	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1109						Missense_Mutation	SNP	ENST00000305123.5	37	c.3325A>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508597	0.27036	.	.	ENSG00000169047	ENST00000305123	T	0.60548	0.18	5.81	2.87	0.33458	.	0.252386	0.30602	N	0.009280	T	0.39809	0.1092	L	0.34521	1.04	0.09310	N	1	P	0.49696	0.927	B	0.41946	0.371	T	0.42172	-0.9467	10	0.72032	D	0.01	-0.9558	2.0007	0.03467	0.1247:0.1778:0.1291:0.5683	.	1109	P35568	IRS1_HUMAN	C	1109	ENSP00000304895:S1109C	ENSP00000304895:S1109C	S	-	1	0	IRS1	227368374	0.848000	0.29623	0.446000	0.26920	0.342000	0.28953	1.719000	0.38011	0.797000	0.33971	0.533000	0.62120	AGT		0.632	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		20	85	0	0	0	0.008871	0	20	85				
COL4A4	1286	broad.mit.edu	37	2	227983373	227983373	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:227983373T>A	ENST00000396625.3	-	7	684	c.477A>T	c.(475-477)ccA>ccT	p.P159P	COL4A4_ENST00000329662.7_Silent_p.P159P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	159	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P159P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGCCTCCTGGGCCAAGAG	0.532																																							uc010zlt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(475-477)CCA>CCT		alpha 4 type IV collagen precursor							80.0	80.0	80.0					2																	227983373		1866	4091	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227983373T>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.477A>T	2.37:g.227983373T>A							p.P159P	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	7	1131	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	159			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.477A>T	CCDS42828.1																																																																																				0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	136	0	0	0	0.00308	0	8	136				
COL4A3	1285	broad.mit.edu	37	2	228157957	228157957	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:228157957A>T	ENST00000396578.3	+	38	3423	c.3261A>T	c.(3259-3261)caA>caT	p.Q1087H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1087	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.Q1087H(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAATGGGGCAACCTGGCCCAC	0.502																																							uc002vom.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(3259-3261)CAA>CAT		alpha 3 type IV collagen isoform 1 precursor							56.0	61.0	59.0					2																	228157957		1844	4091	5935	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228157957A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3261A>T	2.37:g.228157957A>T	ENSP00000379823:p.Gln1087His					COL4A3_uc002von.1_Missense_Mutation_p.Q1087H|COL4A3_uc002voo.1_Missense_Mutation_p.Q1087H|COL4A3_uc002vop.1_Missense_Mutation_p.Q1087H|uc002voq.1_Intron|uc002vor.1_Intron	p.Q1087H	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	38	3423	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1087			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3261A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	9.511	1.105752	0.20632	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.93604	-3.25;-3.25	5.73	0.368	0.16146	.	1.605590	0.03445	N	0.209807	D	0.90099	0.6907	L	0.48642	1.525	0.09310	N	1	P;P;P;P	0.38617	0.64;0.64;0.64;0.555	B;B;B;B	0.42282	0.264;0.264;0.264;0.382	T	0.77335	-0.2626	10	0.14252	T	0.57	.	3.8819	0.09082	0.3833:0.4183:0.0738:0.1246	.	1087;1087;1087;1087	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	H	1087;1087;1087;1087;1087;124	ENSP00000379823:Q1087H;ENSP00000302781:Q124H	ENSP00000302781:Q124H	Q	+	3	2	COL4A3	227866201	0.000000	0.05858	0.252000	0.24328	0.985000	0.73830	-0.975000	0.03790	-0.091000	0.12440	0.455000	0.32223	CAA		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		4	53	0	0	0	0.009096	0	4	53				
PID1	55022	broad.mit.edu	37	2	229890500	229890500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:229890500C>A	ENST00000354069.6	-	3	631	c.601G>T	c.(601-603)Gag>Tag	p.E201*	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Nonsense_Mutation_p.E199*|PID1_ENST00000392055.3_Nonsense_Mutation_p.E168*|PID1_ENST00000409462.1_Nonsense_Mutation_p.E119*			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	201	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E199*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCTCGCACTCCACGGCGTGG	0.587																																							uc002vpr.3		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(3)|skin(1)	4						c.(601-603)GAG>TAG		phosphotyrosine interaction domain containing 1							133.0	115.0	121.0					2																	229890500		2203	4300	6503	SO:0001587	stop_gained	55022					cytoplasm		g.chr2:229890500C>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.601G>T	2.37:g.229890500C>A	ENSP00000283937:p.Glu201*					PID1_uc002vps.3_Nonsense_Mutation_p.E199*|PID1_uc002vpt.3_Nonsense_Mutation_p.E168*|PID1_uc002vpu.3_Nonsense_Mutation_p.E119*	p.E201*	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	3	639	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	201			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Nonsense_Mutation	SNP	ENST00000354069.6	37	c.601G>T		.	.	.	.	.	.	.	.	.	.	C	35	5.424163	0.96111	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.96	5.07	0.68467	.	0.046039	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-33.6503	15.9431	0.79773	0.0:0.8603:0.1397:0.0	.	.	.	.	X	199;119;168;201;201	.	.	E	-	1	0	PID1	229598744	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	5.739000	0.68622	1.476000	0.48215	0.655000	0.94253	GAG		0.587	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		15	150	1	0	1.49906e-05	0.00245	1.74798e-05	15	150				
SP110	3431	broad.mit.edu	37	2	231036855	231036855	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:231036855C>A	ENST00000358662.4	-	16	1820	c.1742G>T	c.(1741-1743)aGg>aTg	p.R581M	AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.R581M|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000609120.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	581	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R581M(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCTGAAGACCTCTTCATCCT	0.547																																							uc002vqh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1741-1743)AGG>ATG		SP110 nuclear body protein isoform a							152.0	140.0	144.0					2																	231036855		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231036855C>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1742G>T	2.37:g.231036855C>A	ENSP00000351488:p.Arg581Met					SP110_uc002vqg.3_Missense_Mutation_p.R581M	p.R581M	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	16	1982	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	581			Bromo.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1742G>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586750	0.28268	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	D;D	0.87571	-2.27;-2.27	2.95	-3.76	0.04359	Zinc finger, RING/FYVE/PHD-type (1);Bromodomain (2);	.	.	.	.	T	0.78842	0.4347	L	0.27053	0.805	0.09310	N	1	D;P	0.56968	0.978;0.953	P;P	0.48189	0.57;0.481	T	0.70085	-0.4969	9	0.87932	D	0	.	4.3466	0.11136	0.0:0.3617:0.3786:0.2597	.	581;581	Q9HB58;Q9HB58-6	SP110_HUMAN;.	M	581	ENSP00000258381:R581M;ENSP00000351488:R581M	ENSP00000258381:R581M	R	-	2	0	SP110	230745099	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.379000	0.07437	-0.664000	0.05324	-0.300000	0.09419	AGG		0.547	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		67	127	1	0	1.76847e-28	0.00361	2.89054e-28	67	127				
SP140	11262	broad.mit.edu	37	2	231177387	231177387	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:231177387T>A	ENST00000392045.3	+	27	2706	c.2592T>A	c.(2590-2592)aaT>aaA	p.N864K	SP140_ENST00000350136.5_Missense_Mutation_p.N733K|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.N837K|SP140_ENST00000417495.3_Missense_Mutation_p.N750K|SP140_ENST00000343805.6_Missense_Mutation_p.N804K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	864					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N864K(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAACAAATGGGAACAATT	0.398																																							uc002vql.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2590-2592)AAT>AAA		SP140 nuclear body protein isoform 1							140.0	128.0	132.0					2																	231177387		1879	4124	6003	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231177387T>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2592T>A	2.37:g.231177387T>A	ENSP00000375899:p.Asn864Lys					SP140_uc010zma.1_Intron|SP140_uc002vqn.2_Missense_Mutation_p.N750K|SP140_uc002vqm.2_Missense_Mutation_p.N804K|SP140_uc010fxl.2_Missense_Mutation_p.N837K	p.N864K	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	27	2707	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	864					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.2592T>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291191	0.23564	.	.	ENSG00000079263	ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T	0.58652	0.87;0.6;0.32;0.63	3.48	-2.33	0.06724	.	.	.	.	.	T	0.61726	0.2370	L	0.59436	1.845	0.09310	N	1	D;B;B;B	0.61697	0.99;0.121;0.192;0.121	P;B;B;B	0.62491	0.903;0.019;0.043;0.019	T	0.53251	-0.8465	9	0.66056	D	0.02	-2.6014	3.2326	0.06754	0.1839:0.3392:0.0:0.4769	.	837;750;804;864	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	K	733;864;750;804;837	ENSP00000345846:N733K;ENSP00000375899:N864K;ENSP00000342096:N804K;ENSP00000398210:N837K	ENSP00000342096:N804K	N	+	3	2	SP140	230885631	0.001000	0.12720	0.001000	0.08648	0.198000	0.23893	-0.041000	0.12084	-0.546000	0.06216	-0.695000	0.03696	AAT		0.398	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		17	154	0	0	0	0.004007	0	17	154				
CHRND	1144	broad.mit.edu	37	2	233399022	233399022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:233399022C>A	ENST00000258385.3	+	11	1373	c.1341C>A	c.(1339-1341)aaC>aaA	p.N447K	CHRND_ENST00000457943.2_Missense_Mutation_p.N253K|CHRND_ENST00000543200.1_Missense_Mutation_p.N432K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	447					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.N447K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TCATTGTTAACCACATGAGGG	0.502																																							uc002vsw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1339-1341)AAC>AAA		nicotinic acetylcholine receptor delta							76.0	75.0	76.0					2																	233399022		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233399022C>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1341C>A	2.37:g.233399022C>A	ENSP00000258385:p.Asn447Lys					CHRND_uc010zmg.1_Missense_Mutation_p.N432K|CHRND_uc010fyc.2_Missense_Mutation_p.N320K|CHRND_uc010zmh.1_Missense_Mutation_p.N253K	p.N447K	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	11	1345	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	447			Cytoplasmic (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1341C>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	c	10.36	1.329727	0.24167	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.84944	-1.92;-1.92;-1.92	5.19	1.05	0.20165	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.358092	0.33075	N	0.005317	T	0.59155	0.2173	N	0.02011	-0.69	0.34049	D	0.655854	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.13407	0.009;0.003;0.003;0.003	T	0.54043	-0.8352	10	0.15952	T	0.53	.	7.281	0.26312	0.0:0.5646:0.1904:0.245	.	253;432;447;447	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	K	432;447;253	ENSP00000438380:N432K;ENSP00000258385:N447K;ENSP00000391055:N253K	ENSP00000258385:N447K	N	+	3	2	CHRND	233107266	0.012000	0.17670	1.000000	0.80357	0.989000	0.77384	-0.107000	0.10873	0.596000	0.29794	0.457000	0.33378	AAC		0.502	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			21	55	1	0	1.10923e-09	0.00278	1.47898e-09	21	55				
SH3BP4	23677	broad.mit.edu	37	2	235951690	235951690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:235951690G>T	ENST00000409212.1	+	4	2784	c.2277G>T	c.(2275-2277)agG>agT	p.R759S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R759S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R759S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	759					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.R759S(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)		CCTCCGTGAGGACCCTGCTCA	0.632																																							uc002vvp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2275-2277)AGG>AGT		SH3-domain binding protein 4							36.0	36.0	36.0					2																	235951690		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951690G>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.2277G>T	2.37:g.235951690G>T	ENSP00000386862:p.Arg759Ser					SH3BP4_uc010fym.2_Missense_Mutation_p.R759S|SH3BP4_uc002vvq.2_Missense_Mutation_p.R759S	p.R759S	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	2670	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	759					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2277G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677099	0.47886	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.10763	2.84;2.84;2.84	5.09	0.961	0.19638	.	0.048730	0.85682	D	0.000000	T	0.26376	0.0644	M	0.68317	2.08	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.00225	-1.1901	10	0.51188	T	0.08	-35.42	10.729	0.46085	0.0769:0.5517:0.3714:0.0	.	759;759	A8K594;Q9P0V3	.;SH3B4_HUMAN	S	759	ENSP00000375867:R759S;ENSP00000386862:R759S;ENSP00000340237:R759S	ENSP00000340237:R759S	R	+	3	2	SH3BP4	235616429	1.000000	0.71417	0.659000	0.29680	0.995000	0.86356	1.234000	0.32660	-0.104000	0.12154	0.655000	0.94253	AGG		0.632	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			12	56	1	0	2.62699e-14	0.003163	3.82548e-14	12	56				
LRRFIP1	9208	broad.mit.edu	37	2	238672084	238672084	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:238672084C>T	ENST00000392000.4	+	11	1845	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	LRRFIP1_ENST00000244815.5_Silent_p.N552N|LRRFIP1_ENST00000289175.6_Silent_p.N520N|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	576	DNA-binding.|Lys-rich.				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.N552N(1)|p.N576N(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)		aaaagaaaaacaagaagaaaa	0.378																																							uc002vxe.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)	3						c.(1726-1728)AAC>AAT		leucine rich repeat (in FLII) interacting							38.0	42.0	41.0					2																	238672084		2201	4296	6497	SO:0001819	synonymous_variant	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.chr2:238672084C>T	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	ENST00000392000.4:c.1728C>T	2.37:g.238672084C>T						LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Silent_p.N552N|LRRFIP1_uc002vxf.2_Silent_p.N520N	p.N576N	NM_001137552	NP_001131024	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)	11	2020	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	576			DNA-binding.|Lys-rich.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.1728C>T	CCDS46552.1																																																																																				0.378	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		12	76	0	0	0	0.001368	0	12	76				
HDAC4	9759	broad.mit.edu	37	2	239974820	239974820	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:239974820C>A	ENST00000345617.3	-	27	4019	c.3228G>T	c.(3226-3228)gaG>gaT	p.E1076D	HDAC4_ENST00000543185.1_Missense_Mutation_p.E660D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1076	Histone deacetylase.				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.E1076D(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)		CTTCCATGGGCTCCTCATCTG	0.567																																							uc002vyk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(3226-3228)GAG>GAT		histone deacetylase 4							84.0	82.0	82.0					2																	239974820		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.chr2:239974820C>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.3228G>T	2.37:g.239974820C>A	ENSP00000264606:p.Glu1076Asp					HDAC4_uc010fyy.2_Missense_Mutation_p.E1033D	p.E1076D	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)	27	4020	-		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)	1076			Nuclear export signal (By similarity).|Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3228G>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.759014|2.759014	0.49468|0.49468	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185|ENST00000430200	T;T|.	0.70045|.	-0.11;-0.45|.	4.7|4.7	2.64|2.64	0.31445|0.31445	.|.	0.107189|.	0.64402|.	D|.	0.000009|.	T|T	0.71651|0.71651	0.3365|0.3365	M|M	0.83118|0.83118	2.625|2.625	0.52099|0.52099	D|D	0.999943|0.999943	D;D|.	0.64830|.	0.994;0.994|.	D;D|.	0.70716|.	0.97;0.97|.	T|T	0.70920|0.70920	-0.4741|-0.4741	10|5	0.72032|.	D|.	0.01|.	.|.	7.5978|7.5978	0.28058|0.28058	0.0:0.696:0.0:0.304|0.0:0.696:0.0:0.304	.|.	1044;1076|.	Q53SM2;P56524|.	.;HDAC4_HUMAN|.	D|I	1076;964;660|167	ENSP00000264606:E1076D;ENSP00000440481:E660D|.	ENSP00000264606:E1076D|.	E|S	-|-	3|2	2|0	HDAC4|HDAC4	239639757|239639757	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	0.479000|0.479000	0.22228|0.22228	0.953000|0.953000	0.37825|0.37825	0.563000|0.563000	0.77884|0.77884	GAG|AGC		0.567	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		17	79	1	0	1.99824e-07	0.00499	2.46017e-07	17	79				
KIF1A	547	broad.mit.edu	37	2	241727624	241727624	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:241727624C>A	ENST00000320389.7	-	4	365	c.207G>T	c.(205-207)tcG>tcT	p.S69S	KIF1A_ENST00000498729.2_Silent_p.S69S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	69	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.S69S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCTGCTTCTGCGACGCGTAGT	0.602																																							uc002vzy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(205-207)TCG>TCT		axonal transport of synaptic vesicles							78.0	77.0	78.0					2																	241727624		2195	4296	6491	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241727624C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.207G>T	2.37:g.241727624C>A						KIF1A_uc010fzk.2_Silent_p.S69S|KIF1A_uc002vzz.1_Silent_p.S69S	p.S69S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	4	353	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	69			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.207G>T	CCDS46561.1																																																																																				0.602	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		7	21	1	0	0.000157383	0.00308	0.000176986	7	21				
ANO7	50636	broad.mit.edu	37	2	242142826	242142826	+	Missense_Mutation	SNP	C	C	A	rs200243170		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:242142826C>A	ENST00000274979.8	+	9	1067	c.964C>A	c.(964-966)Cgc>Agc	p.R322S	ANO7_ENST00000402430.3_Missense_Mutation_p.R321S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	322					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.R322S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCACTGGGCGCGCTGGGGCAA	0.687																																							uc002wax.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(964-966)CGC>AGC		transmembrane protein 16G isoform NGEP long							32.0	27.0	29.0					2																	242142826		2186	4298	6484	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142826C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.964C>A	2.37:g.242142826C>A	ENSP00000274979:p.Arg322Ser						p.R322S	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			9	1067	+			322			Cytoplasmic (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.964C>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205190	0.09704	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.70869	-0.52;-0.52	3.27	0.751	0.18392	.	0.604659	0.12174	U	0.492746	T	0.57242	0.2040	L	0.48935	1.535	0.34943	D	0.750473	P	0.43314	0.803	B	0.37198	0.243	T	0.61652	-0.7019	10	0.42905	T	0.14	.	6.583	0.22605	0.2241:0.6608:0.0:0.1151	.	322	Q6IWH7	ANO7_HUMAN	S	322;321	ENSP00000274979:R322S;ENSP00000385418:R321S	ENSP00000274979:R322S	R	+	1	0	ANO7	241791499	0.000000	0.05858	0.262000	0.24481	0.001000	0.01503	-0.148000	0.10219	0.485000	0.27652	-0.339000	0.08088	CGC		0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		8	6	1	0	0.000274275	0.004482	0.000305179	8	6				
SRXN1	140809	broad.mit.edu	37	20	629553	629553	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:629553T>A	ENST00000381962.3	-	2	403	c.219A>T	c.(217-219)ccA>ccT	p.P73P	RP5-850E9.3_ENST00000488788.2_Nonsense_Mutation_p.R78*	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	73					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)	p.P73P(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCACGCTGTCTGGGTCCTCCT	0.562																																							uc002wea.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(217-219)CCA>CCT		sulfiredoxin 1 homolog							30.0	30.0	30.0					20																	629553		2203	4300	6503	SO:0001819	synonymous_variant	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629553T>A	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.219A>T	20.37:g.629553T>A						SRXN1_uc002web.2_RNA	p.P73P	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			2	280	-			73					B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	c.219A>T	CCDS13005.1																																																																																				0.562	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		4	48	0	0	0	0.009096	0	4	48				
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	G	rs147506152		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:2375141C>G	ENST00000202625.2	+	2	112	c.51C>G	c.(49-51)ggC>ggG	p.G17G	TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647																																							uc002wfy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(49-51)GGC>GGG		transglutaminase 6	L-Glutamine(DB00130)						43.0	40.0	41.0					20																	2375141		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375141C>G	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.51C>G	20.37:g.2375141C>G						TGM6_uc010gal.1_Silent_p.G17G	p.G17G	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	112	+			17					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.51C>G	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	30	0	0	0	0.009096	0	4	30				
ADAM33	80332	broad.mit.edu	37	20	3652889	3652889	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:3652889G>T	ENST00000356518.2	-	14	1730	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	ADAM33_ENST00000379861.4_Missense_Mutation_p.P497T|ADAM33_ENST00000350009.2_Missense_Mutation_p.P497T|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	497	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P497T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TAAACGTCTGGGGGACAGTGG	0.657																																							uc002wit.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1489-1491)CCA>ACA		ADAM metallopeptidase domain 33 isoform alpha							69.0	69.0	69.0					20																	3652889		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652889G>T	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1489C>A	20.37:g.3652889G>T	ENSP00000348912:p.Pro497Thr					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.P497T|ADAM33_uc002wis.2_Missense_Mutation_p.P19T|ADAM33_uc002wiu.2_Missense_Mutation_p.P497T|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	p.P497T	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			14	1576	-			497			Extracellular (Potential).|Disintegrin.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1489C>A	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	g	3.400	-0.122512	0.06795	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.11063	2.81;2.81;2.81	4.54	-0.277	0.12898	Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	T	0.03915	0.0110	N	0.04162	-0.26	0.23063	N	0.998357	B;B;B	0.25667	0.107;0.131;0.131	B;B;B	0.22152	0.023;0.038;0.038	T	0.46898	-0.9158	9	0.10636	T	0.68	.	7.3253	0.26551	0.1927:0.5417:0.2656:0.0	.	497;497;497	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	T	497;497;497;377	ENSP00000348912:P497T;ENSP00000369190:P497T;ENSP00000322550:P497T	ENSP00000322550:P497T	P	-	1	0	ADAM33	3600889	0.000000	0.05858	0.333000	0.25482	0.167000	0.22549	-0.249000	0.08842	0.128000	0.18479	0.457000	0.33378	CCA		0.657	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		15	93	1	0	2.32078e-09	0.003163	3.06421e-09	15	93				
ADRA1D	146	broad.mit.edu	37	20	4202311	4202311	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:4202311C>G	ENST00000379453.4	-	2	1694	c.1578G>C	c.(1576-1578)gcG>gcC	p.A526A		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	526				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	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.A526A(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					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)	CTGCGCGCTGCGCGCCCCCGG	0.726																																							uc002wkr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1576-1578)GCG>GCC		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						17.0	19.0	18.0					20																	4202311		2172	4251	6423	SO:0001819	synonymous_variant	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202311C>G	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1578G>C	20.37:g.4202311C>G							p.A526A	NM_000678	NP_000669	P25100	ADA1D_HUMAN			2	1633	-			526	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).		Cytoplasmic (By similarity).		Q9NPY0	Silent	SNP	ENST00000379453.4	37	c.1578G>C	CCDS13079.1																																																																																				0.726	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		8	32	0	0	0	0.001368	0	8	32				
RASSF2	9770	broad.mit.edu	37	20	4770302	4770302	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:4770302G>T	ENST00000379400.3	-	8	774	c.579C>A	c.(577-579)gtC>gtA	p.V193V	RASSF2_ENST00000379376.2_Silent_p.V193V|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	193	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V193V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGTTGATGCGGACGTTGGTGA	0.542																																					Melanoma(158;1891 3343 50738)	Melanoma(158;1891 3343 50738)	uc002wld.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(577-579)GTC>GTA		Ras association domain family 2							160.0	139.0	146.0					20																	4770302		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770302G>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.579C>A	20.37:g.4770302G>T						RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.V193V|RASSF2_uc010gbh.2_5'Flank	p.V193V	NM_170774	NP_739580	P50749	RASF2_HUMAN			7	633	-			193			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.579C>A	CCDS13083.1																																																																																				0.542	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		15	49	1	0	6.31663e-08	0.003163	7.95241e-08	15	49				
TMEM230	29058	broad.mit.edu	37	20	5081562	5081562	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:5081562C>A	ENST00000379286.2	-	5	658	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	TMEM230_ENST00000379279.2_Missense_Mutation_p.V80F|TMEM230_ENST00000379283.2_Missense_Mutation_p.V80F|TMEM230_ENST00000492419.1_5'UTR|RNA5SP474_ENST00000391234.1_RNA|TMEM230_ENST00000342308.5_Missense_Mutation_p.V143F|TMEM230_ENST00000379277.2_Missense_Mutation_p.V80F|TMEM230_ENST00000202834.7_Missense_Mutation_p.V80F	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	80						integral component of membrane (GO:0016021)		p.V80F(1)|p.V143F(1)									AGCACTGGAACGGCCCGGTCT	0.478											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002wll.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(238-240)GTT>TTT		hypothetical protein LOC29058 isoform 2							92.0	82.0	86.0					20																	5081562		2203	4300	6503	SO:0001583	missense	29058					integral to membrane		g.chr20:5081562C>A	AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 30"""	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.238G>T	20.37:g.5081562C>A	ENSP00000368588:p.Val80Phe		OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	C20orf30_uc010gbi.2_Intron|C20orf30_uc002wlk.2_Missense_Mutation_p.V143F|C20orf30_uc002wlm.2_Missense_Mutation_p.V80F|C20orf30_uc002wln.2_Missense_Mutation_p.V80F|C20orf30_uc002wlo.2_RNA	p.V80F	NM_001009924	NP_001009924	Q96A57	CT030_HUMAN			5	704	-			80			Helical; (Potential).		B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	37	c.238G>T	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	C	6.355	0.433650	0.12045	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277	T	0.47528	0.84	4.81	-0.76	0.11041	.	0.293168	0.37219	N	0.002196	T	0.21841	0.0526	N	0.12746	0.255	0.41681	D	0.989298	B;B	0.19935	0.004;0.04	B;B	0.19946	0.008;0.027	T	0.10291	-1.0636	10	0.10111	T	0.7	-4.9798	8.0942	0.30818	0.0:0.3566:0.0:0.6434	.	80;143	Q96A57;Q96A57-2	CT030_HUMAN;.	F	80;143;80;80;80;80;80	ENSP00000341364:V143F	ENSP00000202834:V80F	V	-	1	0	C20orf30	5029562	0.004000	0.15560	0.988000	0.46212	0.986000	0.74619	-0.105000	0.10907	0.010000	0.14839	-0.203000	0.12734	GTT		0.478	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1			26	41	1	0	2.44723e-14	0.004656	3.56919e-14	26	41				
TMX4	56255	broad.mit.edu	37	20	7963259	7963259	+	Missense_Mutation	SNP	C	C	T	rs376577418		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:7963259C>T	ENST00000246024.2	-	8	904	c.689G>A	c.(688-690)cGg>cAg	p.R230Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	230	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R230Q(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTCTGATCTCCGATTCTGCTC	0.393																																							uc002wmx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CGG>CAG		thioredoxin-related transmembrane protein 4		C	GLN/ARG	0,4406		0,0,2203	59.0	53.0	55.0		689	-5.0	0.0	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMX4	NM_021156.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	230/350	7963259	1,13005	2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963259C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.689G>A	20.37:g.7963259C>T	ENSP00000246024:p.Arg230Gln						p.R230Q	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			8	822	-			230			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.689G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750788	0.15778	0.0	1.16E-4	ENSG00000125827	ENST00000246024	T	0.08984	3.03	6.03	-5.0	0.03001	.	1.635290	0.02992	N	0.146993	T	0.02649	0.0080	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37709	-0.9694	10	0.09590	T	0.72	1.6838	4.233	0.10613	0.3662:0.3041:0.0:0.3296	.	230	Q9H1E5	TMX4_HUMAN	Q	230	ENSP00000246024:R230Q	ENSP00000246024:R230Q	R	-	2	0	TMX4	7911259	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.868000	0.04236	-1.194000	0.02684	-1.644000	0.00765	CGG		0.393	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		8	72	0	0	0	0.008291	0	8	72				
PAK7	57144	broad.mit.edu	37	20	9546831	9546831	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:9546831C>A	ENST00000378429.3	-	6	1737	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	PAK7_ENST00000378423.1_Silent_p.T397T|PAK7_ENST00000353224.5_Silent_p.T397T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	397	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T397T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGTAGGAAGCCGTGGAGATGT	0.622																																							uc002wnl.2		NA																	1	Substitution - coding silent(1)	p.T397K(2)	lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1189-1191)ACG>ACT		p21-activated kinase 7							116.0	110.0	112.0					20																	9546831		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546831C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1191G>T	20.37:g.9546831C>A						PAK7_uc002wnk.2_Silent_p.T397T|PAK7_uc002wnj.2_Silent_p.T397T|PAK7_uc010gby.1_Silent_p.T397T	p.T397T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1736	-			397			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1191G>T	CCDS13107.1																																																																																				0.622	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			6	165	1	0	0.00116845	0.001168	0.00127467	6	165				
ANKEF1	63926	broad.mit.edu	37	20	10033801	10033801	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:10033801A>G	ENST00000378380.3	+	8	2241	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R638G|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	638							calcium ion binding (GO:0005509)	p.R638G(1)									TGCTGATTATAGAATAATTGA	0.348																																							uc002wno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1912-1914)AGA>GGA		ankyrin repeat domain protein 5							123.0	133.0	129.0					20																	10033801		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10033801A>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1912A>G	20.37:g.10033801A>G	ENSP00000367631:p.Arg638Gly					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.R638G|ANKRD5_uc010gbz.2_Missense_Mutation_p.R449G	p.R638G	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			9	2305	+			638			ANK 8.		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1912A>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419559	0.42918	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70045	-0.45;-0.45	5.39	4.25	0.50352	Ankyrin repeat-containing domain (3);	0.089476	0.85682	D	0.000000	T	0.70334	0.3212	L	0.45581	1.43	0.42825	D	0.994	D	0.69078	0.997	P	0.60789	0.879	T	0.67684	-0.5607	10	0.28530	T	0.3	2.7353	10.8678	0.46866	0.7058:0.2942:0.0:0.0	.	638	Q9NU02	ANKR5_HUMAN	G	638	ENSP00000367644:R638G;ENSP00000367631:R638G	ENSP00000367631:R638G	R	+	1	2	ANKRD5	9981801	0.996000	0.38824	0.998000	0.56505	0.123000	0.20343	1.861000	0.39438	2.026000	0.59711	0.533000	0.62120	AGA		0.348	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		5	210	0	0	0	0.001168	0	5	210				
KIF16B	55614	broad.mit.edu	37	20	16488723	16488723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:16488723C>A	ENST00000354981.2	-	7	736	c.579G>T	c.(577-579)caG>caT	p.Q193H	KIF16B_ENST00000408042.1_Missense_Mutation_p.Q193H|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q193H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	193	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q193H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACCATAATTCTGTACTAAAT	0.413																																							uc002wpg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(577-579)CAG>CAT		kinesin-like motor protein C20orf23							182.0	173.0	176.0					20																	16488723		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16488723C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.579G>T	20.37:g.16488723C>A	ENSP00000347076:p.Gln193His					KIF16B_uc010gch.1_Missense_Mutation_p.Q193H|KIF16B_uc010gci.1_Missense_Mutation_p.Q193H|KIF16B_uc010gcj.1_Missense_Mutation_p.Q193H	p.Q193H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			7	737	-			193			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.579G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064234	0.55432	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75367	-0.93;-0.93;-0.93	5.96	2.99	0.34606	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	N	0.11724	0.165	0.80722	D	1	P;P;D;D	0.76494	0.824;0.824;0.999;0.999	B;B;D;D	0.79108	0.37;0.37;0.986;0.992	T	0.69716	-0.5070	10	0.48119	T	0.1	.	7.9023	0.29742	0.0:0.639:0.0:0.361	.	193;193;193;193	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	193	ENSP00000347076:Q193H;ENSP00000347995:Q193H;ENSP00000384164:Q193H	ENSP00000347076:Q193H	Q	-	3	2	KIF16B	16436723	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.199000	0.32235	0.867000	0.35654	-0.142000	0.14014	CAG		0.413	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	291	1	0	8.12818e-05	0.001984	9.27259e-05	6	291				
PLAGL2	5326	broad.mit.edu	37	20	30784356	30784356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:30784356C>G	ENST00000246229.4	-	3	1654	c.1390G>C	c.(1390-1392)Ggg>Cgg	p.G464R		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	464					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G464R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGGTCCCCCAGCTCCTGGG	0.597																																					Colon(163;15 1893 11280 16306 47518)	Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1390-1392)GGG>CGG		pleiomorphic adenoma gene-like 2							44.0	46.0	46.0					20																	30784356		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784356C>G		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1390G>C	20.37:g.30784356C>G	ENSP00000246229:p.Gly464Arg						p.G464R	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1607	-			464					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1390G>C	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373198	0.24857	.	.	ENSG00000126003	ENST00000246229	T	0.08546	3.08	5.0	5.0	0.66597	.	0.117156	0.64402	D	0.000016	T	0.09158	0.0226	L	0.38175	1.15	0.54753	D	0.99998	P	0.48694	0.914	B	0.43575	0.424	T	0.03728	-1.1009	10	0.52906	T	0.07	.	11.8982	0.52667	0.0:0.9212:0.0:0.0788	.	464	Q9UPG8	PLAL2_HUMAN	R	464	ENSP00000246229:G464R	ENSP00000246229:G464R	G	-	1	0	PLAGL2	30248017	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.026000	0.49689	2.595000	0.87683	0.655000	0.94253	GGG		0.597	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		10	100	0	0	0	0.008291	0	10	100				
CEP250	11190	broad.mit.edu	37	20	34060658	34060658	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34060658T>A	ENST00000397527.1	+	12	1929		c.e12+2		CEP250_ENST00000342580.4_Splice_Site	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa						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.?(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)			GCTGTGCAGGTAGGAACCCTC	0.512																																							uc002xcm.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.e13+2		centrosomal protein 2							125.0	115.0	118.0					20																	34060658		2203	4300	6503	SO:0001630	splice_region_variant	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.chr20:34060658T>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.1209+2T>A	20.37:g.34060658T>A						CEP250_uc010zve.1_Splice_Site|CEP250_uc010zvd.1_Splice_Site	p.Q403_splice	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		13	1880	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)							E1P5Q3|O14812|O60588|Q9H450	Splice_Site	SNP	ENST00000397527.1	37	c.1209_splice	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649224	0.47362	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7489	0.62894	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP250	33524072	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	4.145000	0.58065	2.371000	0.80710	0.533000	0.62120	.		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	Intron	31	177	0	0	0	0.007291	0	31	177				
RBM12	10137	broad.mit.edu	37	20	34241207	34241207	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34241207A>G	ENST00000374114.3	-	3	2301	c.2038T>C	c.(2038-2040)Tca>Cca	p.S680P	RBM12_ENST00000374104.3_Missense_Mutation_p.S680P|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.S680P|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	680	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S680P(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTTATTGCTGAACCAGGCAGT	0.597																																							uc002xdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2038-2040)TCA>CCA		RNA binding motif protein 12							36.0	36.0	36.0					20																	34241207		2201	4299	6500	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241207A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2038T>C	20.37:g.34241207A>G	ENSP00000363228:p.Ser680Pro					CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.S680P|RBM12_uc002xds.2_Missense_Mutation_p.S680P	p.S680P	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2270	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		680			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2038T>C	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	A	9.708	1.156241	0.21454	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.14022	2.54;2.54;2.54	3.88	-3.58	0.04597	.	0.899333	0.09181	N	0.837395	T	0.05090	0.0136	N	0.08118	0	0.24316	N	0.995067	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	10	0.30854	T	0.27	0.4181	2.9044	0.05716	0.131:0.3284:0.3731:0.1674	.	680	Q9NTZ6	RBM12_HUMAN	P	680;680;680;479	ENSP00000363228:S680P;ENSP00000352668:S680P;ENSP00000363217:S680P	ENSP00000339879:S479P	S	-	1	0	RBM12	33704621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.161000	0.10026	-0.655000	0.05387	-1.222000	0.01597	TCA		0.597	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		32	69	0	0	0	0.009535	0	32	69				
RBM12	10137	broad.mit.edu	37	20	34242230	34242230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34242230C>A	ENST00000374114.3	-	3	1278	c.1015G>T	c.(1015-1017)Gta>Tta	p.V339L	RBM12_ENST00000374104.3_Missense_Mutation_p.V339L|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339L|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	339	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V339L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTTCGACCTACATGATCTTTC	0.398																																							uc002xdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1015-1017)GTA>TTA		RNA binding motif protein 12							125.0	122.0	123.0					20																	34242230		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242230C>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1015G>T	20.37:g.34242230C>A	ENSP00000363228:p.Val339Leu					CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.V339L|RBM12_uc002xds.2_Missense_Mutation_p.V339L	p.V339L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1247	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		339			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1015G>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	2.622	-0.288354	0.05605	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.28895	1.59;1.59;1.59	4.92	3.98	0.46160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.186139	0.37483	N	0.002073	T	0.12220	0.0297	N	0.02247	-0.625	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.28530	T	0.3	-3.1411	9.8693	0.41164	0.0:0.8451:0.0:0.1549	.	339	Q9NTZ6	RBM12_HUMAN	L	339;339;339;138	ENSP00000363228:V339L;ENSP00000352668:V339L;ENSP00000363217:V339L	ENSP00000339879:V138L	V	-	1	0	RBM12	33705644	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.058000	0.41374	1.315000	0.45114	0.549000	0.68633	GTA		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		42	291	1	0	9.88483e-10	0.007835	1.32356e-09	42	291				
CNBD2	140894	broad.mit.edu	37	20	34596240	34596240	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34596240T>A	ENST00000373973.3	+	9	1165	c.992T>A	c.(991-993)tTt>tAt	p.F331Y	CNBD2_ENST00000538900.1_Missense_Mutation_p.F331Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.F331Y			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	331								p.F331Y(1)									ATGGAAAGATTTAAGGAATTC	0.398																																							uc002xes.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(991-993)TTT>TAT		SubName: Full=C20orf152 protein;							101.0	114.0	109.0					20																	34596240		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34596240T>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.992T>A	20.37:g.34596240T>A	ENSP00000363084:p.Phe331Tyr					C20orf152_uc002xer.1_Missense_Mutation_p.F331Y|C20orf152_uc010gfp.1_RNA	p.F331Y			Q96M20	CT152_HUMAN			9	1148	+	Breast(12;0.00631)		331					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.992T>A		.	.	.	.	.	.	.	.	.	.	T	9.549	1.115317	0.20795	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.27557	1.72;1.7;1.66	5.03	2.72	0.32119	Cyclic nucleotide-binding-like (1);	0.186791	0.38492	N	0.001679	T	0.21022	0.0506	L	0.43152	1.355	0.27933	N	0.937808	B;B	0.15930	0.009;0.015	B;B	0.16289	0.006;0.015	T	0.26258	-1.0108	10	0.12103	T	0.63	-9.9327	7.8051	0.29198	0.3584:0.0:0.0:0.6416	.	331;331	Q96M20;Q96M20-2	CT152_HUMAN;.	Y	331	ENSP00000363084:F331Y;ENSP00000340954:F331Y;ENSP00000442729:F331Y	ENSP00000340954:F331Y	F	+	2	0	C20orf152	34059654	1.000000	0.71417	0.989000	0.46669	0.275000	0.26752	1.157000	0.31724	0.456000	0.26937	-0.444000	0.05651	TTT		0.398	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		7	264	0	0	0	0.001984	0	7	264				
C20orf24	55969	broad.mit.edu	37	20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:35236149G>T	ENST00000373852.5	+	2	281	c.146G>T	c.(145-147)cGa>cTa	p.R49L	C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L|C20orf24_ENST00000344795.3_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	49								p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423																																							uc002xfq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(145-147)CGA>CTA		RAB5-interacting protein isoform a							176.0	162.0	167.0					20																	35236149		2203	4300	6503	SO:0001583	missense	55969						protein binding	g.chr20:35236149G>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.146G>T	20.37:g.35236149G>T	ENSP00000362958:p.Arg49Leu					C20orf24_uc002xfo.2_Missense_Mutation_p.R75L|C20orf24_uc002xfp.2_Missense_Mutation_p.R49L|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Missense_Mutation_p.R49L|C20orf24_uc002xfs.2_Missense_Mutation_p.R49L	p.R49L	NM_018840	NP_061328	Q9BUV8	CT024_HUMAN			2	334	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	49					E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.146G>T	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526283	0.96431	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.89287	3.02	0.58432	D	0.999999	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;0.991;0.995	D	0.87290	0.2298	9	0.87932	D	0	-22.6447	17.5412	0.87848	0.0:0.0:1.0:0.0	.	49;49;49;49;49	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3;Q9BUV8-4	CT024_HUMAN;.;.;.;.	L	49	.	ENSP00000341213:R49L	R	+	2	0	C20orf24	34669563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.225000	0.95219	2.722000	0.93159	0.655000	0.94253	CGA		0.423	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		20	170	1	0	1.10923e-09	0.00278	1.47898e-09	20	170				
MROH8	140699	broad.mit.edu	37	20	35783522	35783522	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:35783522C>G	ENST00000400441.3	-	9	1017	c.1018G>C	c.(1018-1020)Gcc>Ccc	p.A340P	MROH8_ENST00000441008.2_Missense_Mutation_p.A326P|MROH8_ENST00000217333.8_Intron			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	243								p.R366R(2)|p.A340P(1)									CTGGCCGTGGCCCGTTCCCGC	0.502																																							uc010zvu.1		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)		0						c.(1048-1050)GCC>CCC		hypothetical protein LOC140699 isoform 1							131.0	127.0	128.0					20																	35783522		1967	4160	6127	SO:0001583	missense	140699							g.chr20:35783522C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1018G>C	20.37:g.35783522C>G	ENSP00000383291:p.Ala340Pro					C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.A350P|C20orf132_uc002xgn.2_Intron	p.A350P	NM_152503	NP_689716	Q9H579	CT132_HUMAN			11	1139	-		Myeloproliferative disorder(115;0.00878)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1048G>C		.	.	.	.	.	.	.	.	.	.	C	20.2	3.945054	0.73672	.	.	ENSG00000101353	ENST00000441008;ENST00000400441	T;T	0.74632	-0.86;1.01	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.86948	0.6056	M	0.83223	2.63	0.47123	D	0.999327	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.88220	0.2896	10	0.87932	D	0	-8.3858	15.4024	0.74852	0.0:1.0:0.0:0.0	.	340;350	E7ETR9;Q6PF12	.;.	P	326;340	ENSP00000392144:A326P;ENSP00000383291:A340P	ENSP00000383291:A340P	A	-	1	0	C20orf132	35216936	0.999000	0.42202	0.997000	0.53966	0.332000	0.28634	2.332000	0.43903	2.791000	0.96007	0.655000	0.94253	GCC		0.502	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		9	157	0	0	0	0.008291	0	9	157				
JPH2	57158	broad.mit.edu	37	20	42747215	42747215	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:42747215C>T	ENST00000372980.3	-	3	2090	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	406	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.L406L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTTGGCAGCCAGGGCGGCCT	0.612																																							uc002xli.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1216-1218)CTG>CTA		junctophilin 2 isoform 1							95.0	96.0	96.0					20																	42747215		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747215C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1218G>A	20.37:g.42747215C>T							p.L406L	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2091	-		Myeloproliferative disorder(115;0.0122)	406			Ala-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.1218G>A	CCDS13325.1																																																																																				0.612	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			20	182	0	0	0	0.00278	0	20	182				
SLC2A10	81031	broad.mit.edu	37	20	45353679	45353679	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:45353679G>T	ENST00000359271.2	+	2	254		c.e2-1			NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10						glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGTTTTTTAGGCCACTCCCC	0.493																																							uc002xsl.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		solute carrier family 2 member 10							225.0	159.0	182.0					20																	45353679		2203	4300	6503	SO:0001630	splice_region_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353679G>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.5-1G>T	20.37:g.45353679G>T							p.G2_splice	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	102	+		Myeloproliferative disorder(115;0.0122)						A8K4J6|Q3MIX5|Q9H4I6	Splice_Site	SNP	ENST00000359271.2	37	c.5_splice	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472564	0.26423	.	.	ENSG00000197496	ENST00000359271	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9732	0.86306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC2A10	44787086	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	9.083000	0.94067	2.067000	0.61834	0.195000	0.17529	.		0.493	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		Intron	14	136	1	0	0.00185496	0.001855	0.00201663	14	136				
SLC2A10	81031	broad.mit.edu	37	20	45358027	45358027	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:45358027G>C	ENST00000359271.2	+	4	1697	c.1447G>C	c.(1447-1449)Gga>Cga	p.G483R		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	483					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.G483R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCTGCTCTACGGACTGACCGC	0.582																																							uc002xsl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1447-1449)GGA>CGA		solute carrier family 2 member 10							68.0	66.0	67.0					20																	45358027		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45358027G>C	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1447G>C	20.37:g.45358027G>C	ENSP00000352216:p.Gly483Arg						p.G483R	NM_030777	NP_110404	O95528	GTR10_HUMAN			4	1544	+		Myeloproliferative disorder(115;0.0122)	483			Helical; Name=12; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1447G>C	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079479	0.94050	.	.	ENSG00000197496	ENST00000359271	D	0.82619	-1.63	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104409	0.64402	D	0.000005	D	0.93648	0.7971	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94389	0.7612	10	0.72032	D	0.01	-10.3281	19.8917	0.96932	0.0:0.0:1.0:0.0	.	483	O95528	GTR10_HUMAN	R	483	ENSP00000352216:G483R	ENSP00000352216:G483R	G	+	1	0	SLC2A10	44791434	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.194000	0.94962	2.705000	0.92388	0.591000	0.81541	GGA		0.582	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			11	123	0	0	0	0.000978	0	11	123				
SULF2	55959	broad.mit.edu	37	20	46305851	46305851	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:46305851G>T	ENST00000359930.4	-	9	2072	c.1221C>A	c.(1219-1221)gtC>gtA	p.V407V	SULF2_ENST00000361612.4_Silent_p.V407V|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Silent_p.V407V|SULF2_ENST00000484875.1_Silent_p.V407V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	407					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.V407V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTCCCGCCAGACCCTCATCT	0.612																																							uc002xto.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1219-1221)GTC>GTA		sulfatase 2 isoform a precursor							74.0	79.0	78.0					20																	46305851		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46305851G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1221C>A	20.37:g.46305851G>T						SULF2_uc002xtr.2_Silent_p.V407V|SULF2_uc002xtq.2_Silent_p.V407V	p.V407V	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			9	1551	-			407					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.1221C>A	CCDS13408.1																																																																																				0.612	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		26	99	1	0	1.4374e-25	0.00361	2.32932e-25	26	99				
SALL4	57167	broad.mit.edu	37	20	50408003	50408003	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:50408003C>T	ENST00000217086.4	-	2	1130	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.G340D|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	340					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G340D(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGCACCGAGCCCGGGGCCTG	0.637																																							uc002xwh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1018-1020)GGC>GAC		sal-like 4							31.0	35.0	34.0					20																	50408003		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408003C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1019G>A	20.37:g.50408003C>T	ENSP00000217086:p.Gly340Asp					SALL4_uc010gii.2_Missense_Mutation_p.G340D|SALL4_uc002xwi.3_Intron	p.G340D	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1120	-			340					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1019G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168606	0.57584	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.49720	0.77;0.77	5.29	5.29	0.74685	.	0.295217	0.24750	N	0.035902	T	0.59487	0.2197	M	0.84511	2.7	0.80722	D	1	P;D	0.56035	0.883;0.974	B;P	0.47673	0.274;0.554	T	0.66677	-0.5863	10	0.51188	T	0.08	-35.3623	14.2293	0.65879	0.0:0.9261:0.0:0.0739	.	340;340	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	D	340	ENSP00000217086:G340D;ENSP00000379319:G340D	ENSP00000217086:G340D	G	-	2	0	SALL4	49841410	0.932000	0.31603	0.976000	0.42696	0.958000	0.62258	1.864000	0.39469	2.466000	0.83321	0.655000	0.94253	GGC		0.637	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			5	108	0	0	0	0.000602	0	5	108				
ZNF831	128611	broad.mit.edu	37	20	57766576	57766576	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:57766576G>T	ENST00000371030.2	+	1	502	c.502G>T	c.(502-504)Ggt>Tgt	p.G168C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	168							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G168C(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)					GTCCCACACGGGTGAGAGGCC	0.617																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(502-504)GGT>TGT		zinc finger protein 831							79.0	86.0	83.0					20																	57766576		2107	4223	6330	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766576G>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.502G>T	20.37:g.57766576G>T	ENSP00000360069:p.Gly168Cys						p.G168C	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	502	+	all_lung(29;0.0085)		168					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.502G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365171	0.41902	.	.	ENSG00000124203	ENST00000371030	T	0.26660	1.72	5.41	5.41	0.78517	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54727	0.1876	M	0.77103	2.36	0.49582	D	0.999808	D	0.89917	1.0	D	0.91635	0.999	T	0.58901	-0.7554	9	0.87932	D	0	-9.7341	18.1834	0.89786	0.0:0.0:1.0:0.0	.	168	Q5JPB2	ZN831_HUMAN	C	168	ENSP00000360069:G168C	ENSP00000360069:G168C	G	+	1	0	ZNF831	57199971	1.000000	0.71417	0.033000	0.17914	0.036000	0.12997	9.787000	0.99055	2.538000	0.85594	0.561000	0.74099	GGT		0.617	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		19	264	1	0	4.96729e-08	0.008871	6.27865e-08	19	264				
DIDO1	11083	broad.mit.edu	37	20	61542867	61542867	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61542867G>A	ENST00000266070.4	-	3	423	c.98C>T	c.(97-99)aCt>aTt	p.T33I	DIDO1_ENST00000395335.2_Missense_Mutation_p.T33I|DIDO1_ENST00000370366.1_Missense_Mutation_p.T33I|DIDO1_ENST00000354665.4_Missense_Mutation_p.T33I|DIDO1_ENST00000395343.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T33I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T33I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T33I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	33					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T33I(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTGGCGATAGTGGTCCTTCG	0.632																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(97-99)ACT>ATT		death inducer-obliterator 1 isoform c							71.0	71.0	71.0					20																	61542867		2202	4300	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542867G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.98C>T	20.37:g.61542867G>A	ENSP00000266070:p.Thr33Ile					DIDO1_uc002yds.1_Missense_Mutation_p.T33I|DIDO1_uc002ydt.1_Missense_Mutation_p.T33I|DIDO1_uc002ydu.1_Missense_Mutation_p.T33I|DIDO1_uc002ydv.1_Missense_Mutation_p.T33I|DIDO1_uc002ydw.1_Missense_Mutation_p.T33I|DIDO1_uc002ydx.1_Missense_Mutation_p.T33I|DIDO1_uc011aao.1_Missense_Mutation_p.T33I	p.T33I	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			3	362	-	Breast(26;5.68e-08)		33					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.98C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261151	0.59431	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.35421	2.25;2.25;1.89;1.89;1.31;1.31;1.31;1.33;1.33	5.82	4.87	0.63330	.	0.000000	0.42548	U	0.000683	T	0.59729	0.2215	M	0.70595	2.14	0.51767	D	0.999938	D;D;D;D	0.89917	1.0;1.0;0.983;0.99	D;D;P;P	0.91635	0.999;0.999;0.822;0.78	T	0.64829	-0.6315	10	0.87932	D	0	-39.5418	15.0114	0.71552	0.0681:0.0:0.9319:0.0	.	33;33;33;33	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	I	33	ENSP00000266070:T33I;ENSP00000378752:T33I;ENSP00000378749:T33I;ENSP00000378744:T33I;ENSP00000359397:T33I;ENSP00000359394:T33I;ENSP00000346692:T33I;ENSP00000359391:T33I;ENSP00000266071:T33I	ENSP00000266070:T33I	T	-	2	0	DIDO1	61013312	1.000000	0.71417	0.600000	0.28864	0.106000	0.19336	9.258000	0.95555	1.479000	0.48272	0.650000	0.86243	ACT		0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	27	0	0	0	0.000602	0	4	27				
CHRNA4	1137	broad.mit.edu	37	20	61990962	61990962	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61990962C>A	ENST00000370263.4	-	2	387	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CHRNA4_ENST00000463705.1_Intron|RP11-261N11.8_ENST00000370257.1_RNA	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	56					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.A56S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GAGATGTTGGCCACGGGTCGG	0.637																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(166-168)GCC>TCC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						126.0	107.0	114.0					20																	61990962		2198	4293	6491	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61990962C>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.166G>T	20.37:g.61990962C>A	ENSP00000359285:p.Ala56Ser					CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.A56S	NM_000744	NP_000735	P43681	ACHA4_HUMAN			2	344	-	all_cancers(38;1.71e-10)		56			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.166G>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561559	0.27915	.	.	ENSG00000101204	ENST00000370263	T	0.35421	1.31	4.26	3.28	0.37604	Neurotransmitter-gated ion-channel ligand-binding (3);	0.131051	0.49916	D	0.000130	T	0.25269	0.0614	L	0.36672	1.1	0.41654	D	0.989148	B	0.30824	0.296	B	0.25140	0.058	T	0.04065	-1.0980	10	0.17832	T	0.49	.	12.5104	0.56003	0.0:0.6773:0.3227:0.0	.	56	P43681	ACHA4_HUMAN	S	56	ENSP00000359285:A56S	ENSP00000359285:A56S	A	-	1	0	CHRNA4	61461406	0.903000	0.30736	0.998000	0.56505	0.798000	0.45092	1.139000	0.31504	0.740000	0.32651	0.491000	0.48974	GCC		0.637	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	90	1	0	0.000151284	0.001855	0.000171758	14	90				
CHRNA4	1137	broad.mit.edu	37	20	61991018	61991018	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61991018T>A	ENST00000370263.4	-	2	331	c.110A>T	c.(109-111)gAg>gTg	p.E37V	CHRNA4_ENST00000463705.1_Intron|RP11-261N11.8_ENST00000370257.1_RNA	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	37					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.E37V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GAGCCGCTCCTCGGCGTGGGC	0.667																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(109-111)GAG>GTG		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						62.0	62.0	62.0					20																	61991018		2193	4283	6476	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61991018T>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.110A>T	20.37:g.61991018T>A	ENSP00000359285:p.Glu37Val					CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.E37V	NM_000744	NP_000735	P43681	ACHA4_HUMAN			2	288	-	all_cancers(38;1.71e-10)		37			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.110A>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377211	0.82682	.	.	ENSG00000101204	ENST00000370263	T	0.61040	0.14	4.26	4.26	0.50523	Neurotransmitter-gated ion-channel ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86637	0.1889	10	0.87932	D	0	.	13.3832	0.60780	0.0:0.0:0.0:1.0	.	37	P43681	ACHA4_HUMAN	V	37	ENSP00000359285:E37V	ENSP00000359285:E37V	E	-	2	0	CHRNA4	61461462	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	4.899000	0.63245	1.571000	0.49722	0.402000	0.26972	GAG		0.667	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			8	61	0	0	0	0.000978	0	8	61				
ZBTB46	140685	broad.mit.edu	37	20	62421331	62421331	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:62421331A>T	ENST00000245663.4	-	2	930	c.780T>A	c.(778-780)gcT>gcA	p.A260A	ZBTB46_ENST00000302995.2_Silent_p.A260A|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.A260A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	260					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|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.A260A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCATCACCAGCACTCTGCT	0.577																																							uc002ygv.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(778-780)GCT>GCA		zinc finger and BTB domain containing 46							81.0	75.0	77.0					20																	62421331		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421331A>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.780T>A	20.37:g.62421331A>T						ZBTB46_uc002ygu.2_RNA	p.A260A	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	981	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		260					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.780T>A	CCDS13538.1																																																																																				0.577	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		12	114	0	0	0	0.001368	0	12	114				
TPTE	7179	broad.mit.edu	37	21	10920156	10920156	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:10920156C>A	ENST00000361285.4	-	19	1427	c.1098G>T	c.(1096-1098)ctG>ctT	p.L366L	TPTE_ENST00000298232.7_Silent_p.L348L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L328L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	366	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L366L(2)|p.L348L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATAATACAGGCTTTCCT	0.383																																							uc002yip.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1096-1098)CTG>CTT		transmembrane phosphatase with tensin homology							96.0	90.0	92.0					21																	10920156		2203	4299	6502	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920156C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1098G>T	21.37:g.10920156C>A						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.L348L|TPTE_uc002yir.1_Silent_p.L328L|TPTE_uc010gkv.1_Silent_p.L228L	p.L366L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1466	-			366			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1098G>T	CCDS13560.2																																																																																				0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	94	1	0	0.00116845	0.001168	0.00127467	6	94				
TMPRSS15	5651	broad.mit.edu	37	21	19685299	19685299	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:19685299G>T	ENST00000284885.3	-	18	2161	c.2128C>A	c.(2128-2130)Cag>Aag	p.Q710K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	710	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q710K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTTGAAATCTGGGTGGTCCAG	0.383																																							uc002ykw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2128-2130)CAG>AAG		enterokinase precursor							129.0	123.0	125.0					21																	19685299		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19685299G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2128C>A	21.37:g.19685299G>T	ENSP00000284885:p.Gln710Lys						p.Q710K	NM_002772	NP_002763	P98073	ENTK_HUMAN			18	2159	-			710			Extracellular (Potential).|SRCR.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2128C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	8.552	0.875686	0.17395	.	.	ENSG00000154646	ENST00000284885	T	0.47528	0.84	5.71	3.76	0.43208	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.671383	0.14380	N	0.323214	T	0.46619	0.1402	M	0.67953	2.075	0.24143	N	0.99572	B	0.13594	0.008	B	0.14578	0.011	T	0.35992	-0.9766	9	.	.	.	.	13.1572	0.59524	0.0:0.4434:0.5566:0.0	.	710	P98073	ENTK_HUMAN	K	710	ENSP00000284885:Q710K	.	Q	-	1	0	TMPRSS15	18607170	0.958000	0.32768	0.960000	0.40013	0.745000	0.42441	1.575000	0.36493	1.389000	0.46526	0.655000	0.94253	CAG		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		23	60	1	0	9.57634e-11	0.00333	1.31762e-10	23	60				
KRTAP15-1	254950	broad.mit.edu	37	21	31813044	31813044	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:31813044G>T	ENST00000334067.3	+	1	448	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	133						intermediate filament (GO:0005882)		p.Q133H(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGAATTTCCAGGCAACTTGTT	0.458																																							uc002yod.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(397-399)CAG>CAT		keratin associated protein 15-1							134.0	140.0	138.0					21																	31813044		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31813044G>T	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.399G>T	21.37:g.31813044G>T	ENSP00000334866:p.Gln133His						p.Q133H	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	399	+			133					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.399G>T	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698307	0.30142	.	.	ENSG00000186970	ENST00000334067	T	0.17213	2.29	4.72	-0.279	0.12890	.	0.000000	0.48767	D	0.000169	T	0.13157	0.0319	L	0.56396	1.775	0.09310	N	1	B	0.18610	0.029	B	0.24394	0.053	T	0.19778	-1.0295	10	0.44086	T	0.13	-1.0023	1.5122	0.02498	0.1541:0.1434:0.4076:0.2949	.	133	Q3LI76	KR151_HUMAN	H	133	ENSP00000334866:Q133H	ENSP00000334866:Q133H	Q	+	3	2	KRTAP15-1	30734915	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.272000	0.08560	-0.052000	0.13311	-1.344000	0.01245	CAG		0.458	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			34	88	1	0	9.8876e-21	0.004878	1.54168e-20	34	88				
IL10RB	3588	broad.mit.edu	37	21	34640770	34640770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:34640770G>T	ENST00000290200.2	+	2	229	c.121G>T	c.(121-123)Gag>Tag	p.E41*	AP000295.9_ENST00000433395.2_Silent_p.G168G|IL10RB-AS1_ENST00000411998.1_RNA	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	41	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E41*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TCTACAGTGGGAGTCACCTGC	0.458																																					Melanoma(67;315 1275 21667 21943 44564)	Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(121-123)GAG>TAG		interleukin 10 receptor, beta precursor							99.0	90.0	93.0					21																	34640770		2203	4300	6503	SO:0001587	stop_gained	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34640770G>T	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.121G>T	21.37:g.34640770G>T	ENSP00000290200:p.Glu41*					IL10RB_uc002yrh.1_Nonsense_Mutation_p.E111*|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Nonsense_Mutation_p.E43*	p.E41*	NM_000628	NP_000619	Q08334	I10R2_HUMAN			2	220	+			41			Extracellular (Potential).		Q9BUU4	Nonsense_Mutation	SNP	ENST00000290200.2	37	c.121G>T	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215019	0.79352	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	.	.	.	5.35	2.58	0.30949	.	0.359901	0.27076	N	0.021055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-6.7785	7.2139	0.25949	0.278:0.0:0.722:0.0	.	.	.	.	X	41	.	ENSP00000290200:E41X	E	+	1	0	IL10RB	33562640	1.000000	0.71417	0.548000	0.28192	0.915000	0.54546	2.072000	0.41510	0.257000	0.21650	-0.140000	0.14226	GAG		0.458	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			13	53	1	0	5.50884e-06	0.001368	6.51169e-06	13	53				
DYRK1A	1859	broad.mit.edu	37	21	38853123	38853123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:38853123G>T	ENST00000398960.2	+	4	586	c.511G>T	c.(511-513)Gga>Tga	p.G171*	DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000339659.4_Nonsense_Mutation_p.G162*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.G171*	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.G171*(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGGTTCCTTTGGACAGGTAAT	0.333																																					Melanoma(114;464 1602 31203 43785 45765)	Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(511-513)GGA>TGA		dual-specificity tyrosine-(Y)-phosphorylation							82.0	85.0	84.0					21																	38853123		2203	4300	6503	SO:0001587	stop_gained	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38853123G>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.511G>T	21.37:g.38853123G>T	ENSP00000381932:p.Gly171*					DYRK1A_uc002ywh.1_Nonsense_Mutation_p.G133*|DYRK1A_uc002ywi.2_Nonsense_Mutation_p.G171*|DYRK1A_uc002ywj.2_Nonsense_Mutation_p.G162*|DYRK1A_uc002ywl.2_Nonsense_Mutation_p.G171*|DYRK1A_uc002ywm.2_Nonsense_Mutation_p.G171*	p.G171*	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			4	586	+			171			ATP (By similarity).|Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Nonsense_Mutation	SNP	ENST00000398960.2	37	c.511G>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	49	15.210158	0.99826	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1981	0.93698	0.0:0.0:1.0:0.0	.	.	.	.	X	171;162;171;171;171;171	.	ENSP00000319032:G171X	G	+	1	0	DYRK1A	37774993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.803000	0.99136	2.615000	0.88500	0.655000	0.94253	GGA		0.333	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		15	42	1	0	1.99824e-07	0.00499	2.46017e-07	15	42				
TRPM2	7226	broad.mit.edu	37	21	45833845	45833845	+	Missense_Mutation	SNP	G	G	T	rs377179828		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:45833845G>T	ENST00000397928.1	+	20	3479	c.3034G>T	c.(3034-3036)Gac>Tac	p.D1012Y	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.D1012Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1012Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.D992Y|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1012					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.D1012Y(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGAGAGCGACGCGACGCA	0.627																																							uc002zet.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3034-3036)GAC>TAC		transient receptor potential cation channel,							220.0	222.0	221.0					21																	45833845		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833845G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3034G>T	21.37:g.45833845G>T	ENSP00000381023:p.Asp1012Tyr					TRPM2_uc002zeu.1_Missense_Mutation_p.D1012Y|TRPM2_uc002zew.1_Missense_Mutation_p.D1012Y|TRPM2_uc010gpt.1_Missense_Mutation_p.D1012Y|TRPM2_uc002zex.1_Missense_Mutation_p.D798Y|TRPM2_uc002zey.1_Missense_Mutation_p.D525Y	p.D1012Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN			21	3247	+			1012			Extracellular (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3034G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893590	0.33442	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.71	3.57	0.40892	Ion transport (1);	0.327498	0.29940	N	0.010808	T	0.74794	0.3763	M	0.72894	2.215	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.983;0.983	T	0.64905	-0.6297	10	0.72032	D	0.01	-35.0396	3.8753	0.09054	0.3375:0.0:0.6625:0.0	.	1012;798;1012	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Y	1012;1012;992;1012	ENSP00000300482:D1012Y;ENSP00000381023:D1012Y;ENSP00000300481:D992Y;ENSP00000381026:D1012Y	ENSP00000300481:D992Y	D	+	1	0	TRPM2	44658273	0.992000	0.36948	0.016000	0.15963	0.070000	0.16714	3.945000	0.56637	2.337000	0.79520	0.591000	0.81541	GAC		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		45	324	1	0	2.76378e-25	0.00361	4.4711e-25	45	324				
COL6A1	1291	broad.mit.edu	37	21	47421898	47421898	+	Silent	SNP	G	G	A	rs370780432		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:47421898G>A	ENST00000361866.3	+	31	2094	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.A660A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCGTACGCGGGTGTGGTGC	0.652																																							uc002zhu.1		NA																	2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(1)	1						c.(1978-1980)GCG>GCA		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)	G		1,4405		0,1,2202	40.0	38.0	39.0		1980	-9.3	0.0	21		39	0,8600		0,0,4300	no	coding-synonymous	COL6A1	NM_001848.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		660/1029	47421898	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421898G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1980G>A	21.37:g.47421898G>A						COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'UTR|COL6A1_uc002zhw.1_5'Flank	p.A660A	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	31	2082	+	all_hematologic(128;0.24)		660			VWFA 2.|C-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1980G>A	CCDS13727.1																																																																																				0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		3	19	0	0	0	0.000602	0	3	19				
KLHL22	84861	broad.mit.edu	37	22	20819222	20819222	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:20819222C>A	ENST00000328879.4	-	4	1191	c.1035G>T	c.(1033-1035)gcG>gcT	p.A345A	KLHL22_ENST00000440659.2_Silent_p.A202A	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	345					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.A345A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTTGAGCACCGCGATGCCCT	0.567																																							uc002zsl.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1033-1035)GCG>GCT		kelch-like							101.0	93.0	96.0					22																	20819222		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819222C>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1035G>T	22.37:g.20819222C>A						KLHL22_uc011ahr.1_Silent_p.A202A|KLHL22_uc002zsm.1_Silent_p.A345A	p.A345A	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1144	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	345			Kelch 1.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1035G>T	CCDS13780.1																																																																																				0.567	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		42	143	1	0	5.34276e-22	0.00361	8.44155e-22	42	143				
SMTN	6525	broad.mit.edu	37	22	31484883	31484883	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:31484883C>T	ENST00000347557.2	+	6	617	c.399C>T	c.(397-399)taC>taT	p.Y133Y	SMTN_ENST00000333137.7_Silent_p.Y133Y|SMTN_ENST00000358743.1_Silent_p.Y133Y	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	133					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.Y133Y(2)|p.Y125Y(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGAGGTTGTACAGCGGGCGTC	0.632											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ajl.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(397-399)TAC>TAT		smoothelin isoform c							98.0	87.0	91.0					22																	31484883		2203	4300	6503	SO:0001819	synonymous_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484883C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.399C>T	22.37:g.31484883C>T			OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	825	SMTN_uc003ajk.1_Silent_p.Y133Y|SMTN_uc003ajm.1_Silent_p.Y133Y|SMTN_uc011ale.1_Silent_p.Y187Y|SMTN_uc011alf.1_Silent_p.Y189Y|SMTN_uc003ajn.1_Silent_p.Y125Y|SMTN_uc011alg.1_5'Flank	p.Y133Y	NM_006932	NP_008863	P53814	SMTN_HUMAN			6	617	+			133					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	37	c.399C>T	CCDS13886.1																																																																																				0.632	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		9	35	0	0	0	0.000978	0	9	35				
SYN3	8224	broad.mit.edu	37	22	33260911	33260911	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:33260911A>G	ENST00000358763.2	-	6	944	c.702T>C	c.(700-702)caT>caC	p.H234H	SYN3_ENST00000332840.5_Silent_p.H234H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	234	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.H234H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCATTGGCTTATGGTTGGGGA	0.463																																							uc003amx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(700-702)CAT>CAC		synapsin III isoform IIIa							213.0	214.0	214.0					22																	33260911		2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33260911A>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.702T>C	22.37:g.33260911A>G						SYN3_uc003amy.2_Silent_p.H234H|SYN3_uc003amz.2_Silent_p.H233H	p.H234H	NM_003490	NP_003481	O14994	SYN3_HUMAN			5	861	-			234			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.702T>C	CCDS13908.1																																																																																				0.463	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			50	224	0	0	0	0.00361	0	50	224				
HMOX1	3162	broad.mit.edu	37	22	35779116	35779116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:35779116C>A	ENST00000216117.8	+	2	380	c.41C>A	c.(40-42)tCa>tAa	p.S14*		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	14					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.S14*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	CAGGATTTGTCAGAGGCCCTG	0.592																																							uc003ant.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(40-42)TCA>TAA		heme oxygenase (decyclizing) 1	NADH(DB00157)						81.0	75.0	77.0					22																	35779116		2203	4300	6503	SO:0001587	stop_gained	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35779116C>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.41C>A	22.37:g.35779116C>A	ENSP00000216117:p.Ser14*						p.S14*	NM_002133	NP_002124	P09601	HMOX1_HUMAN			2	121	+			14						Nonsense_Mutation	SNP	ENST00000216117.8	37	c.41C>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	C	41	8.825242	0.98968	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.932	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000216117:S14X	S	+	2	0	HMOX1	34109116	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.724000	0.84798	2.882000	0.98803	0.655000	0.94253	TCA		0.592	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			11	68	1	0	0.00010058	0.001368	0.000114465	11	68				
CSF2RB	1439	broad.mit.edu	37	22	37326508	37326508	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:37326508C>A	ENST00000403662.3	+	7	1032	c.810C>A	c.(808-810)agC>agA	p.S270R	CSF2RB_ENST00000262825.5_Missense_Mutation_p.S270R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.S270R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S211R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	270					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S270R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGTGGCCAGCTCGGTCTCCT	0.617																																							uc003aqa.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(808-810)AGC>AGA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						109.0	105.0	106.0					22																	37326508		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326508C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.810C>A	22.37:g.37326508C>A	ENSP00000384053:p.Ser270Arg					CSF2RB_uc003aqc.3_Missense_Mutation_p.S270R	p.S270R	NM_000395	NP_000386	P32927	IL3RB_HUMAN			7	1027	+			270			Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.810C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	9.183	1.024154	0.19433	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	4.73	3.71	0.42584	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.212180	0.05863	N	0.623414	T	0.70842	0.3270	M	0.63428	1.95	0.24542	N	0.994068	D;D	0.65815	0.995;0.995	P;P	0.58077	0.726;0.832	T	0.52155	-0.8613	10	0.20519	T	0.43	-1.6542	7.7848	0.29085	0.0:0.8052:0.0:0.1948	.	270;270	P32927-2;P32927	.;IL3RB_HUMAN	R	270;270;270;270;190;211	ENSP00000384053:S270R;ENSP00000262825:S270R;ENSP00000385271:S270R;ENSP00000393585:S190R;ENSP00000440003:S211R	ENSP00000262825:S270R	S	+	3	2	CSF2RB	35656454	0.679000	0.27596	0.149000	0.22428	0.030000	0.12068	0.901000	0.28445	1.104000	0.41587	0.313000	0.20887	AGC		0.617	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		6	160	1	0	0.00198382	0.001984	0.00213469	6	160				
TAB1	10454	broad.mit.edu	37	22	39822870	39822870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:39822870G>T	ENST00000216160.6	+	9	1146	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	TAB1_ENST00000331454.3_Missense_Mutation_p.V362L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	362	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.V362L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GACCCTGCTAGTGAGGAACTT	0.662																																							uc003axt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1084-1086)GTG>TTG		mitogen-activated protein kinase kinase kinase 7							79.0	71.0	73.0					22																	39822870		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.chr22:39822870G>T	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.1084G>T	22.37:g.39822870G>T	ENSP00000216160:p.Val362Leu					TAB1_uc003axr.2_Missense_Mutation_p.V438L|TAB1_uc011aok.1_Missense_Mutation_p.V196L|TAB1_uc003axu.1_Missense_Mutation_p.V362L	p.V362L	NM_006116	NP_006107	Q15750	TAB1_HUMAN			9	1133	+			362			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1084G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346527	0.61073	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	Protein phosphatase 2C-like (3);	0.064966	0.64402	D	0.000009	T	0.13243	0.0321	L	0.37850	1.14	0.54753	D	0.999981	P;B;P	0.38745	0.645;0.128;0.606	B;B;B	0.35770	0.21;0.011;0.081	T	0.09058	-1.0692	10	0.22109	T	0.4	-22.5493	19.2828	0.94058	0.0:0.0:1.0:0.0	.	362;362;506	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	L	362	ENSP00000216160:V362L;ENSP00000333049:V362L	ENSP00000216160:V362L	V	+	1	0	TAB1	38152816	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.848000	0.75409	2.555000	0.86185	0.467000	0.42956	GTG		0.662	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		4	107	1	0	1.024e-07	0.000602	1.27899e-07	4	107				
ENTHD1	150350	broad.mit.edu	37	22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:40283548G>A	ENST00000325157.6	-	2	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.R69C(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403																																							uc003ayg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(205-207)CGC>TGC		ENTH domain containing 1							171.0	170.0	170.0					22																	40283548		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283548G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.205C>T	22.37:g.40283548G>A	ENSP00000317431:p.Arg69Cys						p.R69C	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	456	-	Melanoma(58;0.0749)		69			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.205C>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620476	0.66787	.	.	ENSG00000176177	ENST00000325157	T	0.54866	0.55	5.42	4.41	0.53225	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.076064	0.56097	D	0.000035	T	0.81138	0.4760	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84210	0.0455	10	0.87932	D	0	-9.1805	7.7359	0.28815	0.0821:0.0:0.6516:0.2662	.	69	Q8IYW4	ENTD1_HUMAN	C	69	ENSP00000317431:R69C	ENSP00000317431:R69C	R	-	1	0	ENTHD1	38613494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.025000	0.41059	1.416000	0.47057	0.655000	0.94253	CGC		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		6	248	0	0	0	0.001984	0	6	248				
PKDREJ	10343	broad.mit.edu	37	22	46656286	46656286	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:46656286C>T	ENST00000253255.5	-	1	2933	c.2934G>A	c.(2932-2934)ttG>ttA	p.L978L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	978					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L978L(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCGTCTTCTTCAAGGACCCAT	0.483																																							uc003bhh.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)	5						c.(2932-2934)TTG>TTA		receptor for egg jelly-like protein precursor							145.0	142.0	143.0					22																	46656286		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656286C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2934G>A	22.37:g.46656286C>T							p.L978L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2934	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	978			Extracellular (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.2934G>A	CCDS14073.1																																																																																				0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		40	134	0	0	0	0.00623	0	40	134				
GTSE1	51512	broad.mit.edu	37	22	46708079	46708079	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:46708079C>T	ENST00000454366.1	+	5	1016	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.I268I(1)|p.I249I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGACAAAAATCCCAGCTGAGA	0.512																																					GBM(153;542 1915 12487 29016 50495)	GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(802-804)ATC>ATT		G-2 and S-phase expressed 1							60.0	64.0	62.0					22																	46708079		2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46708079C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.804C>T	22.37:g.46708079C>T						GTSE1_uc011aqz.1_Silent_p.I115I	p.I268I	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	5	1016	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	249					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.804C>T	CCDS14074.2																																																																																				0.512	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		12	37	0	0	0	0.001368	0	12	37				
BRPF1	7862	broad.mit.edu	37	3	9788023	9788023	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:9788023C>T	ENST00000457855.1	+	12	3357	c.3346C>T	c.(3346-3348)Cat>Tat	p.H1116Y	BRPF1_ENST00000302054.3_Missense_Mutation_p.H1116Y|BRPF1_ENST00000424362.1_Missense_Mutation_p.H1115Y|BRPF1_ENST00000383829.2_Missense_Mutation_p.H1122Y|BRPF1_ENST00000433861.2_Missense_Mutation_p.H1021Y			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1116	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H1122Y(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TATGTTCCACCATGGGGTTCC	0.527																																							uc003bse.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3346-3348)CAT>TAT		bromodomain and PHD finger-containing protein 1							98.0	98.0	98.0					3																	9788023		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788023C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3346C>T	3.37:g.9788023C>T	ENSP00000410210:p.His1116Tyr					BRPF1_uc003bsf.2_Missense_Mutation_p.H1122Y|BRPF1_uc003bsg.2_Missense_Mutation_p.H1115Y|BRPF1_uc011ati.1_Missense_Mutation_p.H1021Y	p.H1116Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN			13	3745	+	Medulloblastoma(99;0.227)		1116			PWWP.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3346C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582707	0.46006	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.06	5.16	0.70880	PWWP (3);	0.057384	0.64402	D	0.000001	T	0.17492	0.0420	N	0.22421	0.69	0.44523	D	0.997471	P;P;P;P	0.36354	0.493;0.493;0.493;0.549	B;B;B;B	0.35413	0.089;0.128;0.128;0.202	T	0.02901	-1.1096	10	0.72032	D	0.01	.	16.5097	0.84281	0.1318:0.8681:0.0:0.0	.	1021;1115;1122;1116	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Y	1021;1115;1122;1116;1116	ENSP00000402485:H1021Y;ENSP00000398863:H1115Y;ENSP00000373340:H1122Y;ENSP00000306297:H1116Y;ENSP00000410210:H1116Y	ENSP00000306297:H1116Y	H	+	1	0	BRPF1	9763023	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.785000	0.62418	1.510000	0.48803	0.655000	0.94253	CAT		0.527	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		33	116	0	0	0	0.003755	0	33	116				
HDAC11	79885	broad.mit.edu	37	3	13545601	13545601	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:13545601C>G	ENST00000295757.3	+	9	840	c.657C>G	c.(655-657)atC>atG	p.I219M	HDAC11_ENST00000522202.1_Missense_Mutation_p.I168M|HDAC11_ENST00000404040.1_Missense_Mutation_p.I119M|HDAC11_ENST00000437379.2_Missense_Mutation_p.I191M|HDAC11_ENST00000446613.2_Missense_Mutation_p.I27M|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.S87*|HDAC11_ENST00000433119.1_Nonsense_Mutation_p.S177*|HDAC11_ENST00000402271.1_Missense_Mutation_p.I140M|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.S59*|HDAC11_ENST00000402259.1_Missense_Mutation_p.I53M	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	219	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.I219M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						cagagGCCATCAGGCGGAAGG	0.547																																							uc003bxy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)ATC>ATG		histone deacetylase 11 isoform 1							65.0	62.0	63.0					3																	13545601		2202	4300	6502	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	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)|transcription factor binding	g.chr3:13545601C>G	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.657C>G	3.37:g.13545601C>G	ENSP00000295757:p.Ile219Met					HDAC11_uc010heb.2_Nonsense_Mutation_p.S177*|HDAC11_uc011aux.1_Missense_Mutation_p.I27M|HDAC11_uc011auy.1_Missense_Mutation_p.I168M	p.I219M	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN			9	790	+			219			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.657C>G	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.344189|4.344189	0.82022|0.82022	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000404548;ENST00000405025	T;T;T;T;T;T;T;T|.	0.78003|.	-0.42;-0.42;-0.42;-0.42;-0.42;-1.14;-0.42;-0.42|.	5.65|5.65	3.68|3.68	0.42216|0.42216	Histone deacetylase domain (2);|.	0.047954|.	0.85682|.	D|.	0.000000|.	T|.	0.71484|.	0.3345|.	M|M	0.72118|0.72118	2.19|2.19	0.47905|0.47905	D|D	0.999544|0.999544	D;D|.	0.76494|.	0.995;0.999|.	D;D|.	0.73380|.	0.967;0.98|.	T|.	0.74290|.	-0.3713|.	10|.	0.87932|0.87932	D|D	0|0	-0.0049|-0.0049	11.2268|11.2268	0.48888|0.48888	0.2635:0.7365:0.0:0.0|0.2635:0.7365:0.0:0.0	.|.	168;219|.	B4DDK1;Q96DB2|.	.;HDA11_HUMAN|.	M|X	219;53;140;27;119;191;168;191|177;87;59	ENSP00000295757:I219M;ENSP00000384706:I53M;ENSP00000384123:I140M;ENSP00000401487:I27M;ENSP00000385475:I119M;ENSP00000385252:I191M;ENSP00000429794:I168M;ENSP00000395188:I191M|.	ENSP00000295757:I219M|ENSP00000385528:S87X	I|S	+|+	3|2	3|0	HDAC11|HDAC11	13520601|13520601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	0.891000|0.891000	0.28309|0.28309	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	ATC|TCA		0.547	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		3	19	0	0	0	0.009096	0	3	19				
DCLK3	85443	broad.mit.edu	37	3	36763072	36763072	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:36763072A>G	ENST00000416516.2	-	3	2021	c.1531T>C	c.(1531-1533)Ttt>Ctt	p.F511L	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F511L(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						CACACAGTAAATATAGGTCTC	0.428																																							uc003cgi.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1531-1533)TTT>CTT		doublecortin-like kinase 3							137.0	134.0	135.0					3																	36763072		1914	4124	6038	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36763072A>G	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.1531T>C	3.37:g.36763072A>G	ENSP00000394484:p.Phe511Leu						p.F511L	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			3	2022	-			511			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1531T>C	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	A	35	5.596156	0.96602	.	.	ENSG00000163673	ENST00000416516	T	0.64438	-0.1	5.6	5.6	0.85130	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	0.33477	N	0.004878	T	0.64472	0.2601	N	0.12961	0.28	0.58432	D	0.999994	D	0.67145	0.996	D	0.65443	0.935	T	0.69343	-0.5170	10	0.52906	T	0.07	.	16.089	0.81080	1.0:0.0:0.0:0.0	.	511	Q9C098	DCLK3_HUMAN	L	511	ENSP00000394484:F511L	ENSP00000394484:F511L	F	-	1	0	DCLK3	36738076	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.962000	0.93254	2.270000	0.75569	0.459000	0.35465	TTT		0.428	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		5	126	0	0	0	0.000602	0	5	126				
SLC22A13	9390	broad.mit.edu	37	3	38307398	38307398	+	Missense_Mutation	SNP	G	G	C	rs72542450	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:38307398G>C	ENST00000311856.4	+	1	96	c.47G>C	c.(46-48)cGc>cCc	p.R16P	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	16					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.R16P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GACTTTGGTCGCTTCCAGATA	0.507																																							uc003chz.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)CGC>CCC		solute carrier family 22 (organic anion							192.0	159.0	170.0					3																	38307398		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307398G>C	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.47G>C	3.37:g.38307398G>C	ENSP00000310241:p.Arg16Pro					SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.R16P	p.R16P	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	101	+			16			Cytoplasmic (Potential).		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.47G>C	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.557823	0.45590	.	.	ENSG00000172940	ENST00000311856	T	0.67523	-0.27	4.71	1.59	0.23543	Major facilitator superfamily domain, general substrate transporter (1);	0.491995	0.21278	N	0.077196	T	0.44953	0.1318	N	0.25890	0.77	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.18263	0.021;0.009	T	0.11941	-1.0567	10	0.17369	T	0.5	.	4.5859	0.12282	0.1614:0.1506:0.5769:0.1111	.	16;16	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	P	16	ENSP00000310241:R16P	ENSP00000310241:R16P	R	+	2	0	SLC22A13	38282402	0.000000	0.05858	1.000000	0.80357	0.662000	0.39071	-0.267000	0.08619	0.551000	0.29008	-0.251000	0.11542	CGC		0.507	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		5	79	0	0	0	0.000602	0	5	79				
CCR8	1237	broad.mit.edu	37	3	39374243	39374244	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:39374243_39374244GC>AA	ENST00000326306.4	+	2	559_560	c.421_422GC>AA	c.(421-423)GCc>AAc	p.A141N	CCR8_ENST00000545843.1_Missense_Mutation_p.A58N|CCR8_ENST00000414803.1_Nonsense_Mutation_p.C83*	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	141					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.A141N(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCCGTGTATGCCCTAAAGGTG	0.5																																							uc010hhr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(421-423)GCC>AAC		chemokine (C-C motif) receptor 8																																				SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374243_39374244GC>AA	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	Exception_encountered	3.37:g.39374243_39374244delinsAA	ENSP00000326432:p.Ala141Asn					CCR8_uc003cjm.2_Missense_Mutation_p.A58N	p.A141N	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	559_560	+			141			Cytoplasmic (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	DNP	ENST00000326306.4	37	c.421_422GC>AA	CCDS2684.1																																																																																				0.500	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		37	251	0	0	0	0.004672	0	37	251				
ZNF501	115560	broad.mit.edu	37	3	44776034	44776034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:44776034C>T	ENST00000396048.2	+	3	558	c.121C>T	c.(121-123)Cag>Tag	p.Q41*		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	41					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.Q41*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TACCCAGCACCAGAGGATTCA	0.423																																							uc003cnu.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(121-123)CAG>TAG		zinc finger protein 501							90.0	99.0	96.0					3																	44776034		2172	4290	6462	SO:0001587	stop_gained	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776034C>T	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.121C>T	3.37:g.44776034C>T	ENSP00000379363:p.Gln41*					ZNF501_uc003cnv.1_Nonsense_Mutation_p.Q41*	p.Q41*	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	522	+			41			C2H2-type 1.		B4DLY7|Q96NU9	Nonsense_Mutation	SNP	ENST00000396048.2	37	c.121C>T	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	32	5.190963	0.94923	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	.	.	.	2.4	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.5952	0.56465	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000330388:Q41X	Q	+	1	0	ZNF501	44751038	0.000000	0.05858	0.976000	0.42696	0.937000	0.57800	0.312000	0.19397	1.655000	0.50712	0.563000	0.77884	CAG		0.423	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		11	61	0	0	0	0.000978	0	11	61				
TGM4	7047	broad.mit.edu	37	3	44951615	44951615	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:44951615C>T	ENST00000296125.4	+	11	1429	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	454					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A454V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGGATCATGCCTTCCTCCTT	0.507																																							uc003coc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1360-1362)GCC>GTC		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						56.0	57.0	57.0					3																	44951615		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951615C>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1361C>T	3.37:g.44951615C>T	ENSP00000296125:p.Ala454Val						p.A454V	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1434	+			454					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1361C>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865233	0.51482	.	.	ENSG00000163810	ENST00000296125	T	0.56776	0.44	2.6	1.69	0.24217	.	0.000000	0.44285	U	0.000470	T	0.72326	0.3446	M	0.91406	3.205	0.09310	N	0.999997	D	0.76494	0.999	D	0.72338	0.977	T	0.62329	-0.6877	10	0.87932	D	0	.	6.8241	0.23872	0.0:0.8478:0.0:0.1522	.	454	P49221	TGM4_HUMAN	V	454	ENSP00000296125:A454V	ENSP00000296125:A454V	A	+	2	0	TGM4	44926619	0.030000	0.19436	0.001000	0.08648	0.147000	0.21601	1.980000	0.40618	0.362000	0.24319	0.467000	0.42956	GCC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		9	40	0	0	0	0.006214	0	9	40				
PTH1R	5745	broad.mit.edu	37	3	46945140	46945140	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:46945140C>A	ENST00000313049.5	+	14	1979	c.1776C>A	c.(1774-1776)gtC>gtA	p.V592V	PTH1R_ENST00000430002.2_Silent_p.V592V|PTH1R_ENST00000449590.1_Silent_p.V592V|PTH1R_ENST00000418619.1_Silent_p.V592V			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	592					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|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 cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|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)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.V592V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGGAGACAGTCATGTGACCAG	0.612																																							uc003cqm.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1774-1776)GTC>GTA		parathyroid hormone receptor 1 precursor							66.0	76.0	73.0					3																	46945140		2203	4299	6502	SO:0001819	synonymous_variant	5745	Ollier_disease_/_Maffucsyndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46945140C>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1776C>A	3.37:g.46945140C>A						PTH1R_uc003cqn.2_Silent_p.V592V	p.V592V	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			16	1979	+			592			Cytoplasmic (Potential).		Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.1776C>A	CCDS2747.1																																																																																				0.612	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		22	107	1	0	3.6726e-16	0.003954	5.47426e-16	22	107				
QARS	5859	broad.mit.edu	37	3	49138082	49138082	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:49138082C>T	ENST00000306125.6	-	11	1239	c.902G>A	c.(901-903)cGt>cAt	p.R301H	QARS_ENST00000414533.1_Missense_Mutation_p.R290H|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_3'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	301					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.R301H(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTCATCAAAACGCAGAAAACA	0.478																																							uc003cvx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)CGT>CAT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						138.0	134.0	135.0					3																	49138082		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49138082C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.902G>A	3.37:g.49138082C>T	ENSP00000307567:p.Arg301His					QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R156H|QARS_uc003cvy.2_Missense_Mutation_p.R156H|QARS_uc011bce.1_Missense_Mutation_p.R290H|QARS_uc011bcf.1_3'UTR	p.R301H	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	907	-			301					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.902G>A	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079330	0.94050	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.61859	0.07;0.07	5.71	5.71	0.89125	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.090781	0.85682	D	0.000000	D	0.88062	0.6336	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93183	0.6576	10	0.87932	D	0	-17.3672	19.4579	0.94903	0.0:1.0:0.0:0.0	.	290;301	B4DWJ2;P47897	.;SYQ_HUMAN	H	301;290	ENSP00000307567:R301H;ENSP00000390015:R290H	ENSP00000307567:R301H	R	-	2	0	QARS	49113086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.261000	0.78400	2.699000	0.92147	0.650000	0.86243	CGT		0.478	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		4	101	0	0	0	0.009096	0	4	101				
NISCH	11188	broad.mit.edu	37	3	52505828	52505828	+	Splice_Site	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:52505828A>G	ENST00000479054.1	+	6	481		c.e6-1		NISCH_ENST00000345716.4_Splice_Site|NISCH_ENST00000488380.1_Splice_Site|NISCH_ENST00000420808.2_Splice_Site			Q9Y2I1	NISCH_HUMAN	nischarin						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGGCTCTTGCAGGAGAACAGC	0.617																																							uc011beg.1		NA																	1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.e6-2		nischarin							35.0	40.0	38.0					3																	52505828		2203	4300	6503	SO:0001630	splice_region_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52505828A>G	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.410-1A>G	3.37:g.52505828A>G						NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice	p.G137_splice	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	6	482	+								C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Splice_Site	SNP	ENST00000479054.1	37	c.410_splice	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655379	0.67586	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	.	.	.	5.35	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8462	0.41028	0.9216:0.0:0.0784:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NISCH	52480868	1.000000	0.71417	0.943000	0.38184	0.924000	0.55760	8.219000	0.89770	0.864000	0.35578	0.459000	0.35465	.		0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	Intron	8	23	0	0	0	0.006214	0	8	23				
LMOD3	56203	broad.mit.edu	37	3	69168667	69168667	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:69168667T>C	ENST00000420581.2	-	2	1018	c.839A>G	c.(838-840)aAa>aGa	p.K280R	LMOD3_ENST00000475434.1_Missense_Mutation_p.K280R|LMOD3_ENST00000489031.1_Missense_Mutation_p.K280R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	280						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K280R(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GTGCTTGTTTTTCTTCATTGC	0.388																																							uc003dns.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(838-840)AAA>AGA		leiomodin 3 (fetal)							193.0	176.0	181.0					3																	69168667		1957	4146	6103	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168667T>C	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.839A>G	3.37:g.69168667T>C	ENSP00000414670:p.Lys280Arg					LMOD3_uc003dnt.2_Missense_Mutation_p.K280R	p.K280R	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1048	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	280					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.839A>G	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924329	0.34002	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91792	-2.91;-2.91;-2.91	5.69	5.69	0.88448	.	0.042079	0.85682	D	0.000000	D	0.87257	0.6132	L	0.28458	0.855	0.58432	D	0.999996	B	0.28998	0.23	B	0.32149	0.141	D	0.83954	0.0318	10	0.14252	T	0.57	-46.7885	15.9592	0.79914	0.0:0.0:0.0:1.0	.	280	Q0VAK6	LMOD3_HUMAN	R	280	ENSP00000414670:K280R;ENSP00000417210:K280R;ENSP00000418645:K280R	ENSP00000414670:K280R	K	-	2	0	LMOD3	69251357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.054000	0.64275	2.180000	0.69256	0.482000	0.46254	AAA		0.388	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		21	127	0	0	0	0.001882	0	21	127				
POU1F1	5449	broad.mit.edu	37	3	87325585	87325585	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:87325585C>A	ENST00000350375.2	-	1	152	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	POU1F1_ENST00000344265.3_Missense_Mutation_p.D10Y|POU1F1_ENST00000560656.1_Missense_Mutation_p.D10Y	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	10					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D10Y(2)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATAAAGGTATCAGCCGAAGTA	0.448																																							uc003dqq.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(28-30)GAT>TAT		pituitary specific transcription factor 1							98.0	99.0	99.0					3																	87325585		2203	4300	6503	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325585C>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.28G>T	3.37:g.87325585C>A	ENSP00000263781:p.Asp10Tyr					POU1F1_uc010hoj.1_Missense_Mutation_p.D10Y	p.D10Y	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	153	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	10					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.28G>T	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886512	0.72410	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	T;T	0.70631	-0.5;-0.5	5.16	5.16	0.70880	.	2.001890	0.01814	N	0.033627	D	0.86364	0.5915	M	0.71581	2.175	0.58432	D	0.999999	P;B	0.50066	0.931;0.002	P;B	0.61533	0.89;0.003	T	0.72144	-0.4379	10	0.87932	D	0	.	19.0089	0.92865	0.0:1.0:0.0:0.0	.	10;10	P28069-2;P28069	.;PIT1_HUMAN	Y	10	ENSP00000263781:D10Y;ENSP00000342931:D10Y	ENSP00000342931:D10Y	D	-	1	0	POU1F1	87408275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.634000	0.67833	2.559000	0.86315	0.591000	0.81541	GAT		0.448	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		10	56	1	0	1.76689e-08	0.006214	2.2666e-08	10	56				
C3orf38	285237	broad.mit.edu	37	3	88202561	88202561	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:88202561G>A	ENST00000318887.3	+	2	625	c.315G>A	c.(313-315)ctG>ctA	p.L105L	C3orf38_ENST00000486971.1_Silent_p.L105L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	105					apoptotic process (GO:0006915)			p.L103L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AACCACAACTGAAATTGAAGG	0.383																																							uc003dqw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTG>CTA		hypothetical protein LOC285237							87.0	87.0	87.0					3																	88202561		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88202561G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.315G>A	3.37:g.88202561G>A							p.L105L	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	626	+		Lung NSC(201;0.17)	105					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.315G>A	CCDS2921.2																																																																																				0.383	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		62	90	0	0	0	0.00361	0	62	90				
EPHA6	285220	broad.mit.edu	37	3	96963115	96963115	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:96963115G>T	ENST00000389672.5	+	5	1628	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	EPHA6_ENST00000470610.2_Silent_p.V530V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	436	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.V436V(3)|p.V530V(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						CTATTACAGTGACCACGGATC	0.388																																							uc010how.1		NA																	4	Substitution - coding silent(4)	p.V436V(1)	lung(4)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1588-1590)GTG>GTT		EPH receptor A6 isoform a							104.0	98.0	100.0					3																	96963115		1881	4118	5999	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96963115G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1590G>T	3.37:g.96963115G>T						EPHA6_uc003drp.1_Silent_p.V530V	p.V530V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			5	1633	+			435			Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.1590G>T	CCDS46876.1																																																																																				0.388	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		8	64	1	0	9.70103e-10	0.008291	1.30079e-09	8	64				
OR5H14	403273	broad.mit.edu	37	3	97868307	97868308	+	Silent	DNP	CC	CC	AT	rs146669592		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:97868307_97868308CC>AT	ENST00000437310.1	+	1	138_139	c.78_79CC>AT	c.(76-81)ccCCtg>ccATtg	p.26_27PL>PL	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.(=)(1)|p.L27M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAAATACCCCTGTTCCTGGC	0.416																																							uc003dsg.1		NA																	2	Substitution - Missense(1)|Unknown(1)		lung(2)	skin(1)	1						c.(76-81)CCCCTG>CCATTG		olfactory receptor, family 5, subfamily H,																																				SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868307_97868308CC>AT		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	Exception_encountered	3.37:g.97868307_97868308delinsAT							p.26_27PL>PL	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	78_79	+			26_27			Extracellular (Potential).		B9EH15	Silent	DNP	ENST00000437310.1	37	c.78_79CC>AT	CCDS33798.1																																																																																				0.416	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			43	270	0	0	0	0.004672	0	43	270				
OR5H15	403274	broad.mit.edu	37	3	97887756	97887756	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:97887756T>C	ENST00000356526.2	+	1	213	c.213T>C	c.(211-213)gcT>gcC	p.A71A		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A71A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTGTGGATGCTTGGATATCAT	0.403																																							uc011bgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(211-213)GCT>GCC		olfactory receptor, family 5, subfamily H,							75.0	76.0	75.0					3																	97887756		2202	4278	6480	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887756T>C		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.213T>C	3.37:g.97887756T>C							p.A71A	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	213	+			71			Helical; Name=2; (Potential).			Silent	SNP	ENST00000356526.2	37	c.213T>C	CCDS33799.1																																																																																				0.403	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			39	152	0	0	0	0.00361	0	39	152				
NIT2	56954	broad.mit.edu	37	3	100058049	100058049	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:100058049G>T	ENST00000394140.4	+	2	217	c.126G>T	c.(124-126)ccG>ccT	p.P42P		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	42	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.P42P(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTTCTTTGCCGGTCAGTATGG	0.507																																							uc003dtv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(124-126)CCG>CCT		nitrilase family, member 2							103.0	103.0	103.0					3																	100058049		2203	4300	6503	SO:0001630	splice_region_variant	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058049G>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.126+1G>T	3.37:g.100058049G>T						NIT2_uc011bha.1_Silent_p.P42P	p.P42P	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			2	200	+			42			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Silent	SNP	ENST00000394140.4	37	c.126G>T	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632567	0.14322	.	.	ENSG00000114021	ENST00000497785	.	.	.	5.21	-9.1	0.00714	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0802	3.7919	0.08724	0.1512:0.1155:0.5403:0.193	.	.	.	.	X	136	.	.	G	+	1	0	NIT2	101540739	0.001000	0.12720	0.854000	0.33618	0.959000	0.62525	-2.064000	0.01387	-1.390000	0.02087	0.484000	0.47621	GGA		0.507	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Silent	17	99	1	0	9.16793e-09	0.00499	1.18248e-08	17	99				
CEP97	79598	broad.mit.edu	37	3	101446312	101446312	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:101446312G>A	ENST00000341893.3	+	3	1024	c.272G>A	c.(271-273)aGc>aAc	p.S91N	CEP97_ENST00000494050.1_Missense_Mutation_p.S91N|CEP97_ENST00000327230.4_Missense_Mutation_p.S91N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	91					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.S91N(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCTCATAATAGCATTGGCTGT	0.398																																							uc003dvk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(271-273)AGC>AAC		centrosomal protein 97kDa							175.0	174.0	174.0					3																	101446312		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101446312G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.272G>A	3.37:g.101446312G>A	ENSP00000342510:p.Ser91Asn					CEP97_uc010hpm.1_Missense_Mutation_p.S91N|CEP97_uc011bhf.1_Missense_Mutation_p.S91N|CEP97_uc003dvl.1_5'UTR	p.S91N	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			3	299	+			91			LRR 3.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.272G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374840	0.95923	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.23950	1.88;1.88;2.27	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	N	0.17800	0.525	0.80722	D	1	D;P;P	0.89917	1.0;0.851;0.64	D;P;P	0.91635	0.999;0.71;0.572	T	0.21655	-1.0239	10	0.45353	T	0.12	-12.0007	19.6961	0.96026	0.0:0.0:1.0:0.0	.	91;91;91	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	91	ENSP00000342510:S91N;ENSP00000325881:S91N;ENSP00000418185:S91N	ENSP00000325881:S91N	S	+	2	0	CEP97	102929002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.703000	0.98714	2.654000	0.90174	0.650000	0.86243	AGC		0.398	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		17	166	0	0	0	0.006122	0	17	166				
CBLB	868	broad.mit.edu	37	3	105464841	105464841	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:105464841C>A	ENST00000264122.4	-	6	1086	c.765G>T	c.(763-765)gtG>gtT	p.V255V	CBLB_ENST00000394027.3_Silent_p.V277V|CBLB_ENST00000403724.1_Silent_p.V255V|CBLB_ENST00000405772.1_Silent_p.V255V|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	255	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V255V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGATGTGTCACAGCTAAGA	0.333			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(763-765)GTG>GTT		Cas-Br-M (murine) ecotropic retroviral							115.0	121.0	119.0					3																	105464841		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105464841C>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.765G>T	3.37:g.105464841C>A						CBLB_uc011bhi.1_Silent_p.V277V|CBLB_uc003dwd.1_Silent_p.V255V|CBLB_uc003dwe.1_Silent_p.V255V|CBLB_uc011bhj.1_RNA	p.V255V	NM_170662	NP_733762	Q13191	CBLB_HUMAN			6	1087	-			255			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.765G>T	CCDS2948.1																																																																																				0.333	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		21	164	1	0	8.10497e-08	0.010504	1.01634e-07	21	164				
MORC1	27136	broad.mit.edu	37	3	108778676	108778676	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:108778676T>C	ENST00000483760.1	-	12	1051	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	MORC1_ENST00000232603.5_Silent_p.Q336Q					MORC family CW-type zinc finger 1									p.Q336Q(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAAGATTCTTTTGCTTTGCTT	0.368																																							uc003dxl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1006-1008)CAA>CAG		MORC family CW-type zinc finger 1							156.0	134.0	141.0					3																	108778676		2203	4299	6502	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778676T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1008A>G	3.37:g.108778676T>C						MORC1_uc011bhn.1_Silent_p.Q336Q	p.Q336Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			12	1095	-			336			Potential.			Silent	SNP	ENST00000483760.1	37	c.1008A>G																																																																																					0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			20	45	0	0	0	0.001882	0	20	45				
ZBTB20	26137	broad.mit.edu	37	3	114070473	114070473	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:114070473A>C	ENST00000474710.1	-	4	630	c.452T>G	c.(451-453)gTg>gGg	p.V151G	ZBTB20_ENST00000462705.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V78G|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V78G|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V78G|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V78G	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	151	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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 negative regulation of transcription (GO:0001078)	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGCTTTTGCACTGACTGCAC	0.592																																					NSCLC(69;748 1344 9802 11203 30933)	NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(451-453)GTG>GGG		zinc finger and BTB domain containing 20 isoform							88.0	77.0	80.0					3																	114070473		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070473A>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.452T>G	3.37:g.114070473A>C	ENSP00000419153:p.Val151Gly					ZBTB20_uc003ebj.2_Missense_Mutation_p.V78G|ZBTB20_uc010hqp.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebk.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebl.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebm.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebn.2_Missense_Mutation_p.V78G|uc003ebo.1_5'Flank	p.V151G	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	632	-			151			BTB.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.452T>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677140	0.68042	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.86	5.86	0.93980	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.131055	0.52532	D	0.000069	T	0.79907	0.4527	M	0.71871	2.18	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.82259	-0.0546	10	0.87932	D	0	.	16.2652	0.82574	1.0:0.0:0.0:0.0	.	151	Q9HC78	ZBT20_HUMAN	G	78;78;78;78;151;78;78	ENSP00000420324:V78G;ENSP00000377375:V78G;ENSP00000418092:V78G;ENSP00000419902:V78G;ENSP00000419153:V151G;ENSP00000349803:V78G;ENSP00000417307:V78G	ENSP00000349803:V78G	V	-	2	0	ZBTB20	115553163	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.241000	0.73720	0.528000	0.53228	GTG		0.592	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		6	49	0	0	0	0.001168	0	6	49				
GPR156	165829	broad.mit.edu	37	3	119886498	119886498	+	Missense_Mutation	SNP	C	C	A	rs376129523		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:119886498C>A	ENST00000464295.1	-	10	2271	c.1826G>T	c.(1825-1827)cGc>cTc	p.R609L	GPR156_ENST00000461057.1_Missense_Mutation_p.R605L|GPR156_ENST00000315843.3_Missense_Mutation_p.R609L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	609						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R609L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAAGTGTGAGCGGGCCCGCTG	0.602																																							uc011bjf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1825-1827)CGC>CTC		G protein-coupled receptor 156							39.0	41.0	40.0					3																	119886498		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886498C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1826G>T	3.37:g.119886498C>A	ENSP00000417261:p.Arg609Leu					GPR156_uc011bjg.1_Missense_Mutation_p.R605L	p.R609L	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1826	-			609			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1826G>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431689	0.12045	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.27256	1.68;1.68;1.68	4.98	3.21	0.36854	.	0.487086	0.20210	N	0.096931	T	0.17619	0.0423	L	0.32530	0.975	0.09310	N	0.999997	B;B	0.20887	0.049;0.049	B;B	0.17433	0.018;0.018	T	0.20075	-1.0286	9	.	.	.	-2.2097	9.2717	0.37675	0.0:0.6578:0.2459:0.0963	.	605;609	E9PFZ4;Q8NFN8	.;GP156_HUMAN	L	609;609;605	ENSP00000417261:R609L;ENSP00000324553:R609L;ENSP00000418758:R605L	.	R	-	2	0	GPR156	121369188	0.995000	0.38212	0.580000	0.28601	0.049000	0.14656	1.634000	0.37123	0.686000	0.31488	-0.244000	0.11960	CGC		0.602	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		30	60	1	0	1.61788e-16	0.002445	2.41916e-16	30	60				
CASR	846	broad.mit.edu	37	3	121980969	121980969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:121980969G>T	ENST00000490131.1	+	4	1459	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	CASR_ENST00000296154.5_Missense_Mutation_p.G363C|CASR_ENST00000498619.1_Missense_Mutation_p.G363C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	363					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.G363C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTCCAAGAAGGTGCAAAAGG	0.502																																							uc003eev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(1087-1089)GGT>TGT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						82.0	80.0	81.0					3																	121980969		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980969G>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1087G>T	3.37:g.121980969G>T	ENSP00000418685:p.Gly363Cys					CASR_uc003eew.3_Missense_Mutation_p.G363C	p.G363C	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1459	+			363			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1087G>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094959	0.36952	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89552	-2.53;-2.52;-2.53	5.93	3.89	0.44902	Extracellular ligand-binding receptor (1);	0.299918	0.41194	D	0.000924	D	0.87947	0.6306	L	0.46819	1.47	0.38818	D	0.955569	P;P	0.45126	0.828;0.851	P;P	0.49752	0.621;0.526	D	0.87203	0.2242	10	0.72032	D	0.01	.	9.0642	0.36453	0.1905:0.0:0.8095:0.0	.	363;363	E7ENE0;P41180	.;CASR_HUMAN	C	363	ENSP00000418685:G363C;ENSP00000420194:G363C;ENSP00000296154:G363C	ENSP00000296154:G363C	G	+	1	0	CASR	123463659	1.000000	0.71417	0.988000	0.46212	0.808000	0.45660	3.402000	0.52608	0.647000	0.30713	0.655000	0.94253	GGT		0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		33	49	1	0	2.48696e-23	0.003271	3.97578e-23	33	49				
ADCY5	111	broad.mit.edu	37	3	123066664	123066664	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:123066664G>C	ENST00000462833.1	-	3	2583	c.1371C>G	c.(1369-1371)ttC>ttG	p.F457L	ADCY5_ENST00000309879.5_Missense_Mutation_p.F107L|ADCY5_ENST00000491190.1_Missense_Mutation_p.F90L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	457					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F457L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAATCTTATGGAACATCATAT	0.547																																							uc003egh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1369-1371)TTC>TTG		adenylate cyclase 5							399.0	322.0	348.0					3																	123066664		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123066664G>C	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1371C>G	3.37:g.123066664G>C	ENSP00000419361:p.Phe457Leu					ADCY5_uc003egg.1_Missense_Mutation_p.F90L|ADCY5_uc003egi.1_Missense_Mutation_p.F16L	p.F457L	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	3	1371	-			457			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1371C>G	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162683	0.78226	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.85013	-1.59;-1.93;-1.86;-1.74;-1.87	5.53	3.72	0.42706	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.87547	2.89	0.58432	D	0.999999	P;P	0.41475	0.751;0.566	B;B	0.39706	0.307;0.2	D	0.85878	0.1420	10	0.72032	D	0.01	.	8.029	0.30454	0.2706:0.0:0.7294:0.0	.	457;90	O95622;B3KWA8	ADCY5_HUMAN;.	L	457;90;107;16;16	ENSP00000419361:F457L;ENSP00000418537:F90L;ENSP00000308685:F107L;ENSP00000420082:F16L;ENSP00000420252:F16L	ENSP00000308685:F107L	F	-	3	2	ADCY5	124549354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.092000	0.41700	1.326000	0.45319	0.555000	0.69702	TTC		0.547	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		36	265	0	0	0	0.004878	0	36	265				
MYLK	4638	broad.mit.edu	37	3	123456371	123456371	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:123456371G>A	ENST00000475616.1	-	5	607	c.608C>T	c.(607-609)cCg>cTg	p.P203L	MYLK_ENST00000360304.3_Missense_Mutation_p.P203L|MYLK_ENST00000360772.3_Missense_Mutation_p.P203L|MYLK_ENST00000346322.5_Missense_Mutation_p.P203L|MYLK_ENST00000359169.1_Missense_Mutation_p.P203L			Q15746	MYLK_HUMAN	myosin light chain kinase	203	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.P203L(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)		ACGGGCACTCGGCTGCAGTGG	0.542																																							uc003ego.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(607-609)CCG>CTG		myosin light chain kinase isoform 1							164.0	144.0	151.0					3																	123456371		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.chr3:123456371G>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.608C>T	3.37:g.123456371G>A	ENSP00000418335:p.Pro203Leu					MYLK_uc011bjw.1_Missense_Mutation_p.P203L|MYLK_uc003egp.2_Missense_Mutation_p.P203L|MYLK_uc003egq.2_Missense_Mutation_p.P203L|MYLK_uc003egr.2_Missense_Mutation_p.P203L|MYLK_uc003egs.2_Missense_Mutation_p.P27L|MYLK_uc010hrs.1_Missense_Mutation_p.P203L	p.P203L	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	8	890	-		Lung NSC(201;0.0496)	203			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.608C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257087	0.39896	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.01	4.13	0.48395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62780	0.2456	N	0.26162	0.8	0.80722	D	1	D;D;P;D;P;D	0.62365	0.966;0.991;0.876;0.981;0.876;0.973	P;P;B;P;B;P	0.53689	0.509;0.732;0.246;0.586;0.246;0.54	T	0.61222	-0.7106	9	0.34782	T	0.22	.	12.1941	0.54288	0.0:0.0:0.6913:0.3087	.	203;203;203;203;203;203	Q15746-6;Q15746-5;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	L	203	ENSP00000354004:P203L;ENSP00000353452:P203L;ENSP00000352088:P203L;ENSP00000320622:P203L;ENSP00000418335:P203L	ENSP00000320622:P203L	P	-	2	0	MYLK	124939061	0.999000	0.42202	0.886000	0.34754	0.318000	0.28184	3.043000	0.49823	1.317000	0.45149	-0.182000	0.12963	CCG		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		7	211	0	0	0	0.001984	0	7	211				
C3orf58	205428	broad.mit.edu	37	3	143704422	143704422	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:143704422A>G	ENST00000315691.3	+	2	1230	c.695A>G	c.(694-696)tAt>tGt	p.Y232C	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.Y23C|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	232					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.Y232C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGCAAAGTATCTTGGAGCT	0.393																																							uc003evo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(694-696)TAT>TGT		hypothetical protein LOC205428 isoform a							151.0	150.0	151.0					3																	143704422		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704422A>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.695A>G	3.37:g.143704422A>G	ENSP00000320081:p.Tyr232Cys					C3orf58_uc011bnl.1_Missense_Mutation_p.Y23C	p.Y232C	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			2	1230	+			232					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.695A>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244908	0.79912	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.38077	1.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.965;0.993	T	0.67883	-0.5555	10	0.66056	D	0.02	.	15.1527	0.72713	1.0:0.0:0.0:0.0	.	23;232	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	C	232;23;38	ENSP00000320081:Y232C	ENSP00000320081:Y232C	Y	+	2	0	C3orf58	145187112	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	8.962000	0.93254	1.992000	0.58205	0.533000	0.62120	TAT		0.393	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		11	259	0	0	0	0.000978	0	11	259				
SI	6476	broad.mit.edu	37	3	164767613	164767613	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:164767613A>T	ENST00000264382.3	-	14	1625	c.1563T>A	c.(1561-1563)aaT>aaA	p.N521K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	521	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.N521K(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)	ATTTGTTTACATTACATCCTT	0.279										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.(1561-1563)AAT>AAA		sucrase-isomaltase	Acarbose(DB00284)						90.0	101.0	97.0					3																	164767613		2202	4288	6490	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.chr3:164767613A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1563T>A	3.37:g.164767613A>T	ENSP00000264382:p.Asn521Lys	HNSCC(35;0.089)					p.N521K	NM_001041	NP_001032	P14410	SUIS_HUMAN			14	1625	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	521			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1563T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	3.280	-0.147144	0.06627	.	.	ENSG00000090402	ENST00000264382	D	0.89270	-2.49	5.58	-1.85	0.07784	Glycoside hydrolase, superfamily (1);	1.810920	0.02066	N	0.051144	T	0.77691	0.4168	N	0.16368	0.405	0.09310	N	1	B	0.21452	0.056	B	0.22152	0.038	T	0.63651	-0.6589	10	0.24483	T	0.36	.	2.241	0.04020	0.194:0.3201:0.0771:0.4088	.	521	P14410	SUIS_HUMAN	K	521	ENSP00000264382:N521K	ENSP00000264382:N521K	N	-	3	2	SI	166250307	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.905000	0.04075	0.079000	0.16929	0.477000	0.44152	AAT		0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	45	0	0	0	0.006214	0	8	45				
WDR49	151790	broad.mit.edu	37	3	167322097	167322097	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:167322097T>C	ENST00000308378.3	-	2	400	c.95A>G	c.(94-96)aAt>aGt	p.N32S	WDR49_ENST00000479765.1_Missense_Mutation_p.N373S|WDR49_ENST00000453925.2_Missense_Mutation_p.N85S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	32								p.N32S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACCAATTAAATTGAGCCGAGA	0.393																																							uc003fev.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(94-96)AAT>AGT		WD repeat domain 49							136.0	135.0	135.0					3																	167322097		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167322097T>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.95A>G	3.37:g.167322097T>C	ENSP00000311343:p.Asn32Ser					WDR49_uc011bpd.1_Missense_Mutation_p.N85S|WDR49_uc003few.1_Missense_Mutation_p.N373S	p.N32S	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			2	401	-			32			WD 1.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.95A>G	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.86|18.86	3.713124|3.713124	0.68730|0.68730	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.29655	.|1.56;1.57;2.23	5.36|5.36	5.36|5.36	0.76844|0.76844	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.213082	.|0.46442	.|D	.|0.000292	T|T	0.54647|0.54647	0.1871|0.1871	M|M	0.76938|0.76938	2.355|2.355	0.34272|0.34272	D|D	0.681146|0.681146	.|D;D;D	.|0.89917	.|0.996;0.999;1.0	.|P;D;D	.|0.71870	.|0.907;0.943;0.975	T|T	0.66991|0.66991	-0.5783|-0.5783	5|10	.|0.33940	.|T	.|0.23	.|.	14.3496|14.3496	0.66691|0.66691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|85;373;32	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	V|S	97|32;373;85	.|ENSP00000311343:N32S;ENSP00000419749:N373S;ENSP00000410863:N85S	.|ENSP00000311343:N32S	I|N	-|-	1|2	0|0	WDR49|WDR49	168804791|168804791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	3.947000|3.947000	0.56652|0.56652	2.028000|2.028000	0.59812|0.59812	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.393	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		25	73	0	0	0	0.005443	0	25	73				
GOLIM4	27333	broad.mit.edu	37	3	167728076	167728076	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:167728076T>A	ENST00000470487.1	-	16	2761	c.2072A>T	c.(2071-2073)cAt>cTt	p.H691L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H663L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	691					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H691L(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCTCTTCGATGTGATTTCTC	0.493																																							uc003ffe.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(2071-2073)CAT>CTT		golgi integral membrane protein 4							209.0	196.0	200.0					3																	167728076		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728076T>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.2072A>T	3.37:g.167728076T>A	ENSP00000417354:p.His691Leu					GOLIM4_uc011bpe.1_Missense_Mutation_p.H692L|GOLIM4_uc011bpf.1_Missense_Mutation_p.H664L|GOLIM4_uc011bpg.1_Missense_Mutation_p.H663L	p.H691L	NM_014498	NP_055313	O00461	GOLI4_HUMAN			16	2416	-			691			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.2072A>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318761	0.41096	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.27	-3.02	0.05446	.	0.862504	0.10690	N	0.645263	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B;B	0.31383	0.321;0.321	B;B	0.32980	0.156;0.156	T	0.23404	-1.0189	9	0.33141	T	0.24	-2.1096	12.6999	0.57026	0.0:0.5022:0.0:0.4978	.	663;691	F8W785;O00461	.;GOLI4_HUMAN	L	691;663	.	ENSP00000309893:H663L	H	-	2	0	GOLIM4	169210770	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.319000	0.08039	-0.421000	0.07416	-0.923000	0.02734	CAT		0.493	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			54	130	0	0	0	0.00361	0	54	130				
ABCC5	10057	broad.mit.edu	37	3	183682981	183682981	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:183682981G>A	ENST00000334444.6	-	14	2263	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	ABCC5_ENST00000265586.6_Silent_p.L675L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	675	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L675L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACCTCCGTCAGGTCGCTGCTG	0.597																																							uc003fmg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2023-2025)CTG>TTG		ATP-binding cassette, sub-family C, member 5							53.0	54.0	53.0					3																	183682981		2112	4238	6350	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183682981G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2023C>T	3.37:g.183682981G>A						ABCC5_uc011bqt.1_Silent_p.L203L|ABCC5_uc010hxl.2_Silent_p.L675L	p.L675L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	2188	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		675			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2023C>T	CCDS43176.1																																																																																				0.597	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		15	53	0	0	0	0.006122	0	15	53				
MASP1	5648	broad.mit.edu	37	3	186961390	186961390	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:186961390T>A	ENST00000337774.5	-	9	1499	c.1110A>T	c.(1108-1110)ccA>ccT	p.P370P	MASP1_ENST00000296280.6_Silent_p.P370P|MASP1_ENST00000392472.2_Silent_p.P257P|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	370	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.P370P(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCAGCTCTCCTGGGGCTCTAC	0.478																																							uc003frh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|liver(1)	4						c.(1108-1110)CCA>CCT		mannan-binding lectin serine protease 1 isoform							172.0	163.0	166.0					3																	186961390		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186961390T>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1110A>T	3.37:g.186961390T>A						MASP1_uc003fri.2_Silent_p.P370P|MASP1_uc003frj.2_Silent_p.P339P	p.P370P	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	9	1442	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		370			Sushi 2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1110A>T	CCDS33907.1																																																																																				0.478	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		11	158	0	0	0	0.000978	0	11	158				
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																							uc011bto.1		NA																	0					0						c.(6490-6492)ACC>ACT		mucin 4 isoform a							15.0	15.0	15.0					3																	195511959		676	1556	2232	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.T2164T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6952	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	45					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6492C>T	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	0.009096	0	3	4				
ZNF732	654254	broad.mit.edu	37	4	265785	265785	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:265785A>T	ENST00000419098.1	-	4	871	c.861T>A	c.(859-861)atT>atA	p.I287I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	287					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.I259I(1)|p.I287I(1)		endometrium(1)|lung(2)	3						AGGATGAGGTAATGATTTTGC	0.393																																							uc011buu.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(856-858)ATT>ATA		zinc finger protein 732							59.0	53.0	55.0					4																	265785		692	1591	2283	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265785A>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.861T>A	4.37:g.265785A>T						ZNF732_uc010ibb.1_Intron	p.I286I	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	872	-			287			C2H2-type 6.			Silent	SNP	ENST00000419098.1	37	c.858T>A	CCDS46990.1																																																																																				0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		3	32	0	0	0	0.004672	0	3	32				
HGFAC	3083	broad.mit.edu	37	4	3451122	3451122	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:3451122C>T	ENST00000382774.3	+	14	2059	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	HGFAC_ENST00000511533.1_Silent_p.P655P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	648					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P648P(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGCCTCCCAGGCGGCTTG	0.627																																							uc003ghc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1942-1944)CCC>CCT		HGF activator preproprotein							43.0	45.0	45.0					4																	3451122		2203	4298	6501	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3451122C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1944C>T	4.37:g.3451122C>T						HGFAC_uc010icw.2_Silent_p.P655P	p.P648P	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	14	1947	+			648					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.1944C>T	CCDS3369.1																																																																																				0.627	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			5	59	0	0	0	0.001984	0	5	59				
SLIT2	9353	broad.mit.edu	37	4	20619258	20619258	+	Missense_Mutation	SNP	G	G	C	rs141897818	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:20619258G>C	ENST00000504154.1	+	36	4585	c.4333G>C	c.(4333-4335)Gac>Cac	p.D1445H	SLIT2_ENST00000273739.5_Missense_Mutation_p.D1458H|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1437H|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1441H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1445					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D1445H(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATACACGGGGGACAGCTGTGA	0.537																																							uc003gpr.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4333-4335)GAC>CAC		slit homolog 2 precursor		G	HIS/ASP	0,4406		0,0,2203	59.0	53.0	55.0		4333	5.6	1.0	4	dbSNP_134	55	14,8586	8.4+/-32.0	0,14,4286	yes	missense	SLIT2	NM_004787.1	81	0,14,6489	CC,CG,GG		0.1628,0.0,0.1076	benign	1445/1530	20619258	14,12992	2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619258G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4333G>C	4.37:g.20619258G>C	ENSP00000422591:p.Asp1445His					SLIT2_uc003gps.1_Missense_Mutation_p.D1437H	p.D1445H	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4537	+			1445					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4333G>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930530	0.73327	0.0	0.001628	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80909	-1.42;-1.43;-1.35;-1.4	5.61	5.61	0.85477	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.140695	0.64402	D	0.000005	T	0.77765	0.4179	L	0.37850	1.14	0.58432	D	0.999994	B;P	0.41041	0.003;0.736	B;B	0.41988	0.012;0.372	T	0.78270	-0.2269	10	0.48119	T	0.1	.	19.6557	0.95837	0.0:0.0:1.0:0.0	.	1437;1445	O94813-3;O94813	.;SLIT2_HUMAN	H	1437;1445;1458;1441;1441	ENSP00000427548:D1437H;ENSP00000422591:D1445H;ENSP00000273739:D1458H;ENSP00000422261:D1441H	ENSP00000273739:D1458H	D	+	1	0	SLIT2	20228356	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.682000	0.84083	2.643000	0.89663	0.557000	0.71058	GAC		0.537	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	28	0	0	0	0.004482	0	6	28				
PPARGC1A	10891	broad.mit.edu	37	4	23814671	23814671	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:23814671G>A	ENST00000264867.2	-	9	1990	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	624	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S624L(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGCGATCTTGAACGTGATCT	0.493																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1870-1872)TCA>TTA		peroxisome proliferator-activated receptor							204.0	180.0	188.0					4																	23814671		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23814671G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1871C>T	4.37:g.23814671G>A	ENSP00000264867:p.Ser624Leu					PPARGC1A_uc003gqt.2_RNA	p.S624L	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			9	1991	-		Breast(46;0.0503)	624			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1871C>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081232	0.55753	.	.	ENSG00000109819	ENST00000264867	T	0.29397	1.57	5.7	5.7	0.88788	.	0.183620	0.49305	D	0.000141	T	0.54983	0.1892	M	0.71581	2.175	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.55270	-0.8167	10	0.66056	D	0.02	-5.0196	19.8405	0.96681	0.0:0.0:1.0:0.0	.	624	Q9UBK2	PRGC1_HUMAN	L	624	ENSP00000264867:S624L	ENSP00000264867:S624L	S	-	2	0	PPARGC1A	23423769	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	7.159000	0.77483	2.692000	0.91855	0.655000	0.94253	TCA		0.493	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		6	248	0	0	0	0.001984	0	6	248				
ARAP2	116984	broad.mit.edu	37	4	36212324	36212324	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:36212324A>C	ENST00000303965.4	-	6	1664	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	392					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.V392G(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AATATCTTCCACCTTGTCCTC	0.343																																							uc003gsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1174-1176)GTG>GGG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							125.0	132.0	130.0					4																	36212324		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36212324A>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1175T>G	4.37:g.36212324A>C	ENSP00000302895:p.Val392Gly					ARAP2_uc003gsr.1_Missense_Mutation_p.V392G	p.V392G	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			6	1513	-			392					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1175T>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086996	0.55861	.	.	ENSG00000047365	ENST00000303965	T	0.09723	2.95	5.6	4.41	0.53225	.	0.348037	0.26503	N	0.024003	T	0.14960	0.0361	M	0.62723	1.935	0.50467	D	0.999879	P;P	0.50710	0.938;0.938	P;P	0.46049	0.502;0.502	T	0.01188	-1.1424	10	0.87932	D	0	.	7.3395	0.26630	0.8297:0.0:0.1703:0.0	.	322;392	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	G	392	ENSP00000302895:V392G	ENSP00000302895:V392G	V	-	2	0	ARAP2	35888719	0.810000	0.29049	0.936000	0.37596	0.746000	0.42486	1.590000	0.36654	0.946000	0.37632	0.477000	0.44152	GTG		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		6	218	0	0	0	0.001168	0	6	218				
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:46067560G>A	ENST00000295452.4	-	4	530	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAAACGACTGTCAAACCAGG	0.294																																							uc003gxb.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		prostate(1)|lung(1)	ovary(2)	2						c.(361-363)GAC>GAT		gamma-aminobutyric acid A receptor, gamma 1							45.0	46.0	46.0					4																	46067560		2203	4299	6502	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067560G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.363C>T	4.37:g.46067560G>A							p.D121D	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	515	-			121			Extracellular (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.363C>T	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		13	27	0	0	0	0.00499	0	13	27				
GABRA2	2555	broad.mit.edu	37	4	46252443	46252443	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:46252443C>A	ENST00000510861.1	-	10	1411	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I	GABRA2_ENST00000356504.1_Missense_Mutation_p.S413I|GABRA2_ENST00000540012.1_Missense_Mutation_p.S418I|GABRA2_ENST00000514090.1_Missense_Mutation_p.S413I|GABRA2_ENST00000381620.4_Missense_Mutation_p.S413I|GABRA2_ENST00000507069.1_Missense_Mutation_p.S473I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	413					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.S413I(1)		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)	TTTGCTAACACTGTTGAAAGT	0.393																																							uc003gxc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1237-1239)AGT>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)						194.0	197.0	196.0					4																	46252443		2203	4299	6502	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.chr4:46252443C>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.1238G>T	4.37:g.46252443C>A	ENSP00000421828:p.Ser413Ile					GABRA2_uc010igc.2_Missense_Mutation_p.S413I|GABRA2_uc011bzc.1_Missense_Mutation_p.S418I	p.S413I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	1911	-			413			Cytoplasmic (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1238G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240304	0.79912	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.85629	-2.01;-2.01;-2.01;-2.01;-1.55;-0.45	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90459	0.7012	L	0.51914	1.62	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.67231	0.95;0.91	D	0.90449	0.4437	10	0.72032	D	0.01	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	418;413	B7Z1H8;P47869	.;GBRA2_HUMAN	I	413;413;413;413;418;473	ENSP00000421828:S413I;ENSP00000421300:S413I;ENSP00000371033:S413I;ENSP00000348897:S413I;ENSP00000444409:S418I;ENSP00000427603:S473I	ENSP00000348897:S413I	S	-	2	0	GABRA2	45947200	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.827000	0.97445	0.655000	0.94253	AGT		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			27	208	1	0	2.48779e-11	0.005443	3.47851e-11	27	208				
ATP10D	57205	broad.mit.edu	37	4	47570994	47570994	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:47570994T>A	ENST00000273859.3	+	16	3263	c.2994T>A	c.(2992-2994)atT>atA	p.I998I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	998					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.I998I(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						CTGGACTCATTATCACTGGGA	0.512																																							uc003gxk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2992-2994)ATT>ATA		ATPase, class V, type 10D							72.0	78.0	76.0					4																	47570994		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:47570994T>A	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.2994T>A	4.37:g.47570994T>A						ATP10D_uc003gxl.1_Silent_p.I246I	p.I998I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			16	3158	+			998			Cytoplasmic (Potential).|ATP (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2994T>A	CCDS3476.1																																																																																				0.512	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		26	126	0	0	0	0.005443	0	26	126				
CORIN	10699	broad.mit.edu	37	4	47663813	47663813	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:47663813C>A	ENST00000273857.4	-	12	1649	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	CORIN_ENST00000508498.1_Missense_Mutation_p.Q411H|CORIN_ENST00000504584.1_Missense_Mutation_p.Q513H|CORIN_ENST00000502252.1_Missense_Mutation_p.Q483H|CORIN_ENST00000505909.1_Missense_Mutation_p.Q513H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	550	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Q550H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTTCAGGCCACTGTAGGCCCA	0.398																																							uc003gxm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1648-1650)CAG>CAT		corin							90.0	87.0	88.0					4																	47663813		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47663813C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1650G>T	4.37:g.47663813C>A	ENSP00000273857:p.Gln550His					CORIN_uc011bzf.1_Missense_Mutation_p.Q411H|CORIN_uc011bzg.1_Missense_Mutation_p.Q483H|CORIN_uc011bzh.1_Missense_Mutation_p.Q513H|CORIN_uc011bzi.1_Missense_Mutation_p.Q513H	p.Q550H	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			12	1743	-			550			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1650G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623857	0.66901	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.9	4.18	0.49190	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	L	0.56124	1.755	0.46356	D	0.999003	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;D;D;D	0.91635	0.999;0.947;0.995;0.999	T	0.80856	-0.1195	10	0.54805	T	0.06	.	10.8323	0.46667	0.0:0.7976:0.0:0.2024	.	513;513;483;550	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	H	550;411;483;513;513	ENSP00000273857:Q550H;ENSP00000425597:Q411H;ENSP00000424212:Q483H;ENSP00000425401:Q513H;ENSP00000423216:Q513H	ENSP00000273857:Q550H	Q	-	3	2	CORIN	47358570	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	4.314000	0.59166	0.847000	0.35167	0.650000	0.86243	CAG		0.398	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			14	47	1	0	3.27435e-08	0.00245	4.16656e-08	14	47				
TEC	7006	broad.mit.edu	37	4	48158716	48158716	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:48158716T>A	ENST00000381501.3	-	9	930	c.773A>T	c.(772-774)gAg>gTg	p.E258V	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	258	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E258V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GAGGAGTTGCTCTGCCTTGCT	0.353																																							uc003gxz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(772-774)GAG>GTG		tec protein tyrosine kinase							140.0	139.0	139.0					4																	48158716		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48158716T>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.773A>T	4.37:g.48158716T>A	ENSP00000370912:p.Glu258Val						p.E258V	NM_003215	NP_003206	P42680	TEC_HUMAN			9	864	-			258			SH2.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.773A>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435468	0.62955	.	.	ENSG00000135605	ENST00000381501	D	0.91945	-2.94	5.53	5.53	0.82687	SH2 motif (5);	0.054913	0.64402	D	0.000001	D	0.96324	0.8801	M	0.84773	2.715	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.96973	0.9710	10	0.87932	D	0	.	15.6537	0.77118	0.0:0.0:0.0:1.0	.	258	P42680	TEC_HUMAN	V	258	ENSP00000370912:E258V	ENSP00000370912:E258V	E	-	2	0	TEC	47853473	1.000000	0.71417	0.941000	0.38009	0.385000	0.30292	5.943000	0.70211	2.102000	0.63906	0.402000	0.26972	GAG		0.353	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			11	173	0	0	0	0.001368	0	11	173				
SCFD2	152579	broad.mit.edu	37	4	54231430	54231430	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:54231430A>C	ENST00000401642.3	-	1	812	c.679T>G	c.(679-681)Tgt>Ggt	p.C227G	SCFD2_ENST00000388940.4_Missense_Mutation_p.C227G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	227					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.C227G(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAATGTTCACACAGAGAACTG	0.527																																							uc003gzu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(679-681)TGT>GGT		sec1 family domain containing 2							111.0	103.0	106.0					4																	54231430		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231430A>C	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.679T>G	4.37:g.54231430A>C	ENSP00000384182:p.Cys227Gly					SCFD2_uc010igm.2_Missense_Mutation_p.C227G	p.C227G	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	813	-			227					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.679T>G	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586968	0.66105	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80824	-1.42;-1.42	5.51	5.51	0.81932	.	0.150131	0.64402	D	0.000009	T	0.80909	0.4714	L	0.40543	1.245	0.39071	D	0.960711	D;D	0.62365	0.991;0.971	P;B	0.53593	0.73;0.388	T	0.82212	-0.0569	10	0.44086	T	0.13	.	13.6279	0.62178	1.0:0.0:0.0:0.0	.	227;227	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	G	227	ENSP00000384182:C227G;ENSP00000373592:C227G	ENSP00000373592:C227G	C	-	1	0	SCFD2	53926187	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.091000	0.64505	2.317000	0.78254	0.459000	0.35465	TGT		0.527	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		12	113	0	0	0	0.001855	0	12	113				
LPHN3	23284	broad.mit.edu	37	4	62775373	62775373	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:62775373G>T	ENST00000514591.1	+	11	2108	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R	LPHN3_ENST00000504896.1_Silent_p.R593R|LPHN3_ENST00000514157.1_Silent_p.R593R|LPHN3_ENST00000506700.1_Silent_p.R593R|LPHN3_ENST00000545650.1_Silent_p.R593R|LPHN3_ENST00000511324.1_Silent_p.R661R|LPHN3_ENST00000506720.1_Silent_p.R661R|LPHN3_ENST00000512091.2_Silent_p.R593R|LPHN3_ENST00000507164.1_Silent_p.R661R|LPHN3_ENST00000514996.1_Silent_p.R593R|LPHN3_ENST00000508946.1_Silent_p.R593R|LPHN3_ENST00000509896.1_Silent_p.R661R|LPHN3_ENST00000506746.1_Silent_p.R661R|LPHN3_ENST00000507625.1_Silent_p.R661R|LPHN3_ENST00000508693.1_Silent_p.R661R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	593					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.R593R(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						ACTCTGTCCGGGCCATGGACC	0.507																																							uc010ihh.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1777-1779)CGG>CGT		latrophilin 3 precursor							46.0	49.0	48.0					4																	62775373		1931	4136	6067	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62775373G>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.1779G>T	4.37:g.62775373G>T						LPHN3_uc003hcq.3_Silent_p.R593R|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Silent_p.R422R	p.R593R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			9	1952	+			593			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1779G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704293	0.15172	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.47407	D	0.99941	.	.	.	.	.	.	T	0.43097	-0.9412	4	.	.	.	.	1.8569	0.03181	0.2472:0.1057:0.1836:0.4635	.	.	.	.	C	64	.	.	G	+	1	0	LPHN3	62457968	0.000000	0.05858	0.117000	0.21633	0.950000	0.60333	-3.327000	0.00511	-3.164000	0.00227	-0.946000	0.02672	GGC		0.507	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			8	13	1	0	4.68919e-08	0.008291	5.93505e-08	8	13				
TECRL	253017	broad.mit.edu	37	4	65146765	65146765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:65146765G>T	ENST00000381210.3	-	11	1068	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	TECRL_ENST00000507440.1_Missense_Mutation_p.L320M	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	320					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.L320M(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTACCTGGCAGTGTTTGTGTC	0.279																																							uc003hcv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)CTG>ATG		steroid 5 alpha-reductase 2-like 2							128.0	109.0	115.0					4																	65146765		2201	4293	6494	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65146765G>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.958C>A	4.37:g.65146765G>T	ENSP00000370607:p.Leu320Met					TECRL_uc010ihi.2_Intron	p.L320M	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			11	1067	-			320			Helical; (Potential).			Missense_Mutation	SNP	ENST00000381210.3	37	c.958C>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774927	0.49786	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.36699	1.24;1.24	4.8	1.1	0.20463	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.082352	0.49916	D	0.000122	T	0.57227	0.2039	M	0.85859	2.78	0.38670	D	0.952282	D	0.76494	0.999	D	0.79784	0.993	T	0.58142	-0.7688	10	0.72032	D	0.01	-7.2411	7.3131	0.26485	0.3721:0.0:0.6279:0.0	.	320	Q5HYJ1	TECRL_HUMAN	M	320	ENSP00000426043:L320M;ENSP00000370607:L320M	ENSP00000370607:L320M	L	-	1	2	TECRL	64829360	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	1.375000	0.34295	-0.044000	0.13491	-0.484000	0.04775	CTG		0.279	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		12	23	1	0	4.75885e-15	0.00499	7.02709e-15	12	23				
UBA6	55236	broad.mit.edu	37	4	68499973	68499973	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:68499973T>G	ENST00000322244.5	-	22	2059	c.2000A>C	c.(1999-2001)gAa>gCa	p.E667A		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	667					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.E667A(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TAAGACTTCTTCTGCAGATGA	0.279																																							uc003hdg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)GAA>GCA		ubiquitin-activating enzyme E1-like 2							52.0	56.0	55.0					4																	68499973		2202	4291	6493	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68499973T>G	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.2000A>C	4.37:g.68499973T>G	ENSP00000313454:p.Glu667Ala						p.E667A	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			22	2052	-			667					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2000A>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.79|15.79	2.937369|2.937369	0.52972|0.52972	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.41758|.	0.99|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.100727|.	0.64402|.	D|.	0.000003|.	T|T	0.67979|0.67979	0.2951|0.2951	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B|.	0.31968|.	0.349|.	B|.	0.27380|.	0.079|.	T|T	0.65911|0.65911	-0.6053|-0.6053	10|5	0.22706|.	T|.	0.39|.	-6.4154|-6.4154	15.7018|15.7018	0.77547|0.77547	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	667|.	A0AVT1|.	UBA6_HUMAN|.	A|Q	667|201	ENSP00000313454:E667A|.	ENSP00000313454:E667A|.	E|K	-|-	2|1	0|0	UBA6|UBA6	68182568|68182568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.924000|5.924000	0.70054|0.70054	2.120000|2.120000	0.65058|0.65058	0.477000|0.477000	0.44152|0.44152	GAA|AAG		0.279	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		14	43	0	0	0	0.003163	0	14	43				
UGT2A3	79799	broad.mit.edu	37	4	69796477	69796477	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:69796477G>T	ENST00000251566.4	-	5	1121	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	UGT2A3_ENST00000420231.2_Missense_Mutation_p.P75H	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	364					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P364H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTGGTTTTGGGATGACCTAG	0.358																																							uc003hef.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1090-1092)CCC>CAC		UDP glucuronosyltransferase 2 family,							36.0	36.0	36.0					4																	69796477		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796477G>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1091C>A	4.37:g.69796477G>T	ENSP00000251566:p.Pro364His					UGT2A3_uc010ihp.1_RNA	p.P364H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			5	1122	-			364			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1091C>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	8.688	0.906717	0.17833	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.69175	-0.38;-0.38	1.99	1.12	0.20585	.	0.126293	0.53938	D	0.000047	D	0.83704	0.5312	H	0.96301	3.8	0.35058	D	0.761293	D	0.89917	1.0	D	0.80764	0.994	D	0.84495	0.0613	10	0.87932	D	0	.	6.5205	0.22272	0.1667:0.0:0.8333:0.0	.	364	Q6UWM9	UD2A3_HUMAN	H	364;75	ENSP00000251566:P364H;ENSP00000440115:P75H	ENSP00000251566:P364H	P	-	2	0	UGT2A3	69831066	1.000000	0.71417	0.156000	0.22583	0.002000	0.02628	6.332000	0.72934	0.175000	0.19841	-0.320000	0.08662	CCC		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		9	44	1	0	1.11149e-13	0.008291	1.61115e-13	9	44				
UGT2B27P	54569	broad.mit.edu	37	4	69874726	69874726	+	IGR	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:69874726C>T								UGT2A3 (57217 upstream) : UGT2B7 (42467 downstream)																							ATAGGGATCCCATGGTAGATT	0.413																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(1045-1047)GGG>AGG		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							108.0	82.0	90.0					4																	69874726		692	1588	2280	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874726C>T																													4.37:g.69874726C>T						UGT2B10_uc011can.1_Missense_Mutation_p.G265R	p.G349R			P36537	UDB10_HUMAN			8	1181	-			386						Missense_Mutation	SNP		37	c.1045G>A																																																																																				0	0.413									55	167	0	0	0	0.00361	0	55	167				
UGT2B27P	54569	broad.mit.edu	37	4	69879759	69879759	+	IGR	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:69879759A>T								UGT2A3 (62250 upstream) : UGT2B7 (37434 downstream)																							GGATCTTGGCAAGGGCTGTTG	0.413																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(868-870)CTT>CTA		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							109.0	80.0	89.0					4																	69879759		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69879759A>T																													4.37:g.69879759A>T						UGT2B10_uc011can.1_Silent_p.L206L	p.L290L			P36537	UDB10_HUMAN			6	1006	-			327						Silent	SNP		37	c.870T>A																																																																																				0	0.413									14	167	0	0	0	0.004007	0	14	167				
UGT2B28	54490	broad.mit.edu	37	4	70160485	70160485	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:70160485C>T	ENST00000335568.5	+	6	1550	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	516					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTTTTGTTTCTGGAAGTTTG	0.413																																							uc003hej.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1546-1548)TTC>TTT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						115.0	126.0	122.0					4																	70160485		2030	4232	6262	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160485C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1548C>T	4.37:g.70160485C>T						UGT2B28_uc010ihr.2_3'UTR	p.F516F	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			6	1550	+			516			Helical; (Potential).		B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1548C>T	CCDS3528.1																																																																																				0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		6	102	0	0	0	0.00308	0	6	102				
UGT2A1	10941	broad.mit.edu	37	4	70460881	70460881	+	Splice_Site	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:70460881A>G	ENST00000503640.1	-	4	1138	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	UGT2A1_ENST00000512704.1_Splice_Site_p.L317L|UGT2A1_ENST00000286604.4_Splice_Site_p.L361L|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Splice_Site_p.L527L|UGT2A2_ENST00000457664.2_Splice_Site_p.L370L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	361					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L361L(1)|p.L370L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAGTCTTACCAAGAAGATCAT	0.338																																							uc003hem.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1081-1083)CTT>CTC		UDP glucuronosyltransferase 2 family,							122.0	116.0	118.0					4																	70460881		2203	4300	6503	SO:0001630	splice_region_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70460881A>G	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1084+1T>C	4.37:g.70460881A>G						UGT2A1_uc011caq.1_Silent_p.L527L|UGT2A1_uc010ihu.2_Silent_p.L361L|UGT2A1_uc010iht.2_Silent_p.L317L|UGT2A1_uc010ihs.2_Silent_p.L362L	p.L361L	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			4	1146	-			361			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.1083T>C	CCDS3529.1																																																																																				0.338	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	Silent	25	95	0	0	0	0.005443	0	25	95				
ANKRD17	26057	broad.mit.edu	37	4	74008402	74008402	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:74008402C>G	ENST00000358602.4	-	12	2156	c.2040G>C	c.(2038-2040)gtG>gtC	p.V680V	ANKRD17_ENST00000509867.2_Silent_p.V567V|ANKRD17_ENST00000330838.6_Silent_p.V680V|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	680					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.V680V(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)			AAAGTAGTTCCACCACTGCCA	0.433																																							uc003hgp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(2038-2040)GTG>GTC		ankyrin repeat domain protein 17 isoform a							123.0	116.0	119.0					4																	74008402		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74008402C>G	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.2040G>C	4.37:g.74008402C>G						ANKRD17_uc003hgo.2_Silent_p.V567V|ANKRD17_uc003hgq.2_Silent_p.V680V|ANKRD17_uc003hgr.2_Silent_p.V680V|ANKRD17_uc011cbd.1_Silent_p.V245V	p.V680V	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)		12	2157	-	Breast(15;0.000295)		680			ANK 14.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.2040G>C	CCDS34004.1																																																																																				0.433	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	136	0	0	0	0.00308	0	7	136				
CXCL1	2919	broad.mit.edu	37	4	74735400	74735400	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:74735400A>G	ENST00000395761.3	+	2	182	c.115A>G	c.(115-117)Act>Gct	p.T39A	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	39					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)	p.T39A(1)		lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCCGTGGCCACTGAACTGCG	0.652																																							uc003hhh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)ACT>GCT		chemokine (C-X-C motif) ligand 1							76.0	86.0	82.0					4																	74735400		2203	4300	6503	SO:0001583	missense	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735400A>G	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.115A>G	4.37:g.74735400A>G	ENSP00000379110:p.Thr39Ala						p.T39A	NM_001511	NP_001502	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	194	+	Breast(15;0.00102)		39					Q9UCR7	Missense_Mutation	SNP	ENST00000395761.3	37	c.115A>G	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842117	0.32513	.	.	ENSG00000163739	ENST00000395761	T	0.31247	1.5	5.05	-10.1	0.00402	Chemokine interleukin-8-like domain (1);	1.352830	0.04459	N	0.374024	T	0.19446	0.0467	L	0.39467	1.215	0.09310	N	1	B	0.10296	0.003	B	0.25614	0.062	T	0.11991	-1.0565	10	0.25751	T	0.34	.	4.7542	0.13075	0.1733:0.0986:0.0692:0.6588	.	39	P09341	GROA_HUMAN	A	39	ENSP00000379110:T39A	ENSP00000379110:T39A	T	+	1	0	CXCL1	74954264	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.064000	0.01387	-2.576000	0.00465	-1.293000	0.01348	ACT		0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			18	142	0	0	0	0.010504	0	18	142				
BMP3	651	broad.mit.edu	37	4	81967195	81967195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:81967195G>T	ENST00000282701.2	+	2	940	c.620G>T	c.(619-621)aGg>aTg	p.R207M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	207					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.R207M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CAACTCTTGAGGAAGGCCAAA	0.438																																							uc003hmg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(619-621)AGG>ATG		bone morphogenetic protein 3 preproprotein							120.0	131.0	127.0					4																	81967195		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967195G>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.620G>T	4.37:g.81967195G>T	ENSP00000282701:p.Arg207Met						p.R207M	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	940	+			207					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.620G>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752835	0.31046	.	.	ENSG00000152785	ENST00000282701	T	0.67345	-0.26	5.08	0.134	0.14771	Transforming growth factor-beta, N-terminal (1);	0.536026	0.23402	N	0.048564	T	0.64616	0.2614	M	0.66939	2.045	0.09310	N	1	P	0.49253	0.921	P	0.48368	0.575	T	0.57802	-0.7748	10	0.52906	T	0.07	.	7.0095	0.24855	0.3515:0.1155:0.533:0.0	.	207	P12645	BMP3_HUMAN	M	207	ENSP00000282701:R207M	ENSP00000282701:R207M	R	+	2	0	BMP3	82186219	0.995000	0.38212	0.778000	0.31720	0.311000	0.27955	1.468000	0.35332	0.131000	0.18576	0.655000	0.94253	AGG		0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			35	304	1	0	9.17885e-22	0.003271	1.44785e-21	35	304				
FAM175A	84142	broad.mit.edu	37	4	84391519	84391519	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:84391519G>C	ENST00000321945.7	-	5	421	c.313C>G	c.(313-315)Cat>Gat	p.H105D	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.H56D	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	105	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.H105Y(1)|p.H105D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGATCTGAATGACGACGGAAT	0.333																																							uc003hou.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(313-315)CAT>GAT		coiled-coil domain containing 98							111.0	120.0	117.0					4																	84391519		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84391519G>C	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.313C>G	4.37:g.84391519G>C	ENSP00000369857:p.His105Asp					FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_5'UTR	p.H105D	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			5	378	-			105			MPN-like.		A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.313C>G	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218869	0.58560	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	T;T	0.40476	1.03;1.03	5.9	4.98	0.66077	.	0.044508	0.85682	D	0.000000	T	0.30166	0.0756	N	0.22421	0.69	0.80722	D	1	P	0.34587	0.458	B	0.35039	0.194	T	0.13980	-1.0489	10	0.62326	D	0.03	-16.2008	11.6302	0.51168	0.0:0.0:0.619:0.381	.	105	Q6UWZ7	F175A_HUMAN	D	105;56;56	ENSP00000369857:H105D;ENSP00000426763:H56D	ENSP00000369857:H105D	H	-	1	0	FAM175A	84610543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.392000	0.66272	2.786000	0.95864	0.563000	0.77884	CAT		0.333	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		5	155	0	0	0	0.001168	0	5	155				
GRID2	2895	broad.mit.edu	37	4	94343933	94343933	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:94343933T>C	ENST00000282020.4	+	10	1617	c.1359T>C	c.(1357-1359)ttT>ttC	p.F453F	GRID2_ENST00000510992.1_Silent_p.F358F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	453					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.F453F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AAGAACCTTTTGTGATGGTCT	0.358																																							uc011cdt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1357-1359)TTT>TTC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						74.0	76.0	75.0					4																	94343933		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94343933T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1359T>C	4.37:g.94343933T>C						GRID2_uc011cdu.1_Silent_p.F358F	p.F453F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1617	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	453			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1359T>C	CCDS3637.1																																																																																				0.358	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			22	42	0	0	0	0.00278	0	22	42				
PDHA2	5161	broad.mit.edu	37	4	96762021	96762021	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:96762021C>G	ENST00000295266.4	+	1	783	c.720C>G	c.(718-720)taC>taG	p.Y240*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	240					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.Y240*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCCCTGATTACTACAAGAGGG	0.428																																							uc003htr.3		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(718-720)TAC>TAG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						112.0	117.0	115.0					4																	96762021		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762021C>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.720C>G	4.37:g.96762021C>G	ENSP00000295266:p.Tyr240*						p.Y240*	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	783	+		Hepatocellular(203;0.114)	240					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.720C>G	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655024	0.88056	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.81	1.76	0.24704	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.441	6.6423	0.22917	0.0:0.5237:0.0:0.4763	.	.	.	.	X	240	.	ENSP00000295266:Y240X	Y	+	3	2	PDHA2	96981044	0.998000	0.40836	0.984000	0.44739	0.882000	0.50991	0.579000	0.23788	0.212000	0.20703	0.467000	0.42956	TAC		0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			8	57	0	0	0	0.006214	0	8	57				
ADH1B	125	broad.mit.edu	37	4	100237263	100237263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:100237263G>T	ENST00000305046.8	-	5	426	c.359C>A	c.(358-360)cCt>cAt	p.P120H	ADH1B_ENST00000504498.1_5'Flank|ADH1B_ENST00000394887.3_Missense_Mutation_p.P80H			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	120					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.P120H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGTCCCCCGAGGATTGCCTAG	0.547																																							uc003hus.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(358-360)CCT>CAT		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						71.0	69.0	70.0					4																	100237263		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237263G>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.359C>A	4.37:g.100237263G>T	ENSP00000306606:p.Pro120His					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.P80H|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.P80H	p.P120H	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	443	-			120					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.359C>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617421	0.14129	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.03301	3.98;4.51	3.96	2.03	0.26663	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.615820	0.03098	N	0.160682	T	0.06872	0.0175	N	0.02802	-0.49	0.09310	N	1	B;P	0.34724	0.002;0.465	B;P	0.53760	0.005;0.734	T	0.58634	-0.7602	10	0.87932	D	0	-0.003	13.0929	0.59176	0.0:0.4642:0.5358:0.0	.	80;120	A8MYN5;P00325	.;ADH1B_HUMAN	H	120;80;120	ENSP00000306606:P120H;ENSP00000378351:P80H	ENSP00000306606:P120H	P	-	2	0	ADH1B	100456286	0.002000	0.14202	0.006000	0.13384	0.195000	0.23768	0.162000	0.16501	0.580000	0.29522	0.561000	0.74099	CCT		0.547	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		27	37	1	0	7.41945e-09	0.005443	9.6088e-09	27	37				
NPNT	255743	broad.mit.edu	37	4	106861316	106861316	+	Missense_Mutation	SNP	G	G	C	rs144069851	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:106861316G>C	ENST00000379987.2	+	6	806	c.590G>C	c.(589-591)tGt>tCt	p.C197S	NPNT_ENST00000514622.1_Missense_Mutation_p.C197S|NPNT_ENST00000305572.8_Missense_Mutation_p.C197S|NPNT_ENST00000427316.2_Missense_Mutation_p.C227S|NPNT_ENST00000506666.1_Missense_Mutation_p.C227S|NPNT_ENST00000453617.2_Missense_Mutation_p.C214S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	197	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.C197S(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ATCTGCAAGTGTCATAAAGGC	0.408																																							uc003hya.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(589-591)TGT>TCT		nephronectin precursor							212.0	182.0	192.0					4																	106861316		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106861316G>C		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.590G>C	4.37:g.106861316G>C	ENSP00000369323:p.Cys197Ser					NPNT_uc011cfc.1_Missense_Mutation_p.C214S|NPNT_uc011cfd.1_Missense_Mutation_p.C227S|NPNT_uc011cfe.1_Missense_Mutation_p.C227S|NPNT_uc010ilt.1_Missense_Mutation_p.C197S|NPNT_uc011cff.1_Missense_Mutation_p.C197S|NPNT_uc010ilu.1_Missense_Mutation_p.C93S	p.C197S	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	6	795	+		Hepatocellular(203;0.217)	197			EGF-like 4; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.590G>C	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066858	0.76301	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	D;D;D;D;D;D;D	0.99429	-5.89;-5.89;-5.89;-5.89;-5.89;-5.89;-5.89	5.44	5.44	0.79542	Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96430	3.82	0.58432	D	0.999999	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	0.97110	0.999;1.0;0.999;0.999;1.0;0.999;0.999	D	0.97360	0.9969	10	0.87932	D	0	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	197;227;227;214;244;197;197	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.;.;.;.;.;.;NPNT_HUMAN	S	197;214;227;197;197;227;244	ENSP00000369323:C197S;ENSP00000402884:C214S;ENSP00000389252:C227S;ENSP00000422044:C197S;ENSP00000302557:C197S;ENSP00000422474:C227S;ENSP00000426146:C244S	ENSP00000302557:C197S	C	+	2	0	NPNT	107080765	1.000000	0.71417	0.992000	0.48379	0.443000	0.32047	9.357000	0.97099	2.553000	0.86117	0.655000	0.94253	TGT		0.408	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		25	130	0	0	0	0.004656	0	25	130				
PAPSS1	9061	broad.mit.edu	37	4	108552980	108552980	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:108552980C>A	ENST00000265174.4	-	11	1815	c.1543G>T	c.(1543-1545)Gcc>Tcc	p.A515S		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	515					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.A515S(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TAAAAGTTGGCTCCTGCAACC	0.433																																							uc003hyk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1543-1545)GCC>TCC		3'-phosphoadenosine 5'-phosphosulfate synthase							61.0	55.0	57.0					4																	108552980		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108552980C>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1543G>T	4.37:g.108552980C>A	ENSP00000265174:p.Ala515Ser						p.A515S	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	11	1627	-		Hepatocellular(203;0.217)	515			Adenylyl-sulfate kinase.		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1543G>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008594	0.93346	.	.	ENSG00000138801	ENST00000265174	T	0.35605	1.3	5.62	5.62	0.85841	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.86651	2.83	0.80722	D	1	D	0.57899	0.981	D	0.78314	0.991	T	0.70487	-0.4858	9	.	.	.	-12.386	19.69	0.95996	0.0:1.0:0.0:0.0	.	515	O43252	PAPS1_HUMAN	S	515	ENSP00000265174:A515S	.	A	-	1	0	PAPSS1	108772429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.348000	0.79366	2.648000	0.89879	0.650000	0.86243	GCC		0.433	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			6	40	1	0	0.00198382	0.001984	0.00213469	6	40				
ETNPPL	64850	broad.mit.edu	37	4	109672168	109672168	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:109672168C>A	ENST00000296486.3	-	7	779	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.A169S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A151S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A203S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	209						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.A209S(1)									GCAATAAAGGCAGCAATCTAT	0.433																																							uc003hzc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)GCC>TCC		alanine-glyoxylate aminotransferase 2-like 1							124.0	127.0	126.0					4																	109672168		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109672168C>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.625G>T	4.37:g.109672168C>A	ENSP00000296486:p.Ala209Ser					AGXT2L1_uc010imc.2_Missense_Mutation_p.A203S|AGXT2L1_uc011cfm.1_Missense_Mutation_p.A169S|AGXT2L1_uc011cfn.1_Missense_Mutation_p.A136S|AGXT2L1_uc011cfo.1_Missense_Mutation_p.A151S	p.A209S	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	7	806	-			209					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.625G>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336702	0.95758	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	6.07	6.07	0.98685	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.94142	3.5	0.80722	D	1	D;P;P	0.57257	0.979;0.931;0.935	P;P;P	0.60286	0.872;0.615;0.734	D	0.97720	1.0196	9	.	.	.	-18.6773	20.6452	0.99591	0.0:1.0:0.0:0.0	.	151;203;209	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	209;203;151;169	ENSP00000296486:A209S;ENSP00000392269:A203S;ENSP00000427065:A151S;ENSP00000423240:A169S	.	A	-	1	0	AGXT2L1	109891617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.650000	0.86243	GCC		0.433	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		59	94	1	0	6.12789e-21	0.00361	9.5862e-21	59	94				
NDST4	64579	broad.mit.edu	37	4	115760594	115760594	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:115760594T>C	ENST00000264363.2	-	11	2904	c.2226A>G	c.(2224-2226)ctA>ctG	p.L742L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	742	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L742L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCCAGGTACTAGGCATCTTC	0.378																																							uc003ibu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(2224-2226)CTA>CTG		heparan sulfate N-deacetylase/N-sulfotransferase							153.0	146.0	148.0					4																	115760594		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115760594T>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2226A>G	4.37:g.115760594T>C						NDST4_uc010imw.2_RNA	p.L742L	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	11	2905	-		Ovarian(17;0.156)	742			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.2226A>G	CCDS3706.1																																																																																				0.378	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	120	0	0	0	0.008291	0	8	120				
KIAA1109	84162	broad.mit.edu	37	4	123155942	123155942	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:123155942G>T	ENST00000264501.4	+	27	3711	c.3338G>T	c.(3337-3339)tGg>tTg	p.W1113L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.W1113L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.W1113L			Q2LD37	K1109_HUMAN	KIAA1109	1113					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.W1113L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGTTTTTATGGCCAGATGAT	0.343																																							uc003ieh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3337-3339)TGG>TTG		fragile site-associated protein							149.0	139.0	142.0					4																	123155942		1824	4080	5904	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123155942G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3338G>T	4.37:g.123155942G>T	ENSP00000264501:p.Trp1113Leu					KIAA1109_uc003iei.1_Missense_Mutation_p.W866L|KIAA1109_uc010ins.1_Missense_Mutation_p.W456L	p.W1113L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			25	3383	+			1113					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3338G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.587423|4.587423	0.86851|0.86851	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.62941	.|-0.01;-0.01;0.77	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|118.256000	.|0.00166	.|U	.|0.000019	D|D	0.83538|0.83538	0.5276|0.5276	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.72982	.|0.979	T|T	0.67122|0.67122	-0.5750|-0.5750	5|10	.|0.62326	.|D	.|0.03	.|.	18.5576|18.5576	0.91090|0.91090	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1113	.|Q2LD37	.|K1109_HUMAN	I|L	944|1113	.|ENSP00000264501:W1113L;ENSP00000373390:W1113L;ENSP00000389925:W1113L	.|ENSP00000264501:W1113L	M|W	+|+	3|2	0|0	KIAA1109|KIAA1109	123375392|123375392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.147000|9.147000	0.94646|0.94646	2.386000|2.386000	0.81285|0.81285	0.563000|0.563000	0.77884|0.77884	ATG|TGG		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		19	107	1	0	1.64113e-05	0.010504	1.9113e-05	19	107				
FAT4	79633	broad.mit.edu	37	4	126412916	126412916	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:126412916A>G	ENST00000394329.3	+	17	14952	c.14939A>G	c.(14938-14940)tAt>tGt	p.Y4980C	FAT4_ENST00000335110.5_Missense_Mutation_p.Y3221C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4980					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.Y4980C(1)|p.Y4923C(1)		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						GCAGAACAGTATGTGTGAAGT	0.373																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14938-14940)TAT>TGT		FAT tumor suppressor homolog 4 precursor							35.0	35.0	35.0					4																	126412916		2202	4299	6501	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412916A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14939A>G	4.37:g.126412916A>G	ENSP00000377862:p.Tyr4980Cys					FAT4_uc011cgp.1_Missense_Mutation_p.Y3221C|FAT4_uc003ifi.1_Missense_Mutation_p.Y2457C	p.Y4980C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14939	+			4980			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14939A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.66	2.600480	0.46423	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.80033	-0.94;-1.33	4.99	4.99	0.66335	.	0.000000	0.31821	U	0.007003	D	0.88093	0.6344	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.89395	0.3691	10	0.87932	D	0	.	13.8989	0.63790	1.0:0.0:0.0:0.0	.	3221;4980;4979	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	4980;3221	ENSP00000377862:Y4980C;ENSP00000335169:Y3221C	ENSP00000335169:Y3221C	Y	+	2	0	FAT4	126632366	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	9.145000	0.94634	1.880000	0.54463	0.402000	0.26972	TAT		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	21	0	0	0	0.009096	0	3	21				
PCDH10	57575	broad.mit.edu	37	4	134072018	134072018	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134072018G>T	ENST00000264360.5	+	1	1549	c.723G>T	c.(721-723)ctG>ctT	p.L241L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	241	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.L241L(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)		TCCGAGTGCTGGACTCCAATG	0.647																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(721-723)CTG>CTT		protocadherin 10 isoform 1 precursor							79.0	75.0	77.0					4																	134072018		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072018G>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.723G>T	4.37:g.134072018G>T						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.L241L	p.L241L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1549	+			241			Extracellular (Potential).|Cadherin 2.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.723G>T	CCDS34063.1																																																																																				0.647	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	77	1	0	5.50884e-06	0.001368	6.51169e-06	10	77				
PCDH10	57575	broad.mit.edu	37	4	134072783	134072783	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134072783C>A	ENST00000264360.5	+	1	2314	c.1488C>A	c.(1486-1488)gcC>gcA	p.A496A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	496	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.A496A(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)		GCGCCAACGCCCAGCTTGCCT	0.587																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1486-1488)GCC>GCA		protocadherin 10 isoform 1 precursor							59.0	60.0	60.0					4																	134072783		2203	4299	6502	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072783C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1488C>A	4.37:g.134072783C>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A496A	p.A496A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2314	+			496			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1488C>A	CCDS34063.1																																																																																				0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	61	1	0	5.16669e-11	0.000978	7.16085e-11	11	61				
PCDH10	57575	broad.mit.edu	37	4	134073068	134073068	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134073068C>A	ENST00000264360.5	+	1	2599	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	591	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)	p.P591P(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)		AGGTGCTGCCCCGCTCGGCGG	0.667																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1771-1773)CCC>CCA		protocadherin 10 isoform 1 precursor							20.0	24.0	22.0					4																	134073068		2104	4182	6286	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073068C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1773C>A	4.37:g.134073068C>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P591P	p.P591P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2599	+			591			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1773C>A	CCDS34063.1																																																																																				0.667	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		20	23	1	0	3.62473e-10	0.001882	4.91595e-10	20	23				
ELF2	1998	broad.mit.edu	37	4	139981626	139981626	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:139981626C>A	ENST00000394235.2	-	9	1475	c.973G>T	c.(973-975)Gtt>Ttt	p.V325F	ELF2_ENST00000358635.3_Missense_Mutation_p.V277F|ELF2_ENST00000265495.4_Missense_Mutation_p.V325F|ELF2_ENST00000379550.1_Missense_Mutation_p.V337F|ELF2_ENST00000510408.1_Missense_Mutation_p.V265F|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379549.2_Missense_Mutation_p.V248F	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.V325F(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCACTGCGAACAGAGGATGCT	0.438																																							uc003ihp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(973-975)GTT>TTT		E74-like factor 2 (ets domain transcription							111.0	108.0	109.0					4																	139981626		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139981626C>A	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.973G>T	4.37:g.139981626C>A	ENSP00000377782:p.Val325Phe					ELF2_uc003ihm.1_Missense_Mutation_p.V277F|ELF2_uc003ihn.1_Missense_Mutation_p.V265F|ELF2_uc003iho.1_Missense_Mutation_p.V248F|ELF2_uc011chc.1_Missense_Mutation_p.V140F	p.V325F	NM_201999	NP_973728	Q15723	ELF2_HUMAN			8	1179	-	all_hematologic(180;0.162)		337						Missense_Mutation	SNP	ENST00000394235.2	37	c.973G>T	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433873	0.62955	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.13538	2.58;2.83;2.8;2.83;2.82;2.62	5.87	5.87	0.94306	.	0.273281	0.34777	N	0.003685	T	0.12902	0.0313	N	0.24115	0.695	0.44012	D	0.996723	P;P;P;P;P	0.47604	0.694;0.755;0.898;0.61;0.846	B;B;B;B;B	0.41988	0.126;0.347;0.352;0.372;0.367	T	0.05801	-1.0863	9	.	.	.	.	20.2087	0.98285	0.0:1.0:0.0:0.0	.	140;325;248;265;277	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	F	277;325;337;325;248;140;265	ENSP00000351458:V277F;ENSP00000377782:V325F;ENSP00000368868:V337F;ENSP00000265495:V325F;ENSP00000368867:V248F;ENSP00000426997:V265F	.	V	-	1	0	ELF2	140201076	1.000000	0.71417	0.978000	0.43139	0.457000	0.32468	5.682000	0.68182	2.791000	0.96007	0.655000	0.94253	GTT		0.438	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		22	129	1	0	6.44725e-10	0.002299	8.6695e-10	22	129				
NR3C2	4306	broad.mit.edu	37	4	149357469	149357469	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:149357469T>A	ENST00000358102.3	-	2	906	c.544A>T	c.(544-546)Aaa>Taa	p.K182*	NR3C2_ENST00000512865.1_Nonsense_Mutation_p.K182*|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.K182*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.K182*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.K182*	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	182	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K182*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATAGGGCTTTTAACAACGGCG	0.512																																					Melanoma(27;428 957 40335 51025 51111)	Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(544-546)AAA>TAA		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						105.0	106.0	105.0					4																	149357469		2203	4300	6503	SO:0001587	stop_gained	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357469T>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.544A>T	4.37:g.149357469T>A	ENSP00000350815:p.Lys182*					NR3C2_uc003ilk.3_Nonsense_Mutation_p.K182*|NR3C2_uc010iph.2_RNA	p.K182*	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	878	-	all_hematologic(180;0.151)		182			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.544A>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.912998	0.92178	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	.	.	.	5.38	5.38	0.77491	.	0.172926	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3787	0.74633	0.0:0.0:0.0:1.0	.	.	.	.	X	182	.	.	K	-	1	0	NR3C2	149576919	1.000000	0.71417	0.700000	0.30305	0.226000	0.24999	4.053000	0.57427	2.035000	0.60131	0.383000	0.25322	AAA		0.512	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			5	114	0	0	0	0.000602	0	5	114				
MAB21L2	10586	broad.mit.edu	37	4	151504393	151504393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:151504393C>A	ENST00000317605.4	+	1	1317	c.212C>A	c.(211-213)cCc>cAc	p.P71H	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	71					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.P71H(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GTCATTTCGCCCACCGAATTT	0.597																																							uc003ilw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)CCC>CAC		mab-21-like protein 2							73.0	65.0	67.0					4																	151504393		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504393C>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.212C>A	4.37:g.151504393C>A	ENSP00000324701:p.Pro71His					LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.P71H	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1317	+	all_hematologic(180;0.151)		71					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.212C>A	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808418	0.70797	.	.	ENSG00000181541	ENST00000317605	T	0.10288	2.89	5.91	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	M	0.83692	2.655	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.33929	-0.9849	10	0.87932	D	0	-17.6952	15.1828	0.72972	0.0:0.9327:0.0:0.0673	.	71	Q9Y586	MB212_HUMAN	H	71	ENSP00000324701:P71H	ENSP00000324701:P71H	P	+	2	0	MAB21L2	151723843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	1.503000	0.48686	0.655000	0.94253	CCC		0.597	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		23	34	1	0	2.44723e-14	0.004656	3.56919e-14	23	34				
NPY2R	4887	broad.mit.edu	37	4	156135336	156135336	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:156135336G>C	ENST00000329476.3	+	2	734	c.245G>C	c.(244-246)cGc>cCc	p.R82P	NPY2R_ENST00000506608.1_Missense_Mutation_p.R82P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	82					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.R82P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AAGAGCATGCGCACAGTAACC	0.453																																							uc003ioq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(244-246)CGC>CCC		neuropeptide Y receptor Y2							132.0	130.0	131.0					4																	156135336		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135336G>C	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.245G>C	4.37:g.156135336G>C	ENSP00000332591:p.Arg82Pro					NPY2R_uc003ior.2_Missense_Mutation_p.R82P	p.R82P	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	740	+	all_hematologic(180;0.24)	Renal(120;0.0854)	82			Cytoplasmic (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.245G>C	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432051	0.62844	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.45276	0.9;0.9	5.51	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.93678	3.445	0.80722	D	1	D	0.56746	0.977	P	0.61800	0.894	T	0.75616	-0.3256	10	0.87932	D	0	.	11.8117	0.52185	0.1438:0.0:0.8562:0.0	.	82	P49146	NPY2R_HUMAN	P	82	ENSP00000332591:R82P;ENSP00000426366:R82P	ENSP00000332591:R82P	R	+	2	0	NPY2R	156354786	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.875000	0.63072	0.791000	0.33826	0.643000	0.83706	CGC		0.453	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		6	53	0	0	0	0.001168	0	6	53				
MORF4	10934	broad.mit.edu	37	4	174537438	174537438	+	IGR	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:174537438T>A								RP11-475B2.1 (21731 upstream) : RP11-161D15.2 (280106 downstream)																							CCTTATTATCTGTGTTTCCAT	0.393																																							uc011cke.1		NA																	0					0						c.(355-357)ACA>ACT		mortality factor 4							197.0	207.0	204.0					4																	174537438		2200	4299	6499	SO:0001628	intergenic_variant	10934							g.chr4:174537438T>A																													4.37:g.174537438T>A							p.T119T	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	357	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Silent	SNP		37	c.357A>T																																																																																				0	0.393									15	247	0	0	0	0.003163	0	15	247				
SPCS3	60559	broad.mit.edu	37	4	177241368	177241368	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:177241368G>C	ENST00000503362.1	+	1	254	c.141G>C	c.(139-141)atG>atC	p.M47I	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.M47I(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGATCATGCTGTGAGTGA	0.741																																							uc003iur.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(139-141)ATG>ATC		signal peptidase complex subunit 3							20.0	24.0	23.0					4																	177241368		1949	4137	6086	SO:0001583	missense	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177241368G>C	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.141G>C	4.37:g.177241368G>C	ENSP00000427463:p.Met47Ile						p.M47I	NM_021928	NP_068747	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	1	279	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	47			Lumenal (Potential).		P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	c.141G>C	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454104	0.26161	.	.	ENSG00000129128	ENST00000503362	.	.	.	3.18	3.18	0.36537	.	0.189274	0.53938	D	0.000042	T	0.42017	0.1184	N	0.21142	0.635	0.58432	D	0.999996	B	0.02656	0.0	B	0.09377	0.004	T	0.31861	-0.9928	9	0.31617	T	0.26	-7.8087	13.5858	0.61931	0.0:0.0:1.0:0.0	.	47	P61009	SPCS3_HUMAN	I	47	.	ENSP00000427463:M47I	M	+	3	0	SPCS3	177478362	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	4.834000	0.62774	1.741000	0.51731	0.455000	0.32223	ATG		0.741	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		13	28	0	0	0	0.001855	0	13	28				
ANKRD37	353322	broad.mit.edu	37	4	186320857	186320857	+	Missense_Mutation	SNP	T	T	A	rs200765948		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:186320857T>A	ENST00000335174.4	+	4	846	c.406T>A	c.(406-408)Tgt>Agt	p.C136S		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	136						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C136S(1)		NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAGGAATGATTGTGTTGCCGT	0.438																																							uc003ixm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)TGT>AGT		ankyrin repeat domain 37							121.0	129.0	126.0					4																	186320857		2203	4300	6503	SO:0001583	missense	353322					cytoplasm|nucleus		g.chr4:186320857T>A	AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.406T>A	4.37:g.186320857T>A	ENSP00000335147:p.Cys136Ser					ANKRD37_uc011cks.1_Missense_Mutation_p.C136S|UFSP2_uc003ixn.2_3'UTR|UFSP2_uc003ixo.2_3'UTR|UFSP2_uc003ixq.2_3'UTR|UFSP2_uc003ixp.2_RNA	p.C136S	NM_181726	NP_859077	Q7Z713	ANR37_HUMAN		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)	4	644	+		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	136						Missense_Mutation	SNP	ENST00000335174.4	37	c.406T>A	CCDS3841.1	.	.	.	.	.	.	.	.	.	.	T	5.739	0.320773	0.10845	.	.	ENSG00000186352	ENST00000335174	T	0.74947	-0.89	5.74	-3.08	0.05347	.	0.572348	0.18211	N	0.148191	T	0.49847	0.1581	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21895	-1.0232	10	0.22109	T	0.4	2.775	1.4692	0.02412	0.1279:0.2946:0.2416:0.3358	.	136;136	B4E066;Q7Z713	.;ANR37_HUMAN	S	136	ENSP00000335147:C136S	ENSP00000335147:C136S	C	+	1	0	ANKRD37	186557851	0.015000	0.18098	0.010000	0.14722	0.011000	0.07611	-0.033000	0.12246	-0.519000	0.06444	-0.709000	0.03644	TGT		0.438	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726		14	105	0	0	0	0.00499	0	14	105				
ZFP42	132625	broad.mit.edu	37	4	188924650	188924650	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:188924650C>T	ENST00000326866.4	+	4	1097	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S230L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	230					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S230L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTTGAGAGCTCAAAACTAAAG	0.493																																							uc003izg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(688-690)TCA>TTA		zinc finger protein 42							116.0	122.0	120.0					4																	188924650		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924650C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.689C>T	4.37:g.188924650C>T	ENSP00000317686:p.Ser230Leu					ZFP42_uc003izh.1_Missense_Mutation_p.S230L|ZFP42_uc003izi.1_Missense_Mutation_p.S230L	p.S230L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	934	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	230			C2H2-type 2.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.689C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069522	0.76301	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.42900	0.96;0.96	4.39	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304578	0.31949	N	0.006809	T	0.44222	0.1283	L	0.56769	1.78	0.09310	N	1	D	0.64830	0.994	P	0.46659	0.523	T	0.43814	-0.9368	10	0.87932	D	0	.	12.5078	0.55991	0.0:0.8301:0.1699:0.0	.	230	Q96MM3	ZFP42_HUMAN	L	230	ENSP00000317686:S230L;ENSP00000424662:S230L	ENSP00000317686:S230L	S	+	2	0	ZFP42	189161644	0.265000	0.24102	0.002000	0.10522	0.009000	0.06853	4.645000	0.61404	1.405000	0.46838	0.655000	0.94253	TCA		0.493	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		6	78	0	0	0	0.001984	0	6	78				
SLC9A3	6550	broad.mit.edu	37	5	482784	482784	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:482784C>T	ENST00000264938.3	-	7	1244	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.G412E|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	412					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.G412E(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCGCAGGCCCCCGTAGGACAG	0.627																																							uc003jbe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GGG>GAG		solute carrier family 9 (sodium/hydrogen							43.0	44.0	43.0					5																	482784		2202	4299	6501	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482784C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1235G>A	5.37:g.482784C>T	ENSP00000264938:p.Gly412Glu					SLC9A3_uc011clx.1_Missense_Mutation_p.G412E	p.G412E	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1347	-			412					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1235G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024794	0.54683	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.18657	2.2;2.2	4.13	4.13	0.48395	Cation/H+ exchanger (1);	0.173370	0.51477	D	0.000100	T	0.56232	0.1971	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70706	-0.4798	10	0.87932	D	0	.	15.9847	0.80142	0.0:1.0:0.0:0.0	.	412;412	E9PF67;P48764	.;SL9A3_HUMAN	E	412	ENSP00000264938:G412E;ENSP00000422983:G412E	ENSP00000264938:G412E	G	-	2	0	SLC9A3	535784	1.000000	0.71417	0.351000	0.25721	0.072000	0.16883	5.798000	0.69095	1.836000	0.53414	0.561000	0.74099	GGG		0.627	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		7	24	0	0	0	0.00308	0	7	24				
ZDHHC11	79844	broad.mit.edu	37	5	850557	850557	+	Missense_Mutation	SNP	G	G	A	rs145802626	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:850557G>A	ENST00000283441.8	-	1	544	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.S54L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	54						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S54L(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GAAGGTGGCCGAGGAAAGGCC	0.582													g|||	6	0.00119808	0.0	0.0	5008	,	,		20412	0.006		0.0	False		,,,				2504	0.0						uc011cma.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(160-162)TCG>TTG		zinc finger, DHHC-type containing 11		A	LEU/SER	2,4402		0,2,2200	88.0	80.0	83.0		161	0.3	0.0	5	dbSNP_134	83	0,8600		0,0,4300	no	missense	ZDHHC11	NM_024786.2	145	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	54/413	850557	2,13002	2202	4300	6502	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:850557G>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.161C>T	5.37:g.850557G>A	ENSP00000283441:p.Ser54Leu					ZDHHC11_uc003jbj.2_5'Flank	p.S54L	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		1	545	-			54			Helical; (Potential).		Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.161C>T	CCDS3857.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	N	4.971	0.180309	0.09443	4.54E-4	0.0	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.19394	2.15;2.15	4.17	0.35	0.16037	.	.	.	.	.	T	0.09730	0.0239	N	0.11427	0.14	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	9	0.20519	T	0.43	-17.6305	7.6197	0.28179	0.7958:0.0:0.2042:0.0	.	54	Q9H8X9	ZDH11_HUMAN	L	54	ENSP00000397719:S54L;ENSP00000283441:S54L	ENSP00000283441:S54L	S	-	2	0	ZDHHC11	903557	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.393000	0.34497	-0.085000	0.12573	-1.300000	0.01332	TCG		0.582	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		9	48	0	0	0	0.004482	0	9	48				
BRD9	65980	broad.mit.edu	37	5	870664	870664	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:870664G>A	ENST00000467963.1	-	14	1615	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	BRD9_ENST00000388890.4_Silent_p.S367S|BRD9_ENST00000483173.1_Silent_p.S430S|BRD9_ENST00000323510.4_Silent_p.S387S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	483					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.S483S(1)|p.S387S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAACAGAGCTGCTGCTGTCTC	0.478																																							uc003jbq.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1447-1449)AGC>AGT		bromodomain containing 9 isoform 1							132.0	115.0	121.0					5																	870664		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:870664G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1449C>T	5.37:g.870664G>A						BRD9_uc003jbl.2_Silent_p.S367S|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.S430S|BRD9_uc003jbo.2_Silent_p.S387S|BRD9_uc003jbp.2_Silent_p.S144S	p.S483S	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		14	1616	-			483					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.1449C>T	CCDS34127.2																																																																																				0.478	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		15	38	0	0	0	0.003163	0	15	38				
ADAMTS16	170690	broad.mit.edu	37	5	5190192	5190192	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:5190192C>A	ENST00000274181.7	+	7	1294	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L386M	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L386M(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGCCATCTTACTGACTGGTCT	0.527																																							uc003jdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1156-1158)CTG>ATG		ADAM metallopeptidase with thrombospondin type 1							157.0	155.0	155.0					5																	5190192		2060	4193	6253	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190192C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1156C>A	5.37:g.5190192C>A	ENSP00000274181:p.Leu386Met					ADAMTS16_uc003jdk.1_Missense_Mutation_p.L386M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L386M	p.L386M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			7	1294	+			386			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1156C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923856	0.73213	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.73152	-0.72;-0.72	5.37	5.37	0.77165	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	D	0.83496	0.5267	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	1.0;1.0;1.0	D	0.85275	0.1058	10	0.72032	D	0.01	.	12.0679	0.53598	0.0:0.9172:0.0:0.0828	.	386;386;386	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	386	ENSP00000274181:L386M;ENSP00000421631:L386M	ENSP00000274181:L386M	L	+	1	2	ADAMTS16	5243192	1.000000	0.71417	0.487000	0.27428	0.903000	0.53119	5.610000	0.67668	2.510000	0.84645	0.650000	0.86243	CTG		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		17	88	1	0	0.00498961	0.00499	0.00529692	17	88				
SEMA5A	9037	broad.mit.edu	37	5	9122842	9122842	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:9122842G>A	ENST00000382496.5	-	14	2372	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S		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	569	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.S569S(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						GGCTGTCGCAGGAGCGGGTTC	0.652																																							uc003jek.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1705-1707)TCC>TCT		semaphorin 5A precursor							53.0	57.0	56.0					5																	9122842		2203	4297	6500	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122842G>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.1707C>T	5.37:g.9122842G>A							p.S569S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			14	2419	-			569			Extracellular (Potential).|TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1707C>T	CCDS3875.1																																																																																				0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	75	0	0	0	0.005443	0	12	75				
DNAH5	1767	broad.mit.edu	37	5	13824339	13824339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:13824339C>A	ENST00000265104.4	-	39	6652	c.6548G>T	c.(6547-6549)cGt>cTt	p.R2183L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2183					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2183L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTAGTACACGCATGACAAT	0.448									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6547-6549)CGT>CTT		dynein, axonemal, heavy chain 5							134.0	117.0	123.0					5																	13824339		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13824339C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6548G>T	5.37:g.13824339C>A	ENSP00000265104:p.Arg2183Leu						p.R2183L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			39	6590	-	Lung NSC(4;0.00476)		2183					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6548G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190606	0.94923	.	.	ENSG00000039139	ENST00000265104	T	0.32023	1.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73411	-0.3991	10	0.54805	T	0.06	.	19.8904	0.96928	0.0:1.0:0.0:0.0	.	2183	Q8TE73	DYH5_HUMAN	L	2183	ENSP00000265104:R2183L	ENSP00000265104:R2183L	R	-	2	0	DNAH5	13877339	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	7.818000	0.86416	2.697000	0.92050	0.650000	0.86243	CGT		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	67	1	0	5.26018e-13	0.001882	7.55553e-13	21	67				
FBXL7	23194	broad.mit.edu	37	5	15928063	15928063	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:15928063C>A	ENST00000504595.1	+	3	673	c.192C>A	c.(190-192)ctC>ctA	p.L64L	FBXL7_ENST00000510662.1_Silent_p.L17L|FBXL7_ENST00000329673.7_Silent_p.L52L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	64					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.L64L(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						CACCGAATCTCCCAGGATTTC	0.607																																							uc003jfn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(190-192)CTC>CTA		F-box and leucine-rich repeat protein 7							78.0	89.0	86.0					5																	15928063		2075	4203	6278	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928063C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.192C>A	5.37:g.15928063C>A							p.L64L	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	673	+			64					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.192C>A	CCDS54833.1																																																																																				0.607	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	100	1	0	4.68919e-08	0.008291	5.93505e-08	7	100				
NIPBL	25836	broad.mit.edu	37	5	36985213	36985213	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:36985213T>C	ENST00000282516.8	+	10	2430	c.1931T>C	c.(1930-1932)gTt>gCt	p.V644A	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V644A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	644					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.V644A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAACTAAAGTTGAGACCCAA	0.338																																							uc003jkl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1930-1932)GTT>GCT		delangin isoform A							83.0	85.0	84.0					5																	36985213		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985213T>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1931T>C	5.37:g.36985213T>C	ENSP00000282516:p.Val644Ala					NIPBL_uc003jkk.3_Missense_Mutation_p.V644A|NIPBL_uc003jkm.1_Missense_Mutation_p.V523A	p.V644A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2430	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		644					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1931T>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.921276	0.00498	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92858	-3.12;-3.12	5.68	-3.0	0.05480	.	1.188320	0.05905	N	0.630645	T	0.75576	0.3868	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.67043	-0.5770	10	0.06891	T	0.86	.	0.0234	0.00003	0.2736:0.2098:0.2009:0.3157	.	644;644	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	644	ENSP00000282516:V644A;ENSP00000406266:V644A	ENSP00000282516:V644A	V	+	2	0	NIPBL	37020970	0.001000	0.12720	0.020000	0.16555	0.437000	0.31866	-1.336000	0.02660	-0.303000	0.08856	0.528000	0.53228	GTT		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		17	89	0	0	0	0.004007	0	17	89				
EGFLAM	133584	broad.mit.edu	37	5	38370435	38370435	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:38370435C>T	ENST00000354891.3	+	6	929	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R195W	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R195W(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATCCATGAGCGGATCCAGAT	0.498																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(583-585)CGG>TGG		EGF-like, fibronectin type III and laminin G							98.0	93.0	94.0					5																	38370435		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370435C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.583C>T	5.37:g.38370435C>T	ENSP00000346964:p.Arg195Trp					EGFLAM_uc003jlb.1_Missense_Mutation_p.R195W	p.R195W	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			6	907	+	all_lung(31;0.000385)		195			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.583C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147709	0.94603	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.498887	0.22399	N	0.060569	T	0.67144	0.2862	M	0.66439	2.03	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.54270	0.747;0.631	T	0.69176	-0.5214	10	0.72032	D	0.01	-6.8536	19.688	0.95987	0.0:1.0:0.0:0.0	.	195;195	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	W	195	ENSP00000346964:R195W;ENSP00000313084:R195W	ENSP00000313084:R195W	R	+	1	2	EGFLAM	38406192	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	5.159000	0.64923	2.756000	0.94617	0.561000	0.74099	CGG		0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	71	0	0	0	0.008291	0	10	71				
EGFLAM	133584	broad.mit.edu	37	5	38445800	38445800	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:38445800C>G	ENST00000354891.3	+	18	2830	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000514476.1_5'Flank|EGFLAM_ENST00000506135.1_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	828					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.L828L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTACTGCCTCAATAGTAAGT	0.567																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(3)|skin(3)|ovary(1)	7						c.(2482-2484)CTC>CTG		EGF-like, fibronectin type III and laminin G							243.0	213.0	222.0					5																	38445800		876	1991	2867	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38445800C>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2484C>G	5.37:g.38445800C>G						EGFLAM_uc003jlb.1_Intron|EGFLAM_uc003jle.1_Intron|EGFLAM_uc003jlf.1_Intron|EGFLAM_uc003jlg.1_5'UTR	p.L828L	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			18	2808	+	all_lung(31;0.000385)		828					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2484C>G	CCDS56363.1																																																																																				0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		28	158	0	0	0	0.007291	0	28	158				
FAM81B	153643	broad.mit.edu	37	5	94727200	94727200	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:94727200C>A	ENST00000283357.5	+	1	153	c.107C>A	c.(106-108)gCa>gAa	p.A36E		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	36						nucleus (GO:0005634)		p.A36E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCTGGAAAAGCAAGCATCATG	0.299																																							uc003kla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(106-108)GCA>GAA		hypothetical protein LOC153643							65.0	65.0	65.0					5																	94727200		1816	4072	5888	SO:0001583	missense	153643							g.chr5:94727200C>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.107C>A	5.37:g.94727200C>A	ENSP00000283357:p.Ala36Glu					FAM81B_uc010jbe.1_5'Flank	p.A36E	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	1	153	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	36						Missense_Mutation	SNP	ENST00000283357.5	37	c.107C>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309501	0.10733	.	.	ENSG00000153347	ENST00000283357	T	0.21361	2.01	4.59	1.84	0.25277	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.31641	-0.9936	9	0.38643	T	0.18	.	6.5224	0.22283	0.0:0.6952:0.0:0.3048	.	36	Q96LP2	FA81B_HUMAN	E	36	ENSP00000283357:A36E	ENSP00000283357:A36E	A	+	2	0	FAM81B	94752956	0.006000	0.16342	0.012000	0.15200	0.297000	0.27493	0.282000	0.18829	0.277000	0.22141	0.563000	0.77884	GCA		0.299	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		13	95	1	0	2.32078e-09	0.003163	3.06421e-09	13	95				
PDLIM4	8572	broad.mit.edu	37	5	131606626	131606626	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:131606626A>T	ENST00000253754.3	+	4	410	c.346A>T	c.(346-348)Agc>Tgc	p.S116C	PDLIM4_ENST00000379018.3_Missense_Mutation_p.S116C|PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	116							zinc ion binding (GO:0008270)	p.S116C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAACAACCAGCAGGCGGCC	0.622																																							uc003kwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)AGC>TGC		PDZ and LIM domain 4 isoform 1							76.0	84.0	81.0					5																	131606626		2203	4300	6503	SO:0001583	missense	8572						protein binding|zinc ion binding	g.chr5:131606626A>T	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.346A>T	5.37:g.131606626A>T	ENSP00000253754:p.Ser116Cys					uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.S116C|PDLIM4_uc003kwo.2_Missense_Mutation_p.S116C	p.S116C	NM_003687	NP_003678	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	423	+			116					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	c.346A>T	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714974	0.48622	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.39406	2.59;1.92;1.08	5.7	5.7	0.88788	.	0.422354	0.27027	N	0.021299	T	0.60612	0.2282	M	0.61703	1.905	0.38862	D	0.956506	D;D;D	0.89917	0.997;1.0;0.993	P;D;P	0.87578	0.871;0.998;0.628	T	0.62258	-0.6892	10	0.40728	T	0.16	-31.2047	13.3373	0.60524	1.0:0.0:0.0:0.0	.	116;57;116	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	C	116;116;57	ENSP00000253754:S116C;ENSP00000368303:S116C;ENSP00000411753:S57C	ENSP00000253754:S116C	S	+	1	0	PDLIM4	131634525	1.000000	0.71417	0.982000	0.44146	0.346000	0.29079	4.820000	0.62671	2.172000	0.68678	0.374000	0.22700	AGC		0.622	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		25	100	0	0	0	0.002096	0	25	100				
PSD2	84249	broad.mit.edu	37	5	139216500	139216500	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:139216500T>C	ENST00000274710.3	+	10	1713	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	503					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.L503P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCCTTCCTGGATGTCCCA	0.592																																							uc003leu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)CTG>CCG		pleckstrin and Sec7 domain containing 2							169.0	149.0	156.0					5																	139216500		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216500T>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1508T>C	5.37:g.139216500T>C	ENSP00000274710:p.Leu503Pro						p.L503P	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1713	+			503					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1508T>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461819	0.84425	.	.	ENSG00000146005	ENST00000274710	T	0.16597	2.33	5.27	5.27	0.74061	.	0.074320	0.56097	D	0.000027	T	0.39733	0.1089	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	T	0.26608	-1.0098	10	0.87932	D	0	.	15.1724	0.72884	0.0:0.0:0.0:1.0	.	503	Q9BQI7	PSD2_HUMAN	P	503	ENSP00000274710:L503P	ENSP00000274710:L503P	L	+	2	0	PSD2	139196684	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.629000	0.83207	2.003000	0.58678	0.397000	0.26171	CTG		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		39	138	0	0	0	0.002522	0	39	138				
PCDHA3	56145	broad.mit.edu	37	5	140181570	140181570	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140181570C>T	ENST00000522353.2	+	1	788	c.788C>T	c.(787-789)aCc>aTc	p.T263I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T263I	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	263	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.T263I(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)			CTAGTGGTGACCGTTAACGCC	0.408																																							uc003lhf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(787-789)ACC>ATC		protocadherin alpha 3 isoform 1 precursor							68.0	64.0	65.0					5																	140181570		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181570C>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.788C>T	5.37:g.140181570C>T	ENSP00000429808:p.Thr263Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T263I	p.T263I	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	788	+			263			Cadherin 3.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.788C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	5.532	0.283092	0.10458	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.54866	0.55;0.55	4.86	-9.71	0.00518	Cadherin (4);Cadherin-like (1);	1.435670	0.05428	N	0.545408	T	0.49575	0.1565	M	0.75884	2.315	0.09310	N	1	B;B	0.17465	0.008;0.022	B;B	0.33392	0.024;0.163	T	0.56300	-0.8002	10	0.62326	D	0.03	.	5.8973	0.18947	0.2596:0.5031:0.1269:0.1104	.	263;263	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	I	263	ENSP00000429808:T263I;ENSP00000434086:T263I	ENSP00000429808:T263I	T	+	2	0	PCDHA3	140161754	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-3.335000	0.00508	-1.725000	0.01371	-0.444000	0.05651	ACC		0.408	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		25	83	0	0	0	0.00333	0	25	83				
PCDHA6	56142	broad.mit.edu	37	5	140207847	140207847	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140207847G>T	ENST00000529310.1	+	1	285	c.171G>T	c.(169-171)gcG>gcT	p.A57A	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A57A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A57A(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.622																																							uc003lho.2		NA																	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(169-171)GCG>GCT		protocadherin alpha 6 isoform 1 precursor							58.0	70.0	66.0					5																	140207847		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207847G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.171G>T	5.37:g.140207847G>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_Silent_p.A57A|PCDHA6_uc011dab.1_Silent_p.A57A	p.A57A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	198	+			57			Cadherin 1.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.171G>T	CCDS47281.1																																																																																				0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		10	105	1	0	2.27111e-07	0.001368	2.78527e-07	10	105				
PCDHA7	56141	broad.mit.edu	37	5	140215062	140215062	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140215062C>A	ENST00000525929.1	+	1	1094	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365Q|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	365	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.P365Q(4)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCCAACCAGGTACCGTC	0.507																																					NSCLC(160;258 2013 5070 22440 28951)	NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)	4						c.(1093-1095)CCA>CAA		protocadherin alpha 7 isoform 1 precursor							167.0	154.0	158.0					5																	140215062		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215062C>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1094C>A	5.37:g.140215062C>A	ENSP00000436426:p.Pro365Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P365Q	p.P365Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1094	+			365			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1094C>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.991	-0.694016	0.03303	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01665	4.7;4.7	4.04	0.0109	0.14085	Cadherin (3);Cadherin-like (1);	2.502700	0.04220	U	0.333392	T	0.04137	0.0115	M	0.73753	2.245	0.09310	N	1	B;B	0.26845	0.106;0.161	B;B	0.33392	0.159;0.163	T	0.44922	-0.9296	10	0.54805	T	0.06	.	5.7003	0.17879	0.1241:0.5259:0.0:0.3499	.	365;365	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	Q	365	ENSP00000436426:P365Q;ENSP00000367365:P365Q	ENSP00000367365:P365Q	P	+	2	0	PCDHA7	140195246	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-1.388000	0.02533	-0.277000	0.09193	0.305000	0.20034	CCA		0.507	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		27	144	1	0	2.12542e-12	0.00632	3.02083e-12	27	144				
PCDHB4	56131	broad.mit.edu	37	5	140503432	140503432	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140503432G>C	ENST00000194152.1	+	1	1852	c.1852G>C	c.(1852-1854)Gcg>Ccg	p.A618P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A618P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGTGTGGGCGCACAATGG	0.687																																							uc003lip.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1852-1854)GCG>CCG		protocadherin beta 4 precursor							26.0	26.0	26.0					5																	140503432		2094	4130	6224	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503432G>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1852G>C	5.37:g.140503432G>C	ENSP00000194152:p.Ala618Pro						p.A618P	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1852	+			618			Cadherin 6.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1852G>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014468	0.35511	.	.	ENSG00000081818	ENST00000194152	T	0.48522	0.81	4.12	2.24	0.28232	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	N	0.11255	0.115	0.32198	N	0.578178	B	0.20550	0.046	B	0.33750	0.169	T	0.43163	-0.9408	9	0.40728	T	0.16	.	13.622	0.62143	0.0:0.4544:0.5456:0.0	.	618	Q9Y5E5	PCDB4_HUMAN	P	618	ENSP00000194152:A618P	ENSP00000194152:A618P	A	+	1	0	PCDHB4	140483616	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.859000	0.04277	0.470000	0.27294	0.485000	0.47835	GCG		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		11	75	0	0	0	0.001368	0	11	75				
PCDHB7	56129	broad.mit.edu	37	5	140552708	140552708	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140552708C>A	ENST00000231137.3	+	1	466	c.292C>A	c.(292-294)Ccc>Acc	p.P98T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	98	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.P98T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTGTGGCCCCAGAGAGCC	0.443																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(292-294)CCC>ACC		protocadherin beta 7 precursor							84.0	89.0	87.0					5																	140552708		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552708C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.292C>A	5.37:g.140552708C>A	ENSP00000231137:p.Pro98Thr						p.P98T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	466	+			98			Extracellular (Potential).|Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.292C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	6.512	0.462698	0.12402	.	.	ENSG00000113212	ENST00000231137	T	0.26373	1.74	4.61	3.74	0.42951	Cadherin, N-terminal (1);	.	.	.	.	T	0.17408	0.0418	L	0.31371	0.925	0.09310	N	1	B	0.23128	0.08	B	0.24006	0.05	T	0.25847	-1.0120	9	0.21014	T	0.42	.	7.6866	0.28544	0.1617:0.7531:0.0:0.0851	.	98	Q9Y5E2	PCDB7_HUMAN	T	98	ENSP00000231137:P98T	ENSP00000231137:P98T	P	+	1	0	PCDHB7	140532892	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-1.160000	0.03147	1.042000	0.40150	0.655000	0.94253	CCC		0.443	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		10	139	1	0	1.58986e-06	0.008291	1.91511e-06	10	139				
PCDHB16	57717	broad.mit.edu	37	5	140567414	140567414	+	IGR	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140567414C>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGATCAGCTCCAACTCTTTTT	0.418																																							uc003liw.1		NA																	0					0						c.(520-522)TCC>TCA		protocadherin beta 9 precursor							141.0	157.0	152.0					5																	140567414		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567414C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567414C>A							p.S174S	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	522	+			174			Extracellular (Potential).|Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.522C>A	CCDS4251.1																																																																																				0.418	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		30	242	1	0	3.61848e-18	0.007835	5.471e-18	30	242				
PCDHB16	57717	broad.mit.edu	37	5	140567665	140567665	+	IGR	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140567665G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCAGTAGGGTCCCTTATT	0.448																																							uc003liw.1		NA																	0					0						c.(772-774)GGG>GAG		protocadherin beta 9 precursor							29.0	33.0	31.0					5																	140567665		2124	4270	6394	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567665G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567665G>A							p.G258E	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	773	+			258			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.773G>A	CCDS4251.1																																																																																				0.448	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		3	24	0	0	0	0.004672	0	3	24				
PCDHGA1	56114	broad.mit.edu	37	5	140710430	140710430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140710430C>A	ENST00000517417.1	+	1	179	c.179C>A	c.(178-180)gCa>gAa	p.A60E	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A60E	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	60	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.A60E(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCTGGCAGATGGCGGA	0.582																																							uc003lji.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(178-180)GCA>GAA		protocadherin gamma subfamily A, 1 isoform 1							102.0	109.0	107.0					5																	140710430		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710430C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.179C>A	5.37:g.140710430C>A	ENSP00000431083:p.Ala60Glu					PCDHGA1_uc011dan.1_Missense_Mutation_p.A60E	p.A60E	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	179	+			60			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.179C>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	8.182	0.794158	0.16327	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.16457	2.34;2.34	4.37	-0.0261	0.13932	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.893166	0.09234	U	0.830148	T	0.17365	0.0417	M	0.62723	1.935	0.09310	N	1	B;B	0.17852	0.011;0.024	B;B	0.21151	0.029;0.033	T	0.33163	-0.9879	10	0.48119	T	0.1	.	5.4256	0.16423	0.1748:0.6002:0.0:0.2249	.	60;60	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	E	60	ENSP00000431083:A60E;ENSP00000367345:A60E	ENSP00000367345:A60E	A	+	2	0	PCDHGA1	140690614	0.000000	0.05858	0.024000	0.17045	0.819000	0.46315	-0.418000	0.07080	-0.151000	0.11176	0.655000	0.94253	GCA		0.582	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		23	140	1	0	3.01185e-09	0.003954	3.94915e-09	23	140				
PCDHGA3	56112	broad.mit.edu	37	5	140725293	140725293	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140725293C>T	ENST00000253812.6	+	1	1693	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	565					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P565S(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTACCCCGCCCTCCC	0.662																																							uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1693-1695)CCC>TCC		protocadherin gamma subfamily A, 3 isoform 1							114.0	125.0	121.0					5																	140725293		2203	4298	6501	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725293C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1693C>T	5.37:g.140725293C>T	ENSP00000253812:p.Pro565Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.P325S|PCDHGA3_uc011dap.1_Missense_Mutation_p.P565S	p.P565S	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1693	+			565			Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1693C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	16.55	3.154586	0.57259	.	.	ENSG00000254245	ENST00000253812	T	0.60040	0.22	5.42	5.42	0.78866	Cadherin-like (1);	0.000000	0.33199	U	0.005178	T	0.73729	0.3624	L	0.55990	1.75	0.44694	D	0.997689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.75249	-0.3384	10	0.87932	D	0	.	19.2021	0.93714	0.0:1.0:0.0:0.0	.	565;565	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	S	565	ENSP00000253812:P565S	ENSP00000253812:P565S	P	+	1	0	PCDHGA3	140705477	1.000000	0.71417	0.960000	0.40013	0.143000	0.21401	5.999000	0.70665	2.700000	0.92200	0.563000	0.77884	CCC		0.662	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		31	194	0	0	0	0.003755	0	31	194				
PCDHGB2	56103	broad.mit.edu	37	5	140740422	140740422	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140740422A>C	ENST00000522605.1	+	1	720	c.720A>C	c.(718-720)ccA>ccC	p.P240P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_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	240	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.P240P(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)			ATAACCCTCCAGTGTTCAGCC	0.562																																							uc003ljs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CCA>CCC		protocadherin gamma subfamily B, 2 isoform 1							83.0	84.0	84.0					5																	140740422		2033	4187	6220	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740422A>C	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.720A>C	5.37:g.140740422A>C						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.P240P	p.P240P	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	720	+			240			Extracellular (Potential).|Cadherin 2.		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.720A>C	CCDS54924.1																																																																																				0.562	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		20	62	0	0	0	0.001882	0	20	62				
PCDHGA5	56110	broad.mit.edu	37	5	140745978	140745978	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140745978T>C	ENST00000518069.1	+	1	2081	c.2081T>C	c.(2080-2082)gTg>gCg	p.V694A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	694					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V694A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATCTTGTGGTGGCAGTG	0.597																																							uc003lju.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2080-2082)GTG>GCG		protocadherin gamma subfamily A, 5 isoform 1							256.0	271.0	266.0					5																	140745978		2203	4300	6503	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745978T>C	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2081T>C	5.37:g.140745978T>C	ENSP00000429834:p.Val694Ala					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_uc011das.1_Missense_Mutation_p.V694A	p.V694A	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2081	+			694			Helical; (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.2081T>C	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	15.66	2.899536	0.52227	.	.	ENSG00000253485	ENST00000518069	T	0.46451	0.87	4.93	4.93	0.64822	.	.	.	.	.	T	0.73094	0.3543	H	0.94423	3.535	0.27012	N	0.964671	D;D	0.71674	0.998;0.992	D;D	0.68353	0.953;0.957	T	0.71672	-0.4522	9	0.87932	D	0	.	14.5504	0.68061	0.0:0.0:0.0:1.0	.	694;694	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	A	694	ENSP00000429834:V694A	ENSP00000429834:V694A	V	+	2	0	PCDHGA5	140726162	0.975000	0.34042	1.000000	0.80357	0.166000	0.22503	7.655000	0.83696	1.979000	0.57680	0.460000	0.39030	GTG		0.597	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		14	370	0	0	0	0.008871	0	14	370				
ARHGAP26	23092	broad.mit.edu	37	5	142586820	142586820	+	Silent	SNP	G	G	A	rs79503222	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:142586820G>A	ENST00000274498.4	+	21	2424	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000378004.3_Silent_p.A682A	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	682	Ser-rich.				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.A682A(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)			TGTTCTCGGCGCCATCCAGCC	0.557													G|||	7	0.00139776	0.0	0.0	5008	,	,		20136	0.0069		0.0	False		,,,				2504	0.0						uc011dbj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2044-2046)GCG>GCA		GTPase regulator associated with the focal							174.0	135.0	148.0					5																	142586820		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:142586820G>A	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.2046G>A	5.37:g.142586820G>A						ARHGAP26_uc003lmt.2_Silent_p.A682A|ARHGAP26_uc003lmw.2_Intron	p.A682A	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2081	+		all_hematologic(541;0.0416)	682			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.2046G>A	CCDS4277.1	5|5	0.0022893772893772895|0.0022893772893772895	0|0	0.0|0.0	0|0	0.0|0.0	5|5	0.008741258741258742|0.008741258741258742	0|0	0.0|0.0	G|G	11.06|11.06	1.528457|1.528457	0.27299|0.27299	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000421521|ENST00000443674;ENST00000425417	T|.	0.17854|.	2.25|.	6.07|6.07	2.54|2.54	0.30619|0.30619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46014|0.46014	0.1371|0.1371	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35251|0.35251	-0.9796|-0.9796	7|4	0.87932|.	D|.	0|.	.|.	5.9365|5.9365	0.19169|0.19169	0.2862:0.0:0.5924:0.1214|0.2862:0.0:0.5924:0.1214	.|.	.|.	.|.	.|.	T|H	20|301;19	ENSP00000389137:A20T|.	ENSP00000389137:A20T|.	A|R	+|+	1|2	0|0	ARHGAP26|ARHGAP26	142567013|142567013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.574000|1.574000	0.36482|0.36482	0.192000|0.192000	0.20272|0.20272	-0.150000|-0.150000	0.13652|0.13652	GCC|CGC		0.557	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		6	109	0	0	0	0.00308	0	6	109				
FBXO38	81545	broad.mit.edu	37	5	147818033	147818033	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:147818033G>A	ENST00000340253.5	+	18	3164	c.2996G>A	c.(2995-2997)cGc>cAc	p.R999H	FBXO38_ENST00000394370.3_Missense_Mutation_p.R924H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R754H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R754H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	999					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R999H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGAAACCGCATCATATAC	0.408																																							uc003lpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2995-2997)CGC>CAC		F-box protein 38 isoform b							166.0	149.0	154.0					5																	147818033		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147818033G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2996G>A	5.37:g.147818033G>A	ENSP00000342023:p.Arg999His					FBXO38_uc003lpg.1_Missense_Mutation_p.R924H|FBXO38_uc003lph.2_Missense_Mutation_p.R754H	p.R999H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	3116	+			999					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2996G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.471426	0.96274	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.43294	0.95;1.05;1.01;1.05	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.34521	1.04	0.44207	D	0.99703	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.998	T	0.56792	-0.7920	10	0.87932	D	0	-12.6241	19.1458	0.93467	0.0:0.0:1.0:0.0	.	754;924;999	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	999;754;924;754	ENSP00000342023:R999H;ENSP00000296701:R754H;ENSP00000377895:R924H;ENSP00000426410:R754H	ENSP00000296701:R754H	R	+	2	0	FBXO38	147798226	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.202000	0.95026	2.941000	0.99782	0.655000	0.94253	CGC		0.408	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		23	71	0	0	0	0.00333	0	23	71				
PPARGC1B	133522	broad.mit.edu	37	5	149216497	149216497	+	Missense_Mutation	SNP	G	G	A	rs45628534	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:149216497G>A	ENST00000309241.5	+	8	2511	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V763I|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V827I|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V788I	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	827					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.V827I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ggaCTCAGGGGTCAGCCCCAC	0.627																																							uc003lrc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2479-2481)GTC>ATC		peroxisome proliferator-activated receptor							70.0	68.0	69.0					5																	149216497		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216497G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2479G>A	5.37:g.149216497G>A	ENSP00000312649:p.Val827Ile					PPARGC1B_uc003lrb.1_Missense_Mutation_p.V827I|PPARGC1B_uc003lrd.2_Missense_Mutation_p.V788I|PPARGC1B_uc003lrf.2_Missense_Mutation_p.V806I|PPARGC1B_uc003lre.1_Missense_Mutation_p.V806I	p.V827I	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2521	+			827					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2479G>A	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.328466|2.328466	0.41197|0.41197	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T|T;T;T;T	0.15256|0.09538	2.44|2.98;2.97;2.97;2.98	5.34|5.34	4.47|4.47	0.54385|0.54385	.|.	.|0.722205	.|0.12886	.|N	.|0.431041	T|T	0.22282|0.22282	0.0537|0.0537	M|M	0.68952|0.68952	2.095|2.095	0.25674|0.25674	N|N	0.985868|0.985868	.|D;P;D;D;P	.|0.57571	.|0.98;0.884;0.96;0.965;0.48	.|P;B;P;P;B	.|0.55577	.|0.779;0.292;0.578;0.606;0.187	T|T	0.09079|0.09079	-1.0691|-1.0691	7|10	0.13108|0.42905	T|T	0.6|0.14	-17.1242|-17.1242	7.7126|7.7126	0.28686|0.28686	0.0835:0.0:0.7546:0.1619|0.0835:0.0:0.7546:0.1619	.|.	.|806;806;788;827;827	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	D|I	513|788;827;827;763	ENSP00000409364:G513D|ENSP00000353638:V788I;ENSP00000377855:V827I;ENSP00000312649:V827I;ENSP00000384403:V763I	ENSP00000409364:G513D|ENSP00000312649:V827I	G|V	+|+	2|1	0|0	PPARGC1B|PPARGC1B	149196690|149196690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.392000|0.392000	0.30506|0.30506	1.271000|1.271000	0.33098|0.33098	1.247000|1.247000	0.43917|0.43917	0.462000|0.462000	0.41574|0.41574	GGT|GTC		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		5	99	0	0	0	0.000602	0	5	99				
FAT2	2196	broad.mit.edu	37	5	150947284	150947284	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:150947284A>G	ENST00000261800.5	-	1	1221	c.1209T>C	c.(1207-1209)aaT>aaC	p.N403N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	403	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N403N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAATCCTACATTCTCTGAAG	0.502																																							uc003lue.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1207-1209)AAT>AAC		FAT tumor suppressor 2 precursor							82.0	80.0	81.0					5																	150947284		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947284A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1209T>C	5.37:g.150947284A>G						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.N403N	p.N403N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1222	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	403			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1209T>C	CCDS4317.1																																																																																				0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		14	77	0	0	0	0.00245	0	14	77				
G3BP1	10146	broad.mit.edu	37	5	151173720	151173720	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:151173720G>T	ENST00000394123.3	+	5	497	c.352G>T	c.(352-354)Ggg>Tgg	p.G118W	G3BP1_ENST00000356245.3_Splice_Site_p.G118W|G3BP1_ENST00000543466.1_Intron			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	118	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G118W(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGCATTGCAGGGGTCTGTTGC	0.413																																							uc003lun.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(352-354)GGG>TGG		Ras-GTPase-activating protein SH3-domain-binding							107.0	110.0	109.0					5																	151173720		2203	4300	6503	SO:0001630	splice_region_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151173720G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.352-1G>T	5.37:g.151173720G>T						G3BP1_uc003lum.2_Missense_Mutation_p.G118W|G3BP1_uc011dcu.1_Intron|G3BP1_uc010jhz.2_Intron|G3BP1_uc003luq.2_5'Flank	p.G118W	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		5	523	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	118			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.352G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588285	0.86851	.	.	ENSG00000145907	ENST00000394123;ENST00000356245;ENST00000507878	T;T	0.74315	-0.83;-0.83	5.27	5.27	0.74061	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89865	0.4019	9	.	.	.	-18.0596	19.2393	0.93875	0.0:0.0:1.0:0.0	.	118	Q13283	G3BP1_HUMAN	W	118;118;128	ENSP00000377681:G118W;ENSP00000348578:G118W	.	G	+	1	0	G3BP1	151153913	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.568000	0.98166	2.621000	0.88768	0.462000	0.41574	GGG		0.413	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	Missense_Mutation	6	106	1	0	0.00198382	0.001984	0.00213469	6	106				
SGCD	6444	broad.mit.edu	37	5	156186354	156186354	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:156186354G>T	ENST00000435422.3	+	8	1310	c.823G>T	c.(823-825)Gca>Tca	p.A275S	SGCD_ENST00000337851.4_Missense_Mutation_p.A276S	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	275					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A276S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTCTCAGGCAGGAGCTGG	0.498																																							uc003lwd.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GCA>TCA		delta-sarcoglycan isoform 3							133.0	128.0	129.0					5																	156186354		1967	4167	6134	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186354G>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.823G>T	5.37:g.156186354G>T	ENSP00000403003:p.Ala275Ser					SGCD_uc003lwc.3_Missense_Mutation_p.A276S	p.A275S	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1299	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	275			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.823G>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192050	0.94923	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.94758	-3.51;-3.51	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.96608	0.8893	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	D	0.96349	0.9257	10	0.46703	T	0.11	-7.866	18.5207	0.90951	0.0:0.0:1.0:0.0	.	275;276	Q92629;Q92629-2	SGCD_HUMAN;.	S	275;276	ENSP00000403003:A275S;ENSP00000338343:A276S	ENSP00000338343:A276S	A	+	1	0	SGCD	156118932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.447000	0.82792	0.655000	0.94253	GCA		0.498	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			13	100	1	0	6.31663e-08	0.003163	7.95241e-08	13	100				
CPEB4	80315	broad.mit.edu	37	5	173376573	173376573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:173376573G>T	ENST00000265085.5	+	6	2973	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	CPEB4_ENST00000517880.1_Nonsense_Mutation_p.E100*|CPEB4_ENST00000522336.1_Nonsense_Mutation_p.E117*|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.E490*|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.E482*|CPEB4_ENST00000519835.1_Nonsense_Mutation_p.E482*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	507	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E507*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCATAAAGCTGAGAGCAAATC	0.323																																							uc003mcs.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1519-1521)GAG>TAG		cytoplasmic polyadenylation element binding							94.0	93.0	93.0					5																	173376573		2203	4300	6503	SO:0001587	stop_gained	80315						nucleotide binding|RNA binding	g.chr5:173376573G>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1519G>T	5.37:g.173376573G>T	ENSP00000265085:p.Glu507*					CPEB4_uc010jju.1_Nonsense_Mutation_p.E482*|CPEB4_uc010jjv.2_Nonsense_Mutation_p.E490*|CPEB4_uc011dfg.1_Nonsense_Mutation_p.E482*|CPEB4_uc003mct.3_Nonsense_Mutation_p.E117*|CPEB4_uc003mcu.3_Nonsense_Mutation_p.E100*	p.E507*	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		6	2925	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	507			RRM 1.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Nonsense_Mutation	SNP	ENST00000265085.5	37	c.1519G>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	37	6.159830	0.97334	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	.	.	.	5.9	5.9	0.94986	.	0.045348	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.6345	20.2683	0.98464	0.0:0.0:1.0:0.0	.	.	.	.	X	507;482;490;482;117;100	.	ENSP00000265085:E507X	E	+	1	0	CPEB4	173309179	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.837000	0.99465	2.800000	0.96347	0.591000	0.81541	GAG		0.323	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		6	79	1	0	0.00198382	0.001984	0.00213469	6	79				
SNCB	6620	broad.mit.edu	37	5	176053505	176053505	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:176053505G>T	ENST00000310112.3	-	5	426	c.176C>A	c.(175-177)aCc>aAc	p.T59N	SNCB_ENST00000510387.1_Missense_Mutation_p.T59N|SNCB_ENST00000393693.2_Missense_Mutation_p.T59N|SNCB_ENST00000506696.1_Missense_Mutation_p.T59N|MIR4281_ENST00000580852.1_RNA	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	59	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)	p.T59N(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTTCCTTGGTTTTTTCAGC	0.592																																							uc003mep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)ACC>AAC		beta-synuclein							76.0	68.0	71.0					5																	176053505		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053505G>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.176C>A	5.37:g.176053505G>T	ENSP00000308057:p.Thr59Asn					SNCB_uc003meq.2_Missense_Mutation_p.T59N|SNCB_uc010jke.1_Missense_Mutation_p.P127T	p.T59N	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	619	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	59			4.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.176C>A	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614236	0.66672	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	4.36	4.36	0.52297	.	0.257566	0.36409	N	0.002611	D	0.87613	0.6221	M	0.72479	2.2	0.54753	D	0.999985	P	0.38110	0.618	B	0.39119	0.291	D	0.89916	0.4055	10	0.87932	D	0	-16.2728	17.4511	0.87592	0.0:0.0:1.0:0.0	.	59	Q16143	SYUB_HUMAN	N	59	ENSP00000308057:T59N;ENSP00000377296:T59N;ENSP00000424073:T59N;ENSP00000422223:T59N	ENSP00000308057:T59N	T	-	2	0	SNCB	175986111	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.489000	0.90461	2.434000	0.82447	0.462000	0.41574	ACC		0.592	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		4	63	1	0	0.00909568	0.009096	0.00959144	4	63				
TRIM52	84851	broad.mit.edu	37	5	180687616	180687616	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:180687616C>T	ENST00000327767.4	-	1	503	c.199G>A	c.(199-201)Gag>Aag	p.E67K	TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	67	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E67K(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		tcctcgtcctcctcctcctcc	0.582																																							uc003mnp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GAG>AAG		tripartite motif-containing 52							134.0	98.0	110.0					5																	180687616		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687616C>T		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.199G>A	5.37:g.180687616C>T	ENSP00000332152:p.Glu67Lys					uc003mnq.2_5'Flank	p.E67K	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	504	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	67			Glu-rich.			Missense_Mutation	SNP	ENST00000327767.4	37	c.199G>A	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	c	7.544	0.661346	0.14645	.	.	ENSG00000183718	ENST00000327767	T	0.22945	1.93	3.49	1.54	0.23209	Zinc finger, RING-type (1);	.	.	.	.	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.30943	0.122	T	0.15235	-1.0444	8	.	.	.	.	5.2304	0.15418	0.0:0.663:0.2107:0.1263	.	67	Q96A61	TRI52_HUMAN	K	67	ENSP00000332152:E67K	.	E	-	1	0	TRIM52	180620222	0.003000	0.15002	0.000000	0.03702	0.113000	0.19764	1.745000	0.38278	0.217000	0.20800	0.511000	0.50034	GAG		0.582	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		4	104	0	0	0	0.009096	0	4	104				
SSR1	6745	broad.mit.edu	37	6	7301605	7301605	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:7301605C>G	ENST00000244763.4	-	4	567	c.481G>C	c.(481-483)Gca>Cca	p.A161P	SSR1_ENST00000534851.1_Missense_Mutation_p.A134P|SSR1_ENST00000462112.1_Missense_Mutation_p.A161P|SSR1_ENST00000474597.1_Missense_Mutation_p.A161P|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000479365.1_Missense_Mutation_p.A161P|SSR1_ENST00000488834.1_5'UTR|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000397511.2_Missense_Mutation_p.A161P	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A161P(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					ATGGGCTCTGCAGGAATGAAA	0.428																																							uc003mxf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)GCA>CCA		signal sequence receptor, alpha precursor							74.0	76.0	75.0					6																	7301605		2203	4300	6503	SO:0001583	missense	6745				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr6:7301605C>G		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.481G>C	6.37:g.7301605C>G	ENSP00000244763:p.Ala161Pro					SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Missense_Mutation_p.A161P	p.A161P	NM_003144	NP_003135	P43307	SSRA_HUMAN			4	669	-	Ovarian(93;0.0398)		161			Lumenal (Potential).		A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	ENST00000244763.4	37	c.481G>C	CCDS4499.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258541	0.95368	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000479365;ENST00000462112	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.94	T	0.55471	-0.8136	10	0.33141	T	0.24	.	18.8387	0.92172	0.0:1.0:0.0:0.0	.	161;161	C9J5W0;P43307	.;SSRA_HUMAN	P	161;161;161;134;161;161	ENSP00000418617:A161P;ENSP00000244763:A161P;ENSP00000380647:A161P;ENSP00000443020:A134P;ENSP00000417911:A161P;ENSP00000417290:A161P	ENSP00000244763:A161P	A	-	1	0	SSR1	7246604	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCA		0.428	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039775.2			3	73	0	0	0	0.004672	0	3	73				
TFAP2A	7020	broad.mit.edu	37	6	10398916	10398916	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:10398916C>A	ENST00000482890.1	-	8	1400	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	TFAP2A_ENST00000319516.4_Missense_Mutation_p.D346Y|TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379604.2_Missense_Mutation_p.D350Y|TFAP2A_ENST00000379608.3_Missense_Mutation_p.D344Y|TFAP2A_ENST00000379613.3_Missense_Mutation_p.D352Y			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	350	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D350Y(1)|p.D344Y(1)|p.D346Y(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCAGCAGGTCGGTGAACTCT	0.567																																							uc003myr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1048-1050)GAC>TAC		transcription factor AP-2 alpha isoform a							114.0	122.0	119.0					6																	10398916		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398916C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1048G>T	6.37:g.10398916C>A	ENSP00000418541:p.Asp350Tyr					TFAP2A_uc003myq.2_Missense_Mutation_p.D344Y|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.P302P|TFAP2A_uc003myt.2_Missense_Mutation_p.D346Y	p.D350Y	NM_003220	NP_003211	P05549	AP2A_HUMAN			7	1300	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	350			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.1048G>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285988	0.95517	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.7	5.7	0.88788	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.98;0.999	D	0.99293	1.0899	10	0.87932	D	0	-16.5239	19.8463	0.96708	0.0:1.0:0.0:0.0	.	346;350;344	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	Y	352;350;346;344;350	ENSP00000368933:D352Y;ENSP00000368924:D350Y;ENSP00000316516:D346Y;ENSP00000368928:D344Y;ENSP00000418541:D350Y	ENSP00000316516:D346Y	D	-	1	0	TFAP2A	10506902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.688000	0.91661	0.655000	0.94253	GAC		0.567	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		50	244	1	0	3.28156e-27	0.00361	5.34521e-27	50	244				
PHACTR1	221692	broad.mit.edu	37	6	13206311	13206311	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:13206311G>A	ENST00000379350.1	+	7	1058	c.929G>A	c.(928-930)tGc>tAc	p.C310Y	PHACTR1_ENST00000332995.7_Missense_Mutation_p.C310Y|PHACTR1_ENST00000457702.2_Missense_Mutation_p.C165Y|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	310					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.C310Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCGGGCTGCAGAATGATA	0.637																																							uc010jpc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TGC>TAC		phosphatase and actin regulator 1							21.0	24.0	23.0					6																	13206311		2042	4190	6232	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206311G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.929G>A	6.37:g.13206311G>A	ENSP00000368655:p.Cys310Tyr					PHACTR1_uc011dir.1_Missense_Mutation_p.C379Y|PHACTR1_uc003nag.1_Missense_Mutation_p.C310Y|PHACTR1_uc003nah.1_Missense_Mutation_p.C310Y	p.C310Y	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1261	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	310					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.929G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.85|13.85	2.359497|2.359497	0.41801|0.41801	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.32988	.|1.43;1.46;1.5	4.85|4.85	3.95|3.95	0.45737|0.45737	.|.	.|0.087932	.|0.85682	.|D	.|0.000000	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.19583	.|0.037;0.005;0.032	.|B;B;B	.|0.16722	.|0.016;0.007;0.015	T|T	0.10177|0.10177	-1.0641|-1.0641	5|10	.|0.15952	.|T	.|0.53	-7.4089|-7.4089	13.128|13.128	0.59366|0.59366	0.0:0.0:0.8255:0.1745|0.0:0.0:0.8255:0.1745	.|.	.|379;310;310	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	T|Y	145|310;310;379;165	.|ENSP00000368655:C310Y;ENSP00000329880:C310Y;ENSP00000397669:C165Y	.|ENSP00000329880:C310Y	A|C	+|+	1|2	0|0	PHACTR1|PHACTR1	13314290|13314290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.998000|6.998000	0.76277|0.76277	1.184000|1.184000	0.42957|0.42957	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.637	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	25	0	0	0	0.000602	0	4	25				
KDM1B	221656	broad.mit.edu	37	6	18166609	18166609	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:18166609G>T	ENST00000297792.5	+	6	594	c.417G>T	c.(415-417)tgG>tgT	p.W139C	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Splice_Site_p.W139C|KDM1B_ENST00000397244.1_Splice_Site_p.W139C			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	139					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.W139C(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCCCCTACTGGGTAAGGAGAG	0.408																																							uc003ncn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(415-417)TGG>TGT		amine oxidase (flavin containing) domain 1							94.0	89.0	91.0					6																	18166609		2203	4300	6503	SO:0001630	splice_region_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18166609G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.417+1G>T	6.37:g.18166609G>T							p.W139C	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			6	658	+			139			CW-type.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.417G>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522701	0.85600	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.59906	0.88;0.23;0.24	5.31	5.31	0.75309	.	2.154200	0.02077	N	0.052001	T	0.75752	0.3892	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63440	-0.6637	10	0.87932	D	0	-4.5311	19.3412	0.94342	0.0:0.0:1.0:0.0	.	139	A2A2C6	.	C	139	ENSP00000373522:W139C;ENSP00000380419:W139C;ENSP00000297792:W139C	ENSP00000297792:W139C	W	+	3	0	KDM1B	18274588	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.002000	0.93572	2.657000	0.90304	0.655000	0.94253	TGG		0.408	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	Missense_Mutation	11	54	1	0	2.27111e-07	0.001368	2.78527e-07	11	54				
DCDC2	51473	broad.mit.edu	37	6	24357729	24357729	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:24357729C>A	ENST00000378454.3	-	1	551	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	84	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.G84C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACGTAATTGCCCCCGCTCTGG	0.612																																							uc003ndx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GGC>TGC		doublecortin domain containing 2							46.0	44.0	45.0					6																	24357729		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357729C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.250G>T	6.37:g.24357729C>A	ENSP00000367715:p.Gly84Cys					DCDC2_uc003ndy.2_Missense_Mutation_p.G84C|KAAG1_uc003ndz.1_5'UTR	p.G84C	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			1	552	-		Ovarian(999;0.101)	84			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.250G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019117	0.93462	.	.	ENSG00000146038	ENST00000378454;ENST00000451359	D	0.93019	-3.15	5.57	5.57	0.84162	Doublecortin domain (5);	0.358888	0.29892	N	0.010938	D	0.96002	0.8698	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95700	0.8748	10	0.59425	D	0.04	0.0624	19.5657	0.95391	0.0:1.0:0.0:0.0	.	84	Q9UHG0	DCDC2_HUMAN	C	84	ENSP00000367715:G84C	ENSP00000367715:G84C	G	-	1	0	DCDC2	24465708	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.914000	0.69964	2.630000	0.89119	0.591000	0.81541	GGC		0.612	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		13	61	1	0	1.05317e-09	0.00245	1.40819e-09	13	61				
HIST1H1B	3009	broad.mit.edu	37	6	27835161	27835161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:27835161C>A	ENST00000331442.3	-	1	198	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	49	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K49N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CAGCCACAGCCTTGGTGATCA	0.592																																							uc003njx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(145-147)AAG>AAT		histone cluster 1, H1b							63.0	71.0	68.0					6																	27835161		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835161C>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.147G>T	6.37:g.27835161C>A	ENSP00000330074:p.Lys49Asn						p.K49N	NM_005322	NP_005313	P16401	H15_HUMAN			1	199	-			49			H15.		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.147G>T	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893615	0.72639	.	.	ENSG00000184357	ENST00000331442	T	0.12569	2.67	5.43	1.74	0.24563	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.051660	0.85682	D	0.000000	T	0.12475	0.0303	L	0.55834	1.745	0.54753	D	0.999987	B	0.33549	0.417	P	0.51355	0.667	T	0.06661	-1.0814	10	0.41790	T	0.15	-6.0169	8.3542	0.32321	0.0:0.6298:0.0:0.3702	.	49	P16401	H15_HUMAN	N	49	ENSP00000330074:K49N	ENSP00000330074:K49N	K	-	3	2	HIST1H1B	27943140	0.938000	0.31826	0.949000	0.38748	0.925000	0.55904	0.164000	0.16542	0.106000	0.17784	-0.126000	0.14955	AAG		0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		7	159	1	0	0.00307968	0.00308	0.00329147	7	159				
ZFP57	346171	broad.mit.edu	37	6	29643264	29643264	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:29643264G>A	ENST00000488757.1	-	3	401	c.251C>T	c.(250-252)gCc>gTc	p.A84V	ZFP57_ENST00000376881.3_Splice_Site_p.A64V|ZFP57_ENST00000376883.1_Splice_Site_p.A64V	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A64V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAAGATTCTGGCTGATGTGTG	0.478																																							uc011dlw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(250-252)GCC>GTC		zinc finger protein 57 homolog							200.0	186.0	191.0					6																	29643264		1941	4147	6088	SO:0001630	splice_region_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29643264G>A	AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"""Zinc fingers, C2H2-type"", ""-"""	18791	protein-coding gene	gene with protein product		612192	"""chromosome 6 open reading frame 40"", ""zinc finger protein 57 homolog (mouse)"""	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.251-1C>T	6.37:g.29643264G>A						ZFP57_uc003nnl.3_Missense_Mutation_p.A64V	p.A84V	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			3	402	-			56			KRAB.		B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP	ENST00000488757.1	37	c.251C>T	CCDS43436.2	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522643	0.27211	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.00832	5.64;5.64;5.64	4.36	-1.85	0.07784	.	0.593624	0.14213	N	0.333914	T	0.00210	0.0006	N	0.16266	0.395	0.09310	N	1	B;B	0.23891	0.093;0.093	B;B	0.17433	0.018;0.018	T	0.44817	-0.9303	10	0.62326	D	0.03	.	0.8337	0.01135	0.3027:0.2179:0.3325:0.1469	.	84;64	Q9NU63-3;Q9NU63-2	.;.	V	84;64;64	ENSP00000418259:A84V;ENSP00000366078:A64V;ENSP00000366080:A64V	ENSP00000366078:A64V	A	-	2	0	ZFP57	29751243	0.003000	0.15002	0.001000	0.08648	0.077000	0.17291	0.014000	0.13333	-0.530000	0.06349	0.655000	0.94253	GCC		0.478	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355773.1	XM_294093	Missense_Mutation	19	187	0	0	0	0.006122	0	19	187				
PPP1R10	5514	broad.mit.edu	37	6	30571379	30571379	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:30571379G>T	ENST00000376511.2	-	16	2189	c.1637C>A	c.(1636-1638)cCt>cAt	p.P546H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	546	Gly-rich.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCCCCATCAGGTGAGCCACC	0.537																																							uc003nqn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1636-1638)CCT>CAT		protein phosphatase 1, regulatory subunit 10							102.0	110.0	107.0					6																	30571379		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571379G>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1637C>A	6.37:g.30571379G>T	ENSP00000365694:p.Pro546His					PPP1R10_uc010jsc.1_Missense_Mutation_p.P200H	p.P546H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			16	2189	-			546			Gly-rich.|Interaction with WDR82 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.1637C>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626900	0.46840	.	.	ENSG00000204569	ENST00000376511	T	0.26223	1.75	4.77	4.77	0.60923	.	0.055174	0.64402	D	0.000001	T	0.22399	0.0540	N	0.14661	0.345	0.46279	D	0.998965	D	0.76494	0.999	P	0.61328	0.887	T	0.16247	-1.0409	10	0.66056	D	0.02	-8.6673	16.924	0.86170	0.0:0.0:1.0:0.0	.	546	Q96QC0	PP1RA_HUMAN	H	546	ENSP00000365694:P546H	ENSP00000365694:P546H	P	-	2	0	PPP1R10	30679358	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.757000	0.74924	2.348000	0.79779	0.313000	0.20887	CCT		0.537	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		33	224	1	0	6.03168e-27	0.004878	9.80795e-27	33	224				
PPT2	9374	broad.mit.edu	37	6	32125471	32125471	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:32125471G>C	ENST00000324816.6	+	6	1167	c.599G>C	c.(598-600)gGg>gCg	p.G200A	PPT2_ENST00000375137.2_Missense_Mutation_p.G200A|PPT2_ENST00000395523.1_Missense_Mutation_p.G200A|PPT2_ENST00000361568.2_Missense_Mutation_p.G206A|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.G200A|PPT2_ENST00000375143.2_Missense_Mutation_p.G200A|PPT2_ENST00000445576.2_Missense_Mutation_p.G200A|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Missense_Mutation_p.G77A			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	200					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.G206A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CTGATCAATGGGGAAAGAGAC	0.507																																							uc003nzx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GGG>GCG		palmitoyl-protein thioesterase 2 isoform a							117.0	98.0	105.0					6																	32125471		1510	2709	4219	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32125471G>C	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.599G>C	6.37:g.32125471G>C	ENSP00000320528:p.Gly200Ala					PPT2_uc003nzw.2_Missense_Mutation_p.G206A|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.G200A|PPT2_uc003oaa.2_Missense_Mutation_p.G200A|PPT2_uc010jtu.1_Missense_Mutation_p.G200A	p.G200A	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN			6	1167	+			200					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.599G>C	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327854	0.60743	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118	D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.62	5.62	0.85841	.	0.439294	0.26203	N	0.025736	D	0.92221	0.7533	M	0.62723	1.935	0.80722	D	1	P;P;P	0.52463	0.939;0.953;0.953	P;P;P	0.49561	0.45;0.615;0.615	D	0.92902	0.6340	10	0.87932	D	0	-3.6565	13.1444	0.59452	0.0:0.1605:0.8395:0.0	.	200;200;206	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	A	206;200;200;200;77;200;200;122;200	ENSP00000354608:G206A;ENSP00000378894:G200A;ENSP00000412381:G200A;ENSP00000320528:G200A;ENSP00000415350:G77A;ENSP00000364279:G200A;ENSP00000364285:G200A;ENSP00000409877:G122A	ENSP00000320528:G200A	G	+	2	0	PPT2	32233449	0.993000	0.37304	1.000000	0.80357	0.775000	0.43874	2.559000	0.45888	2.809000	0.96659	0.467000	0.42956	GGG		0.507	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		3	77	0	0	0	0.009096	0	3	77				
NOTCH4	4855	broad.mit.edu	37	6	32169153	32169153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:32169153C>G	ENST00000375023.3	-	22	4018	c.3880G>C	c.(3880-3882)Ggg>Cgg	p.G1294R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1294					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.G1294R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGAGGGCCCCCACTCTGGG	0.632																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3880-3882)GGG>CGG		notch4 preproprotein							39.0	40.0	40.0					6																	32169153		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169153C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3880G>C	6.37:g.32169153C>G	ENSP00000364163:p.Gly1294Arg					NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.G1294R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			22	4019	-			1294			LNR 3.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3880G>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418749	0.11870	.	.	ENSG00000204301	ENST00000375023	T	0.80738	-1.41	4.57	3.68	0.42216	Notch domain (1);	0.189390	0.25299	N	0.031669	T	0.43188	0.1236	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36432	-0.9748	10	0.17369	T	0.5	.	7.3335	0.26596	0.0:0.8007:0.0:0.1993	.	1294	Q99466	NOTC4_HUMAN	R	1294	ENSP00000364163:G1294R	ENSP00000364163:G1294R	G	-	1	0	NOTCH4	32277131	0.003000	0.15002	0.997000	0.53966	0.990000	0.78478	-0.368000	0.07543	1.143000	0.42306	0.555000	0.69702	GGG		0.632	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			16	46	0	0	0	0.001882	0	16	46				
C6orf222	389384	broad.mit.edu	37	6	36285159	36285159	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:36285159T>A	ENST00000437635.2	-	12	2110	c.1933A>T	c.(1933-1935)Agt>Tgt	p.S645C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	645								p.S645C(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACCTTAGGACTTGTGATGTTC	0.423																																							uc003oly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1933-1935)AGT>TGT		hypothetical protein LOC389384							176.0	164.0	168.0					6																	36285159		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36285159T>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1933A>T	6.37:g.36285159T>A	ENSP00000418983:p.Ser645Cys						p.S645C	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			12	2111	-			645					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1933A>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.747291	0.30955	.	.	ENSG00000189325	ENST00000437635	T	0.54279	0.58	5.37	4.2	0.49525	.	0.222920	0.32357	N	0.006207	T	0.42653	0.1212	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.34775	-0.9815	10	0.72032	D	0.01	-20.6934	8.0007	0.30295	0.0:0.093:0.0:0.9069	.	645	P0C671	CF222_HUMAN	C	645	ENSP00000418983:S645C	ENSP00000418983:S645C	S	-	1	0	C6orf222	36393137	0.010000	0.17322	0.030000	0.17652	0.105000	0.19272	2.035000	0.41155	0.990000	0.38787	0.533000	0.62120	AGT		0.423	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		7	156	0	0	0	0.00308	0	7	156				
DNAH8	1769	broad.mit.edu	37	6	38775449	38775449	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:38775449C>T	ENST00000359357.3	+	22	2817	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W|DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	855					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.R855W(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						AAAAGCTACACGGTTATCTCT	0.328																																							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.(2563-2565)CGG>TGG		dynein, axonemal, heavy polypeptide 8							110.0	111.0	110.0					6																	38775449		2203	4298	6501	SO:0001583	missense	1769							g.chr6:38775449C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2563C>T	6.37:g.38775449C>T	ENSP00000352312:p.Arg855Trp						p.R855W	NM_001371	NP_001362					22	3163	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2563C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.060188	0.76074	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.31769	1.55;1.55;1.48	6.07	0.503	0.16940	.	0.135191	0.47852	D	0.000210	T	0.32823	0.0842	M	0.61703	1.905	0.40631	D	0.98185	D	0.89917	1.0	D	0.81914	0.995	T	0.15809	-1.0424	10	0.59425	D	0.04	.	7.0736	0.25191	0.3548:0.5049:0.0:0.1403	.	855	Q96JB1	DYH8_HUMAN	W	1060;1060;855;855	ENSP00000333363:R1060W;ENSP00000352312:R855W;ENSP00000402294:R855W	ENSP00000333363:R1060W	R	+	1	2	DNAH8	38883427	0.999000	0.42202	0.961000	0.40146	0.993000	0.82548	1.645000	0.37238	0.133000	0.18654	0.650000	0.86243	CGG		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		20	108	0	0	0	0.010504	0	20	108				
DNAH8	1769	broad.mit.edu	37	6	38850818	38850818	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:38850818A>G	ENST00000359357.3	+	52	7594	c.7340A>G	c.(7339-7341)aAa>aGa	p.K2447R	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2664R|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2411R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2447	AAA 3. {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.K2447R(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						ACCATTGCAAAACAACATAAA	0.323																																							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.(7339-7341)AAA>AGA		dynein, axonemal, heavy polypeptide 8							78.0	90.0	86.0					6																	38850818		2202	4293	6495	SO:0001583	missense	1769							g.chr6:38850818A>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.7340A>G	6.37:g.38850818A>G	ENSP00000352312:p.Lys2447Arg						p.K2447R	NM_001371	NP_001362					52	7940	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7340A>G		.	.	.	.	.	.	.	.	.	.	A	26.9	4.781252	0.90282	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16897	2.31;2.31;2.31	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.56124	1.755	0.58432	D	0.999999	D	0.63880	0.993	D	0.63381	0.914	T	0.01004	-1.1484	10	0.30078	T	0.28	.	16.2631	0.82557	1.0:0.0:0.0:0.0	.	2447	Q96JB1	DYH8_HUMAN	R	2652;2652;2447;2411	ENSP00000333363:K2652R;ENSP00000352312:K2447R;ENSP00000402294:K2411R	ENSP00000333363:K2652R	K	+	2	0	DNAH8	38958796	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.151000	0.64875	2.239000	0.73571	0.528000	0.53228	AAA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	107	0	0	0	0.000602	0	4	107				
HSP90AB1	3326	broad.mit.edu	37	6	44221076	44221076	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:44221076C>T	ENST00000371554.1	+	11	2240	c.2026C>T	c.(2026-2028)Cac>Tac	p.H676Y	MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.H676Y|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.H676Y|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	676					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.H676Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCCAGACCCACTCCAACCG	0.502																																							uc003oxa.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)	4						c.(2026-2028)CAC>TAC		heat shock 90kDa protein 1, beta							304.0	306.0	306.0					6																	44221076		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221076C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2026C>T	6.37:g.44221076C>T	ENSP00000360609:p.His676Tyr					HSP90AB1_uc011dvr.1_Missense_Mutation_p.H666Y|HSP90AB1_uc003oxb.1_Missense_Mutation_p.H676Y|HSP90AB1_uc011dvs.1_Missense_Mutation_p.H496Y|HSP90AB1_uc003oxc.1_Missense_Mutation_p.H314Y	p.H676Y	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2110	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		676					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.2026C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862322	0.71949	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.06768	3.26;3.26;3.26	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.05135	0.0137	L	0.31371	0.925	0.80722	D	1	B;B;B	0.31581	0.329;0.193;0.195	B;B;B	0.37346	0.208;0.208;0.247	T	0.36432	-0.9748	10	0.52906	T	0.07	-15.103	17.6805	0.88241	0.0:1.0:0.0:0.0	.	638;666;676	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Y	676	ENSP00000360709:H676Y;ENSP00000325875:H676Y;ENSP00000360609:H676Y	ENSP00000325875:H676Y	H	+	1	0	HSP90AB1	44329054	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.779000	0.85648	2.265000	0.75225	0.508000	0.49915	CAC		0.502	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		75	466	0	0	0	0.00361	0	75	466				
TCTE1	202500	broad.mit.edu	37	6	44255481	44255481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:44255481C>A	ENST00000371505.4	-	2	204	c.82G>T	c.(82-84)Gga>Tga	p.G28*	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_De_novo_Start_OutOfFrame|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	28								p.G28*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGTGTGTCCTCCAGTGGAG	0.552																																							uc003oxi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(82-84)GGA>TGA		t-complex-associated testis expressed 1							201.0	136.0	158.0					6																	44255481		2203	4300	6503	SO:0001587	stop_gained	202500							g.chr6:44255481C>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.82G>T	6.37:g.44255481C>A	ENSP00000360560:p.Gly28*					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.G28*	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	238	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		28					B4DX59|Q8IYS6	Nonsense_Mutation	SNP	ENST00000371505.4	37	c.82G>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536159	0.85812	.	.	ENSG00000146221	ENST00000371505	.	.	.	4.54	0.442	0.16582	.	0.971770	0.08425	N	0.947757	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.0159	3.7192	0.08449	0.309:0.4956:0.0:0.1954	.	.	.	.	X	28	.	ENSP00000360560:G28X	G	-	1	0	TCTE1	44363459	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	0.174000	0.16743	-0.033000	0.13736	0.205000	0.17691	GGA		0.552	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		13	70	1	0	7.03913e-09	0.001368	9.14122e-09	13	70				
GPR115	221393	broad.mit.edu	37	6	47676002	47676002	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:47676002G>A	ENST00000283303.2	+	3	394	c.136G>A	c.(136-138)Gga>Aga	p.G46R	GPR115_ENST00000327753.3_Missense_Mutation_p.G46R|GPR115_ENST00000371220.1_Missense_Mutation_p.G103R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	46					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.G46R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCCAAGACTGGAAGGATCCA	0.458																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(136-138)GGA>AGA		G-protein coupled receptor 115 precursor							62.0	58.0	59.0					6																	47676002		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47676002G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.136G>A	6.37:g.47676002G>A	ENSP00000283303:p.Gly46Arg					GPR115_uc003oyz.1_Missense_Mutation_p.G103R|GPR115_uc003ozb.1_Missense_Mutation_p.G44R	p.G46R	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			3	394	+			46			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.136G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466822	0.26335	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.33865	1.61;1.39;1.39	5.35	2.58	0.30949	.	0.643585	0.14722	N	0.302251	T	0.10937	0.0267	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.21109	-1.0255	10	0.45353	T	0.12	-0.9075	6.412	0.21696	0.2967:0.0:0.7033:0.0	.	46	Q8IZF3	GP115_HUMAN	R	103;46;46	ENSP00000360264:G103R;ENSP00000328319:G46R;ENSP00000283303:G46R	ENSP00000283303:G46R	G	+	1	0	GPR115	47783961	0.015000	0.18098	0.019000	0.16419	0.828000	0.46876	1.384000	0.34396	0.922000	0.37019	0.655000	0.94253	GGA		0.458	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		16	41	0	0	0	0.010504	0	16	41				
MUT	4594	broad.mit.edu	37	6	49403211	49403211	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:49403211C>T	ENST00000274813.3	-	12	2209	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	694	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.		R -> W (in MMAM; mut- and mut0). {ECO:0000269|PubMed:15643616, ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:7912889, ECO:0000269|PubMed:9285782}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.R694R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATCTGGCCGTCCAAGGG	0.448																																							uc003ozg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2080-2082)CGG>CGA		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						103.0	84.0	90.0					6																	49403211		2203	4300	6503	SO:0001819	synonymous_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49403211C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.2082G>A	6.37:g.49403211C>T							p.R694R	NM_000255	NP_000246	P22033	MUTA_HUMAN			12	2337	-	Lung NSC(77;0.0376)		694		R -> W (in MMAM; mut- and mut0).	B12-binding.		A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	c.2082G>A	CCDS4924.1																																																																																				0.448	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			4	56	0	0	0	0.009096	0	4	56				
TINAG	27283	broad.mit.edu	37	6	54185441	54185441	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:54185441G>T	ENST00000259782.4	+	2	515		c.e2+1		TINAG_ENST00000370869.3_Splice_Site|TINAG_ENST00000370864.3_Splice_Site|TINAG_ENST00000486436.1_Splice_Site	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAACTCCTGGTAATAAATTT	0.308																																							uc003pcj.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.e2+1		tubulointerstitial nephritis antigen							122.0	130.0	128.0					6																	54185441		2203	4297	6500	SO:0001630	splice_region_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54185441G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.419+1G>T	6.37:g.54185441G>T						TINAG_uc003pci.2_Missense_Mutation_p.W140C|TINAG_uc010jzt.2_Intron	p.C140_splice	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		2	565	+	Lung NSC(77;0.0518)							Q5T467|Q9UJW1|Q9ULZ4	Splice_Site	SNP	ENST00000259782.4	37	c.419_splice	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893469	0.52121	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	.	.	.	5.5	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6375	0.51213	0.0:0.0:0.8221:0.1779	.	.	.	.	.	-1	.	.	.	+	.	.	TINAG	54293400	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.360000	0.66086	1.289000	0.44618	-0.311000	0.09066	.		0.308	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	Intron	29	54	1	0	2.81731e-10	0.002096	3.83738e-10	29	54				
COL9A1	1297	broad.mit.edu	37	6	70961991	70961991	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:70961991C>A	ENST00000357250.6	-	27	1950	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	COL9A1_ENST00000370499.4_Missense_Mutation_p.G355C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G355C|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	598	Collagen-like 6.|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.G598C(1)|p.G355C(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						CCCATCTGACCAGGCTTCCCT	0.428																																							uc003pfg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1792-1794)GGT>TGT		alpha 1 type IX collagen isoform 1 precursor							120.0	117.0	118.0					6																	70961991		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70961991C>A		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.1792G>T	6.37:g.70961991C>A	ENSP00000349790:p.Gly598Cys					COL9A1_uc003pfe.3_Missense_Mutation_p.G171C|COL9A1_uc003pff.3_Missense_Mutation_p.G355C	p.G598C	NM_001851	NP_001842	P20849	CO9A1_HUMAN			27	1951	-			598			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1792G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825068	0.50739	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99299	4.505	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	0.96513	0.9380	10	0.87932	D	0	.	17.9359	0.89012	0.0:1.0:0.0:0.0	.	598;355;171	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	C	598;355;355	ENSP00000349790:G598C;ENSP00000315252:G355C;ENSP00000359530:G355C	ENSP00000315252:G355C	G	-	1	0	COL9A1	71018712	1.000000	0.71417	0.997000	0.53966	0.545000	0.35147	5.336000	0.65935	2.665000	0.90641	0.563000	0.77884	GGT		0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	85	1	0	0.00307968	0.00308	0.00329147	7	85				
CD109	135228	broad.mit.edu	37	6	74407145	74407145	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:74407145C>A	ENST00000287097.5	+	2	209	c.97C>A	c.(97-99)Cca>Aca	p.P33T	CD109_ENST00000437994.2_Missense_Mutation_p.P33T|CD109_ENST00000422508.2_Missense_Mutation_p.P33T|RP11-553A21.3_ENST00000428865.2_RNA			Q6YHK3	CD109_HUMAN	CD109 molecule	33					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.P33T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGACAGCCCCAGGGATCAT	0.507																																							uc003php.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(97-99)CCA>ACA		CD109 antigen isoform 1 precursor							107.0	106.0	106.0					6																	74407145		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74407145C>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.97C>A	6.37:g.74407145C>A	ENSP00000287097:p.Pro33Thr					CD109_uc010kaz.2_Missense_Mutation_p.P33T|CD109_uc003phq.2_Missense_Mutation_p.P33T|CD109_uc010kba.2_Missense_Mutation_p.P33T|uc003pho.1_5'Flank	p.P33T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			2	522	+			33					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.97C>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966527	0.74131	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.58652	0.65;0.32;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000008	T	0.53722	0.1814	N	0.19112	0.55	0.26830	N	0.968597	D;D;D;D	0.89917	1.0;1.0;0.976;1.0	D;D;P;D	0.87578	0.998;0.99;0.797;0.995	T	0.55661	-0.8106	10	0.87932	D	0	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	33;33;33;33	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	T	33	ENSP00000388062:P33T;ENSP00000404475:P33T;ENSP00000287097:P33T	ENSP00000287097:P33T	P	+	1	0	CD109	74463866	0.998000	0.40836	0.990000	0.47175	0.795000	0.44927	4.154000	0.58125	2.779000	0.95612	0.655000	0.94253	CCA		0.507	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		22	133	1	0	7.33628e-21	0.002299	1.14576e-20	22	133				
TMEM30A	55754	broad.mit.edu	37	6	75969072	75969072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:75969072G>A	ENST00000230461.6	-	5	1005	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.R107*|TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.R190*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	226					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R226*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTAAATCGTTCTTCCAGG	0.308																																							uc003phw.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(676-678)CGA>TGA		transmembrane protein 30A isoform 1							74.0	79.0	77.0					6																	75969072		2203	4298	6501	SO:0001587	stop_gained	55754					integral to membrane		g.chr6:75969072G>A	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.676C>T	6.37:g.75969072G>A	ENSP00000230461:p.Arg226*					TMEM30A_uc003phx.2_Nonsense_Mutation_p.R190*	p.R226*	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN			5	954	-			226					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Nonsense_Mutation	SNP	ENST00000230461.6	37	c.676C>T	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	39	7.311733	0.98203	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.51	2.43	0.29744	.	0.572479	0.17857	N	0.159668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	10.4926	0.44760	0.0:0.1178:0.5054:0.3768	.	.	.	.	X	226;210;107;190	.	ENSP00000230461:R226X	R	-	1	2	TMEM30A	76025792	0.004000	0.15560	1.000000	0.80357	0.933000	0.57130	0.839000	0.27586	0.724000	0.32296	0.655000	0.94253	CGA		0.308	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		42	112	0	0	0	0.00361	0	42	112				
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:76751728G>T	ENST00000369950.3	-	2	372	c.183C>A	c.(181-183)ttC>ttA	p.F61L	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(181-183)TTC>TTA		interphotoreceptor matrix proteoglycan 1							184.0	173.0	177.0					6																	76751728		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751728G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>A	6.37:g.76751728G>T	ENSP00000358966:p.Phe61Leu						p.F61L	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			2	313	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	61						Missense_Mutation	SNP	ENST00000369950.3	37	c.183C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909520	0.52439	.	.	ENSG00000112706	ENST00000369950	T	0.26660	1.72	6.07	0.611	0.17586	.	0.088939	0.49916	D	0.000140	T	0.15522	0.0374	L	0.53249	1.67	0.80722	D	1	D	0.55385	0.971	P	0.49887	0.625	T	0.02683	-1.1124	9	.	.	.	.	8.2162	0.31514	0.6712:0.0:0.3288:0.0	.	61	Q17R60	IMPG1_HUMAN	L	61	ENSP00000358966:F61L	.	F	-	3	2	IMPG1	76808448	0.987000	0.35691	0.243000	0.24186	0.419000	0.31324	1.113000	0.31184	0.154000	0.19237	0.655000	0.94253	TTC		0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		54	85	1	0	2.31418e-15	0.00361	3.43325e-15	54	85				
SPACA1	81833	broad.mit.edu	37	6	88773939	88773939	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:88773939T>A	ENST00000237201.1	+	6	848		c.e6+2		SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1						acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CATAAATTGGTAGGTGAATAG	0.413																																							uc003pmn.2		NA																	1	Unknown(1)		lung(1)		0						c.e6+2		sperm acrosome associated 1 precursor							135.0	135.0	135.0					6																	88773939		2203	4300	6503	SO:0001630	splice_region_variant	81833					integral to membrane		g.chr6:88773939T>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.731+2T>A	6.37:g.88773939T>A							p.W244_splice	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	848	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)							Splice_Site	SNP	ENST00000237201.1	37	c.731_splice	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053218	0.55218	.	.	ENSG00000118434	ENST00000237201	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2999	0.60319	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPACA1	88830658	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.957000	0.56730	2.179000	0.69175	0.477000	0.44152	.		0.413	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1		Intron	11	101	0	0	0	0.001855	0	11	101				
CASP8AP2	9994	broad.mit.edu	37	6	90577282	90577282	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:90577282G>T	ENST00000551025.1	+	0	5710									caspase 8 associated protein 2									p.V1425L(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGTGTAGTGTAGAAAAGAG	0.408																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4273-4275)GTA>TTA		caspase 8 associated protein 2							92.0	93.0	93.0					6																	90577282		1900	4114	6014			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577282G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577282G>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.V1425L|CASP8AP2_uc011dzz.1_Missense_Mutation_p.V1425L	p.V1425L	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4469	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1425						Missense_Mutation	SNP	ENST00000551025.1	37	c.4273G>T																																																																																					0.408	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		36	75	1	0	4.11147e-13	0.003755	5.92352e-13	36	75				
FHL5	9457	broad.mit.edu	37	6	97058635	97058635	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:97058635G>T	ENST00000326771.2	+	6	1071		c.e6+1		FHL5_ENST00000541107.1_Splice_Site	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCCATTAGTGGTGAGTTCTTC	0.388																																							uc003pos.1		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e6+1		activator of cAMP-responsive element modulator							132.0	128.0	129.0					6																	97058635		2203	4300	6503	SO:0001630	splice_region_variant	9457					nucleus	zinc ion binding	g.chr6:97058635G>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.691+1G>T	6.37:g.97058635G>T						FHL5_uc003pot.1_Splice_Site_p.G231_splice	p.G231_splice	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	1096	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)						B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Splice_Site	SNP	ENST00000326771.2	37	c.691_splice	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167218	0.78339	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4594	0.99160	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FHL5	97165356	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	9.430000	0.97488	2.848000	0.98002	0.650000	0.86243	.		0.388	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482	Intron	22	115	1	0	5.35356e-11	0.00278	7.40901e-11	22	115				
ASCC3	10973	broad.mit.edu	37	6	101053528	101053528	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:101053528T>A	ENST00000369162.2	-	33	5437	c.5093A>T	c.(5092-5094)cAa>cTa	p.Q1698L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1698	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.Q1698L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCTTTGCCTTGGTCATCGAA	0.373																																							uc003pqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(5092-5094)CAA>CTA		activating signal cointegrator 1 complex subunit							32.0	35.0	34.0					6																	101053528		2203	4299	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101053528T>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5093A>T	6.37:g.101053528T>A	ENSP00000358159:p.Gln1698Leu						p.Q1698L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	33	5422	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1698			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5093A>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814673	0.70912	.	.	ENSG00000112249	ENST00000369162	D	0.91124	-2.79	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	N	0.20845	0.615	0.80722	D	1	P	0.37985	0.613	B	0.34301	0.179	T	0.80750	-0.1243	10	0.40728	T	0.16	.	15.646	0.77049	0.0:0.0:0.0:1.0	.	1698	Q8N3C0	HELC1_HUMAN	L	1698	ENSP00000358159:Q1698L	ENSP00000358159:Q1698L	Q	-	2	0	ASCC3	101160249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.107000	0.64212	0.460000	0.39030	CAA		0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		8	32	0	0	0	0.00308	0	8	32				
HDAC2	3066	broad.mit.edu	37	6	114281153	114281153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:114281153C>G	ENST00000519065.1	-	2	458	c.82G>C	c.(82-84)Ggt>Cgt	p.G28R	HDAC2_ENST00000398283.2_Missense_Mutation_p.G122R|HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519108.1_5'UTR			Q92769	HDAC2_HUMAN	histone deacetylase 2	28	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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 protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G28R(1)|p.G122R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ATGGGATGACCCTGTCCATAA	0.323																																							uc003pwd.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(364-366)GGT>CGT		histone deacetylase 2	Vorinostat(DB02546)						84.0	85.0	85.0					6																	114281153		1851	4108	5959	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114281153C>G	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.82G>C	6.37:g.114281153C>G	ENSP00000430432:p.Gly28Arg					HDAC2_uc003pwc.1_5'UTR|HDAC2_uc003pwe.1_5'UTR	p.G122R	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	2	364	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	28			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.364G>C	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	33	5.220000	0.95139	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000425835;ENST00000521163	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000003	T	0.78310	0.4263	M	0.73753	2.245	0.80722	D	1	.	.	.	.	.	.	T	0.79455	-0.1796	8	0.87932	D	0	-30.6402	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	R	28;122;18;35	ENSP00000430432:G28R;ENSP00000381331:G122R;ENSP00000417026:G18R;ENSP00000428024:G35R	ENSP00000381331:G122R	G	-	1	0	HDAC2	114387846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	GGT		0.323	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			4	100	0	0	0	0.001168	0	4	100				
HS3ST5	222537	broad.mit.edu	37	6	114378677	114378677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:114378677G>T	ENST00000312719.5	-	5	1973	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P262H			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	262					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.P262H(1)|p.P262L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTCTGGCAGAGGTTCCGTGAT	0.433																																							uc003pwg.3		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(1)|pancreas(1)	2						c.(784-786)CCT>CAT		heparan sulfate (glucosamine)							121.0	120.0	120.0					6																	114378677		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378677G>T	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.785C>A	6.37:g.114378677G>T	ENSP00000427888:p.Pro262His					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P262H	p.P262H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	817	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	262			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.785C>A	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341263	0.60963	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.65916	-0.18;-0.18	5.93	5.93	0.95920	Sulfotransferase domain (1);	0.052569	0.85682	D	0.000000	D	0.84037	0.5384	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86950	0.2085	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	262	Q8IZT8	HS3S5_HUMAN	H	262	ENSP00000427888:P262H;ENSP00000440332:P262H	ENSP00000427888:P262H	P	-	2	0	HS3ST5	114485370	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	CCT		0.433	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		43	118	1	0	1.22674e-20	0.00874	1.90961e-20	43	118				
GPRC6A	222545	broad.mit.edu	37	6	117114013	117114013	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:117114013A>T	ENST00000310357.3	-	6	2094	c.2073T>A	c.(2071-2073)gaT>gaA	p.D691E	GPRC6A_ENST00000530250.1_Missense_Mutation_p.D516E|GPRC6A_ENST00000368549.3_Missense_Mutation_p.D620E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	691					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D691E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTAATTTGGGATCAAAGCTGA	0.418																																							uc003pxj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2071-2073)GAT>GAA		G protein-coupled receptor, family C, group 6,							74.0	72.0	73.0					6																	117114013		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117114013A>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2073T>A	6.37:g.117114013A>T	ENSP00000309493:p.Asp691Glu					GPRC6A_uc003pxk.1_Missense_Mutation_p.D516E|GPRC6A_uc003pxl.1_Missense_Mutation_p.D620E	p.D691E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2095	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	691			Cytoplasmic (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2073T>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	A	9.197	1.027492	0.19512	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87334	-2.24;-2.24;-2.24	4.46	-0.734	0.11140	GPCR, family 3, C-terminal (2);	0.107759	0.40818	N	0.001004	T	0.46541	0.1398	N	0.02539	-0.55	0.31950	N	0.609793	B;B;B	0.30482	0.003;0.281;0.019	B;B;B	0.30943	0.011;0.122;0.034	T	0.36625	-0.9740	10	0.56958	D	0.05	.	3.7983	0.08749	0.4159:0.0:0.3242:0.2599	.	620;516;691	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	E	691;620;516	ENSP00000309493:D691E;ENSP00000357537:D620E;ENSP00000433465:D516E	ENSP00000309493:D691E	D	-	3	2	GPRC6A	117220706	0.952000	0.32445	0.996000	0.52242	0.864000	0.49448	0.098000	0.15189	0.269000	0.21961	-0.353000	0.07706	GAT		0.418	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			22	66	0	0	0	0.001882	0	22	66				
SLC35F1	222553	broad.mit.edu	37	6	118475609	118475609	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:118475609G>T	ENST00000360388.4	+	2	376	c.175G>T	c.(175-177)Gag>Tag	p.E59*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	59					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E59*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ATTTCTCAGGGAGATGTTAAT	0.423																																							uc003pxx.3		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(175-177)GAG>TAG		solute carrier family 35, member F1							148.0	141.0	144.0					6																	118475609		2203	4300	6503	SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118475609G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.174-1G>T	6.37:g.118475609G>T							p.E59*	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	376	+			59					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.175G>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881110	0.97908	.	.	ENSG00000196376	ENST00000360388	.	.	.	6.02	6.02	0.97574	.	0.056502	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000353557:E59X	E	+	1	0	SLC35F1	118582302	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.680000	0.74518	2.865000	0.98341	0.655000	0.94253	GAG		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Nonsense_Mutation	17	183	1	0	5.3912e-06	0.006122	6.39657e-06	17	183				
LAMA2	3908	broad.mit.edu	37	6	129571288	129571289	+	Missense_Mutation	DNP	CC	CC	AA	rs112388307	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:129571288_129571289CC>AA	ENST00000421865.2	+	13	1863_1864	c.1814_1815CC>AA	c.(1813-1815)aCC>aAA	p.T605K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	605	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.T605K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGACATTTACCATATCATATG	0.401																																							uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(1813-1815)ACC>AAA		laminin alpha 2 subunit isoform a precursor																																				SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129571288_129571289CC>AA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	Exception_encountered	6.37:g.129571288_129571289delinsAA	ENSP00000400365:p.Thr605Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.T605K	p.T605K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	13	1919_1920	+			605			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	DNP	ENST00000421865.2	37	c.1814_1815CC>AA	CCDS5138.1																																																																																				0.401	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			56	100	0	0	0	0.004672	0	56	100				
LAMA2	3908	broad.mit.edu	37	6	129833584	129833584	+	Silent	SNP	G	G	A	rs186155089		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:129833584G>A	ENST00000421865.2	+	63	8983	c.8934G>A	c.(8932-8934)ctG>ctA	p.L2978L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2978	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2978L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGTTCTTCTGGGGATCAGTA	0.358																																							uc003qbn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(8932-8934)CTG>CTA		laminin alpha 2 subunit isoform a precursor							160.0	157.0	158.0					6																	129833584		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129833584G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8934G>A	6.37:g.129833584G>A						LAMA2_uc003qbo.2_Silent_p.L2974L|uc003qbq.2_Intron	p.L2978L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	9039	+			2978			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8934G>A	CCDS5138.1																																																																																				0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	225	0	0	0	0.003954	0	21	225				
TAAR6	319100	broad.mit.edu	37	6	132891677	132891677	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:132891677T>C	ENST00000275198.1	+	1	217	c.217T>C	c.(217-219)Tct>Cct	p.S73P		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	73					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.S73P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCTCGTTGCCTCTCTGGCCTG	0.522																																							uc011eck.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(217-219)TCT>CCT		trace amine associated receptor 6							183.0	162.0	169.0					6																	132891677		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891677T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.217T>C	6.37:g.132891677T>C	ENSP00000275198:p.Ser73Pro						p.S73P	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	217	+	Breast(56;0.112)		73			Helical; Name=2; (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.217T>C	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475828	0.44044	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.41065	1.01	4.99	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.74665	0.3746	H	0.99783	4.775	0.43330	D	0.995367	D	0.89917	1.0	D	0.91635	0.999	D	0.83818	0.0245	10	0.87932	D	0	-15.5704	11.2805	0.49192	0.1367:0.0:0.0:0.8633	.	73	Q96RI8	TAAR6_HUMAN	P	73;56	ENSP00000275198:S73P	ENSP00000275198:S73P	S	+	1	0	TAAR6	132933370	1.000000	0.71417	0.027000	0.17364	0.179000	0.23085	6.070000	0.71220	0.901000	0.36495	-0.433000	0.05886	TCT		0.522	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		39	157	0	0	0	0.002522	0	39	157				
ALDH8A1	64577	broad.mit.edu	37	6	135253996	135253996	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:135253996C>T	ENST00000265605.2	-	5	835	c.767G>A	c.(766-768)gGc>gAc	p.G256D	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G256D|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G206D	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	256					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.G256D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCTTGCCCCCCAGCTC	0.622																																							uc003qew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(766-768)GGC>GAC		aldehyde dehydrogenase 8A1 isoform 1							88.0	90.0	89.0					6																	135253996		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135253996C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.767G>A	6.37:g.135253996C>T	ENSP00000265605:p.Gly256Asp					ALDH8A1_uc003qex.2_Missense_Mutation_p.G256D|ALDH8A1_uc010kgh.2_Missense_Mutation_p.G88D|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G206D	p.G256D	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	5	820	-	Colorectal(23;0.221)		256					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.767G>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872725	0.72180	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.72835	-0.69;-0.69;-0.69	5.45	5.45	0.79879	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	H	0.96805	3.885	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	0.92501	0.6008	10	0.87932	D	0	.	19.2777	0.94039	0.0:1.0:0.0:0.0	.	206;256;256	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	D	256;256;206	ENSP00000265605:G256D;ENSP00000356819:G256D;ENSP00000356821:G206D	ENSP00000265605:G256D	G	-	2	0	ALDH8A1	135295689	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.555000	0.82223	2.550000	0.86006	0.557000	0.71058	GGC		0.622	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			5	135	0	0	0	0.000602	0	5	135				
BCLAF1	9774	broad.mit.edu	37	6	136597009	136597009	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:136597009C>A	ENST00000531224.1	-	5	1906	c.1654G>T	c.(1654-1656)Gca>Tca	p.A552S	BCLAF1_ENST00000353331.4_Missense_Mutation_p.A550S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A550S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A552S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A550S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A379S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	552					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A552S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGAACAGGTGCCATTTTGAGT	0.403																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1654-1656)GCA>TCA		BCL2-associated transcription factor 1 isoform							163.0	159.0	160.0					6																	136597009		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597009C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1654G>T	6.37:g.136597009C>A	ENSP00000435210:p.Ala552Ser					BCLAF1_uc003qgw.1_Missense_Mutation_p.A379S|BCLAF1_uc003qgy.1_Missense_Mutation_p.A550S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.A550S	p.A552S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1907	-	Colorectal(23;0.24)		552					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1654G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649259	0.29336	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000006	T	0.13543	0.0328	N	0.22421	0.69	0.39453	D	0.967447	D;D;D;D	0.61697	0.971;0.983;0.971;0.99	D;P;D;D	0.65140	0.919;0.79;0.919;0.932	T	0.02320	-1.1177	10	0.48119	T	0.1	-9.2009	13.0391	0.58889	0.0:0.9261:0.0:0.0739	.	550;550;552;379	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	S	552;550;552;379;550;550;552	ENSP00000435210:A552S;ENSP00000229446:A550S;ENSP00000435441:A552S;ENSP00000436501:A379S;ENSP00000434826:A550S;ENSP00000376159:A550S;ENSP00000431734:A552S	ENSP00000229446:A550S	A	-	1	0	BCLAF1	136638702	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.481000	0.45215	2.747000	0.94245	0.460000	0.39030	GCA		0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		17	281	1	0	2.94398e-08	0.007413	3.7512e-08	17	281				
HIVEP2	3097	broad.mit.edu	37	6	143091689	143091690	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:143091689_143091690CC>AA	ENST00000367604.1	-	4	4825_4826	c.4186_4187GG>TT	c.(4186-4188)GGg>TTg	p.G1396L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1396L|HIVEP2_ENST00000367603.2_Missense_Mutation_p.G1396L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1396					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.G1396L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGCATGCTGCCCCAGCACCTGG	0.52																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4186-4188)GGG>TTG		human immunodeficiency virus type I enhancer																																				SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091689_143091690CC>AA	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4186_4187delinsAA	6.37:g.143091689_143091690delinsAA	ENSP00000356576:p.Gly1396Leu						p.G1396L	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4929_4930	-			1396					Q02646|Q5THT5|Q9NS05	Missense_Mutation	DNP	ENST00000367604.1	37	c.4186_4187GG>TT	CCDS43510.1																																																																																				0.520	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			11	80	0	0	0	0.004672	0	11	80				
UTRN	7402	broad.mit.edu	37	6	144863971	144863971	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:144863971A>T	ENST00000367545.3	+	45	6560	c.6560A>T	c.(6559-6561)cAg>cTg	p.Q2187L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2187					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.Q2187L(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)		GAATGCATCCAGGAGCCCAGT	0.368																																							uc003qkt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(6559-6561)CAG>CTG		utrophin							80.0	77.0	78.0					6																	144863971		2203	4300	6503	SO:0001583	missense	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.chr6:144863971A>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.6560A>T	6.37:g.144863971A>T	ENSP00000356515:p.Gln2187Leu						p.Q2187L	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)	45	6652	+		Ovarian(120;0.218)	2187					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.6560A>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	4.902	0.167664	0.09339	.	.	ENSG00000152818	ENST00000367545	T	0.59906	0.23	3.87	1.4	0.22301	.	0.607106	0.14544	N	0.313118	T	0.17109	0.0411	N	0.17082	0.46	0.23515	N	0.997514	B	0.02656	0.0	B	0.06405	0.002	T	0.20042	-1.0287	10	0.56958	D	0.05	.	5.0612	0.14559	0.7149:0.1841:0.101:0.0	.	2187	P46939	UTRO_HUMAN	L	2187	ENSP00000356515:Q2187L	ENSP00000356515:Q2187L	Q	+	2	0	UTRN	144905664	0.199000	0.23386	0.427000	0.26684	0.084000	0.17831	0.327000	0.19663	0.304000	0.22809	0.459000	0.35465	CAG		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	38	0	0	0	0.009096	0	3	38				
GRM1	2911	broad.mit.edu	37	6	146720216	146720216	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:146720216C>G	ENST00000282753.1	+	7	2276	c.2041C>G	c.(2041-2043)Cgt>Ggt	p.R681G	GRM1_ENST00000392299.2_Missense_Mutation_p.R681G|GRM1_ENST00000361719.2_Missense_Mutation_p.R681G|GRM1_ENST00000492807.2_Missense_Mutation_p.R681G|GRM1_ENST00000355289.4_Missense_Mutation_p.R681G|GRM1_ENST00000507907.1_Missense_Mutation_p.R681G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	681					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.R681G(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)		TAAAACCAATCGTATTGCACG	0.527																																							uc010khw.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2041-2043)CGT>GGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						233.0	223.0	226.0					6																	146720216		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720216C>G	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.2041C>G	6.37:g.146720216C>G	ENSP00000282753:p.Arg681Gly					GRM1_uc010khv.1_Missense_Mutation_p.R681G|GRM1_uc003qll.2_Missense_Mutation_p.R681G|GRM1_uc011edz.1_Missense_Mutation_p.R681G|GRM1_uc011eea.1_Missense_Mutation_p.R681G	p.R681G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2511	+		Ovarian(120;0.0387)	681			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2041C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339866	0.81911	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.92923	3.36	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	0.96891	0.9653	10	0.72032	D	0.01	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	681;681;681	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	681	ENSP00000354896:R681G;ENSP00000376119:R681G;ENSP00000424095:R681G;ENSP00000282753:R681G;ENSP00000347437:R681G;ENSP00000425599:R681G	ENSP00000282753:R681G	R	+	1	0	GRM1	146761909	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.970000	0.70431	2.604000	0.88044	0.585000	0.79938	CGT		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	376	0	0	0	0.000602	0	5	376				
SASH1	23328	broad.mit.edu	37	6	148855994	148855994	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:148855994A>C	ENST00000367467.3	+	16	2527	c.2052A>C	c.(2050-2052)agA>agC	p.R684S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	684	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.R684S(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGAACACAGAGCTGTTCTCT	0.498																																							uc003qme.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2050-2052)AGA>AGC		SAM and SH3 domain containing 1							108.0	104.0	105.0					6																	148855994		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855994A>C	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2052A>C	6.37:g.148855994A>C	ENSP00000356437:p.Arg684Ser					SASH1_uc011eeb.1_Missense_Mutation_p.R445S|SASH1_uc003qmf.1_Missense_Mutation_p.R94S	p.R684S	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2527	+		Ovarian(120;0.0169)	684			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2052A>C	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124466	0.77436	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	D	0.87571	-2.27	5.07	2.61	0.31194	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.043393	0.85682	D	0.000000	D	0.91848	0.7420	M	0.91354	3.2	0.46203	D	0.998926	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.969	D	0.91110	0.4921	10	0.87932	D	0	-29.0874	8.369	0.32404	0.825:0.0:0.175:0.0	.	665;684	Q6P4R9;O94885	.;SASH1_HUMAN	S	684;445;94	ENSP00000356437:R684S	ENSP00000356437:R684S	R	+	3	2	SASH1	148897687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.612000	0.36889	0.252000	0.21531	0.459000	0.35465	AGA		0.498	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		31	101	0	0	0	0.002096	0	31	101				
TAB2	23118	broad.mit.edu	37	6	149700627	149700627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:149700627G>T	ENST00000367456.1	+	4	2153	c.1576G>T	c.(1576-1578)Gga>Tga	p.G526*	TAB2_ENST00000392282.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000536230.1_Nonsense_Mutation_p.G494*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.G526*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	526					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.G526*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACTGAGTATGGGATCTGATGA	0.418																																							uc003qmj.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1576-1578)GGA>TGA		mitogen-activated protein kinase kinase kinase 7							96.0	85.0	89.0					6																	149700627		2203	4300	6503	SO:0001587	stop_gained	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700627G>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1576G>T	6.37:g.149700627G>T	ENSP00000356426:p.Gly526*					TAB2_uc011eec.1_Nonsense_Mutation_p.G494*|TAB2_uc010kia.1_Nonsense_Mutation_p.G526*|TAB2_uc010kib.1_Nonsense_Mutation_p.G526*|TAB2_uc003qmk.3_RNA	p.G526*	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1754	+			526					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Nonsense_Mutation	SNP	ENST00000367456.1	37	c.1576G>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	39	7.863551	0.98531	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.8743	15.5723	0.76349	0.0655:0.0:0.9345:0.0	.	.	.	.	X	494;526;526;526;526	.	ENSP00000286332:G526X	G	+	1	0	TAB2	149742320	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.215000	0.95146	1.632000	0.50472	0.655000	0.94253	GGA		0.418	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			49	107	1	0	6.23363e-37	0.00361	1.02774e-36	49	107				
TTLL2	83887	broad.mit.edu	37	6	167754801	167754801	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:167754801G>A	ENST00000239587.5	+	3	1501	c.1413G>A	c.(1411-1413)gtG>gtA	p.V471V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	471					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.V471V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGACTCTGTGGTGGAGAAAG	0.507																																							uc003qvs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1411-1413)GTG>GTA		tubulin tyrosine ligase-like family, member 2							126.0	111.0	116.0					6																	167754801		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754801G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1413G>A	6.37:g.167754801G>A						TTLL2_uc011egr.1_RNA	p.V471V	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1501	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	471					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1413G>A	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		13	99	0	0	0	0.004007	0	13	99				
SDK1	221935	broad.mit.edu	37	7	4153888	4153888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:4153888G>T	ENST00000404826.2	+	25	3944	c.3805G>T	c.(3805-3807)Ggc>Tgc	p.G1269C	SDK1_ENST00000389531.3_Missense_Mutation_p.G1269C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1269	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1269C(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)		GGTGGTGCGGGGCCGGACGCG	0.637																																							uc003smx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3805-3807)GGC>TGC		sidekick 1 precursor							21.0	21.0	21.0					7																	4153888		2199	4299	6498	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153888G>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.3805G>T	7.37:g.4153888G>T	ENSP00000385899:p.Gly1269Cys					SDK1_uc010kso.2_Missense_Mutation_p.G545C	p.G1269C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3944	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1269			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3805G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902281	0.52227	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53640	0.61;0.61	5.38	5.38	0.77491	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.66268	0.2772	M	0.62209	1.925	0.58432	D	0.999992	P;D	0.89917	0.686;1.0	B;D	0.65987	0.322;0.94	T	0.65907	-0.6054	10	0.48119	T	0.1	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1269;1269	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	C	1269	ENSP00000385899:G1269C;ENSP00000374182:G1269C	ENSP00000374182:G1269C	G	+	1	0	SDK1	4120414	1.000000	0.71417	0.961000	0.40146	0.565000	0.35776	6.202000	0.72131	2.507000	0.84556	0.655000	0.94253	GGC		0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	18	1	0	2.0095e-06	0.001984	2.40531e-06	6	18				
WIPI2	26100	broad.mit.edu	37	7	5239290	5239290	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:5239290G>A	ENST00000288828.4	+	3	443		c.e3+1		WIPI2_ENST00000382384.2_Splice_Site|WIPI2_ENST00000404704.3_Splice_Site|WIPI2_ENST00000485854.1_Splice_Site|WIPI2_ENST00000401525.3_Splice_Site	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						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.?(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)		TATGAATGCAGTAAGTGTTTG	0.363																																							uc003snv.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e3+1		WD repeat domain, phosphoinositide interacting 2							158.0	154.0	155.0					7																	5239290		2203	4300	6503	SO:0001630	splice_region_variant	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5239290G>A		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.211+1G>A	7.37:g.5239290G>A						WIPI2_uc003snw.2_Splice_Site_p.T71_splice|WIPI2_uc003snx.2_Splice_Site_p.T53_splice|WIPI2_uc003sny.2_Splice_Site_p.T53_splice|WIPI2_uc010ksv.2_Splice_Site	p.T71_splice	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	3	427	+		Ovarian(82;0.0175)						B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Splice_Site	SNP	ENST00000288828.4	37	c.211_splice	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121756	0.77436	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384	.	.	.	5.65	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7486	0.85479	0.0:0.1293:0.8707:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WIPI2	5205816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.615000	0.90920	1.525000	0.49052	0.650000	0.86243	.		0.363	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610	Intron	5	174	0	0	0	0.001168	0	5	174				
NDUFA4	4697	broad.mit.edu	37	7	10978447	10978447	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:10978447T>A	ENST00000339600.5	-	2	317	c.119A>T	c.(118-120)aAt>aTt	p.N40I	NDUFA4_ENST00000492822.1_5'Flank|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	40					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)	p.N40I(1)		large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AACATCTGGATTGAACAATGC	0.393																																							uc003srx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)AAT>ATT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						80.0	83.0	82.0					7																	10978447		2203	4300	6503	SO:0001583	missense	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10978447T>A	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.119A>T	7.37:g.10978447T>A	ENSP00000339720:p.Asn40Ile						p.N40I	NM_002489	NP_002480	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	2	248	-			40					A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	c.119A>T	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	T	6.708	0.499272	0.12762	.	.	ENSG00000189043	ENST00000339600	D	0.82167	-1.58	4.97	2.54	0.30619	.	0.047558	0.85682	D	0.000000	D	0.86045	0.5839	.	.	.	0.49483	D	0.999798	P	0.38582	0.638	P	0.52554	0.702	T	0.82853	-0.0252	9	0.66056	D	0.02	-13.3822	7.1212	0.25446	0.0:0.0839:0.1468:0.7693	.	40	O00483	NDUA4_HUMAN	I	40	ENSP00000339720:N40I	ENSP00000339720:N40I	N	-	2	0	NDUFA4	10944972	1.000000	0.71417	0.999000	0.59377	0.109000	0.19521	2.183000	0.42565	0.110000	0.17919	-2.451000	0.00208	AAT		0.393	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		3	68	0	0	0	0.004672	0	3	68				
ETV1	2115	broad.mit.edu	37	7	13971169	13971169	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:13971169G>A	ENST00000430479.1	-	9	1427	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	ETV1_ENST00000405358.4_Silent_p.L268L|ETV1_ENST00000405218.2_Silent_p.L254L|ETV1_ENST00000343495.5_Silent_p.L236L|ETV1_ENST00000420159.2_Silent_p.L196L|ETV1_ENST00000403527.1_Silent_p.L214L|ETV1_ENST00000242066.5_Silent_p.L236L|ETV1_ENST00000399357.3_Silent_p.L151L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Silent_p.L254L|ETV1_ENST00000403685.1_Silent_p.L236L	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	254					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L254L(1)|p.L214L(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTAATCATCAGAGGAGGGGGA	0.512			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																		uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	2	Substitution - coding silent(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(760-762)CTG>TTG		ets variant gene 1 isoform a							90.0	90.0	90.0					7																	13971169		1935	4131	6066	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971169G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.760C>T	7.37:g.13971169G>A						ETV1_uc011jxn.1_Silent_p.L214L|ETV1_uc011jxo.1_Silent_p.L151L|ETV1_uc011jxp.1_Silent_p.L196L|ETV1_uc003ssw.3_Silent_p.L254L|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.L236L|ETV1_uc011jxs.1_Silent_p.L236L|ETV1_uc010ktv.2_Silent_p.L123L	p.L254L	NM_004956	NP_004947	P50549	ETV1_HUMAN			9	1499	-			254					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.760C>T	CCDS55088.1																																																																																				0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		7	67	0	0	0	0.00308	0	7	67				
HOXA7	3204	broad.mit.edu	37	7	27196009	27196009	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27196009C>G	ENST00000242159.3	-	1	289	c.156G>C	c.(154-156)ccG>ccC	p.P52P	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.21_ENST00000602610.1_lincRNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	52					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P52P(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGTATAAGCCCGGAACGGTCG	0.642																																							uc003sys.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)CCG>CCC		homeobox A7							40.0	53.0	49.0					7																	27196009		2199	4296	6495	SO:0001819	synonymous_variant	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196009C>G		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.156G>C	7.37:g.27196009C>G							p.P52P	NM_006896	NP_008827	P31268	HXA7_HUMAN			1	288	-			52					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Silent	SNP	ENST00000242159.3	37	c.156G>C	CCDS5408.1																																																																																				0.642	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			8	90	0	0	0	0.004482	0	8	90				
HOXA10	3206	broad.mit.edu	37	7	27213858	27213858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27213858C>A	ENST00000283921.4	-	1	67	c.68G>T	c.(67-69)aGc>aTc	p.S23I	HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	23					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)	p.S6I(1)|p.S23I(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CGCGGCGGGGCTCTCCGAGCA	0.597																																							uc011jzm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(67-69)AGC>ATC		homeobox A10 isoform a							47.0	52.0	51.0					7																	27213858		1137	2581	3718	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213858C>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.68G>T	7.37:g.27213858C>A	ENSP00000283921:p.Ser23Ile					HOXA10_uc003syw.3_Intron	p.S23I	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	98	-			23					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.68G>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930811	0.73327	.	.	ENSG00000253293	ENST00000283921;ENST00000381834	T	0.58940	0.3	5.28	5.28	0.74379	.	0.257963	0.31347	N	0.007818	T	0.71921	0.3397	M	0.85630	2.765	0.80722	D	1	D	0.54397	0.966	P	0.49665	0.618	T	0.78866	-0.2035	10	0.87932	D	0	.	18.9074	0.92467	0.0:1.0:0.0:0.0	.	23	P31260	HXA10_HUMAN	I	23;6	ENSP00000283921:S23I	ENSP00000283921:S23I	S	-	2	0	HOXA10	27180383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.556000	0.60775	2.441000	0.82636	0.561000	0.74099	AGC		0.597	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			8	25	1	0	0.000673444	0.008291	0.000742355	8	25				
EVX1	2128	broad.mit.edu	37	7	27284799	27284799	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27284799G>T	ENST00000496902.4	+	2	1046	c.560G>T	c.(559-561)cGc>cTc	p.R187L	EVX1_ENST00000535619.1_Missense_Mutation_p.R5L|EVX1_ENST00000222761.3_Missense_Mutation_p.A169S|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	187					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R187L(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGTCGTTACCGCACCGCCTTC	0.662																																							uc003szd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(559-561)CGC>CTC		even-skipped homeobox 1							42.0	46.0	45.0					7																	27284799		2203	4300	6503	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27284799G>T		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.560G>T	7.37:g.27284799G>T	ENSP00000419266:p.Arg187Leu					EVX1_uc011jzn.1_Missense_Mutation_p.R5L|EVX1_uc010kuy.1_Missense_Mutation_p.A169S	p.R187L	NM_001989	NP_001980	P49640	EVX1_HUMAN			2	1046	+			187			Homeobox.		A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.560G>T	CCDS5413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.894998|5.894998	0.97074|0.97074	.|.	.|.	ENSG00000106038|ENSG00000106038	ENST00000222761|ENST00000496902;ENST00000535619	.|D;D	.|0.99158	.|-5.5;-5.5	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99661|0.99661	0.9874|0.9874	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	P|D	0.43701|0.89917	0.815|1.0	B|D	0.38985|0.97110	0.287|1.0	D|D	0.97341|0.97341	0.9957|0.9957	8|10	0.66056|0.87932	D|D	0.02|0	-25.238|-25.238	19.1941|19.1941	0.93679|0.93679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	169|187	F8W9J5|P49640	.|EVX1_HUMAN	S|L	169|187;5	.|ENSP00000419266:R187L;ENSP00000446458:R5L	ENSP00000222761:A169S|ENSP00000419266:R187L	A|R	+|+	1|2	0|0	EVX1|EVX1	27251324|27251324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.841000|9.841000	0.99482|0.99482	2.542000|2.542000	0.85734|0.85734	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.662	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			22	84	1	0	1.55469e-16	0.00333	2.32836e-16	22	84				
HECW1	23072	broad.mit.edu	37	7	43484383	43484383	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:43484383C>A	ENST00000395891.2	+	11	2217	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	HECW1_ENST00000453890.1_Missense_Mutation_p.P538T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					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.P538T(1)|p.P517T(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						CTGCTCCTTGCCTGTGTCCGA	0.657																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1612-1614)CCT>ACT		NEDD4-like ubiquitin-protein ligase 1							38.0	47.0	44.0					7																	43484383		2109	4228	6337	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484383C>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.1612C>A	7.37:g.43484383C>A	ENSP00000379228:p.Pro538Thr					HECW1_uc011kbi.1_Missense_Mutation_p.P538T	p.P538T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2217	+			538					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1612C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449146	0.26074	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63417	1.08;-0.04	5.32	3.49	0.39957	.	1.104460	0.06890	N	0.804018	T	0.65333	0.2681	L	0.59436	1.845	0.51482	D	0.999925	P;P	0.43352	0.804;0.804	B;B	0.41412	0.356;0.356	T	0.57487	-0.7803	10	0.49607	T	0.09	.	15.6556	0.77133	0.0:0.7396:0.2603:0.0	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	T	538	ENSP00000379228:P538T;ENSP00000407774:P538T	ENSP00000265522:P538T	P	+	1	0	HECW1	43450908	1.000000	0.71417	0.008000	0.14137	0.222000	0.24845	4.696000	0.61774	0.597000	0.29811	-0.175000	0.13238	CCT		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		14	48	1	0	1.15088e-07	0.004007	1.42432e-07	14	48				
CCM2	83605	broad.mit.edu	37	7	45108125	45108125	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:45108125G>A	ENST00000258781.6	+	5	705	c.556G>A	c.(556-558)Gca>Aca	p.A186T	CCM2_ENST00000381112.3_Missense_Mutation_p.A207T|CCM2_ENST00000475551.1_Missense_Mutation_p.A180T|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Missense_Mutation_p.A128T|CCM2_ENST00000544363.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	186	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)		p.A207T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GTCGGAGAGTGCAGTTGGGCC	0.612																																							uc003tmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GCA>ACA		cerebral cavernous malformation 2 isoform 2							98.0	90.0	93.0					7																	45108125		2203	4300	6503	SO:0001583	missense	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45108125G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.556G>A	7.37:g.45108125G>A	ENSP00000258781:p.Ala186Thr					CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.A128T|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Missense_Mutation_p.A149T|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.A207T	p.A186T	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			5	702	+			186			PID.		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.556G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400979	0.42613	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000475551;ENST00000381112	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.74	2.91	0.33838	Phosphotyrosine interaction domain (1);	0.117112	0.64402	N	0.000018	T	0.24431	0.0592	N	0.14661	0.345	0.33493	D	0.588888	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.003;0.001	T	0.16453	-1.0402	10	0.39692	T	0.17	-6.759	9.8901	0.41285	0.1685:0.0:0.8315:0.0	.	149;207;128;186	B7Z8D5;E9PDJ3;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	T	186;128;180;207	ENSP00000258781:A186T;ENSP00000444725:A128T;ENSP00000417180:A180T;ENSP00000370503:A207T	ENSP00000258781:A186T	A	+	1	0	CCM2	45074650	1.000000	0.71417	0.156000	0.22583	0.982000	0.71751	3.564000	0.53791	0.424000	0.26061	0.561000	0.74099	GCA		0.612	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		4	91	0	0	0	0.000602	0	4	91				
UPP1	7378	broad.mit.edu	37	7	48142902	48142902	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:48142902G>T	ENST00000331803.4	+	7	953	c.330G>T	c.(328-330)atG>atT	p.M110I	UPP1_ENST00000395564.4_Missense_Mutation_p.M110I|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.M110I			Q16831	UPP1_HUMAN	uridine phosphorylase 1	110					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.M110I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGCATGGTATGGGCATTCCTT	0.453																																							uc003toj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(328-330)ATG>ATT		uridine phosphorylase 1							160.0	138.0	146.0					7																	48142902		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48142902G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.330G>T	7.37:g.48142902G>T	ENSP00000330032:p.Met110Ile					UPP1_uc003tok.2_Missense_Mutation_p.M110I|UPP1_uc003tol.2_Missense_Mutation_p.M110I|UPP1_uc011kcg.1_Missense_Mutation_p.M110I|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	p.M110I	NM_181597	NP_853628	Q16831	UPP1_HUMAN			7	859	+			110					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.330G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889287	0.52014	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.43	4.55	0.56014	Nucleoside phosphorylase, conserved site (1);Nucleoside phosphorylase domain (1);	0.072305	0.85682	N	0.000000	D	0.82563	0.5064	L	0.46947	1.48	0.80722	D	1	B;B	0.20988	0.045;0.05	B;B	0.30782	0.12;0.11	T	0.77900	-0.2415	10	0.34782	T	0.22	-33.051	15.1302	0.72517	0.0:0.1506:0.8494:0.0	.	110;110	B4DND0;Q16831	.;UPP1_HUMAN	I	110	ENSP00000405209:M110I;ENSP00000330032:M110I;ENSP00000342878:M110I;ENSP00000378931:M110I;ENSP00000390118:M110I	ENSP00000330032:M110I	M	+	3	0	UPP1	48109427	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.488000	0.73637	1.262000	0.44165	0.563000	0.77884	ATG		0.453	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		11	71	1	0	5.50884e-06	0.001368	6.51169e-06	11	71				
ABCA13	154664	broad.mit.edu	37	7	48390351	48390351	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:48390351T>A	ENST00000435803.1	+	30	10340	c.10316T>A	c.(10315-10317)cTg>cAg	p.L3439Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3439					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L3439Q(1)|p.L3384Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCAGGCTCTGCAGTCTGTC	0.488																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10315-10317)CTG>CAG		ATP binding cassette, sub-family A (ABC1),							104.0	103.0	103.0					7																	48390351		2043	4202	6245	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390351T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10316T>A	7.37:g.48390351T>A	ENSP00000411096:p.Leu3439Gln					ABCA13_uc010kys.1_Missense_Mutation_p.L513Q|ABCA13_uc003tos.1_Missense_Mutation_p.L265Q	p.L3439Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			30	10341	+			3439					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10316T>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852632	0.32699	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	2.2	0.27929	.	0.382752	0.18900	N	0.128051	T	0.82245	0.4995	M	0.61703	1.905	0.09310	N	0.999993	B;P	0.42203	0.25;0.773	B;P	0.44518	0.241;0.452	T	0.73522	-0.3956	10	0.62326	D	0.03	.	4.7086	0.12861	0.1664:0.0904:0.0:0.7432	.	1141;3439	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	3439	ENSP00000411096:L3439Q	ENSP00000411096:L3439Q	L	+	2	0	ABCA13	48360897	0.951000	0.32395	0.008000	0.14137	0.744000	0.42396	1.568000	0.36418	0.153000	0.19213	0.533000	0.62120	CTG		0.488	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	93	0	0	0	0.002299	0	22	93				
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87022321G>T	ENST00000331536.3	+	17	1841	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	CROT_ENST00000442291.1_Missense_Mutation_p.Q552H|CROT_ENST00000419147.2_Missense_Mutation_p.Q580H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418																																							uc003uit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(1654-1656)CAG>CAT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						199.0	196.0	197.0					7																	87022321		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87022321G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1656G>T	7.37:g.87022321G>T	ENSP00000331981:p.Gln552His					CROT_uc003uiu.2_Missense_Mutation_p.Q580H	p.Q552H	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			17	1901	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		552					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1656G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245594	0.22796	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	T;T;T	0.41758	0.99;0.99;0.99	6.17	-0.147	0.13428	.	0.566392	0.19644	N	0.109391	T	0.15305	0.0369	N	0.10733	0.035	0.34161	D	0.668631	B;B	0.14012	0.001;0.009	B;B	0.12837	0.006;0.008	T	0.11494	-1.0585	10	0.15066	T	0.55	-5.7265	2.0426	0.03553	0.2542:0.1726:0.4386:0.1346	.	580;552	E7EQF2;Q9UKG9	.;OCTC_HUMAN	H	580;552;552	ENSP00000413575:Q580H;ENSP00000331981:Q552H;ENSP00000411983:Q552H	ENSP00000331981:Q552H	Q	+	3	2	CROT	86860257	0.760000	0.28428	0.963000	0.40424	0.985000	0.73830	0.350000	0.20079	0.188000	0.20168	0.655000	0.94253	CAG		0.418	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		68	262	1	0	2.40655e-23	0.00361	3.85374e-23	68	262				
ABCB4	5244	broad.mit.edu	37	7	87032462	87032462	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87032462C>T	ENST00000265723.4	-	27	3754	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	ABCB4_ENST00000358400.3_Missense_Mutation_p.E1161K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1208K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1161K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1208K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E1208K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTTCACTTTCAGTATCCAGA	0.428																																							uc003uiv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(3643-3645)GAA>AAA		ATP-binding cassette, subfamily B, member 4							155.0	139.0	144.0					7																	87032462		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87032462C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3643G>A	7.37:g.87032462C>T	ENSP00000265723:p.Glu1215Lys					ABCB4_uc003uiw.1_Missense_Mutation_p.E1208K|ABCB4_uc003uix.1_Missense_Mutation_p.E1161K	p.E1215K	NM_018849	NP_061337	P21439	MDR3_HUMAN			27	3719	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1215			ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3643G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538401	0.85917	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.41	4.51	0.55191	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050039	0.85682	D	0.000000	D	0.85995	0.5827	L	0.35341	1.055	0.80722	D	1	D;P;P	0.56746	0.977;0.919;0.867	P;P;P	0.55749	0.661;0.783;0.611	D	0.87922	0.2704	10	0.87932	D	0	-18.0621	16.3596	0.83257	0.0:0.8679:0.1321:0.0	.	1161;1208;1215	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	1208;1161;1215;1161;1208	ENSP00000352135:E1208K;ENSP00000351172:E1161K;ENSP00000265723:E1215K;ENSP00000392983:E1161K;ENSP00000437465:E1208K	ENSP00000265723:E1215K	E	-	1	0	ABCB4	86870398	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	6.026000	0.70873	1.372000	0.46190	0.561000	0.74099	GAA		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		46	218	0	0	0	0.00361	0	46	218				
ABCB1	5243	broad.mit.edu	37	7	87179872	87179872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87179872G>T	ENST00000265724.3	-	12	1553	c.1136C>A	c.(1135-1137)tCg>tAg	p.S379*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.S315*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	379					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S379*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCCACTCTTCGAATAGCTGTC	0.333																																							uc003uiz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1135-1137)TCG>TAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						92.0	89.0	90.0					7																	87179872		2203	4300	6503	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179872G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1136C>A	7.37:g.87179872G>T	ENSP00000265724:p.Ser379*					ABCB1_uc011khc.1_Nonsense_Mutation_p.S315*	p.S379*	NM_000927	NP_000918	P08183	MDR1_HUMAN			12	1554	-	Esophageal squamous(14;0.00164)		379			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.1136C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	42	9.735009	0.99251	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6178	20.4496	0.99125	0.0:0.0:1.0:0.0	.	.	.	.	X	160;379;315	.	ENSP00000265724:S379X	S	-	2	0	ABCB1	87017808	1.000000	0.71417	0.939000	0.37840	0.922000	0.55478	9.491000	0.97954	2.838000	0.97847	0.563000	0.77884	TCG		0.333	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		18	90	1	0	1.99824e-07	0.00499	2.46017e-07	18	90				
ZNF804B	219578	broad.mit.edu	37	7	88962744	88962744	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:88962744A>T	ENST00000333190.4	+	4	1057	c.448A>T	c.(448-450)Att>Ttt	p.I150F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	150							metal ion binding (GO:0046872)	p.I150F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAGCAAGGAATTTTCCCCAT	0.393										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(448-450)ATT>TTT		zinc finger protein 804B							51.0	52.0	52.0					7																	88962744		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962744A>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.448A>T	7.37:g.88962744A>T	ENSP00000329638:p.Ile150Phe	HNSCC(36;0.09)					p.I150F	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	986	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		150					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.448A>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497798	0.26861	.	.	ENSG00000182348	ENST00000333190	T	0.05925	3.37	5.4	3.02	0.34903	.	0.415614	0.23091	N	0.052038	T	0.03608	0.0103	N	0.16478	0.41	0.35607	D	0.808306	B	0.28760	0.221	B	0.23716	0.048	T	0.41680	-0.9495	10	0.39692	T	0.17	-6.4821	5.4797	0.16717	0.6669:0.0:0.1544:0.1788	.	150	A4D1E1	Z804B_HUMAN	F	150	ENSP00000329638:I150F	ENSP00000329638:I150F	I	+	1	0	ZNF804B	88800680	0.994000	0.37717	1.000000	0.80357	0.882000	0.50991	0.520000	0.22878	1.070000	0.40811	0.528000	0.53228	ATT		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		18	52	0	0	0	0.007413	0	18	52				
ZNF804B	219578	broad.mit.edu	37	7	88966056	88966056	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:88966056A>G	ENST00000333190.4	+	4	4369	c.3760A>G	c.(3760-3762)Acc>Gcc	p.T1254A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1254							metal ion binding (GO:0046872)	p.T1254A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGACTCCAACCATTATCCC	0.478										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3760-3762)ACC>GCC		zinc finger protein 804B							225.0	187.0	200.0					7																	88966056		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966056A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3760A>G	7.37:g.88966056A>G	ENSP00000329638:p.Thr1254Ala	HNSCC(36;0.09)					p.T1254A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4298	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1254					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3760A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	3.868	-0.028494	0.07589	.	.	ENSG00000182348	ENST00000333190	T	0.04406	3.63	5.16	-2.45	0.06481	.	0.530450	0.18287	N	0.145828	T	0.02012	0.0063	N	0.11064	0.09	0.27947	N	0.937303	B	0.06786	0.001	B	0.06405	0.002	T	0.47522	-0.9111	10	0.10902	T	0.67	-0.1192	7.6171	0.28165	0.3233:0.1366:0.5401:0.0	.	1254	A4D1E1	Z804B_HUMAN	A	1254	ENSP00000329638:T1254A	ENSP00000329638:T1254A	T	+	1	0	ZNF804B	88803992	0.088000	0.21588	0.920000	0.36463	0.586000	0.36452	0.355000	0.20163	-0.328000	0.08539	0.459000	0.35465	ACC		0.478	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		8	211	0	0	0	0.001368	0	8	211				
STEAP1	26872	broad.mit.edu	37	7	89790136	89790136	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:89790136G>C	ENST00000297205.2	+	3	302	c.102G>C	c.(100-102)gaG>gaC	p.E34D	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	34					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.E34D(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ACACGGGAGAGACCAGCATGC	0.388																																							uc003ujx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(100-102)GAG>GAC		six transmembrane epithelial antigen of the							100.0	97.0	98.0					7																	89790136		2203	4300	6503	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790136G>C	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.102G>C	7.37:g.89790136G>C	ENSP00000297205:p.Glu34Asp					STEAP1_uc010lem.2_Missense_Mutation_p.E34D	p.E34D	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			3	302	+	all_hematologic(106;0.112)		34					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.102G>C	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783116	0.16189	.	.	ENSG00000164647	ENST00000297205	T	0.06768	3.26	5.02	-2.2	0.06994	.	0.196207	0.35585	N	0.003105	T	0.05456	0.0144	L	0.55990	1.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36311	-0.9753	10	0.19147	T	0.46	-1.9553	1.0007	0.01476	0.2333:0.344:0.1911:0.2316	.	34;34	B4E221;Q9UHE8	.;STEA1_HUMAN	D	34	ENSP00000297205:E34D	ENSP00000297205:E34D	E	+	3	2	STEAP1	89628072	0.000000	0.05858	0.215000	0.23724	0.924000	0.55760	-0.336000	0.07863	-0.219000	0.10003	0.655000	0.94253	GAG		0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		19	154	0	0	0	0.010504	0	19	154				
SAMD9	54809	broad.mit.edu	37	7	92733059	92733059	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:92733059C>A	ENST00000379958.2	-	3	2621	c.2352G>T	c.(2350-2352)ggG>ggT	p.G784G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	784						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.G784G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTCATTGCCCCATAGGTGA	0.388																																							uc003umf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2350-2352)GGG>GGT		sterile alpha motif domain containing 9							124.0	120.0	122.0					7																	92733059		2203	4299	6502	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92733059C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2352G>T	7.37:g.92733059C>A						SAMD9_uc003umg.2_Silent_p.G784G	p.G784G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2608	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		784					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.2352G>T	CCDS34680.1																																																																																				0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		37	168	1	0	2.52637e-11	0.005524	3.52206e-11	37	168				
TRRAP	8295	broad.mit.edu	37	7	98574387	98574387	+	Silent	SNP	G	G	T	rs538854983		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:98574387G>T	ENST00000359863.4	+	54	8429	c.8220G>T	c.(8218-8220)ccG>ccT	p.P2740P	TRRAP_ENST00000355540.3_Silent_p.P2722P|TRRAP_ENST00000446306.3_Silent_p.P2722P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2740	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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.P2722P(1)|p.P2740P(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)			TCACCCCGCCGCAGCAGGTGA	0.478																																							uc003upp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(8218-8220)CCG>CCT		transformation/transcription domain-associated							43.0	49.0	47.0					7																	98574387		2199	4297	6496	SO:0001819	synonymous_variant	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.chr7:98574387G>T	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	ENST00000359863.4:c.8220G>T	7.37:g.98574387G>T						TRRAP_uc011kis.1_Silent_p.P2722P|TRRAP_uc003upr.2_Silent_p.P2439P	p.P2740P	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		54	8429	+	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)		2740			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.8220G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	1.521	-0.546885	0.04024	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45512	-0.9256	4	.	.	.	.	2.9933	0.05990	0.2863:0.39:0.1625:0.1613	.	.	.	.	L	2462	.	.	R	+	2	0	TRRAP	98412323	0.000000	0.05858	0.153000	0.22517	0.339000	0.28857	-3.004000	0.00651	-3.244000	0.00206	-1.475000	0.01000	CGC		0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	84	1	0	1.58986e-06	0.008291	1.91511e-06	10	84				
AZGP1	563	broad.mit.edu	37	7	99565973	99565973	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:99565973C>T	ENST00000292401.4	-	3	554	c.418G>A	c.(418-420)Gat>Aat	p.D140N	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Missense_Mutation_p.D137N	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	140					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.D140N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCTTTCCATCATAGTAATAT	0.498																																							uc003ush.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(418-420)GAT>AAT		alpha-2-glycoprotein 1, zinc							194.0	208.0	203.0					7																	99565973		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565973C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.418G>A	7.37:g.99565973C>T	ENSP00000292401:p.Asp140Asn						p.D140N	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	462	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		140					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.418G>A	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704079	0.30232	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.90732	-2.72;-2.72	2.76	2.76	0.32466	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.33075	U	0.005317	D	0.90511	0.7027	M	0.86420	2.815	0.41902	D	0.990423	P	0.35807	0.522	B	0.34779	0.189	D	0.91654	0.5337	10	0.87932	D	0	.	11.6654	0.51370	0.0:1.0:0.0:0.0	.	140	P25311	ZA2G_HUMAN	N	140;137	ENSP00000292401:D140N;ENSP00000396093:D137N	ENSP00000292401:D140N	D	-	1	0	AZGP1	99403909	0.999000	0.42202	0.063000	0.19743	0.003000	0.03518	4.515000	0.60489	1.464000	0.47987	0.313000	0.20887	GAT		0.498	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		8	474	0	0	0	0.004482	0	8	474				
MUC17	140453	broad.mit.edu	37	7	100685732	100685733	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:100685732_100685733CC>AA	ENST00000306151.4	+	3	11099_11100	c.11035_11036CC>AA	c.(11035-11037)CCt>AAt	p.P3679N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3679	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.P3679N(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)					TCCTGTGACTCCTGAAGGTACC	0.52																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11035-11037)CCT>AAT		mucin 17 precursor																																				SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685732_100685733CC>AA	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	Exception_encountered	7.37:g.100685732_100685733delinsAA	ENSP00000302716:p.Pro3679Asn					MUC17_uc010lho.1_RNA	p.P3679N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11088_11089	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3679			Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	DNP	ENST00000306151.4	37	c.11035_11036CC>AA	CCDS34711.1																																																																																				0.520	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	239	0	0	0	0.004672	0	6	239				
SLC26A3	1811	broad.mit.edu	37	7	107431513	107431513	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:107431513C>A	ENST00000340010.5	-	5	734	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V149L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	184					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.V184L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGAAAGCACTGTGACTGAT	0.488																																							uc003ver.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(550-552)GTG>TTG		solute carrier family 26, member 3							75.0	65.0	68.0					7																	107431513		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431513C>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.550G>T	7.37:g.107431513C>A	ENSP00000345873:p.Val184Leu					SLC26A3_uc003ves.2_Missense_Mutation_p.V149L	p.V184L	NM_000111	NP_000102	P40879	S26A3_HUMAN			5	761	-			184			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.550G>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	2.167	-0.390829	0.04932	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.91894	-2.9;-2.93	5.69	-11.4	0.00090	.	0.777454	0.12465	N	0.466499	T	0.74023	0.3662	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.003;0.005	T	0.65026	-0.6268	10	0.10111	T	0.7	.	3.1927	0.06623	0.2636:0.4517:0.0606:0.2241	.	149;184	G5E9U3;P40879	.;S26A3_HUMAN	L	149;184	ENSP00000415817:V149L;ENSP00000345873:V184L	ENSP00000345873:V184L	V	-	1	0	SLC26A3	107218749	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.256000	0.02869	-2.037000	0.00920	-1.047000	0.02352	GTG		0.488	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		5	41	1	0	0.00116845	0.001168	0.00127467	5	41				
PTPRZ1	5803	broad.mit.edu	37	7	121668644	121668644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:121668644G>T	ENST00000393386.2	+	14	5438	c.5027G>T	c.(5026-5028)aGt>aTt	p.S1676I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S816I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1676					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.S1676I(1)		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						TTAGAGGACAGTACATCCCCT	0.378																																							uc003vjy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5026-5028)AGT>ATT		protein tyrosine phosphatase, receptor-type,							189.0	159.0	169.0					7																	121668644		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.chr7:121668644G>T	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.5027G>T	7.37:g.121668644G>T	ENSP00000377047:p.Ser1676Ile					PTPRZ1_uc003vjz.2_Missense_Mutation_p.S816I|PTPRZ1_uc011knt.1_Missense_Mutation_p.S266I	p.S1676I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			14	5422	+			1676			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5027G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696254	0.68386	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77229	0.85;-1.08	5.8	4.91	0.64330	.	0.142348	0.49916	D	0.000129	T	0.73713	0.3622	L	0.27053	0.805	0.30993	N	0.721171	P;P;P	0.49783	0.912;0.928;0.918	P;P;P	0.54759	0.76;0.65;0.451	T	0.75235	-0.3389	10	0.87932	D	0	.	6.4972	0.22148	0.3107:0.0:0.6893:0.0	.	815;816;1676	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1676;816	ENSP00000377047:S1676I;ENSP00000410000:S816I	ENSP00000377047:S1676I	S	+	2	0	PTPRZ1	121455880	1.000000	0.71417	0.971000	0.41717	0.898000	0.52572	2.633000	0.46519	1.439000	0.47511	0.650000	0.86243	AGT		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		39	112	1	0	1.07121e-22	0.006999	1.69817e-22	39	112				
AASS	10157	broad.mit.edu	37	7	121738539	121738539	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:121738539C>T	ENST00000393376.1	-	14	1715	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.L540L			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	540	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.L540L(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCAAGAAGCCCAGCTTCTCTT	0.338																																							uc003vka.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1618-1620)CTG>CTA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						129.0	128.0	128.0					7																	121738539		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738539C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1620G>A	7.37:g.121738539C>T						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.L540L|AASS_uc011knw.1_Silent_p.L28L	p.L540L	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			14	1716	-			540			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1620G>A	CCDS5783.1																																																																																				0.338	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		6	72	0	0	0	0.001984	0	6	72				
WASL	8976	broad.mit.edu	37	7	123346396	123346396	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:123346396T>C	ENST00000223023.4	-	4	703	c.371A>G	c.(370-372)gAa>gGa	p.E124G		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	124	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.E124G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCTTCTTCTTCATTGGCAAA	0.333																																							uc003vkz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GAA>GGA		Wiskott-Aldrich syndrome gene-like protein							56.0	56.0	56.0					7																	123346396		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123346396T>C	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.371A>G	7.37:g.123346396T>C	ENSP00000223023:p.Glu124Gly						p.E124G	NM_003941	NP_003932	O00401	WASL_HUMAN			4	699	-			124			WH1.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.371A>G	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	T	31	5.104455	0.94245	.	.	ENSG00000106299	ENST00000223023	D	0.99680	-6.38	5.58	5.58	0.84498	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97305	0.9933	10	0.72032	D	0.01	-29.0251	16.0507	0.80760	0.0:0.0:0.0:1.0	.	124	O00401	WASL_HUMAN	G	124	ENSP00000223023:E124G	ENSP00000223023:E124G	E	-	2	0	WASL	123133632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.425000	0.80255	2.243000	0.73865	0.528000	0.53228	GAA		0.333	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		6	38	0	0	0	0.001984	0	6	38				
SPAM1	6677	broad.mit.edu	37	7	123594227	123594227	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:123594227A>G	ENST00000439500.1	+	4	1216	c.603A>G	c.(601-603)gtA>gtG	p.V201V	SPAM1_ENST00000460182.1_Silent_p.V201V|SPAM1_ENST00000223028.7_Silent_p.V201V|SPAM1_ENST00000402183.2_Silent_p.V201V|SPAM1_ENST00000340011.5_Silent_p.V201V	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	201					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.V201V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTTCCTGGTAGAGACTATAA	0.383																																							uc003vld.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)	4						c.(601-603)GTA>GTG		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						69.0	75.0	73.0					7																	123594227		2203	4300	6503	SO:0001819	synonymous_variant	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594227A>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.603A>G	7.37:g.123594227A>G						SPAM1_uc003vle.2_Silent_p.V201V|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.V201V|SPAM1_uc010lku.2_Silent_p.V201V	p.V201V	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1005	+			201					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.603A>G	CCDS5791.1																																																																																				0.383	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			14	103	0	0	0	0.00245	0	14	103				
GCC1	79571	broad.mit.edu	37	7	127225205	127225205	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:127225205C>T	ENST00000321407.2	-	1	456	c.32G>A	c.(31-33)gGc>gAc	p.G11D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	11					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.G11D(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTTGCTCGGGCCGCCCCCGAA	0.572											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003vma.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(31-33)GGC>GAC		Golgi coiled-coil protein 1							63.0	69.0	67.0					7																	127225205		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225205C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.32G>A	7.37:g.127225205C>T	ENSP00000318821:p.Gly11Asp		OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555		p.G11D	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	450	-			11					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.32G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951442	0.92660	.	.	ENSG00000179562	ENST00000321407	T	0.19938	2.11	5.67	5.67	0.87782	.	0.052896	0.85682	D	0.000000	T	0.45054	0.1323	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.29518	-1.0009	10	0.72032	D	0.01	-21.7538	17.2701	0.87098	0.0:1.0:0.0:0.0	.	11	Q96CN9	GCC1_HUMAN	D	11	ENSP00000318821:G11D	ENSP00000318821:G11D	G	-	2	0	GCC1	127012441	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.302000	0.78861	2.687000	0.91594	0.563000	0.77884	GGC		0.572	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		14	115	0	0	0	0.004007	0	14	115				
FSCN3	29999	broad.mit.edu	37	7	127236391	127236391	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:127236391T>A	ENST00000265825.5	+	3	1070	c.851T>A	c.(850-852)gTg>gAg	p.V284E	FSCN3_ENST00000420086.2_Missense_Mutation_p.V150E|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	284						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V284E(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGTGAGGTGCGTGCTGCT	0.552																																							uc003vmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)GTG>GAG		fascin 3							240.0	207.0	218.0					7																	127236391		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236391T>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.851T>A	7.37:g.127236391T>A	ENSP00000265825:p.Val284Glu					FSCN3_uc011koh.1_Missense_Mutation_p.V150E|FSCN3_uc010llc.1_Missense_Mutation_p.V284E	p.V284E	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			3	1070	+			284					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.851T>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485438	0.44147	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.60797	0.81;0.16	5.46	4.29	0.51040	Fascin domain (1);Actin cross-linking (1);	0.576251	0.15666	N	0.250649	T	0.67869	0.2939	M	0.64997	1.995	0.29229	N	0.873386	D;D	0.60160	0.987;0.967	P;P	0.62184	0.899;0.826	T	0.63804	-0.6554	10	0.87932	D	0	-16.6046	8.4119	0.32648	0.0:0.0928:0.0:0.9072	.	150;284	B4DU68;Q9NQT6	.;FSCN3_HUMAN	E	284;150	ENSP00000265825:V284E;ENSP00000412243:V150E	ENSP00000265825:V284E	V	+	2	0	FSCN3	127023627	0.989000	0.36119	0.446000	0.26920	0.036000	0.12997	2.500000	0.45381	2.197000	0.70478	0.533000	0.62120	GTG		0.552	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		32	235	0	0	0	0.009535	0	32	235				
PLXNA4	91584	broad.mit.edu	37	7	131908336	131908336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:131908336G>A	ENST00000359827.3	-	9	3009	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H683Y			Q9HCM2	PLXA4_HUMAN	plexin A4	683	PSI 2.				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.H683Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGGGGTCATGGGTGCAGACA	0.592																																							uc003vra.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2047-2049)CAT>TAT		plexin A4 isoform 1							45.0	48.0	47.0					7																	131908336		2093	4243	6336	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131908336G>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.2047C>T	7.37:g.131908336G>A	ENSP00000352882:p.His683Tyr						p.H683Y	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			9	2276	-			683			PSI 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2047C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694292	0.88735	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16597	2.33;2.33	5.8	4.91	0.64330	.	0.047074	0.85682	D	0.000000	T	0.35770	0.0943	M	0.77820	2.39	0.80722	D	1	D	0.64830	0.994	P	0.54210	0.745	T	0.20907	-1.0261	10	0.37606	T	0.19	.	16.4282	0.83831	0.0:0.1319:0.8681:0.0	.	683	Q9HCM2	PLXA4_HUMAN	Y	683	ENSP00000323194:H683Y;ENSP00000352882:H683Y	ENSP00000323194:H683Y	H	-	1	0	PLXNA4	131558876	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	7.755000	0.85180	1.433000	0.47394	0.655000	0.94253	CAT		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	36	0	0	0	0.001168	0	4	36				
PLXNA4	91584	broad.mit.edu	37	7	132174174	132174174	+	Silent	SNP	G	G	T	rs374767499		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:132174174G>T	ENST00000359827.3	-	3	2210	c.1248C>A	c.(1246-1248)tcC>tcA	p.S416S	PLXNA4_ENST00000423507.2_Silent_p.S416S|PLXNA4_ENST00000378539.5_Silent_p.S416S|PLXNA4_ENST00000321063.4_Silent_p.S416S			Q9HCM2	PLXA4_HUMAN	plexin A4	416	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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.S416S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACCATGTCGGACACTCCCA	0.493																																							uc003vra.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1246-1248)TCC>TCA		plexin A4 isoform 1							89.0	77.0	81.0					7																	132174174		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132174174G>T	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.1248C>A	7.37:g.132174174G>T						PLXNA4_uc003vrc.2_Silent_p.S416S|PLXNA4_uc003vrb.2_Silent_p.S416S	p.S416S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			3	1477	-			416			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.1248C>A	CCDS43646.1																																																																																				0.493	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	31	1	0	4.7546e-09	0.004007	6.20849e-09	15	31				
AKR1B15	441282	broad.mit.edu	37	7	134252977	134252977	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:134252977G>C	ENST00000457545.2	+	4	478	c.218G>C	c.(217-219)tGt>tCt	p.C73S	AKR1B15_ENST00000423958.1_Missense_Mutation_p.C45S	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	73							oxidoreductase activity (GO:0016491)	p.C45S(2)|p.C73S(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CACATTGACTGTGCCTATTTC	0.473																																							uc011kpr.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(217-219)TGT>TCT		aldo-keto reductase family 1, member B15							116.0	120.0	118.0					7																	134252977		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134252977G>C		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.218G>C	7.37:g.134252977G>C	ENSP00000389289:p.Cys73Ser					AKR1B15_uc003vrt.2_Missense_Mutation_p.C45S|AKR1B15_uc011kps.1_Missense_Mutation_p.C45S	p.C73S	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			4	517	+			73					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.218G>C	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	8.895	0.954840	0.18431	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.22743	1.94;1.94	2.72	2.72	0.32119	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.32010	0.0815	L	0.56124	1.755	0.35948	D	0.833723	P;D;P	0.63046	0.864;0.992;0.952	P;P;P	0.58970	0.491;0.849;0.842	T	0.31833	-0.9929	9	0.23891	T	0.37	.	11.2294	0.48903	0.0:0.0:1.0:0.0	.	45;73;45	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	S	73;45	ENSP00000389289:C73S;ENSP00000397009:C45S	ENSP00000397009:C45S	C	+	2	0	AKR1B15	133903517	1.000000	0.71417	0.720000	0.30636	0.023000	0.10783	7.061000	0.76699	1.516000	0.48900	0.508000	0.49915	TGT		0.473	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			11	116	0	0	0	0.000978	0	11	116				
TBXAS1	6916	broad.mit.edu	37	7	139655295	139655295	+	Missense_Mutation	SNP	G	G	C	rs372058761		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:139655295G>C	ENST00000336425.5	+	11	966	c.577G>C	c.(577-579)Gtc>Ctc	p.V193L	TBXAS1_ENST00000414508.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V239L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.V126L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V240L|TBXAS1_ENST00000263552.6_Missense_Mutation_p.V194L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	193					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	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)|thromboxane-A synthase activity (GO:0004796)	p.V194L(1)|p.V240L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GGTTGCCAGCGTCGCCTTTGG	0.572																																							uc011kqv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(718-720)GTC>CTC		thromboxane A synthase 1, platelet isoform							102.0	103.0	102.0					7																	139655295		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655295G>C	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.577G>C	7.37:g.139655295G>C	ENSP00000338087:p.Val193Leu					TBXAS1_uc003vvh.2_Missense_Mutation_p.V194L|TBXAS1_uc010lne.2_Missense_Mutation_p.V126L|TBXAS1_uc011kqu.1_Missense_Mutation_p.V145L|TBXAS1_uc003vvi.2_Missense_Mutation_p.V194L|TBXAS1_uc003vvj.2_Missense_Mutation_p.V194L|TBXAS1_uc011kqw.1_Missense_Mutation_p.V174L	p.V240L	NM_001130966	NP_001124438	P24557	THAS_HUMAN			8	882	+	Melanoma(164;0.0142)		193			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.718G>C		.	.	.	.	.	.	.	.	.	.	G	8.750	0.921075	0.17982	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.79	1.73	0.24493	.	0.369424	0.30219	N	0.010127	T	0.61565	0.2357	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B;B;B	0.23937	0.027;0.094;0.05;0.093;0.091;0.007;0.007	B;B;B;B;B;B;B	0.33846	0.079;0.103;0.059;0.162;0.171;0.025;0.015	T	0.58352	-0.7651	10	0.56958	D	0.05	.	8.6256	0.33888	0.1299:0.3538:0.5163:0.0	.	174;240;145;126;194;194;193	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	L	126;194;193;240;194;194;193;239;193	ENSP00000388736:V126L;ENSP00000263552:V194L;ENSP00000338087:V193L;ENSP00000389414:V240L;ENSP00000392361:V194L;ENSP00000392702:V194L;ENSP00000402536:V193L;ENSP00000411274:V239L;ENSP00000411326:V193L	ENSP00000263552:V194L	V	+	1	0	TBXAS1	139301764	0.948000	0.32251	0.013000	0.15412	0.042000	0.13812	1.397000	0.34543	0.358000	0.24211	-0.127000	0.14921	GTC		0.572	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			29	133	0	0	0	0.003271	0	29	133				
MKRN1	23608	broad.mit.edu	37	7	140154936	140154936	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:140154936C>G	ENST00000255977.2	-	7	1419	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q|MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	399					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E399Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCTGTGGCTCCTCTCTACGG	0.488																																							uc003vvt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1195-1197)GAG>CAG		makorin ring finger protein 1 isoform 1							144.0	140.0	141.0					7																	140154936		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154936C>G	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1195G>C	7.37:g.140154936C>G	ENSP00000255977:p.Glu399Gln					MKRN1_uc003vvs.2_Missense_Mutation_p.E335Q|MKRN1_uc011krd.1_Missense_Mutation_p.E133Q	p.E399Q	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			7	1420	-	Melanoma(164;0.00956)		399					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.1195G>C	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.245350|4.245350	0.80024|0.80024	.|.	.|.	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576|ENST00000463142	T;T;T|.	0.44881|.	0.91;1.41;0.91|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75606|0.75606	0.3872|0.3872	M|M	0.66297|0.66297	2.02|2.02	0.52501|0.52501	D|D	0.999957|0.999957	P|.	0.41008|.	0.735|.	B|.	0.36666|.	0.23|.	T|T	0.78443|0.78443	-0.2202|-0.2202	10|6	0.48119|0.87932	T|D	0.1|0	.|.	18.4786|18.4786	0.90802|0.90802	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	399|.	Q9UHC7|.	MKRN1_HUMAN|.	Q|S	399;335;133;335|51	ENSP00000255977:E399Q;ENSP00000439823:E133Q;ENSP00000417863:E335Q|.	ENSP00000255977:E399Q|ENSP00000417346:R51S	E|R	-|-	1|3	0|2	MKRN1|MKRN1	139801405|139801405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.244000|7.244000	0.78228|0.78228	2.584000|2.584000	0.87258|0.87258	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.488	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		19	162	0	0	0	0.003271	0	19	162				
OR9A4	130075	broad.mit.edu	37	7	141619029	141619029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:141619029G>T	ENST00000548136.1	+	1	413	c.354G>T	c.(352-354)atG>atT	p.M118I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M118I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTGGAGCAATGGCTGTGGACC	0.478																																							uc003vwu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(352-354)ATG>ATT		olfactory receptor, family 9, subfamily A,							127.0	128.0	128.0					7																	141619029		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619029G>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.354G>T	7.37:g.141619029G>T	ENSP00000448789:p.Met118Ile						p.M118I	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	354	+	Melanoma(164;0.0171)		118			Helical; Name=3; (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.354G>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059294	0.36373	.	.	ENSG00000258083	ENST00000548136	T	0.01126	5.3	3.8	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09862	0.0242	H	0.95437	3.67	0.30498	N	0.770635	D	0.76494	0.999	D	0.72625	0.978	T	0.02813	-1.1107	9	0.72032	D	0.01	-41.8747	10.5334	0.44990	0.0:0.0:0.8047:0.1953	.	118	Q8NGU2	OR9A4_HUMAN	I	118	ENSP00000448789:M118I	ENSP00000386148:M118I	M	+	3	0	OR9A4	141265498	1.000000	0.71417	0.927000	0.36925	0.075000	0.17131	5.443000	0.66581	0.919000	0.36945	-0.181000	0.13052	ATG		0.478	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		83	152	1	0	2.13431e-38	0.00361	3.5311e-38	83	152				
EPHA1	2041	broad.mit.edu	37	7	143096454	143096454	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:143096454C>T	ENST00000275815.3	-	5	974	c.888G>A	c.(886-888)acG>acA	p.T296T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	296	Cys-rich.				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.T296T(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)				GCTGGGGGCACGTGAGACAAT	0.602																																							uc003wcz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(886-888)ACG>ACA		ephrin receptor EphA1 precursor							44.0	41.0	42.0					7																	143096454		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096454C>T	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.888G>A	7.37:g.143096454C>T							p.T296T	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	975	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	296			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.888G>A	CCDS5884.1																																																																																				0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			6	58	0	0	0	0.001984	0	6	58				
OR2A5	393046	broad.mit.edu	37	7	143747932	143747932	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:143747932C>T	ENST00000408906.2	+	1	472	c.438C>T	c.(436-438)gtC>gtT	p.V146V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V146V(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)					TCCTGGCTGTCACTTCTTGGG	0.522																																							uc011ktw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(436-438)GTC>GTT		olfactory receptor, family 2, subfamily A,							192.0	201.0	198.0					7																	143747932		2137	4250	6387	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747932C>T	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.438C>T	7.37:g.143747932C>T							p.V146V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	438	+	Melanoma(164;0.0783)		146			Helical; Name=4; (Potential).		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.438C>T	CCDS43668.1																																																																																				0.522	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			13	307	0	0	0	0.001855	0	13	307				
WDR60	55112	broad.mit.edu	37	7	158683963	158683963	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:158683963A>G	ENST00000407559.3	+	8	1156	c.998A>G	c.(997-999)cAc>cGc	p.H333R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	333					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H333R(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)		TAGCATGGCCACGAGGAAGGC	0.607																																							uc003woe.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(997-999)CAC>CGC		WD repeat domain 60							136.0	149.0	144.0					7																	158683963		2119	4234	6353	SO:0001583	missense	55112							g.chr7:158683963A>G		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.998A>G	7.37:g.158683963A>G	ENSP00000384290:p.His333Arg					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	p.H333R	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)	8	1156	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	333					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.998A>G	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	1.368	-0.586910	0.03827	.	.	ENSG00000126870	ENST00000407559	T	0.21543	2.0	2.7	-3.2	0.05156	.	1.139750	0.06787	N	0.786312	T	0.07999	0.0200	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	10	0.05959	T	0.93	-1.1938	8.543	0.33404	0.7404:0.0:0.2596:0.0	.	333	Q8WVS4	WDR60_HUMAN	R	333	ENSP00000384290:H333R	ENSP00000384290:H333R	H	+	2	0	WDR60	158376724	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.124000	0.03260	-0.893000	0.03930	-0.475000	0.04921	CAC		0.607	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		69	144	0	0	0	0.00361	0	69	144				
ARHGEF10	9639	broad.mit.edu	37	8	1857512	1857512	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:1857512G>T	ENST00000398564.1	+	18	2094	c.2094G>T	c.(2092-2094)tgG>tgT	p.W698C	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.W698C|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.W697C|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.W673C|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.W635C			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	698					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCTGAAGTGGAGCGTTCCAC	0.567																																							uc003wpr.2		NA																	0				large_intestine(1)	1						c.(2017-2019)TGG>TGT		Rho guanine nucleotide exchange factor 10							178.0	162.0	167.0					8																	1857512		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857512G>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2094G>T	8.37:g.1857512G>T	ENSP00000381571:p.Trp698Cys					ARHGEF10_uc003wpq.1_Missense_Mutation_p.W697C|ARHGEF10_uc003wps.2_Missense_Mutation_p.W635C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.W406C|ARHGEF10_uc010lre.2_Missense_Mutation_p.W353C	p.W673C	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	18	2197	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	698					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2019G>T		.	.	.	.	.	.	.	.	.	.	G	17.19	3.325983	0.60743	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.57195	-0.7853	10	0.87932	D	0	-22.1244	17.0702	0.86571	0.0:0.0:1.0:0.0	.	698;635;673	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	C	673;635;697;698;698;346	ENSP00000340297:W673C;ENSP00000427909:W635C;ENSP00000431012:W697C;ENSP00000381571:W698C;ENSP00000262112:W698C;ENSP00000427768:W346C	ENSP00000262112:W698C	W	+	3	0	ARHGEF10	1844919	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	7.979000	0.88103	2.525000	0.85131	0.644000	0.83932	TGG		0.567	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				36	182	1	0	1.90571e-15	0.004289	2.83168e-15	36	182				
CSMD1	64478	broad.mit.edu	37	8	2820078	2820078	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2820078G>T	ENST00000520002.1	-	62	10096	c.9541C>A	c.(9541-9543)Cag>Aag	p.Q3181K	CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3181K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3003K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3004K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3004K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3180K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3181	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.Q2909K(1)|p.Q3180K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATTTGCACTGGAAGAAGACT	0.502																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(9541-9543)CAG>AAG		CUB and Sushi multiple domains 1 precursor							63.0	62.0	62.0					8																	2820078		1905	4123	6028	SO:0001583	missense	64478					integral to membrane		g.chr8:2820078G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9541C>A	8.37:g.2820078G>T	ENSP00000430733:p.Gln3181Lys					CSMD1_uc011kwj.1_Missense_Mutation_p.Q2510K|CSMD1_uc010lrg.2_Missense_Mutation_p.Q1072K	p.Q3181K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9931	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3181			Extracellular (Potential).|Sushi 26.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9541C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.740|9.740	1.164574|1.164574	0.21538|0.21538	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.63580	.|-0.05;-0.05;-0.05;-0.05	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.165846	.|0.41605	.|D	.|0.000844	T|T	0.73497|0.73497	0.3594|0.3594	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.50156	.|0.932;0.232;0.657	.|D;B;B	.|0.67103	.|0.949;0.145;0.409	T|T	0.72779|0.72779	-0.4190|-0.4190	5|10	.|0.51188	.|T	.|0.08	.|.	19.6087|19.6087	0.95589|0.95589	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3181;3181;3003	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	Q|K	2597|3004;3181;3042;3180;3003	.|ENSP00000383047:Q3004K;ENSP00000430733:Q3181K;ENSP00000441462:Q3180K;ENSP00000446243:Q3003K	.|ENSP00000320445:Q3042K	P|Q	-|-	2|1	0|0	CSMD1|CSMD1	2807485|2807485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.300000|0.300000	0.27592|0.27592	5.190000|5.190000	0.65104|0.65104	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	57	1	0	2.68362e-12	0.001368	3.79146e-12	12	57				
CSMD1	64478	broad.mit.edu	37	8	2857502	2857502	+	Silent	SNP	A	A	G	rs571962320		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2857502A>G	ENST00000520002.1	-	54	8739	c.8184T>C	c.(8182-8184)tcT>tcC	p.S2728S	CSMD1_ENST00000602557.1_Silent_p.S2728S|CSMD1_ENST00000542608.1_Silent_p.S2669S|CSMD1_ENST00000400186.3_Silent_p.S2670S|CSMD1_ENST00000602723.1_Silent_p.S2670S|CSMD1_ENST00000537824.1_Silent_p.S2727S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2728	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2456S(1)|p.S2727S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTTGTCCAGACCACTTGT	0.473																																							uc011kwk.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(8182-8184)TCT>TCC		CUB and Sushi multiple domains 1 precursor							174.0	172.0	173.0					8																	2857502		1983	4157	6140	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2857502A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8184T>C	8.37:g.2857502A>G						CSMD1_uc011kwj.1_Silent_p.S2057S|CSMD1_uc010lrg.2_Silent_p.S738S	p.S2728S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8574	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2728			Extracellular (Potential).|Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8184T>C		.	.	.	.	.	.	.	.	.	.	A	6.152	0.396224	0.11638	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.07	-1.72	0.08107	.	.	.	.	.	T	0.51143	0.1657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40942	-0.9536	4	.	.	.	.	6.8783	0.24158	0.5349:0.2921:0.1731:0.0	.	.	.	.	R	2145	.	.	W	-	1	0	CSMD1	2844909	0.001000	0.12720	0.980000	0.43619	0.300000	0.27592	-1.381000	0.02549	-0.532000	0.06332	0.533000	0.62120	TGG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	277	0	0	0	0.006214	0	8	277				
CSMD1	64478	broad.mit.edu	37	8	2965290	2965290	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2965290G>T	ENST00000520002.1	-	46	7343	c.6788C>A	c.(6787-6789)cCa>cAa	p.P2263Q	CSMD1_ENST00000602557.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2262Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2263Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2262Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2263	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P1991Q(1)|p.P2262Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAACCGCTGGGGGAGGTTG	0.333																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6787-6789)CCA>CAA		CUB and Sushi multiple domains 1 precursor							140.0	132.0	134.0					8																	2965290		1840	4081	5921	SO:0001583	missense	64478					integral to membrane		g.chr8:2965290G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6788C>A	8.37:g.2965290G>T	ENSP00000430733:p.Pro2263Gln					CSMD1_uc011kwj.1_Missense_Mutation_p.P1655Q|CSMD1_uc010lrg.2_Missense_Mutation_p.P331Q	p.P2263Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	45	7178	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2263			Extracellular (Potential).|Sushi 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6788C>A		.	.	.	.	.	.	.	.	.	.	G	16.32	3.090577	0.55968	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.24	5.24	0.73138	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83533	0.5275	M	0.84433	2.695	0.80722	D	1	P;P;D	0.56746	0.896;0.869;0.977	P;P;D	0.65684	0.697;0.866;0.937	D	0.86221	0.1631	10	0.72032	D	0.01	.	18.8255	0.92117	0.0:0.0:1.0:0.0	.	2263;2263;2262	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Q	2263;2263;2124;2262;2262	ENSP00000383047:P2263Q;ENSP00000430733:P2263Q;ENSP00000441462:P2262Q;ENSP00000446243:P2262Q	ENSP00000320445:P2124Q	P	-	2	0	CSMD1	2952697	1.000000	0.71417	0.219000	0.23793	0.021000	0.10359	6.946000	0.75953	2.436000	0.82500	0.551000	0.68910	CCA		0.333	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		13	165	1	0	9.31168e-06	0.001855	1.09522e-05	13	165				
CSMD1	64478	broad.mit.edu	37	8	3008972	3008972	+	Missense_Mutation	SNP	G	G	T	rs548403251		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3008972G>T	ENST00000520002.1	-	41	6536	c.5981C>A	c.(5980-5982)tCt>tAt	p.S1994Y	CSMD1_ENST00000602557.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1994Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1993Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1994	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.S1722Y(1)|p.S1993Y(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGGGGTAAGAACCTGGGAA	0.488																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(5980-5982)TCT>TAT		CUB and Sushi multiple domains 1 precursor							90.0	97.0	94.0					8																	3008972		2071	4236	6307	SO:0001583	missense	64478					integral to membrane		g.chr8:3008972G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5981C>A	8.37:g.3008972G>T	ENSP00000430733:p.Ser1994Tyr					CSMD1_uc011kwj.1_Missense_Mutation_p.S1386Y|CSMD1_uc003wqe.2_Missense_Mutation_p.S1150Y|CSMD1_uc010lrg.2_Missense_Mutation_p.S62Y	p.S1994Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	40	6371	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1994			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5981C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.75|10.75	1.438826|1.438826	0.25900|0.25900	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.29655	.|2.15;2.15;2.15;2.15;1.56	4.79|4.79	2.84|2.84	0.33178|0.33178	.|CUB (5);	.|0.709884	.|0.12274	.|N	.|0.483527	T|T	0.29355|0.29355	0.0731|0.0731	N|N	0.16201|0.16201	0.385|0.385	0.09310|0.09310	N|N	1|1	.|D;P;P;P	.|0.62365	.|0.991;0.878;0.855;0.738	.|P;P;P;P	.|0.57620	.|0.824;0.612;0.5;0.468	T|T	0.08066|0.08066	-1.0740|-1.0740	5|10	.|0.66056	.|D	.|0.02	.|.	7.1712|7.1712	0.25719|0.25719	0.0:0.1351:0.4803:0.3846|0.0:0.1351:0.4803:0.3846	.|.	.|1994;1994;1993;1994	.|E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.|.;CSMD1_HUMAN;.;.	L|Y	1473|1994;1994;1855;1993;1993;1993	.|ENSP00000383047:S1994Y;ENSP00000430733:S1994Y;ENSP00000441462:S1993Y;ENSP00000446243:S1993Y;ENSP00000441675:S1993Y	.|ENSP00000320445:S1855Y	F|S	-|-	3|2	2|0	CSMD1|CSMD1	2996379|2996379	0.999000|0.999000	0.42202|0.42202	0.001000|0.001000	0.08648|0.08648	0.135000|0.135000	0.20990|0.20990	5.370000|5.370000	0.66144|0.66144	0.977000|0.977000	0.38444|0.38444	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	40	1	0	2.17888e-05	0.006214	2.53445e-05	9	40				
CSMD1	64478	broad.mit.edu	37	8	3205575	3205575	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3205575G>T	ENST00000520002.1	-	23	3971	c.3416C>A	c.(3415-3417)gCc>gAc	p.A1139D	CSMD1_ENST00000602557.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1139D|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1138D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1139	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A867V(1)|p.A867D(1)|p.A1138D(1)|p.A1138V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCTTGCCGGCTTCTGTTTC	0.383																																							uc011kwk.1		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	breast(20)|large_intestine(5)	25						c.(3415-3417)GCC>GAC		CUB and Sushi multiple domains 1 precursor							67.0	60.0	62.0					8																	3205575		1813	4067	5880	SO:0001583	missense	64478					integral to membrane		g.chr8:3205575G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3416C>A	8.37:g.3205575G>T	ENSP00000430733:p.Ala1139Asp					CSMD1_uc011kwj.1_Missense_Mutation_p.A531D|CSMD1_uc003wqe.2_Missense_Mutation_p.A295D	p.A1139D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3806	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1139			Extracellular (Potential).|CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3416C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.466159|2.466159	0.43839|0.43839	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25|.	5.64|5.64	5.64|5.64	0.86602|0.86602	CUB (5);|.	0.153691|.	0.45361|.	D|.	0.000378|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.45352|0.45352	1.415|1.415	0.30709|0.30709	N|N	0.749445|0.749445	D;P;P|.	0.89917|.	1.0;0.87;0.848|.	D;P;P|.	0.91635|.	0.999;0.826;0.735|.	T|T	0.58115|0.58115	-0.7693|-0.7693	10|5	0.39692|.	T|.	0.17|.	.|.	19.7076|19.7076	0.96081|0.96081	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1139;1139;1139|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	D|R	1139;1139;1001;1138;1138;1138|618	ENSP00000383047:A1139D;ENSP00000430733:A1139D;ENSP00000441462:A1138D;ENSP00000446243:A1138D;ENSP00000441675:A1138D|.	ENSP00000320445:A1001D|.	A|S	-|-	2|3	0|2	CSMD1|CSMD1	3192982|3192982	0.994000|0.994000	0.37717|0.37717	0.308000|0.308000	0.25141|0.25141	0.083000|0.083000	0.17756|0.17756	5.045000|5.045000	0.64220|0.64220	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	22	1	0	0.004672	0.004672	0.00496531	3	22				
CSMD1	64478	broad.mit.edu	37	8	3253859	3253859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3253859C>A	ENST00000520002.1	-	18	3008	c.2453G>T	c.(2452-2454)gGg>gTg	p.G818V	CSMD1_ENST00000602557.1_Missense_Mutation_p.G818V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G817V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G818V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G818V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G817V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G817V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	818	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G817V(1)|p.G546V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGGCTGGCCCATCTCTGAC	0.522																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2452-2454)GGG>GTG		CUB and Sushi multiple domains 1 precursor							49.0	64.0	59.0					8																	3253859		2175	4276	6451	SO:0001583	missense	64478					integral to membrane		g.chr8:3253859C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2453G>T	8.37:g.3253859C>A	ENSP00000430733:p.Gly818Val					CSMD1_uc011kwj.1_Missense_Mutation_p.G210V|CSMD1_uc003wqe.2_5'UTR	p.G818V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	17	2843	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	818			Extracellular (Potential).|CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2453G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.255643|3.255643	0.59321|0.59321	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69;1.69|.	5.3|5.3	5.3|5.3	0.74995|0.74995	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88209|0.88209	0.6375|0.6375	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.91945|0.91945	0.5566|0.5566	10|5	0.46703|.	T|.	0.11|.	.|.	18.9736|18.9736	0.92725|0.92725	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	V|C	818;818;680;817;817;817|297	ENSP00000383047:G818V;ENSP00000430733:G818V;ENSP00000441462:G817V;ENSP00000446243:G817V;ENSP00000441675:G817V|.	ENSP00000320445:G680V|.	G|W	-|-	2|3	0|0	CSMD1|CSMD1	3241266|3241266	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.014000|0.014000	0.08584|0.08584	7.632000|7.632000	0.83247|0.83247	2.446000|2.446000	0.82766|0.82766	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	18	1	0	0.00024832	0.009096	0.000278259	4	18				
CSMD1	64478	broad.mit.edu	37	8	3265427	3265427	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3265427A>C	ENST00000520002.1	-	15	2623	c.2068T>G	c.(2068-2070)Tac>Gac	p.Y690D	CSMD1_ENST00000602557.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y690D|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y689D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	690	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Y689D(1)|p.Y418D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACTGGTGTAAGTGATGTTG	0.443																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2068-2070)TAC>GAC		CUB and Sushi multiple domains 1 precursor							63.0	59.0	60.0					8																	3265427		1977	4162	6139	SO:0001583	missense	64478					integral to membrane		g.chr8:3265427A>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2068T>G	8.37:g.3265427A>C	ENSP00000430733:p.Tyr690Asp					CSMD1_uc011kwj.1_Missense_Mutation_p.Y82D	p.Y690D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2458	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	690			Extracellular (Potential).|CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2068T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.049228|4.049228	0.75846|0.75846	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39;0.39	5.23|5.23	5.23|5.23	0.72850|0.72850	.|CUB (5);	.|0.081822	.|0.50627	.|D	.|0.000104	.|T	.|0.81992	.|0.4940	H|H	0.97491|0.97491	4.015|4.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D	.|0.76494	.|0.999;0.969	.|D;D	.|0.85130	.|0.997;0.925	.|D	.|0.88057	.|0.2791	.|10	.|0.56958	.|D	.|0.05	.|.	15.1177|15.1177	0.72416|0.72416	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|690;690	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	X|D	169|690;690;552;689;689;689	.|ENSP00000383047:Y690D;ENSP00000430733:Y690D;ENSP00000441462:Y689D;ENSP00000446243:Y689D;ENSP00000441675:Y689D	.|ENSP00000320445:Y552D	L|Y	-|-	2|1	0|0	CSMD1|CSMD1	3252834|3252834	1.000000|1.000000	0.71417|0.71417	0.751000|0.751000	0.31187|0.31187	0.961000|0.961000	0.63080|0.63080	9.022000|9.022000	0.93678|0.93678	1.973000|1.973000	0.57446|0.57446	0.383000|0.383000	0.25322|0.25322	TTA|TAC		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	20	0	0	0	0.004672	0	3	20				
SGCZ	137868	broad.mit.edu	37	8	14181709	14181710	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:14181709_14181710CC>AA	ENST00000382080.1	-	3	953_954	c.238_239GG>TT	c.(238-240)GGt>TTt	p.G80F	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	67					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.G80F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTTCCCATACCATCCTACAAG	0.361																																							uc003wwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(238-240)GGT>TTT		sarcoglycan zeta																																				SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14181709_14181710CC>AA	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.238_239delinsAA	8.37:g.14181709_14181710delinsAA	ENSP00000371512:p.Gly80Phe					SGCZ_uc010lss.2_Intron	p.G80F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	3	898_899	-			67			Extracellular (Potential).		Q6REU0	Missense_Mutation	DNP	ENST00000382080.1	37	c.238_239GG>TT	CCDS5992.2																																																																																				0.361	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		6	84	0	0	0	0.004672	0	6	84				
SORBS3	10174	broad.mit.edu	37	8	22414373	22414373	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:22414373G>A	ENST00000240123.7	+	4	749	c.366G>A	c.(364-366)gaG>gaA	p.E122E	SORBS3_ENST00000523402.1_Silent_p.E122E	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	122	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.E122E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCAAGTACGAGGGAATCGGGC	0.652																																							uc003xbv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)GAG>GAA		sorbin and SH3 domain containing 3 isoform 1							77.0	72.0	74.0					8																	22414373		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22414373G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.366G>A	8.37:g.22414373G>A						SORBS3_uc011kzk.1_RNA	p.E122E	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	706	+		Prostate(55;0.0421)|Breast(100;0.102)	122			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.366G>A	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406839	0.25378	.	.	ENSG00000120896	ENST00000520563;ENST00000524057	.	.	.	4.88	0.922	0.19408	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34725	-0.9817	4	.	.	.	-19.3626	4.5142	0.11926	0.3411:0.0:0.5159:0.143	.	.	.	.	R	77;59	.	.	G	+	1	0	SORBS3	22470318	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.346000	0.19997	0.109000	0.17891	0.650000	0.86243	GGG		0.652	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		6	72	0	0	0	0.006214	0	6	72				
SCARA3	51435	broad.mit.edu	37	8	27517030	27517030	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:27517030T>C	ENST00000301904.3	+	5	1363	c.1343T>C	c.(1342-1344)aTc>aCc	p.I448T	SCARA3_ENST00000337221.4_Missense_Mutation_p.I448T	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	448					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.I448T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATGGAGAAATCCTTCGCAAT	0.557																																							uc003xga.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1342-1344)ATC>ACC		scavenger receptor class A, member 3 isoform 1							39.0	33.0	35.0					8																	27517030		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27517030T>C	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1343T>C	8.37:g.27517030T>C	ENSP00000301904:p.Ile448Thr					SCARA3_uc003xgb.1_Missense_Mutation_p.I448T	p.I448T	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	1484	+		Ovarian(32;2.61e-05)	448			Extracellular (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.1343T>C	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863161	0.32884	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.91295	2.39;-2.82	5.8	4.66	0.58398	.	0.337021	0.34725	N	0.003721	T	0.79690	0.4489	N	0.12182	0.205	0.38485	D	0.947836	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.001	T	0.74968	-0.3483	10	0.25106	T	0.35	-17.1758	9.3388	0.38067	0.0:0.083:0.0:0.917	.	448;448	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	T	448	ENSP00000337985:I448T;ENSP00000301904:I448T	ENSP00000301904:I448T	I	+	2	0	SCARA3	27572949	1.000000	0.71417	0.983000	0.44433	0.851000	0.48451	3.753000	0.55180	2.226000	0.72624	0.459000	0.35465	ATC		0.557	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		8	18	0	0	0	0.006214	0	8	18				
NUGGC	389643	broad.mit.edu	37	8	27898648	27898648	+	Missense_Mutation	SNP	C	C	T	rs373371560		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:27898648C>T	ENST00000413272.2	-	13	1673	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	NUGGC_ENST00000341513.6_Missense_Mutation_p.A511T	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	511					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A511T(2)									TCCATGCAGGCGAAGCACTGT	0.567																																							uc003xgm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1531-1533)GCC>ACC		speckled-like pattern in the germinal center		C	THR/ALA	0,4180		0,0,2090	46.0	49.0	48.0		1531	2.8	0.8	8		48	1,8425		0,1,4212	no	missense	C8orf80	NM_001010906.1	58	0,1,6302	TT,TC,CC		0.0119,0.0,0.0079	benign	511/797	27898648	1,12605	2090	4213	6303	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27898648C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1531G>A	8.37:g.27898648C>T	ENSP00000408697:p.Ala511Thr						p.A511T	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	13	1674	-		Ovarian(32;0.0218)	511					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1531G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313616	0.10789	0.0	1.19E-4	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.42131	0.98;0.98	5.65	2.78	0.32641	.	0.734765	0.13207	N	0.405455	T	0.24586	0.0596	N	0.24115	0.695	0.32186	N	0.579771	B	0.14438	0.01	B	0.08055	0.003	T	0.28396	-1.0045	10	0.15952	T	0.53	-7.8089	6.7652	0.23562	0.3111:0.6065:0.0:0.0824	.	511	Q68CJ6	SLIP_HUMAN	T	511	ENSP00000408697:A511T;ENSP00000345031:A511T	ENSP00000345031:A511T	A	-	1	0	C8orf80	27954567	0.806000	0.28996	0.849000	0.33467	0.006000	0.05464	0.052000	0.14163	0.727000	0.32360	-0.142000	0.14014	GCC		0.567	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		3	7	0	0	0	0.004672	0	3	7				
TEX15	56154	broad.mit.edu	37	8	30695247	30695247	+	Silent	SNP	T	T	C	rs574271672		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:30695247T>C	ENST00000256246.2	-	3	7478	c.7404A>G	c.(7402-7404)acA>acG	p.T2468T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2468					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.T2468T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGGTGAAAATGTGCCATGTA	0.383																																							uc003xil.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7402-7404)ACA>ACG		testis expressed 15							123.0	126.0	125.0					8																	30695247		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30695247T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7404A>G	8.37:g.30695247T>C							p.T2468T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7404	-			2468						Silent	SNP	ENST00000256246.2	37	c.7404A>G	CCDS6080.1																																																																																				0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			16	347	0	0	0	0.003163	0	16	347				
UNC5D	137970	broad.mit.edu	37	8	35583678	35583678	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:35583678C>T	ENST00000404895.2	+	10	1640	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	UNC5D_ENST00000453357.2_Silent_p.L433L|UNC5D_ENST00000420357.1_Silent_p.L371L|UNC5D_ENST00000287272.2_Silent_p.L369L|UNC5D_ENST00000449677.1_Silent_p.L14L|UNC5D_ENST00000416672.1_Silent_p.L443L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	438					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L433L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGTAACTCCCTGCTCCTGAA	0.507																																							uc003xjr.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1312-1314)CTG>TTG		unc-5 homolog D precursor							62.0	65.0	64.0					8																	35583678		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583678C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1312C>T	8.37:g.35583678C>T						UNC5D_uc003xjs.1_Silent_p.L433L|UNC5D_uc003xju.1_Silent_p.L14L|UNC5D_uc003xjt.1_Silent_p.L196L	p.L438L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1640	+			438			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1312C>T	CCDS6093.2																																																																																				0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			21	99	0	0	0	0.00278	0	21	99				
PLAT	5327	broad.mit.edu	37	8	42044933	42044933	+	Silent	SNP	C	C	T	rs115361478	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42044933C>T	ENST00000220809.4	-	6	778	c.522G>A	c.(520-522)ggG>ggA	p.G174G	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000270189.6_Silent_p.G174G|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.G128G|PLAT_ENST00000429089.2_Silent_p.G174G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	174	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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.G174G(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)	AGTTGTGGTTCCCCAGGCCCA	0.627																																							uc003xos.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(520-522)GGG>GGA		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						45.0	45.0	45.0					8																	42044933		2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42044933C>T		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.522G>A	8.37:g.42044933C>T						PLAT_uc010lxf.1_Silent_p.G91G|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.G128G|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	p.G174G	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)		6	731	-	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)	174			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.522G>A	CCDS6126.1																																																																																				0.627	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		5	33	0	0	0	0.00308	0	5	33				
PLAT	5327	broad.mit.edu	37	8	42046539	42046539	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42046539A>G	ENST00000220809.4	-	4	422	c.166T>C	c.(166-168)Tgg>Cgg	p.W56R	PLAT_ENST00000519510.1_Missense_Mutation_p.W56R|PLAT_ENST00000429710.2_Missense_Mutation_p.W56R|PLAT_ENST00000270189.6_Missense_Mutation_p.W56R|PLAT_ENST00000524009.1_Missense_Mutation_p.W56R|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.W56R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	56	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				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.W56R(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)	GGGCGCAGCCATGACTGATGT	0.483																																							uc003xos.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(166-168)TGG>CGG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						206.0	200.0	202.0					8																	42046539		2203	4300	6503	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.chr8:42046539A>G		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.166T>C	8.37:g.42046539A>G	ENSP00000220809:p.Trp56Arg					PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.W56R|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.W56R|PLAT_uc011lcn.1_Missense_Mutation_p.W56R	p.W56R	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)		4	375	-	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)	56			Fibronectin type-I.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.166T>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984848	0.53934	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.11	5.11	0.69529	Fibronectin, type I (4);Complement control module (1);	0.120878	0.64402	D	0.000011	D	0.86447	0.5935	M	0.82517	2.595	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;0.999;0.999;0.883	D;D;D;P	0.83275	0.995;0.996;0.985;0.886	D	0.88520	0.3095	10	0.87932	D	0	.	13.5089	0.61499	1.0:0.0:0.0:0.0	.	56;56;56;56	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	R	56	ENSP00000270189:W56R;ENSP00000392045:W56R;ENSP00000220809:W56R;ENSP00000428886:W56R;ENSP00000407861:W56R;ENSP00000429401:W56R;ENSP00000428797:W56R;ENSP00000429801:W56R	ENSP00000220809:W56R	W	-	1	0	PLAT	42165696	1.000000	0.71417	0.947000	0.38551	0.117000	0.20001	6.417000	0.73337	1.940000	0.56252	0.477000	0.44152	TGG		0.483	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		7	309	0	0	0	0.006214	0	7	309				
RNF170	81790	broad.mit.edu	37	8	42725241	42725241	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42725241G>A	ENST00000534961.1	-	4	704	c.228C>T	c.(226-228)gcC>gcT	p.A76A	RNF170_ENST00000319073.4_Missense_Mutation_p.P5L|RNF170_ENST00000527424.1_Silent_p.A76A|RNF170_ENST00000319104.3_Silent_p.A76A|RNF170_ENST00000526349.1_5'UTR	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	76					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A76A(1)		lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCTGTCGAGTGGCAGCAGGTG	0.473																																							uc003xpo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)GCC>GCT		ring finger protein 170 isoform a							112.0	95.0	101.0					8																	42725241		2203	4300	6503	SO:0001819	synonymous_variant	81790					integral to membrane	zinc ion binding	g.chr8:42725241G>A	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.228C>T	8.37:g.42725241G>A						RNF170_uc011lcx.1_Silent_p.A76A|RNF170_uc010lxp.2_5'UTR|RNF170_uc003xpm.2_Silent_p.A76A|RNF170_uc003xpp.2_Missense_Mutation_p.P5L|RNF170_uc003xpn.2_Missense_Mutation_p.P5L|RNF170_uc003xpq.3_Silent_p.A76A	p.A76A	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		4	705	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	76					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Silent	SNP	ENST00000534961.1	37	c.228C>T	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186767	0.21870	.	.	ENSG00000120925	ENST00000319073	T	0.79940	-1.32	5.63	-4.95	0.03048	.	.	.	.	.	T	0.49081	0.1536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49908	-0.8889	8	0.02654	T	1	-0.2731	3.9045	0.09176	0.4068:0.1082:0.3802:0.1048	.	5	Q96K19-4	.	L	5	ENSP00000325969:P5L	ENSP00000325969:P5L	P	-	2	0	RNF170	42844398	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.041000	0.12084	-0.781000	0.04548	-1.934000	0.00508	CCA		0.473	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		6	43	0	0	0	0.001984	0	6	43				
SNTG1	54212	broad.mit.edu	37	8	51621445	51621445	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:51621445G>T	ENST00000522124.1	+	17	1852		c.e17-1		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.?(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTCTACCTAGTGCAAGACCT	0.343																																							uc010lxy.1		NA																	4	Unknown(4)		lung(4)	ovary(5)	5						c.e18-1		syntrophin, gamma 1							174.0	145.0	154.0					8																	51621445		2203	4300	6503	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51621445G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1192-1G>T	8.37:g.51621445G>T						SNTG1_uc003xqs.1_Splice_Site_p.C398_splice|SNTG1_uc010lxz.1_Splice_Site_p.C398_splice|SNTG1_uc011ldl.1_Splice_Site	p.C398_splice	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			18	1563	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)						Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	c.1192_splice	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177157	0.78564	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5616	0.91102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51783998	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	8.787000	0.91830	2.613000	0.88420	0.650000	0.86243	.		0.343	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Intron	39	87	1	0	3.33393e-15	0.004878	4.93069e-15	39	87				
PXDNL	137902	broad.mit.edu	37	8	52321066	52321066	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:52321066C>A	ENST00000356297.4	-	17	3218	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1040L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1040					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.V239L(1)|p.V1040L(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)				CCTGCATTCACGTTGGGGTTG	0.522																																							uc003xqu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3118-3120)GTG>TTG		peroxidasin homolog-like precursor							36.0	40.0	39.0					8																	52321066		2032	4198	6230	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321066C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3118G>T	8.37:g.52321066C>A	ENSP00000348645:p.Val1040Leu					PXDNL_uc003xqt.3_RNA	p.V1040L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3219	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1040					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3118G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	1.559	-0.537256	0.04082	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.71817	-0.6;-0.6	3.82	3.82	0.43975	.	0.000000	0.47093	D	0.000255	T	0.73745	0.3626	M	0.70108	2.13	0.32883	D	0.510819	P	0.36874	0.572	P	0.44647	0.456	T	0.79952	-0.1586	10	0.34782	T	0.22	.	13.1684	0.59583	0.0:1.0:0.0:0.0	.	1040	A1KZ92	PXDNL_HUMAN	L	1040	ENSP00000348645:V1040L;ENSP00000444865:V1040L	ENSP00000348645:V1040L	V	-	1	0	PXDNL	52483619	0.006000	0.16342	0.004000	0.12327	0.001000	0.01503	0.521000	0.22893	1.653000	0.50694	0.655000	0.94253	GTG		0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	42	1	0	0.000602214	0.000602	0.000665384	4	42				
ST18	9705	broad.mit.edu	37	8	53084677	53084677	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:53084677G>C	ENST00000276480.7	-	10	1427	c.744C>G	c.(742-744)aaC>aaG	p.N248K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	248					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.N248K(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)				AATCACACCTGTTCTCACAAG	0.443																																							uc003xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(742-744)AAC>AAG		suppression of tumorigenicity 18							78.0	84.0	82.0					8																	53084677		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084677G>C	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.744C>G	8.37:g.53084677G>C	ENSP00000276480:p.Asn248Lys					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.N213K|ST18_uc011lds.1_Missense_Mutation_p.N153K|ST18_uc003xra.2_Missense_Mutation_p.N248K|ST18_uc003xrb.2_Missense_Mutation_p.N248K	p.N248K	NM_014682	NP_055497	O60284	ST18_HUMAN			5	900	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	248					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.744C>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	6.428	0.447159	0.12223	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.40476	1.03;1.03	5.91	1.97	0.26223	.	0.569281	0.20485	N	0.091407	T	0.18593	0.0446	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22312	-1.0220	10	0.05525	T	0.97	-18.4046	2.146	0.03787	0.2196:0.0963:0.4605:0.2236	.	248	O60284	ST18_HUMAN	K	248	ENSP00000276480:N248K;ENSP00000428521:N248K	ENSP00000276480:N248K	N	-	3	2	ST18	53247230	0.003000	0.15002	0.568000	0.28447	0.994000	0.84299	0.226000	0.17776	0.851000	0.35264	0.655000	0.94253	AAC		0.443	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			29	144	0	0	0	0.009535	0	29	144				
SGK3	23678	broad.mit.edu	37	8	67679693	67679693	+	Intron	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:67679693A>C	ENST00000521198.2	+	2	416				C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44-SGK3_ENST00000520044.1_Intron	NM_001033578.2	NP_001028750.1	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3						ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAGAATGCTTAAAGGAGACTG	0.418																																							uc011leu.1		NA																	0					0						c.(547-549)TTA>TGA		RecName: Full=Securin-3; AltName: Full=Pituitary tumor transforming gene 3 protein;          Short=hPTTG3; AltName: Full=rcPTTG1;																																				SO:0001627	intron_variant	26255							g.chr8:67679693A>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000521198.2:c.-121-26158A>C	8.37:g.67679693A>C						SGK3_uc003xwp.2_Intron|SGK3_uc003xwr.2_Intron	p.L183*	NR_002734						1	548	-								A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Nonsense_Mutation	SNP	ENST00000521198.2	37	c.548T>G	CCDS6195.1																																																																																				0.418	SGK3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			60	146	0	0	0	0.00361	0	60	146				
ZFHX4	79776	broad.mit.edu	37	8	77765002	77765002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77765002G>T	ENST00000521891.2	+	10	6293	c.5845G>T	c.(5845-5847)Gga>Tga	p.G1949*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.G1904*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.G1923*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.G1904*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1904	Pro-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.G1949*(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)			ACTAGAATGTGGAACATGTGG	0.378										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5710-5712)GGA>TGA		zinc finger homeodomain 4							72.0	68.0	69.0					8																	77765002		1943	4151	6094	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765002G>T		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.5845G>T	8.37:g.77765002G>T	ENSP00000430497:p.Gly1949*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.G1949*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.G1904*	p.G1904*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6097	+			1904			C2H2-type 14.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.5710G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	47	13.288762	0.99732	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.2	4.2	0.49525	.	0.000000	0.41500	U	0.000875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	17.142	0.86756	0.0:0.0:1.0:0.0	.	.	.	.	X	1949;1949;1904;1904;1923	.	ENSP00000050961:G1904X	G	+	1	0	ZFHX4	77927557	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	6.568000	0.73987	2.365000	0.80145	0.539000	0.68188	GGA		0.378	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	85	1	0	2.21704e-12	0.00278	3.14633e-12	25	85				
ZFHX4	79776	broad.mit.edu	37	8	77768314	77768314	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77768314A>T	ENST00000521891.2	+	10	9605	c.9157A>T	c.(9157-9159)Acc>Tcc	p.T3053S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3008S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3027S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3008S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3008	Pro-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.T3037S(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)			CTTGGCTCCGACCACGGTTCG	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.(9022-9024)ACC>TCC		zinc finger homeodomain 4							102.0	102.0	102.0					8																	77768314		2008	4175	6183	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768314A>T		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.9157A>T	8.37:g.77768314A>T	ENSP00000430497:p.Thr3053Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.T3053S|ZFHX4_uc003yaw.1_Missense_Mutation_p.T3008S	p.T3008S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9409	+			3008					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9022A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605918	0.28623	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.78;0.77	5.33	5.33	0.75918	.	0.000000	0.45867	U	0.000338	T	0.63426	0.2510	M	0.64997	1.995	0.54753	D	0.999985	D;D;D	0.56521	0.959;0.976;0.976	P;P;D	0.65684	0.766;0.882;0.937	T	0.60010	-0.7346	10	0.28530	T	0.3	.	15.4656	0.75397	1.0:0.0:0.0:0.0	.	3008;3008;3053	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	3053;3037;3008;3008;3027	ENSP00000430497:T3053S;ENSP00000399605:T3008S;ENSP00000050961:T3008S;ENSP00000430848:T3027S	ENSP00000050961:T3008S	T	+	1	0	ZFHX4	77930869	1.000000	0.71417	0.697000	0.30258	0.215000	0.24574	7.136000	0.77285	2.241000	0.73720	0.533000	0.62120	ACC		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		53	86	0	0	0	0.00361	0	53	86				
ZFHX4	79776	broad.mit.edu	37	8	77768330	77768330	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77768330T>A	ENST00000521891.2	+	10	9621	c.9173T>A	c.(9172-9174)cTg>cAg	p.L3058Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3013Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3032Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3013Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3013	Pro-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.L3042Q(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)			GTTCGGCAGCTGATGGCACAG	0.522										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9037-9039)CTG>CAG		zinc finger homeodomain 4							106.0	107.0	106.0					8																	77768330		2024	4188	6212	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768330T>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.9173T>A	8.37:g.77768330T>A	ENSP00000430497:p.Leu3058Gln	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.L3058Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.L3013Q	p.L3013Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9425	+			3013					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9038T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072979	0.55646	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57273	0.41;0.48;0.43;0.45	5.33	5.33	0.75918	.	0.000000	0.34986	U	0.003539	T	0.72317	0.3445	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.91635	0.997;0.999;0.999	T	0.75491	-0.3299	10	0.62326	D	0.03	.	15.4656	0.75397	0.0:0.0:0.0:1.0	.	3013;3013;3058	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	3058;3042;3013;3013;3032	ENSP00000430497:L3058Q;ENSP00000399605:L3013Q;ENSP00000050961:L3013Q;ENSP00000430848:L3032Q	ENSP00000050961:L3013Q	L	+	2	0	ZFHX4	77930885	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.868000	0.87116	2.241000	0.73720	0.533000	0.62120	CTG		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	140	0	0	0	0.001168	0	5	140				
CA1	759	broad.mit.edu	37	8	86240888	86240888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:86240888G>T	ENST00000523953.1	-	9	1733	c.687C>A	c.(685-687)agC>agA	p.S229R	CA1_ENST00000523022.1_Missense_Mutation_p.S229R|CA1_ENST00000542576.1_Missense_Mutation_p.S229R|CA1_ENST00000256119.5_Missense_Mutation_p.S229R|CA1_ENST00000522389.1_Missense_Mutation_p.S95R|CA1_ENST00000432364.2_Missense_Mutation_p.S229R|CA1_ENST00000431316.1_Missense_Mutation_p.S229R			P00915	CAH1_HUMAN	carbonic anhydrase I	229					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S229R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTGATAGAAGGCTGCGGAATT	0.388																																							uc003ydh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(685-687)AGC>AGA		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						112.0	106.0	108.0					8																	86240888		2203	4300	6503	SO:0001583	missense	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86240888G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.687C>A	8.37:g.86240888G>T	ENSP00000430656:p.Ser229Arg					CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.S229R|CA1_uc003ydi.2_Missense_Mutation_p.S229R	p.S229R	NM_001738	NP_001729	P00915	CAH1_HUMAN			9	887	-		all_lung(136;4.89e-06)	229						Missense_Mutation	SNP	ENST00000523953.1	37	c.687C>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197803	0.09652	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000522389;ENST00000524324;ENST00000517618;ENST00000519991	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.44	-0.727	0.11166	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.293342	0.41194	D	0.000939	T	0.48502	0.1503	L	0.36672	1.1	0.30517	N	0.768867	B	0.17667	0.023	B	0.17098	0.017	T	0.32877	-0.9890	10	0.45353	T	0.12	-8.4843	5.0663	0.14583	0.4612:0.1647:0.3741:0.0	.	229	P00915	CAH1_HUMAN	R	229;229;229;229;229;229;95;163;229;116	ENSP00000430656:S229R;ENSP00000256119:S229R;ENSP00000392338:S229R;ENSP00000443517:S229R;ENSP00000401551:S229R;ENSP00000429798:S229R;ENSP00000427773:S95R;ENSP00000428923:S163R;ENSP00000430861:S229R;ENSP00000430543:S116R	ENSP00000256119:S229R	S	-	3	2	CA1	86428140	0.037000	0.19845	0.457000	0.27056	0.044000	0.14063	-0.521000	0.06245	-0.298000	0.08921	-1.068000	0.02270	AGC		0.388	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		18	113	1	0	5.3912e-06	0.006122	6.39657e-06	18	113				
REXO1L1P	254958	broad.mit.edu	37	8	86567347	86567347	+	IGR	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:86567347G>T	ENST00000379010.2	-	0	7032					NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GTCAGCTCCAGGCCATGCGTG	0.567																																							uc003ydl.1		NA																	0					NA						c.(472-474)CTG>ATG		exonuclease GOR																																				SO:0001628	intergenic_variant	0							g.chr8:86567347G>T																													8.37:g.86567347G>T							p.L158M	NM_172239	NP_758439					1	559	-									Missense_Mutation	SNP	ENST00000379010.2	37	c.472C>A																																																																																					0.567	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			8	118	1	0	0.000274275	0.004482	0.000305179	8	118				
MMP16	4325	broad.mit.edu	37	8	89053712	89053712	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:89053712G>A	ENST00000286614.6	-	10	2082	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	601					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R601C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCATAGAGCGTTTACAGTAC	0.438																																							uc003yeb.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1801-1803)CGC>TGC		matrix metalloproteinase 16 isoform 1							127.0	127.0	127.0					8																	89053712		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053712G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1801C>T	8.37:g.89053712G>A	ENSP00000286614:p.Arg601Cys						p.R601C	NM_005941	NP_005932	P51512	MMP16_HUMAN			10	2083	-			601			Cytoplasmic (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1801C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152353	0.78001	.	.	ENSG00000156103	ENST00000286614	T	0.53423	0.62	5.62	5.62	0.85841	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73477	-0.3970	10	0.87932	D	0	.	19.6577	0.95849	0.0:0.0:1.0:0.0	.	601	P51512	MMP16_HUMAN	C	601	ENSP00000286614:R601C	ENSP00000286614:R601C	R	-	1	0	MMP16	89122828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.498000	0.81546	2.638000	0.89438	0.591000	0.81541	CGC		0.438	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		46	97	0	0	0	0.00361	0	46	97				
MATN2	4147	broad.mit.edu	37	8	98973692	98973692	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:98973692C>T	ENST00000520016.1	+	4	1016	c.892C>T	c.(892-894)Ccg>Tcg	p.P298S	MATN2_ENST00000521689.1_Missense_Mutation_p.P298S|MATN2_ENST00000522025.2_Missense_Mutation_p.P14S|MATN2_ENST00000254898.5_Missense_Mutation_p.P298S|MATN2_ENST00000524308.1_Missense_Mutation_p.P298S			O00339	MATN2_HUMAN	matrilin 2	298	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.P298S(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)			TGTGAATGTGCCGGGCTCCTT	0.572																																							uc003yic.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(892-894)CCG>TCG		matrilin 2 isoform a precursor							123.0	127.0	126.0					8																	98973692		2113	4244	6357	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98973692C>T	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.892C>T	8.37:g.98973692C>T	ENSP00000430487:p.Pro298Ser					MATN2_uc003yib.1_Missense_Mutation_p.P298S|MATN2_uc010mbh.1_Missense_Mutation_p.P298S|MATN2_uc003yid.2_Missense_Mutation_p.P298S|MATN2_uc003yie.1_Missense_Mutation_p.P298S|MATN2_uc010mbi.1_Intron	p.P298S	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		5	1123	+	Breast(36;1.43e-06)		298			EGF-like 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.892C>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238180|3.238180	0.58886|0.58886	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521041|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000519585	.|D;D;D;D;D;D	.|0.95137	.|-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Epidermal growth factor-like (1);EGF-like calcium-binding (1);	.|0.243363	.|0.29100	.|N	.|0.013153	D|D	0.94912|0.94912	0.8355|0.8355	M|M	0.65975|0.65975	2.015|2.015	0.31762|0.31762	N|N	0.633288|0.633288	.|B;P;B	.|0.34412	.|0.399;0.453;0.22	.|B;P;B	.|0.48738	.|0.387;0.588;0.135	D|D	0.92537|0.92537	0.6038|0.6038	5|10	.|0.15499	.|T	.|0.54	-3.9373|-3.9373	13.2656|13.2656	0.60131|0.60131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|298;298;298	.|O00339-2;O00339;Q8N2G3	.|.;MATN2_HUMAN;.	V|S	52|298;298;298;298;14;298;14	.|ENSP00000429977:P298S;ENSP00000254898:P298S;ENSP00000430221:P298S;ENSP00000429010:P14S;ENSP00000430487:P298S;ENSP00000429042:P14S	.|ENSP00000254898:P298S	A|P	+|+	2|1	0|0	MATN2|MATN2	99042868|99042868	0.994000|0.994000	0.37717|0.37717	0.986000|0.986000	0.45419|0.45419	0.996000|0.996000	0.88848|0.88848	5.142000|5.142000	0.64820|0.64820	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.572	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			26	63	0	0	0	0.002096	0	26	63				
VPS13B	157680	broad.mit.edu	37	8	100832227	100832227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:100832227G>T	ENST00000358544.2	+	49	9057	c.8946G>T	c.(8944-8946)ttG>ttT	p.L2982F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2957F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2982					protein transport (GO:0015031)			p.L2957F(1)|p.L2982F(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACTTTGTTGATAGAACTTC	0.443																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8944-8946)TTG>TTT		vacuolar protein sorting 13B isoform 5							148.0	143.0	145.0					8																	100832227		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100832227G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8946G>T	8.37:g.100832227G>T	ENSP00000351346:p.Leu2982Phe					VPS13B_uc003yiw.2_Missense_Mutation_p.L2957F	p.L2982F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		49	9057	+	Breast(36;3.73e-07)		2982					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8946G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886671	0.72410	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.83163	-1.69;-1.69	6.06	5.18	0.71444	.	0.000000	0.64402	D	0.000002	D	0.84875	0.5569	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.911	D;P	0.85130	0.997;0.532	D	0.83562	0.0107	10	0.46703	T	0.11	.	10.3458	0.43906	0.0698:0.1357:0.7944:0.0	.	2957;2982	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	2957;2982	ENSP00000349685:L2957F;ENSP00000351346:L2982F	ENSP00000349685:L2957F	L	+	3	2	VPS13B	100901403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.595000	0.61048	2.882000	0.98803	0.655000	0.94253	TTG		0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	153	1	0	2.39187e-15	0.008871	3.54296e-15	19	153				
DPYS	1807	broad.mit.edu	37	8	105456612	105456612	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:105456612C>G	ENST00000351513.2	-	4	789	c.657G>C	c.(655-657)ctG>ctC	p.L219L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	219					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.L219L(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)			CTGGGCGGCACAGCTCGTGGC	0.532																																							uc003yly.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(655-657)CTG>CTC		dihydropyrimidinase							67.0	62.0	64.0					8																	105456612		2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456612C>G	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.657G>C	8.37:g.105456612C>G							p.L219L	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	786	-			219						Silent	SNP	ENST00000351513.2	37	c.657G>C	CCDS6302.1																																																																																				0.532	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	47	0	0	0	0.004482	0	7	47				
CSMD3	114788	broad.mit.edu	37	8	113323244	113323244	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113323244C>A	ENST00000297405.5	-	50	8092	c.7848G>T	c.(7846-7848)ggG>ggT	p.G2616G	CSMD3_ENST00000352409.3_Silent_p.G2546G|CSMD3_ENST00000343508.3_Silent_p.G2576G|CSMD3_ENST00000455883.2_Silent_p.G2512G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2616	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2576G(1)|p.G2616G(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						ATGCATGATACCCATAGGAAG	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7846-7848)GGG>GGT		CUB and Sushi multiple domains 3 isoform 1							143.0	116.0	125.0					8																	113323244		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113323244C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7848G>T	8.37:g.113323244C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G1818G|CSMD3_uc003ynt.2_Silent_p.G2576G|CSMD3_uc011lhx.1_Silent_p.G2512G|CSMD3_uc003ynw.1_Silent_p.G327G	p.G2616G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	8007	-			2616			Extracellular (Potential).|Sushi 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7848G>T	CCDS6315.1																																																																																				0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		43	81	1	0	1.68508e-10	0.009718	2.31181e-10	43	81				
CSMD3	114788	broad.mit.edu	37	8	113516125	113516125	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113516125T>C	ENST00000297405.5	-	30	5221	c.4977A>G	c.(4975-4977)caA>caG	p.Q1659Q	CSMD3_ENST00000352409.3_Silent_p.Q1659Q|CSMD3_ENST00000343508.3_Silent_p.Q1619Q|CSMD3_ENST00000455883.2_Silent_p.Q1555Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1659	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1619Q(1)|p.Q1659Q(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						ACTTGCTGTCTTGAAAACTTC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4975-4977)CAA>CAG		CUB and Sushi multiple domains 3 isoform 1							173.0	159.0	164.0					8																	113516125		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113516125T>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.4977A>G	8.37:g.113516125T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.Q931Q|CSMD3_uc003ynt.2_Silent_p.Q1619Q|CSMD3_uc011lhx.1_Silent_p.Q1555Q	p.Q1659Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			30	5136	-			1659			Extracellular (Potential).|CUB 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4977A>G	CCDS6315.1																																																																																				0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	85	0	0	0	0.005443	0	27	85				
CSMD3	114788	broad.mit.edu	37	8	113988189	113988189	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113988189C>A	ENST00000297405.5	-	7	1463	c.1219G>T	c.(1219-1221)Gac>Tac	p.D407Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D407Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D367Y|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	407						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D407Y(1)|p.D367Y(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						GTGTTGGGGTCCAGACCTGAA	0.478										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.(1219-1221)GAC>TAC		CUB and Sushi multiple domains 3 isoform 1							217.0	189.0	199.0					8																	113988189		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988189C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1219G>T	8.37:g.113988189C>A	ENSP00000297405:p.Asp407Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.D367Y|CSMD3_uc011lhx.1_Intron	p.D407Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1378	-			407			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1219G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055387	0.55325	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.20332	2.08;2.08;2.1	6.17	6.17	0.99709	.	0.629156	0.14680	N	0.304829	T	0.33089	0.0851	N	0.22421	0.69	0.40705	D	0.982512	P;P	0.49559	0.877;0.925	P;P	0.56960	0.525;0.81	T	0.04281	-1.0963	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	407;367	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	Y	367;407;407	ENSP00000345799:D367Y;ENSP00000297405:D407Y;ENSP00000343124:D407Y	ENSP00000297405:D407Y	D	-	1	0	CSMD3	114057365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.742000	0.55097	2.941000	0.99782	0.655000	0.94253	GAC		0.478	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	162	1	0	3.86212e-05	0.008291	4.43255e-05	9	162				
CSMD3	114788	broad.mit.edu	37	8	114111174	114111174	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:114111174C>T	ENST00000297405.5	-	5	972	c.728G>A	c.(727-729)gGa>gAa	p.G243E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G243E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.G203E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G243E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	243	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G203E(1)|p.G243E(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						TCTCATTGTTCCTCCACAAGC	0.388										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.(727-729)GGA>GAA		CUB and Sushi multiple domains 3 isoform 1							112.0	97.0	102.0					8																	114111174		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111174C>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.728G>A	8.37:g.114111174C>T	ENSP00000297405:p.Gly243Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G203E|CSMD3_uc011lhx.1_Missense_Mutation_p.G243E|CSMD3_uc010mcx.1_Missense_Mutation_p.G243E	p.G243E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	887	-			243			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.728G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892423	0.72524	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.1	4.21	0.49690	CUB (5);	0.000000	0.64402	D	0.000003	T	0.59321	0.2185	M	0.80982	2.52	0.38666	D	0.952182	P;P;D;D	0.76494	0.607;0.875;0.997;0.999	B;P;D;D	0.77557	0.255;0.461;0.92;0.99	T	0.62978	-0.6739	10	0.15952	T	0.53	.	15.8183	0.78621	0.0:0.8634:0.1366:0.0	.	243;243;243;203	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	E	203;243;243;243	ENSP00000345799:G203E;ENSP00000297405:G243E;ENSP00000412263:G243E;ENSP00000343124:G243E	ENSP00000297405:G243E	G	-	2	0	CSMD3	114180350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.807000	0.69157	1.268000	0.44264	-0.274000	0.10170	GGA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	56	0	0	0	0.008291	0	10	56				
TG	7038	broad.mit.edu	37	8	133941335	133941335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:133941335G>C	ENST00000220616.4	+	23	4754	c.4714G>C	c.(4714-4716)Gag>Cag	p.E1572Q	TG_ENST00000542445.1_Missense_Mutation_p.E6Q|TG_ENST00000377869.1_Missense_Mutation_p.E1515Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1572					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E1572Q(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGAAGTTTGAGAAGGTTCC	0.453																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4714-4716)GAG>CAG		thyroglobulin precursor							124.0	113.0	116.0					8																	133941335		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133941335G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4714G>C	8.37:g.133941335G>C	ENSP00000220616:p.Glu1572Gln					TG_uc010mdw.2_Missense_Mutation_p.E331Q|TG_uc011ljb.1_Missense_Mutation_p.E5Q|TG_uc003ytx.1_RNA	p.E1572Q	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	23	4755	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1572					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4714G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.18|11.18	1.563043|1.563043	0.27915|0.27915	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.68765|.	-0.35;-0.35;-0.35|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.287715|.	0.29868|.	N|.	0.010981|.	T|.	0.58438|.	0.2122|.	M|M	0.64404|0.64404	1.975|1.975	0.29407|0.29407	N|N	0.861542|0.861542	D;P|.	0.67145|.	0.996;0.912|.	D;B|.	0.63877|.	0.919;0.347|.	T|.	0.56607|.	-0.7951|.	10|.	0.48119|.	T|.	0.1|.	.|.	15.2568|15.2568	0.73591|0.73591	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6;1572|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	Q|S	1515;378;1572;6|91	ENSP00000367100:E1515Q;ENSP00000220616:E1572Q;ENSP00000441693:E6Q|.	ENSP00000220616:E1572Q|.	E|X	+|+	1|2	0|2	TG|TG	134010517|134010517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.097000|0.097000	0.18754|0.18754	4.764000|4.764000	0.62264|0.62264	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	130	0	0	0	0.000602	0	4	130				
GPAA1	8733	broad.mit.edu	37	8	145138042	145138042	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:145138042G>T	ENST00000355091.4	+	2	211	c.90G>T	c.(88-90)gtG>gtT	p.V30V	GPAA1_ENST00000361036.6_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	30					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.V30V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTACGTGGCGGGCATCG	0.672																																							uc003zax.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)GTG>GTT		glycosylphosphatidylinositol anchor attachment							25.0	30.0	28.0					8																	145138042		2062	4200	6262	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138042G>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.90G>T	8.37:g.145138042G>T						GPAA1_uc003zav.1_5'UTR|GPAA1_uc003zaw.1_Intron	p.V30V	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	200	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		30			Helical; (Potential).		Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.90G>T	CCDS43776.1																																																																																				0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		4	31	1	0	2.56e-06	0.009096	3.05268e-06	4	31				
PTPRD	5789	broad.mit.edu	37	9	8485784	8485784	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:8485784G>A	ENST00000381196.4	-	25	3576	c.3033C>T	c.(3031-3033)ttC>ttT	p.F1011F	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Silent_p.F1011F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.F1011F|PTPRD_ENST00000360074.4_Silent_p.F998F|PTPRD_ENST00000358503.5_Silent_p.F989F|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1011	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.F1011F(2)		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)		GCAGTGTCCTGAACTGGACAC	0.448										TSP Lung(15;0.13)																													uc003zkk.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3031-3033)TTC>TTT		protein tyrosine phosphatase, receptor type, D							71.0	67.0	68.0					9																	8485784		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.chr9:8485784G>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.3033C>T	9.37:g.8485784G>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.F1002F|PTPRD_uc003zkm.2_Silent_p.F998F|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.F1011F	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)	27	3744	-		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)	1011			Fibronectin type-III 7.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3033C>T	CCDS43786.1																																																																																				0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	15	0	0	0	0.001984	0	4	15				
BNC2	54796	broad.mit.edu	37	9	16435569	16435569	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:16435569G>A	ENST00000380672.4	-	6	2680	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	BNC2_ENST00000380666.2_Missense_Mutation_p.R875C|BNC2_ENST00000545497.1_Missense_Mutation_p.R780C|BNC2_ENST00000380667.2_Missense_Mutation_p.R808C	NM_017637.5	NP_060107.3			basonuclin 2									p.R875C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGGCTTCGGCGAGAGGGGAAT	0.498																																							uc003zml.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2623-2625)CGC>TGC		basonuclin 2							58.0	58.0	58.0					9																	16435569		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435569G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2623C>T	9.37:g.16435569G>A	ENSP00000370047:p.Arg875Cys					BNC2_uc011lmw.1_Missense_Mutation_p.R780C|BNC2_uc003zmm.2_Missense_Mutation_p.R833C|BNC2_uc003zmq.1_Missense_Mutation_p.R889C|BNC2_uc003zmr.1_Missense_Mutation_p.R912C|BNC2_uc003zmp.1_Missense_Mutation_p.R903C|BNC2_uc010mij.1_Missense_Mutation_p.R797C|BNC2_uc011lmv.1_Missense_Mutation_p.R701C|BNC2_uc003zmo.1_Missense_Mutation_p.R797C|BNC2_uc003zmj.2_Missense_Mutation_p.R640C|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R640C|BNC2_uc003zmn.1_Missense_Mutation_p.R640C	p.R875C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2763	-			875						Missense_Mutation	SNP	ENST00000380672.4	37	c.2623C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470829	0.63625	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.56776	1.54;0.44;0.94;1.54;1.54;1.54	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.991;0.996;0.996;0.985;0.991;0.994;0.991	T	0.73474	-0.3971	10	0.87932	D	0	-18.3147	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	780;808;875;875;832;875;780;640	F5H586;B1APH0;Q6ZN30-2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;BNC2_HUMAN;.;.	C	875;268;832;808;780;875;875	ENSP00000370047:R875C;ENSP00000392212:R268C;ENSP00000408370:R832C;ENSP00000370042:R808C;ENSP00000444640:R780C;ENSP00000370041:R875C	ENSP00000370041:R875C	R	-	1	0	BNC2	16425569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.510000	0.73729	2.805000	0.96524	0.655000	0.94253	CGC		0.498	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		4	32	0	0	0	0.009096	0	4	32				
BNC2	54796	broad.mit.edu	37	9	16552765	16552765	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:16552765T>A	ENST00000380672.4	-	5	491		c.e5-2		BNC2_ENST00000380666.2_Splice_Site|BNC2_ENST00000545497.1_Splice_Site|BNC2_ENST00000380667.2_Splice_Site	NM_017637.5	NP_060107.3			basonuclin 2									p.?(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TATCCAAGGCTGTGGTGGTCC	0.512																																							uc003zml.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e5-1		basonuclin 2							78.0	72.0	74.0					9																	16552765		2203	4300	6503	SO:0001630	splice_region_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16552765T>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.434-2A>T	9.37:g.16552765T>A						BNC2_uc011lmw.1_Splice_Site_p.A50_splice|BNC2_uc003zmm.2_Splice_Site_p.A103_splice|BNC2_uc003zmq.1_Splice_Site_p.A159_splice|BNC2_uc003zmr.1_Splice_Site_p.A182_splice|BNC2_uc003zmp.1_Splice_Site_p.A173_splice|BNC2_uc010mij.1_Splice_Site_p.A67_splice|BNC2_uc011lmv.1_Splice_Site|BNC2_uc003zmo.1_Splice_Site_p.A67_splice	p.A145_splice	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	574	-									Splice_Site	SNP	ENST00000380672.4	37	c.434_splice	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801983	0.90538	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BNC2	16542765	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.040000	0.89188	2.288000	0.76882	0.482000	0.46254	.		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	Intron	13	43	0	0	0	0.001855	0	13	43				
CNTFR	1271	broad.mit.edu	37	9	34564690	34564690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:34564690G>T	ENST00000378980.3	-	4	519	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	CNTFR_ENST00000351266.4_Missense_Mutation_p.L76I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	76	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.L76I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGCCATGGAGCACCAGCTGA	0.627																																							uc003zup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(226-228)CTC>ATC		ciliary neurotrophic factor receptor							95.0	75.0	82.0					9																	34564690		2203	4300	6503	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34564690G>T	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.226C>A	9.37:g.34564690G>T	ENSP00000368265:p.Leu76Ile					CNTFR_uc003zuq.1_Missense_Mutation_p.L76I	p.L76I	NM_147164	NP_671693	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	4	507	-	all_epithelial(49;0.0899)		76			Ig-like C2-type.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.226C>A	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438967	0.63067	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.74737	-0.87;-0.87;2.2	5.26	4.34	0.51931	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178195	0.37348	N	0.002131	T	0.69833	0.3155	L	0.51914	1.62	0.35006	D	0.756426	P	0.51057	0.941	B	0.43728	0.429	T	0.77392	-0.2605	9	0.40728	T	0.16	.	12.76	0.57359	0.0:0.0:0.8345:0.1655	.	76	P26992	CNTFR_HUMAN	I	76	ENSP00000368265:L76I;ENSP00000242338:L76I;ENSP00000388082:L76I	ENSP00000242338:L76I	L	-	1	0	CNTFR	34554690	1.000000	0.71417	0.759000	0.31340	0.968000	0.65278	3.486000	0.53215	1.168000	0.42723	0.467000	0.42956	CTC		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			10	46	1	0	7.48243e-07	0.006214	9.1057e-07	10	46				
ARID3C	138715	broad.mit.edu	37	9	34623453	34623454	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:34623453_34623454GC>TT	ENST00000378909.2	-	4	925_926	c.833_834GC>AA	c.(832-834)tGC>tAA	p.C278*	DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	278	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C278*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCAGCTGAGCGCATGCATGCGC	0.639																																							uc011lon.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(832-834)TGC>TAA		AT rich interactive domain 3C (BRIGHT- like)																																				SO:0001587	stop_gained	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623453_34623454GC>TT		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.833_834delinsTT	9.37:g.34623453_34623454delinsTT	ENSP00000368189:p.Cys278*					DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	p.C278*	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	833_834	-	all_epithelial(49;0.102)		278			Pro-rich.			Nonsense_Mutation	DNP	ENST00000378909.2	37	c.833_834GC>AA	CCDS35006.1																																																																																				0.639	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		57	221	0	0	0	0.004672	0	57	221				
ZNF658	26149	broad.mit.edu	37	9	40773112	40773112	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:40773112T>C	ENST00000602553.1	-	5	2457	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	ZNF658_ENST00000377626.3_Silent_p.K721K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K721K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGCAAATGTTTTCTCACATT	0.393																																							uc004abs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2161-2163)AAA>AAG		zinc finger protein 658							129.0	138.0	135.0					9																	40773112		2202	4295	6497	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773112T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2163A>G	9.37:g.40773112T>C						ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.K721K	p.K721K	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2315	-			721			C2H2-type 13.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.2163A>G	CCDS35023.1																																																																																				0.393	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		9	375	0	0	0	0.001855	0	9	375				
SPATA31A6	389730	broad.mit.edu	37	9	43627756	43627756	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:43627756G>T	ENST00000332857.6	-	4	959	c.931C>A	c.(931-933)Cag>Aag	p.Q311K	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	311					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q311K(1)|p.Q311E(1)									GCTTCCATCTGACAGGTCTCT	0.532																																							uc011lrb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>AAG		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43627756		291	875	1166	SO:0001583	missense	389730					integral to membrane		g.chr9:43627756G>T		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.931C>A	9.37:g.43627756G>T	ENSP00000329825:p.Gln311Lys						p.Q311K	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	960	-			311						Missense_Mutation	SNP	ENST00000332857.6	37	c.931C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821513	0.32237	.	.	ENSG00000185775	ENST00000332857	T	0.03772	3.81	1.91	0.917	0.19380	.	0.214284	0.23738	N	0.045045	T	0.12092	0.0294	M	0.61703	1.905	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.09314	-1.0680	10	0.33141	T	0.24	0.5118	5.3534	0.16047	0.0:0.0:0.665:0.335	.	311	Q5VVP1	F75A6_HUMAN	K	311	ENSP00000329825:Q311K	ENSP00000329825:Q311K	Q	-	1	0	FAM75A6	43567752	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.382000	0.20635	0.323000	0.23307	0.449000	0.29647	CAG		0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		9	366	1	0	0.000274275	0.004482	0.000305179	9	366				
PGM5	5239	broad.mit.edu	37	9	71006565	71006565	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:71006565G>C	ENST00000396396.1	+	5	1042	c.813G>C	c.(811-813)ctG>ctC	p.L271L	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.L271L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	271					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.L271L(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACCCAAACCTGACATATGCAA	0.493																																							uc004agr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(811-813)CTG>CTC		phosphoglucomutase 5							95.0	93.0	93.0					9																	71006565		2201	4298	6499	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71006565G>C	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.813G>C	9.37:g.71006565G>C							p.L271L	NM_021965	NP_068800	Q15124	PGM5_HUMAN			5	1042	+			271					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.813G>C	CCDS6622.2																																																																																				0.493	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		15	74	0	0	0	0.007413	0	15	74				
SPATA31C2	645961	broad.mit.edu	37	9	90747437	90747437	+	IGR	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:90747437G>T								U6 (134187 upstream) : U3 (241746 downstream)																							TGGGGTGGAGGCCAGATCCTG	0.612																																							uc011lti.1		NA																	0					NA						c.(514-516)GCC>GAC		SubName: Full=cDNA FLJ59639;							18.0	26.0	24.0					9																	90747437		692	1590	2282	SO:0001628	intergenic_variant	0							g.chr9:90747437G>T																													9.37:g.90747437G>T							p.A172D							4	544	-									Missense_Mutation	SNP		37	c.515C>A																																																																																				0	0.612									18	144	1	0	4.31634e-10	0.002445	5.84555e-10	18	144				
NOL8	55035	broad.mit.edu	37	9	95080959	95080959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:95080959C>G	ENST00000535387.1	-	5	426	c.427G>C	c.(427-429)Gtg>Ctg	p.V143L	NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000442668.2_Missense_Mutation_p.V143L|NOL8_ENST00000542053.1_Missense_Mutation_p.V75L|NOL8_ENST00000358855.4_Missense_Mutation_p.V75L|NOL8_ENST00000545558.1_Missense_Mutation_p.V143L					nucleolar protein 8									p.V143L(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AATTTGCTCACAACCCAATTC	0.279																																							uc004arv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(427-429)GTG>CTG		nucleolar protein 8							96.0	86.0	89.0					9																	95080959		1803	4068	5871	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95080959C>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.427G>C	9.37:g.95080959C>G	ENSP00000441300:p.Val143Leu					NOL8_uc010mqw.2_5'Flank|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.V75L|NOL8_uc004arx.2_Missense_Mutation_p.V143L	p.V143L	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			6	764	-			143						Missense_Mutation	SNP	ENST00000535387.1	37	c.427G>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057975	0.93846	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807;ENST00000536624	T;T;T;T;T;T;T;T;T	0.54071	2.11;1.84;2.11;2.31;1.84;1.86;0.59;0.65;0.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.52905	1.665	0.54753	D	0.999984	D	0.76494	0.999	D	0.85130	0.997	T	0.71481	-0.4580	10	0.87932	D	0	-12.3163	20.0314	0.97540	0.0:1.0:0.0:0.0	.	143	Q76FK4	NOL8_HUMAN	L	143;143;75;143;143;75;143;143;143;75;75;143	ENSP00000401177:V143L;ENSP00000351723:V75L;ENSP00000441140:V143L;ENSP00000441300:V143L;ENSP00000440709:V75L;ENSP00000414112:V143L;ENSP00000412471:V143L;ENSP00000390143:V143L;ENSP00000442037:V143L	ENSP00000351723:V75L	V	-	1	0	NOL8	94120780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.513000	0.73742	2.802000	0.96397	0.561000	0.74099	GTG		0.279	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		3	20	0	0	0	0.004672	0	3	20				
SVEP1	79987	broad.mit.edu	37	9	113151817	113151817	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:113151817C>T	ENST00000401783.2	-	41	10209	c.9873G>A	c.(9871-9873)gtG>gtA	p.V3291V	SVEP1_ENST00000374469.1_Silent_p.V3268V|SVEP1_ENST00000297826.5_Silent_p.V1217V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3291	Sushi 31. {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.V3294V(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						TGCATATTGCCACCCCTCCAC	0.433																																							uc010mtz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)	7						c.(9871-9873)GTG>GTA		polydom							179.0	171.0	174.0					9																	113151817		1949	4146	6095	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113151817C>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.9873G>A	9.37:g.113151817C>T						SVEP1_uc010mty.2_Silent_p.V1217V	p.V3291V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			41	10210	-			3291			Sushi 31.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.9873G>A	CCDS48004.1																																																																																				0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	54	0	0	0	0.008361	0	26	54				
DAB2IP	153090	broad.mit.edu	37	9	124544669	124544669	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:124544669G>A	ENST00000408936.3	+	16	3644	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	DAB2IP_ENST00000309989.1_Silent_p.Q1030Q|DAB2IP_ENST00000259371.2_Silent_p.Q1126Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1154					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.Q1030Q(1)|p.Q1126Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCTGACCCAGCTGAAAGAGA	0.582																																							uc004bln.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3376-3378)CAG>CAA		disabled homolog 2 interacting protein isoform							162.0	145.0	151.0					9																	124544669		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124544669G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3462G>A	9.37:g.124544669G>A						DAB2IP_uc004blo.2_Silent_p.Q1030Q|DAB2IP_uc004blp.2_Silent_p.Q559Q	p.Q1126Q	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			16	3447	+			1154			Potential.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.3378G>A																																																																																					0.582	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		4	126	0	0	0	0.009096	0	4	126				
LRRC8A	56262	broad.mit.edu	37	9	131669876	131669876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:131669876A>T	ENST00000259324.5	+	3	956	c.433A>T	c.(433-435)Aaa>Taa	p.K145*	LRRC8A_ENST00000372599.3_Nonsense_Mutation_p.K145*|LRRC8A_ENST00000372600.4_Nonsense_Mutation_p.K145*	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	145					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K145*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGGTTCAAATTCCCGCG	0.567																																							uc004bwl.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(433-435)AAA>TAA		leucine rich repeat containing 8 family, member							84.0	82.0	83.0					9																	131669876		2203	4300	6503	SO:0001587	stop_gained	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669876A>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.433A>T	9.37:g.131669876A>T	ENSP00000259324:p.Lys145*					LRRC8A_uc010myp.2_Nonsense_Mutation_p.K145*|LRRC8A_uc010myq.2_Nonsense_Mutation_p.K145*	p.K145*	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	687	+			145			Helical; (Potential).		Q6UXM2|Q8NCI0|Q9P2B1	Nonsense_Mutation	SNP	ENST00000259324.5	37	c.433A>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	39	7.780725	0.98486	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1956	0.65670	1.0:0.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000259324:K145X	K	+	1	0	LRRC8A	130709697	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	1.960000	0.56953	0.460000	0.39030	AAA		0.567	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		31	41	0	0	0	0.003755	0	31	41				
CAMSAP1	157922	broad.mit.edu	37	9	138715101	138715101	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:138715101G>A	ENST00000389532.4	-	11	1470	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A480V|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A191V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	469					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.A469V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGCTGGGACGCAGGCCTGAA	0.587																																							uc004cgr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1405-1407)GCG>GTG		calmodulin regulated spectrin-associated protein							72.0	58.0	63.0					9																	138715101		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138715101G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1406C>T	9.37:g.138715101G>A	ENSP00000374183:p.Ala469Val					CAMSAP1_uc004cgq.3_Missense_Mutation_p.A359V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A191V	p.A469V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1406	-			469					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1406C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	1.478	-0.558021	0.03967	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.12465	2.69;2.68;2.68	5.3	0.00807	0.14073	.	0.526393	0.20326	N	0.094522	T	0.04634	0.0126	N	0.01640	-0.785	0.23953	N	0.99637	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.36089	-0.9762	10	0.87932	D	0	-12.3365	9.1411	0.36903	0.6843:0.0:0.3157:0.0	.	469;480	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	469;191;480	ENSP00000374183:A469V;ENSP00000312463:A191V;ENSP00000386420:A480V	ENSP00000312463:A191V	A	-	2	0	CAMSAP1	137854922	0.359000	0.24955	0.992000	0.48379	0.433000	0.31745	3.388000	0.52509	-0.235000	0.09767	-0.302000	0.09304	GCG		0.587	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		9	54	0	0	0	0.004482	0	9	54				
MAMDC4	158056	broad.mit.edu	37	9	139749013	139749013	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:139749013T>A	ENST00000317446.2	+	8	869	c.819T>A	c.(817-819)ttT>ttA	p.F273L	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.F273L	NM_206920.2	NP_996803.2			MAM domain containing 4									p.F273L(2)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCACCGACTTTGAGACAGGCC	0.701																																							uc004cjs.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(817-819)TTT>TTA		apical early endosomal glycoprotein precursor							17.0	18.0	18.0					9																	139749013		2179	4285	6464	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139749013T>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.819T>A	9.37:g.139749013T>A	ENSP00000319388:p.Phe273Leu					MAMDC4_uc011mej.1_5'UTR	p.F273L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	8	869	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	273			MAM 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317446.2	37	c.819T>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.05|15.05	2.719186|2.719186	0.48728|0.48728	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.16897|.	2.31;2.31|.	4.61|4.61	0.83|0.83	0.18854|0.18854	.|.	0.116151|.	0.38548|.	N|.	0.001644|.	T|.	0.59514|.	0.2199|.	M|M	0.87682|0.87682	2.9|2.9	0.32397|0.32397	N|N	0.552464|0.552464	B|.	0.13594|.	0.008|.	B|.	0.13407|.	0.009|.	T|.	0.63125|.	-0.6707|.	10|.	0.87932|.	D|.	0|.	-10.617|-10.617	0.8228|0.8228	0.01115|0.01115	0.1594:0.1858:0.1649:0.4899|0.1594:0.1858:0.1649:0.4899	.|.	273|.	Q6UXC1-2|.	.|.	L|R	273|255	ENSP00000319388:F273L;ENSP00000411339:F273L|.	ENSP00000319388:F273L|.	F|X	+|+	3|1	2|0	MAMDC4|MAMDC4	138868834|138868834	0.155000|0.155000	0.22806|0.22806	0.911000|0.911000	0.35937|0.35937	0.061000|0.061000	0.15899|0.15899	-0.312000|-0.312000	0.08113|0.08113	-0.109000|-0.109000	0.12044|0.12044	-0.496000|-0.496000	0.04628|0.04628	TTT|TGA		0.701	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		10	6	0	0	0	0.001368	0	10	6				
PLCXD1	55344	broad.mit.edu	37	X	215875	215875	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:215875C>T	ENST00000381657.2	+	7	1359	c.845C>T	c.(844-846)gCg>gTg	p.A282V	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A282V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A282V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	282					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)	p.A282V(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCTGAGCGCGTGGGTCCGA	0.662																																							uc004cpc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(844-846)GCG>GTG		phosphatidylinositol-specific phospholipase C, X							96.0	88.0	91.0					X																	215875		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215875C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.845C>T	X.37:g.215875C>T	ENSP00000371073:p.Ala282Val					PLCXD1_uc011mgx.1_RNA	p.A282V	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			7	1157	+		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)	282					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.845C>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	1.066	-0.671379	0.03403	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.28895	1.59;1.59;1.59	1.77	1.77	0.24775	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.624341	0.16698	N	0.203257	T	0.12774	0.0310	.	.	.	0.09310	N	1	P	0.36412	0.552	B	0.18263	0.021	T	0.12372	-1.0550	9	0.33141	T	0.24	-20.2262	3.8987	0.09150	0.0:0.6103:0.0:0.3897	.	282	Q9NUJ7	PLCX1_HUMAN	V	282	ENSP00000381976:A282V;ENSP00000371073:A282V;ENSP00000371079:A282V	ENSP00000371073:A282V	A	+	2	0	PLCXD1	155875	0.008000	0.16893	0.300000	0.25030	0.158000	0.22134	0.483000	0.22292	0.932000	0.37266	0.181000	0.17075	GCG		0.662	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		16	22	0	0	0	0.007413	0	16	22				
PTCHD1	139411	broad.mit.edu	37	X	23412154	23412154	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:23412154C>A	ENST00000379361.4	+	3	3379	c.2519C>A	c.(2518-2520)gCc>gAc	p.A840D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	840					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.A735D(1)|p.A840D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACTGCTTTGCCATTTTACCT	0.418																																							uc004dal.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(2518-2520)GCC>GAC		patched domain containing 1							145.0	134.0	138.0					X																	23412154		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412154C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2519C>A	X.37:g.23412154C>A	ENSP00000368666:p.Ala840Asp						p.A840D	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2527	+			840			Helical; (Potential).		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2519C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854104	0.51270	.	.	ENSG00000165186	ENST00000379361	D	0.85556	-2.0	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	L	0.40543	1.245	0.50813	D	0.999899	P	0.40000	0.698	D	0.63877	0.919	D	0.88773	0.3265	10	0.87932	D	0	.	10.6745	0.45778	0.0:0.9079:0.0:0.0921	.	840	Q96NR3	PTHD1_HUMAN	D	840	ENSP00000368666:A840D	ENSP00000368666:A840D	A	+	2	0	PTCHD1	23322075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.633000	0.61318	2.006000	0.58801	0.429000	0.28392	GCC		0.418	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		8	185	1	0	0.000157383	0.00308	0.000176986	8	185				
CXorf21	80231	broad.mit.edu	37	X	30578175	30578175	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:30578175C>A	ENST00000378962.3	-	3	620	c.298G>T	c.(298-300)Gtt>Ttt	p.V100F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	100								p.V100F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATATTTCAACTGCAGCCAAG	0.443																																							uc004dcg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)GTT>TTT		hypothetical protein LOC80231							129.0	130.0	130.0					X																	30578175		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578175C>A	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.298G>T	X.37:g.30578175C>A	ENSP00000368245:p.Val100Phe						p.V100F	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	574	-			100						Missense_Mutation	SNP	ENST00000378962.3	37	c.298G>T	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735021	0.30774	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.25	3.44	0.39384	.	0.660615	0.13894	N	0.355436	T	0.33904	0.0879	L	0.54323	1.7	0.09310	N	1	B	0.32467	0.372	B	0.34385	0.181	T	0.42430	-0.9452	9	0.59425	D	0.04	-5.6926	1.1932	0.01869	0.161:0.426:0.1536:0.2595	.	100	Q9HAI6	CX021_HUMAN	F	100	.	ENSP00000368245:V100F	V	-	1	0	CXorf21	30488096	0.051000	0.20477	0.983000	0.44433	0.943000	0.58893	0.373000	0.20484	1.185000	0.42971	0.544000	0.68410	GTT		0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		7	222	1	0	0.00198382	0.001984	0.00213469	7	222				
DMD	1756	broad.mit.edu	37	X	32305789	32305789	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:32305789T>A	ENST00000357033.4	-	43	6353	c.6147A>T	c.(6145-6147)tcA>tcT	p.S2049S	DMD_ENST00000378677.2_Silent_p.S2045S	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	2049					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.S708S(1)|p.S2049S(1)|p.S2044S(1)|p.S2045S(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)				CAATCCGACCTGAGCTTTGTT	0.338																																							uc004dda.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6145-6147)TCA>TCT		dystrophin Dp427m isoform							75.0	58.0	64.0					X																	32305789		2202	4300	6502	SO:0001819	synonymous_variant	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:32305789T>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.6147A>T	X.37:g.32305789T>A						DMD_uc004dcw.2_Silent_p.S705S|DMD_uc004dcx.2_Silent_p.S708S|DMD_uc004dcz.2_Silent_p.S1926S|DMD_uc004dcy.1_Silent_p.S2045S|DMD_uc004ddb.1_Silent_p.S2041S|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.S2049S	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6391	-		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)	2049			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6147A>T	CCDS14233.1																																																																																				0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	26	0	0	0	0.000602	0	5	26				
FAM47B	170062	broad.mit.edu	37	X	34961456	34961456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:34961456G>T	ENST00000329357.5	+	1	544	c.508G>T	c.(508-510)Gag>Tag	p.E170*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	170								p.E170*(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGAGGCCCGGGAGAAGACAAC	0.597																																							uc004ddi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(508-510)GAG>TAG		hypothetical protein LOC170062							36.0	35.0	35.0					X																	34961456		2202	4300	6502	SO:0001587	stop_gained	170062							g.chrX:34961456G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.508G>T	X.37:g.34961456G>T	ENSP00000328307:p.Glu170*						p.E170*	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	526	+			170					Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	ENST00000329357.5	37	c.508G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019872	0.35606	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.843	-0.501	0.12008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	.	.	.	.	.	.	.	X	170	.	ENSP00000328307:E170X	E	+	1	0	FAM47B	34871377	0.147000	0.22687	0.004000	0.12327	0.035000	0.12851	1.545000	0.36169	-0.236000	0.09753	0.292000	0.19580	GAG		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		23	15	1	0	2.89027e-11	0.002299	4.01756e-11	23	15				
CXorf22	170063	broad.mit.edu	37	X	35993266	35993266	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:35993266C>A	ENST00000297866.5	+	14	2323	c.2257C>A	c.(2257-2259)Cct>Act	p.P753T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	753								p.P753T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTTTCAGGGCCTTCTGTCCT	0.289																																							uc004ddj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2257-2259)CCT>ACT		hypothetical protein LOC170063							70.0	67.0	68.0					X																	35993266		2202	4294	6496	SO:0001583	missense	170063							g.chrX:35993266C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2257C>A	X.37:g.35993266C>A	ENSP00000297866:p.Pro753Thr					CXorf22_uc010ngv.2_Intron	p.P753T	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			14	2316	+			753					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2257C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445623	0.43429	.	.	ENSG00000165164	ENST00000297866	T	0.21543	2.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.78049	2.395	0.33365	D	0.572782	D	0.89917	1.0	D	0.97110	1.0	T	0.60806	-0.7190	10	0.37606	T	0.19	-12.5265	15.1651	0.72818	0.0:1.0:0.0:0.0	.	753	Q6ZTR5	CX022_HUMAN	T	753	ENSP00000297866:P753T	ENSP00000297866:P753T	P	+	1	0	CXorf22	35903187	0.983000	0.35010	0.503000	0.27626	0.387000	0.30353	4.759000	0.62227	2.169000	0.68431	0.544000	0.68410	CCT		0.289	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		13	32	1	0	4.36969e-10	0.001855	5.90095e-10	13	32				
FAM47C	442444	broad.mit.edu	37	X	37026518	37026518	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:37026518C>A	ENST00000358047.3	+	1	87	c.35C>A	c.(34-36)tCc>tAc	p.S12Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	12								p.S12Y(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						CGGCCCAGTTCCCCGGGCATG	0.662																																							uc004ddl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(34-36)TCC>TAC		hypothetical protein LOC442444							19.0	19.0	19.0					X																	37026518		2201	4298	6499	SO:0001583	missense	442444							g.chrX:37026518C>A	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.35C>A	X.37:g.37026518C>A	ENSP00000367913:p.Ser12Tyr						p.S12Y	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	49	+			12					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.35C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	7.744	0.701829	0.15172	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.746	0.746	0.18365	.	.	.	.	.	T	0.13329	0.0323	N	0.22421	0.69	0.09310	N	1	B	0.25351	0.124	B	0.28553	0.091	T	0.31223	-0.9951	8	0.34782	T	0.22	.	.	.	.	.	12	Q5HY64	FA47C_HUMAN	Y	12	ENSP00000367913:S12Y	ENSP00000367913:S12Y	S	+	2	0	FAM47C	36936439	0.017000	0.18338	0.099000	0.21106	0.152000	0.21847	-0.154000	0.10130	0.652000	0.30806	0.287000	0.19450	TCC		0.662	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	19	1	0	0.000602214	0.000602	0.000665384	5	19				
SYTL5	94122	broad.mit.edu	37	X	37984667	37984667	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:37984667T>A	ENST00000357972.5	+	16	2504	c.1958T>A	c.(1957-1959)aTa>aAa	p.I653K	SYTL5_ENST00000456733.2_Missense_Mutation_p.I675K|SYTL5_ENST00000297875.2_Missense_Mutation_p.I653K|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	653	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.I653K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCCCAGGATATAAAGAATGTT	0.433																																							uc004ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1957-1959)ATA>AAA		synaptotagmin-like 5 isoform 1							136.0	121.0	126.0					X																	37984667		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37984667T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1958T>A	X.37:g.37984667T>A	ENSP00000350657:p.Ile653Lys					SYTL5_uc004ddv.2_Missense_Mutation_p.I653K|SYTL5_uc004ddx.2_Missense_Mutation_p.I675K	p.I653K	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			17	2492	+			653			C2 2.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1958T>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207782	0.79240	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.08546	3.08;3.08;3.08	5.76	5.76	0.90799	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.159299	0.64402	D	0.000019	T	0.18425	0.0442	L	0.38953	1.18	0.80722	D	1	D;P	0.56968	0.978;0.941	P;P	0.60886	0.88;0.449	T	0.00453	-1.1730	10	0.87932	D	0	-12.5909	15.0473	0.71838	0.0:0.0:0.0:1.0	.	675;653	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	K	653;653;675	ENSP00000297875:I653K;ENSP00000350657:I653K;ENSP00000395220:I675K	ENSP00000297875:I653K	I	+	2	0	SYTL5	37869611	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	8.005000	0.88553	1.936000	0.56123	0.417000	0.27973	ATA		0.433	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		27	68	0	0	0	0.00632	0	27	68				
SRPX	8406	broad.mit.edu	37	X	38033550	38033550	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:38033550G>A	ENST00000378533.3	-	3	318	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SRPX_ENST00000544439.1_Missense_Mutation_p.A51V|SRPX_ENST00000343800.6_Missense_Mutation_p.A58V|SRPX_ENST00000538295.1_Missense_Mutation_p.A71V|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.A71V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	71	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A71V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCCTTGAGGGGCCCTGCAGTA	0.517																																							uc004ddy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GCC>GTC		sushi-repeat-containing protein, X-linked							93.0	69.0	77.0					X																	38033550		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38033550G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.212C>T	X.37:g.38033550G>A	ENSP00000367794:p.Ala71Val					SRPX_uc004ddz.1_Missense_Mutation_p.A51V|SRPX_uc011mkh.1_Missense_Mutation_p.A71V|SRPX_uc011mki.1_Missense_Mutation_p.A71V	p.A71V	NM_006307	NP_006298	P78539	SRPX_HUMAN			3	298	-			71			Sushi 1.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.212C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386686	0.82902	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.148781	0.64402	D	0.000016	T	0.65154	0.2664	L	0.54323	1.7	0.41396	D	0.987642	P;P;P;P	0.46020	0.58;0.871;0.775;0.811	P;P;B;B	0.49799	0.476;0.622;0.306;0.433	T	0.62459	-0.6850	10	0.26408	T	0.33	-21.9049	13.6997	0.62602	0.0:0.2759:0.7241:0.0	.	71;71;51;71	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	V	51;71;71;71;58	ENSP00000440758:A51V;ENSP00000411165:A71V;ENSP00000445034:A71V;ENSP00000367794:A71V;ENSP00000339211:A58V	ENSP00000339211:A58V	A	-	2	0	SRPX	37918494	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.867000	0.69597	2.388000	0.81334	0.600000	0.82982	GCC		0.517	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		21	14	0	0	0	0.001882	0	21	14				
GRIPAP1	56850	broad.mit.edu	37	X	48832429	48832429	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:48832429C>A	ENST00000376441.1	-	24	2313		c.e24+1		GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Splice_Site|GRIPAP1_ENST00000376444.3_Splice_Site	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)		p.?(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGACACTGACCGATCCGGCT	0.617																																							uc004dly.1		NA																	2	Unknown(2)		lung(2)	breast(2)|kidney(1)	3						c.e24+1		GRIP1 associated protein 1 isoform 1							64.0	43.0	50.0					X																	48832429		2203	4300	6503	SO:0001630	splice_region_variant	56850					early endosome		g.chrX:48832429C>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2278+1G>T	X.37:g.48832429C>A							p.D760_splice	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			24	2313	-								A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Splice_Site	SNP	ENST00000376441.1	37	c.2278_splice	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967748	0.74131	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4533	0.67399	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIPAP1	48717373	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	6.951000	0.75983	2.107000	0.64212	0.534000	0.68092	.		0.617	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	Intron	6	20	1	0	0.000157383	0.00308	0.000176986	6	20				
DGKK	139189	broad.mit.edu	37	X	50133404	50133405	+	RNA	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:50133404_50133405CC>AA	ENST00000376025.2	-	0	1906_1907							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.W412S(2)|p.W412C(1)|p.W412F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCACACTCCATCTGAAATG	0.391																																							uc010njr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|kidney(1)	2						c.(1846-1848)TGG>TTT		diacylglycerol kinase kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50133404_50133405CC>AA	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6		Exception_encountered	X.37:g.50133404_50133405delinsAA							p.W616F	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			12	1907_1908	-	Ovarian(276;0.236)		616			DAGKc.		B2RP91	Missense_Mutation	DNP	ENST00000376025.2	37	c.1847_1848GG>TT																																																																																					0.391	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		23	82	0	0	0	0.004672	0	23	82				
HUWE1	10075	broad.mit.edu	37	X	53675171	53675171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:53675171G>A	ENST00000342160.3	-	4	585	c.128C>T	c.(127-129)aCa>aTa	p.T43I	HUWE1_ENST00000262854.6_Missense_Mutation_p.T43I|HUWE1_ENST00000218328.8_Missense_Mutation_p.T43I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	43					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.T43I(2)		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						AATGTTCCATGTTTTGATCTG	0.388																																							uc004dsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(127-129)ACA>ATA		HECT, UBA and WWE domain containing 1							146.0	114.0	125.0					X																	53675171		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:53675171G>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.128C>T	X.37:g.53675171G>A	ENSP00000340648:p.Thr43Ile						p.T43I	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			5	530	-			43					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.128C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398490	0.83120	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.45668	1.21;1.21;0.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	P	0.61874	0.895	T	0.63646	-0.6590	10	0.72032	D	0.01	.	17.277	0.87119	0.0:0.0:1.0:0.0	.	43	Q7Z6Z7	HUWE1_HUMAN	I	43	ENSP00000340648:T43I;ENSP00000262854:T43I;ENSP00000218328:T43I	ENSP00000218328:T43I	T	-	2	0	HUWE1	53691896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.346000	0.79739	0.600000	0.82982	ACA		0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		30	19	0	0	0	0.008361	0	30	19				
EFNB1	1947	broad.mit.edu	37	X	68060320	68060320	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:68060320C>T	ENST00000204961.4	+	5	1644	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	288					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.P288P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TGGCCAGTCCCAAGGGGGGCA	0.607																																							uc004dxd.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)CCC>CCT		ephrin-B1 precursor							38.0	30.0	32.0					X																	68060320		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060320C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.864C>T	X.37:g.68060320C>T						EFNB1_uc004dxe.2_Silent_p.P288P	p.P288P	NM_004429	NP_004420	P98172	EFNB1_HUMAN			5	1644	+			288			Cytoplasmic (Potential).		D3DVU0	Silent	SNP	ENST00000204961.4	37	c.864C>T	CCDS14391.1																																																																																				0.607	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		4	18	0	0	0	0.009096	0	4	18				
KIAA2022	340533	broad.mit.edu	37	X	73960665	73960665	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:73960665G>A	ENST00000055682.6	-	3	4338	c.3727C>T	c.(3727-3729)Cgt>Tgt	p.R1243C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1243					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R1243C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCCCCACGGCCAATGCCA	0.493																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3727-3729)CGT>TGT		hypothetical protein LOC340533							110.0	75.0	86.0					X																	73960665		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960665G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3727C>T	X.37:g.73960665G>A	ENSP00000055682:p.Arg1243Cys						p.R1243C	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4344	-			1243					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3727C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087867	0.08583	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33216	1.42;1.42	4.94	4.07	0.47477	.	0.499042	0.23369	N	0.048922	T	0.19927	0.0479	N	0.24115	0.695	0.34057	D	0.656847	B	0.10296	0.003	B	0.10450	0.005	T	0.13899	-1.0492	10	0.87932	D	0	-0.2586	7.3167	0.26505	0.0:0.1339:0.5084:0.3577	.	1243	Q5QGS0	K2022_HUMAN	C	1243	ENSP00000362567:R1243C;ENSP00000055682:R1243C	ENSP00000055682:R1243C	R	-	1	0	KIAA2022	73877390	0.023000	0.18921	0.445000	0.26908	0.590000	0.36582	0.728000	0.26013	1.055000	0.40461	-0.229000	0.12294	CGT		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		21	15	0	0	0	0.003954	0	21	15				
P2RY10	27334	broad.mit.edu	37	X	78216969	78216969	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:78216969C>T	ENST00000171757.2	+	4	1232	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	P2RY10_ENST00000544091.1_Missense_Mutation_p.R318C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCAACTATCCCGCCATGGCAG	0.443																																							uc004ede.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(952-954)CGC>TGC		G-protein coupled purinergic receptor P2Y10							116.0	110.0	112.0					X																	78216969		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216969C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.952C>T	X.37:g.78216969C>T	ENSP00000171757:p.Arg318Cys					P2RY10_uc004edf.2_Missense_Mutation_p.R318C	p.R318C	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1321	+			318			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.952C>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628417	0.28978	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.41758	0.99;0.99	4.99	4.99	0.66335	.	1.640790	0.03461	N	0.212117	T	0.48040	0.1478	N	0.14661	0.345	0.24187	N	0.99556	D	0.76494	0.999	P	0.61275	0.886	T	0.49254	-0.8959	10	0.62326	D	0.03	.	9.7794	0.40639	0.3199:0.6801:0.0:0.0	.	318	O00398	P2Y10_HUMAN	C	318	ENSP00000443138:R318C;ENSP00000171757:R318C	ENSP00000171757:R318C	R	+	1	0	P2RY10	78103625	.	.	0.086000	0.20670	0.405000	0.30901	.	.	2.311000	0.77944	0.597000	0.82753	CGC		0.443	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			57	37	0	0	0	0.00361	0	57	37				
PABPC5	140886	broad.mit.edu	37	X	90691098	90691098	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:90691098G>A	ENST00000312600.3	+	2	736	c.522G>A	c.(520-522)caG>caA	p.Q174Q	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Silent_p.Q10Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q174Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACAACCGCCAGGTGTATGTTG	0.502																																							uc004efg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(520-522)CAG>CAA		poly(A) binding protein, cytoplasmic 5							37.0	35.0	36.0					X																	90691098		2203	4300	6503	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691098G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.522G>A	X.37:g.90691098G>A						PABPC5_uc004eff.1_Silent_p.Q10Q	p.Q174Q	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	962	+			174			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.522G>A	CCDS14460.1																																																																																				0.502	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		19	45	0	0	0	0.006122	0	19	45				
BTK	695	broad.mit.edu	37	X	100630242	100630242	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:100630242G>C	ENST00000308731.7	-	2	194	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.L11V	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	11	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		L -> 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.L11V(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						GATCGCTTCAGAAAGATGCTC	0.438									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CI983718	BTK	I		c.(31-33)CTG>GTG		Bruton agammaglobulinemia tyrosine kinase							160.0	143.0	149.0					X																	100630242		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:100630242G>C	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.31C>G	X.37:g.100630242G>C	ENSP00000308176:p.Leu11Val					BTK_uc010nnn.2_Missense_Mutation_p.L11V|BTK_uc010nno.2_Missense_Mutation_p.L45V|BTK_uc004ehi.2_Missense_Mutation_p.L11V	p.L11V	NM_000061	NP_000052	Q06187	BTK_HUMAN			2	224	-			11		L -> P (in XLA).	PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.31C>G	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350243	0.41599	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93547	-3.24;-3.24	5.35	3.59	0.41128	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.071603	0.64402	D	0.000020	D	0.86372	0.5917	N	0.16368	0.405	0.46609	D	0.999125	P;B;P	0.44241	0.642;0.139;0.829	P;B;B	0.45998	0.5;0.112;0.419	T	0.79928	-0.1596	10	0.10636	T	0.68	.	7.9822	0.30190	0.3337:0.0:0.6663:0.0	.	11;11;11	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	V	11	ENSP00000361971:L11V;ENSP00000308176:L11V	ENSP00000308176:L11V	L	-	1	2	BTK	100516898	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	0.947000	0.29082	0.479000	0.27511	0.600000	0.82982	CTG		0.438	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		44	110	0	0	0	0.002522	0	44	110				
ZMAT1	84460	broad.mit.edu	37	X	101138621	101138621	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:101138621A>C	ENST00000372782.3	-	7	1825	c.1778T>G	c.(1777-1779)cTt>cGt	p.L593R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L593R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.L422R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	593						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L593R(1)|p.L422R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCGATGCTTAAGCTTTCCTGA	0.373																																							uc004eim.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1264-1266)CTT>CGT		zinc finger, matrin type 1 isoform 3							220.0	184.0	196.0					X																	101138621		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138621A>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1778T>G	X.37:g.101138621A>C	ENSP00000361868:p.Leu593Arg					ZMAT1_uc011mrl.1_Missense_Mutation_p.L593R|ZMAT1_uc004ein.2_Missense_Mutation_p.L422R|ZMAT1_uc011mrm.1_Missense_Mutation_p.L422R	p.L422R	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4763	-			422					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1265T>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501431	0.44455	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23348	2.49;2.49;1.91	4.27	0.533	0.17121	.	0.917930	0.09181	N	0.837492	T	0.31040	0.0784	L	0.50333	1.59	0.23036	N	0.998397	D	0.56035	0.974	P	0.52267	0.694	T	0.18147	-1.0346	10	0.56958	D	0.05	-0.0083	5.8148	0.18486	0.6373:0.0:0.3627:0.0	.	593	Q5H9K5	ZMAT1_HUMAN	R	593;593;422	ENSP00000361868:L593R;ENSP00000437529:L593R;ENSP00000413044:L422R	ENSP00000361868:L593R	L	-	2	0	ZMAT1	101025277	0.890000	0.30428	0.725000	0.30721	0.984000	0.73092	1.433000	0.34947	-0.014000	0.14175	0.486000	0.48141	CTT		0.373	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			6	122	0	0	0	0.006214	0	6	122				
COL4A5	1287	broad.mit.edu	37	X	107938500	107938500	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:107938500A>T	ENST00000361603.2	+	50	5051	c.4807A>T	c.(4807-4809)Aca>Tca	p.T1603S	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1609S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1603	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.T1603S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTATAGCATACAAGTGCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4825-4827)ACA>TCA		type IV collagen alpha 5 isoform 2 precursor							131.0	116.0	121.0					X																	107938500		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938500A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4807A>T	X.37:g.107938500A>T	ENSP00000354505:p.Thr1603Ser					COL4A5_uc011mso.1_Missense_Mutation_p.T1606S|COL4A5_uc011msp.1_Missense_Mutation_p.T285S	p.T1609S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			51	5027	+			1603		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4825A>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386166	0.82902	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94537	-3.45;-3.45	5.43	4.23	0.50019	C-type lectin fold (1);	0.114973	0.64402	N	0.000018	D	0.97195	0.9083	M	0.88979	2.995	0.58432	D	0.999991	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	D	0.96648	0.9479	10	0.72032	D	0.01	.	10.8239	0.46620	0.8563:0.0:0.0:0.1437	.	1606;1603	E7EVY4;P29400	.;CO4A5_HUMAN	S	1609;1603;1609	ENSP00000331902:T1609S;ENSP00000354505:T1603S	ENSP00000331902:T1609S	T	+	1	0	COL4A5	107825156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.450000	0.80656	0.663000	0.31027	0.481000	0.45027	ACA		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			23	93	0	0	0	0.00632	0	23	93				
CHRDL1	91851	broad.mit.edu	37	X	109931883	109931883	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:109931883G>A	ENST00000372045.1	-	9	1037	c.906C>T	c.(904-906)tgC>tgT	p.C302C	CHRDL1_ENST00000444321.2_Silent_p.C308C|CHRDL1_ENST00000372042.1_Silent_p.C309C|CHRDL1_ENST00000434224.1_Silent_p.C229C|CHRDL1_ENST00000482160.1_Silent_p.C229C|CHRDL1_ENST00000394797.4_Silent_p.C308C|CHRDL1_ENST00000218054.4_Silent_p.C308C			Q9BU40	CRDL1_HUMAN	chordin-like 1	302	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.C308C(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAGGATACTTGCAGGGGTATC	0.463																																							uc004eou.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)TGC>TGT		chordin-like 1 isoform 1 precursor							185.0	171.0	176.0					X																	109931883		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109931883G>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.906C>T	X.37:g.109931883G>A						CHRDL1_uc004eov.2_Silent_p.C303C|CHRDL1_uc004eow.2_Silent_p.C308C|CHRDL1_uc010nps.2_Silent_p.C308C|CHRDL1_uc004eot.2_Silent_p.C229C|CHRDL1_uc011mss.1_Silent_p.C223C	p.C309C	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			9	1276	-			302			VWFC 3.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.927C>T																																																																																					0.463	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		43	135	0	0	0	0.00874	0	43	135				
LAMP2	3920	broad.mit.edu	37	X	119575734	119575734	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:119575734T>A	ENST00000200639.4	-	8	1080	c.944A>T	c.(943-945)aAt>aTt	p.N315I	LAMP2_ENST00000540603.1_Missense_Mutation_p.N268I|LAMP2_ENST00000538785.1_Missense_Mutation_p.N204I|LAMP2_ENST00000371335.4_Missense_Mutation_p.N315I|LAMP2_ENST00000434600.2_Missense_Mutation_p.N315I			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	315	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.N315I(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GAGATTGTTATTTGCAATGCT	0.418																																							uc004est.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(943-945)AAT>ATT		lysosomal-associated membrane protein 2 isoform							73.0	69.0	70.0					X																	119575734		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575734T>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.944A>T	X.37:g.119575734T>A	ENSP00000200639:p.Asn315Ile					LAMP2_uc004ess.3_Missense_Mutation_p.N315I|LAMP2_uc011mtz.1_Missense_Mutation_p.N204I|LAMP2_uc011mua.1_Missense_Mutation_p.N268I|LAMP2_uc010nqp.1_Missense_Mutation_p.N315I	p.N315I	NM_002294	NP_002285	P13473	LAMP2_HUMAN			8	1124	-			315			Lumenal (Potential).|Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.944A>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205473	0.79127	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.91612	3.225	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	1.0;1.0;1.0;1.0;1.0	T	0.78819	-0.2054	10	0.87932	D	0	-28.0287	14.2089	0.65753	0.0:0.0:0.0:1.0	.	268;204;315;315;315	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	I	315;204;315;315;268	ENSP00000408411:N315I;ENSP00000440506:N204I;ENSP00000200639:N315I;ENSP00000360386:N315I;ENSP00000440479:N268I	ENSP00000200639:N315I	N	-	2	0	LAMP2	119459762	1.000000	0.71417	0.447000	0.26932	0.989000	0.77384	2.143000	0.42187	1.953000	0.56701	0.481000	0.45027	AAT		0.418	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			24	87	0	0	0	0.004656	0	24	87				
IGSF1	3547	broad.mit.edu	37	X	130409258	130409258	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:130409258A>C	ENST00000361420.3	-	17	3266	c.3187T>G	c.(3187-3189)Tta>Gta	p.L1063V	IGSF1_ENST00000370904.1_Missense_Mutation_p.L1054V|IGSF1_ENST00000370903.3_Missense_Mutation_p.L1068V|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.L1054V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1063					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L1063V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGGGGAGTAAGCCTGGAAGA	0.517																																							uc004ewd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3187-3189)TTA>GTA		immunoglobulin superfamily, member 1 isoform 1							63.0	65.0	64.0					X																	130409258		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409258A>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3187T>G	X.37:g.130409258A>C	ENSP00000355010:p.Leu1063Val					IGSF1_uc004ewe.3_Missense_Mutation_p.L1057V|IGSF1_uc004ewf.2_Missense_Mutation_p.L1043V	p.L1063V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			17	3425	-			1063			Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3187T>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.423817	0.01126	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00678	5.88;5.88;5.88;5.87	4.83	3.66	0.41972	Immunoglobulin-like fold (1);	0.770615	0.11386	N	0.569291	T	0.01421	0.0046	L	0.33093	0.98	0.23435	N	0.997681	D;D;P	0.67145	0.99;0.996;0.956	D;P;D	0.65010	0.917;0.82;0.931	T	0.24584	-1.0156	10	0.02654	T	1	.	6.5429	0.22390	0.8907:0.0:0.1093:0.0	.	1054;507;1063	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	1054;1063;1054;1068	ENSP00000359947:L1054V;ENSP00000355010:L1063V;ENSP00000359941:L1054V;ENSP00000359940:L1068V	ENSP00000355010:L1063V	L	-	1	2	IGSF1	130236939	0.996000	0.38824	0.974000	0.42286	0.577000	0.36160	1.775000	0.38584	0.771000	0.33359	-0.334000	0.08254	TTA		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	150	0	0	0	0.00308	0	7	150				
GPR112	139378	broad.mit.edu	37	X	135427278	135427278	+	Silent	SNP	T	T	A	rs185759057		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:135427278T>A	ENST00000394143.1	+	6	1704	c.1413T>A	c.(1411-1413)ccT>ccA	p.P471P	GPR112_ENST00000370652.1_Silent_p.P471P|GPR112_ENST00000394141.1_Silent_p.P266P|GPR112_ENST00000412101.1_Silent_p.P266P|GPR112_ENST00000287534.4_Silent_p.P408P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	471					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.P471P(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)					CACCTGAGCCTGTGCTCATCT	0.448																																							uc004ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1411-1413)CCT>CCA		G-protein coupled receptor 112							96.0	82.0	87.0					X																	135427278		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427278T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1413T>A	X.37:g.135427278T>A						GPR112_uc010nsb.1_Silent_p.P266P|GPR112_uc010nsc.1_Silent_p.P238P	p.P471P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1704	+	Acute lymphoblastic leukemia(192;0.000127)		471			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.1413T>A	CCDS35409.1																																																																																				0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	78	0	0	0	0.000602	0	5	78				
GPR112	139378	broad.mit.edu	37	X	135431636	135431637	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:135431636_135431637CC>AA	ENST00000394143.1	+	6	6062_6063	c.5771_5772CC>AA	c.(5770-5772)gCC>gAA	p.A1924E	GPR112_ENST00000370652.1_Missense_Mutation_p.A1924E|GPR112_ENST00000394141.1_Missense_Mutation_p.A1719E|GPR112_ENST00000412101.1_Missense_Mutation_p.A1719E|GPR112_ENST00000287534.4_Missense_Mutation_p.A1861E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1924					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.A1924E(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)					ACATTCACAGCCTCTCAGACTG	0.416																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5770-5772)GCC>GAA		G-protein coupled receptor 112																																				SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431636_135431637CC>AA	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	Exception_encountered	X.37:g.135431636_135431637delinsAA	ENSP00000377699:p.Ala1924Glu					GPR112_uc010nsb.1_Missense_Mutation_p.A1719E|GPR112_uc010nsc.1_Missense_Mutation_p.A1691E	p.A1924E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6062_6063	+	Acute lymphoblastic leukemia(192;0.000127)		1924			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	DNP	ENST00000394143.1	37	c.5771_5772CC>AA	CCDS35409.1																																																																																				0.416	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	142	0	0	0	0.004672	0	5	142				
MAGEC1	9947	broad.mit.edu	37	X	140996176	140996176	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:140996176C>A	ENST00000285879.4	+	4	3272	c.2986C>A	c.(2986-2988)Cag>Aag	p.Q996K	MAGEC1_ENST00000406005.2_Missense_Mutation_p.Q63K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	996	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Q996K(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)					GGGCATGTCCCAGAACCGCCT	0.502										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.(2986-2988)CAG>AAG		melanoma antigen family C, 1							100.0	92.0	95.0					X																	140996176		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996176C>A	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.2986C>A	X.37:g.140996176C>A	ENSP00000285879:p.Gln996Lys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Missense_Mutation_p.Q63K	p.Q996K	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3272	+	Acute lymphoblastic leukemia(192;6.56e-05)		996			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2986C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.187270	0.00305	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.03860	3.78;3.78	0.837	-1.67	0.08238	.	.	.	.	.	T	0.01124	0.0037	N	0.00468	-1.46	0.09310	N	1	B	0.15930	0.015	B	0.17979	0.02	T	0.47114	-0.9142	8	0.11794	T	0.64	.	.	.	.	.	996	O60732	MAGC1_HUMAN	K	996;63	ENSP00000285879:Q996K;ENSP00000385500:Q63K	ENSP00000285879:Q996K	Q	+	1	0	MAGEC1	140823842	0.009000	0.17119	0.001000	0.08648	0.022000	0.10575	0.447000	0.21710	-0.507000	0.06549	0.279000	0.19357	CAG		0.502	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		48	109	1	0	2.64894e-19	0.00361	4.06343e-19	48	109				
PDZD4	57595	broad.mit.edu	37	X	153069795	153069795	+	Silent	SNP	G	G	A	rs368966078		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:153069795G>A	ENST00000164640.4	-	8	1514	c.1323C>T	c.(1321-1323)taC>taT	p.Y441Y	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Silent_p.Y366Y|PDZD4_ENST00000544474.1_Silent_p.Y332Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	441						cytoplasm (GO:0005737)		p.Y441Y(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					CCGCCAGGTCGTAGAGGCTCT	0.627																																							uc004fiz.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1321-1323)TAC>TAT		PDZ domain containing 4		G		1,3832		0,1,1631,569	36.0	33.0	34.0		1323	-5.9	0.0	X		34	0,6715		0,0,2425,1865	no	coding-synonymous	PDZD4	NM_032512.2		0,1,4056,2434	AA,AG,GG,G		0.0,0.0261,0.0095		441/770	153069795	1,10547	2201	4290	6491	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069795G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1323C>T	X.37:g.153069795G>A						PDZD4_uc004fiy.1_Silent_p.Y366Y|PDZD4_uc004fix.2_Silent_p.Y345Y|PDZD4_uc004fja.1_Silent_p.Y447Y|PDZD4_uc011mze.1_Silent_p.Y332Y	p.Y441Y	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	1573	-	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)		441					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1323C>T	CCDS14732.1																																																																																				0.627	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		4	32	0	0	0	0.001984	0	4	32				
RPS4Y1	6192	broad.mit.edu	37	Y	2712266	2712266	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrY:2712266G>T	ENST00000250784.8	+	3	369	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_001008.3	NP_000999.1	P22090	RS4Y1_HUMAN	ribosomal protein S4, Y-linked 1	77	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R77L(1)		kidney(1)|lung(2)	3						GGCAAGGTTCGAGTGGATGTC	0.423																																					Melanoma(193;1927 2965 17170 18413)	Melanoma(193;1927 2965 17170 18413)	uc004fqi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(229-231)CGA>CTA		ribosomal protein S4, Y-linked 1 Y isoform							208.0	157.0	170.0					Y																	2712266		645	2032	2677	SO:0001583	missense	6192				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrY:2712266G>T		CCDS14773.1	Yp11.3	2011-04-05	2004-05-21	2004-05-26	ENSG00000129824	ENSG00000129824		"""S ribosomal proteins"""	10425	protein-coding gene	gene with protein product	"""ribosomal protein S4Y"", ""40S ribosomal protein S4, Y"""	470000	"""ribosomal protein S4, Y-linked"""	RPS4Y			Standard	NM_001008		Approved	MGC5070, MGC119100, S4	uc004fqi.3	P22090	OTTHUMG00000036152	ENST00000250784.8:c.230G>T	Y.37:g.2712266G>T	ENSP00000250784:p.Arg77Leu						p.R77L	NM_001008	NP_000999	P22090	RS4Y1_HUMAN			3	273	+			77			S4 RNA-binding.		A8K9V4	Missense_Mutation	SNP	ENST00000250784.8	37	c.230G>T	CCDS14773.1																																																																																				0.423	RPS4Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088052.2	NM_001008		59	101	1	0	2.44918e-20	0.00361	3.79383e-20	59	101				
GRIK3	2899	broad.mit.edu	37	1	37356618	37356619	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:37356618_37356619insA	ENST00000373091.3	-	2	210_211	c.194_195insT	c.(193-195)aacfs	p.N65fs	GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.N65fs	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	65					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)			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)				TGTTGATGATGTTGGCAGAAAA	0.5																																							uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(193-195)AACfs		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_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.chr1:37356618_37356619insA	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.194_195insT	1.37:g.37356618_37356619insA	ENSP00000362183:p.Asn65fs					GRIK3_uc001cba.1_Frame_Shift_Ins_p.N65fs	p.N65fs	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	329_330	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	65			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Frame_Shift_Ins	INS	ENST00000373091.3	37	c.194_195insT	CCDS416.1																																																																																				0.500	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		35	306	NA	NA	NA	NA	NA	35	306	---	---	---	---
RHBG	57127	broad.mit.edu	37	1	156351938	156351938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:156351938delC	ENST00000368249.1	+	7	1096	c.1058delC	c.(1057-1059)gccfs	p.A353fs	RHBG_ENST00000255013.3_Frame_Shift_Del_p.A284fs|RHBG_ENST00000400992.2_Frame_Shift_Del_p.A321fs|RHBG_ENST00000368246.2_Frame_Shift_Del_p.A353fs|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000451864.2_Frame_Shift_Del_p.A275fs|RHBG_ENST00000537040.1_Frame_Shift_Del_p.P186fs	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	353					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTCCTGGGGGCCCTCCTGGGG	0.557																																							uc010pho.1		NA																	0				ovary(2)	2						c.(1057-1059)GCCfs		Rhesus blood group, B glycoprotein							73.0	76.0	75.0					1																	156351938		1852	4077	5929	SO:0001589	frameshift_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156351938delC	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1058delC	1.37:g.156351938delC	ENSP00000357232:p.Ala353fs					RHBG_uc010phm.1_Frame_Shift_Del_p.P186fs|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Frame_Shift_Del_p.A284fs|RHBG_uc009wrz.2_Frame_Shift_Del_p.A321fs|RHBG_uc001for.2_Frame_Shift_Del_p.A323fs	p.A353fs	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			7	1096	+	Hepatocellular(266;0.158)		353			Helical; (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Del	DEL	ENST00000368249.1	37	c.1058delC																																																																																					0.557	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		42	201	NA	NA	NA	NA	NA	42	201	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26463295	26463295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:26463295delA	ENST00000265944.5	+	30	4268	c.4102delA	c.(4102-4104)aagfs	p.K1368fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1368	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGTTGAGGAAGGACAAGAT	0.433																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(4102-4104)AAGfs		myosin IIIA							150.0	137.0	141.0					10																	26463295		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463295delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4102delA	10.37:g.26463295delA	ENSP00000265944:p.Lys1368fs					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.K1368fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4462	+			1368			IQ 3.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.4102delA	CCDS7148.1																																																																																				0.433	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		76	160	NA	NA	NA	NA	NA	76	160	---	---	---	---
CPNE8	144402	broad.mit.edu	37	12	39087640	39087640	+	Splice_Site	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:39087640delC	ENST00000331366.5	-	15	1058	c.962delG	c.(961-963)ggc>gc	p.G321fs	CPNE8_ENST00000538596.2_5'UTR|CPNE8_ENST00000360449.3_Splice_Site_p.G309fs	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	321	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGCAGGGTTGCCTGATGACAG	0.348																																							uc001rls.1		NA																	0				pancreas(1)	1						c.(961-963)GGCfs		copine VIII							96.0	80.0	86.0					12																	39087640		2203	4300	6503	SO:0001630	splice_region_variant	144402							g.chr12:39087640delC	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.962-1G>-	12.37:g.39087640delC						CPNE8_uc001rlr.1_5'UTR	p.G321fs	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			15	1046	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	321			VWFA.		Q2TB41|Q86VY2	Frame_Shift_Del	DEL	ENST00000331366.5	37	c.962delG	CCDS8733.1																																																																																				0.348	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	Frame_Shift_Del	31	80	NA	NA	NA	NA	NA	31	80	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56221691	56221699	+	In_Frame_Del	DEL	CCTGCCTGT	CCTGCCTGT	-	rs572417234		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	CCTGCCTGT	CCTGCCTGT	-	-	CCTGCCTGT	CCTGCCTGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56221691_56221699delCCTGCCTGT	ENST00000357606.3	-	3	1033_1041	c.744_752delACAGGCAGG	c.(742-753)ggacaggcaggc>ggc	p.248_251GQAG>G	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_In_Frame_Del_p.248_251GQAG>G|DNAJC14_ENST00000317287.5_In_Frame_Del_p.248_251GQAG>G|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	248					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCACCAAAAGCCTGCCTGTCCAAGTTGAC	0.536																																							uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(742-753)GGACAGGCAGGC>GGC		dopamine receptor interacting protein																																				SO:0001651	inframe_deletion	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221691_56221699delCCTGCCTGT	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.744_752delACAGGCAGG	12.37:g.56221691_56221699delCCTGCCTGT	ENSP00000350223:p.Gly248_Ala250del					DNAJC14_uc001shu.1_In_Frame_Del_p.248_251GQAG>G|DNAJC14_uc009zob.1_In_Frame_Del_p.248_251GQAG>G|DNAJC14_uc001shy.1_In_Frame_Del_p.248_251GQAG>G	p.248_251GQAG>G	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	948_956	-			248_251			Helical; (Potential).		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	In_Frame_Del	DEL	ENST00000357606.3	37	c.744_752delACAGGCAGG	CCDS8894.1																																																																																				0.536	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		9	111	NA	NA	NA	NA	NA	9	111	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216093	20216094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20216093_20216094insT	ENST00000331723.1	+	1	507_508	c.507_508insT	c.(508-510)tgtfs	p.C170fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		AGCTGCCTTTCTGTGGGCCCAA	0.51																																							uc010tkt.1		NA																	0				breast(3)	3						c.(505-510)TTCTGTfs		olfactory receptor, family 4, subfamily Q,																																				SO:0001589	frameshift_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216093_20216094insT	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.508dupT	14.37:g.20216094_20216094dupT	ENSP00000330049:p.Cys170fs						p.F169fs	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	507_508	+	all_cancers(95;0.00108)		169_170			Extracellular (Potential).		Q6IEX4	Frame_Shift_Ins	INS	ENST00000331723.1	37	c.507_508insT	CCDS32020.1																																																																																				0.510	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			13	98	NA	NA	NA	NA	NA	13	98	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724524	38724525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:38724524_38724525insA	ENST00000342213.2	-	1	1049_1050	c.703_704insT	c.(703-705)tggfs	p.W235fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	235						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGTTTGTCCCAGCGAGCGCCG	0.629																																							uc001wum.1		NA																	0				ovary(3)|skin(1)	4						c.(703-705)TGGfs		C-type lectin domain family 14, member A																																				SO:0001589	frameshift_variant	161198					integral to membrane	sugar binding	g.chr14:38724524_38724525insA		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.704dupT	14.37:g.38724525_38724525dupA	ENSP00000353013:p.Trp235fs						p.W235fs	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1050_1051	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		235			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Frame_Shift_Ins	INS	ENST00000342213.2	37	c.703_704insT	CCDS9667.1																																																																																				0.629	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		24	929	NA	NA	NA	NA	NA	24	929	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	64984878	64984878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:64984878delC	ENST00000268603.4	-	12	2301	c.1686delG	c.(1684-1686)cggfs	p.R562fs	CDH11_ENST00000394156.3_Frame_Shift_Del_p.R562fs|CDH11_ENST00000566827.1_Frame_Shift_Del_p.R436fs	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	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)			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)		CCTGCTTCTGCCGACTGAACC	0.597			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		0				lung(10)|ovary(3)|skin(1)	14						c.(1684-1686)CGGfs		cadherin 11, type 2 preproprotein							75.0	69.0	71.0					16																	64984878		2203	4300	6503	SO:0001589	frameshift_variant	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.chr16:64984878delC	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.1686delG	16.37:g.64984878delC	ENSP00000268603:p.Arg562fs	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Frame_Shift_Del_p.R562fs|CDH11_uc010vin.1_Frame_Shift_Del_p.R436fs	p.R562fs	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2120	-		Ovarian(137;0.0973)	562			Cadherin 5.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Frame_Shift_Del	DEL	ENST00000268603.4	37	c.1686delG	CCDS10803.1																																																																																				0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		15	41	NA	NA	NA	NA	NA	15	41	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87678356	87678356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:87678356delG	ENST00000284262.2	+	2	1117	c.875delG	c.(874-876)tggfs	p.W292fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	292					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)			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)		GTGGGCGAGTGGAAGAACGAC	0.672																																							uc002fkd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(874-876)TGGfs		junctophilin 3							90.0	87.0	88.0					16																	87678356		2198	4300	6498	SO:0001589	frameshift_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.chr16:87678356delG	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.875delG	16.37:g.87678356delG	ENSP00000284262:p.Trp292fs					JPH3_uc010vou.1_RNA	p.W292fs	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1129	+			292			Cytoplasmic (Potential).|MORN 7.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Del	DEL	ENST00000284262.2	37	c.875delG	CCDS10962.1																																																																																				0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			17	93	NA	NA	NA	NA	NA	17	93	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34079564	34079564	+	Frame_Shift_Del	DEL	G	G	-	rs376658740		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:34079564delG	ENST00000254466.6	-	1	333	c.306delC	c.(304-306)gccfs	p.A103fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.A103fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	103	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTGGGCGGCCCCATTGC	0.617																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(304-306)GCCfs		growth arrest-specific 2 like 2							93.0	96.0	95.0					17																	34079564		2203	4300	6503	SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079564delG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.306delC	17.37:g.34079564delG	ENSP00000254466:p.Ala103fs						p.A102fs	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	334	-		Ovarian(249;0.17)	102			CH.		Q8NHY4	Frame_Shift_Del	DEL	ENST00000254466.6	37	c.306delC	CCDS11298.1																																																																																				0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		54	159	NA	NA	NA	NA	NA	54	159	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35615290	35615290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:35615290delG	ENST00000394406.2	-	13	1585	c.1395delC	c.(1393-1395)gccfs	p.A465fs	ACACA_ENST00000353139.5_Frame_Shift_Del_p.A502fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.A387fs|ACACA_ENST00000360679.3_Frame_Shift_Del_p.A407fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	465	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAATCCCCATGGCAATCTGAA	0.363																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1393-1395)GCCfs		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						61.0	61.0	61.0					17																	35615290		2203	4300	6503	SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35615290delG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1395delC	17.37:g.35615290delG	ENSP00000377928:p.Ala465fs					ACACA_uc002hnk.2_Frame_Shift_Del_p.A387fs|ACACA_uc002hnl.2_Frame_Shift_Del_p.A407fs|ACACA_uc002hnn.2_Frame_Shift_Del_p.A465fs|ACACA_uc002hno.2_Frame_Shift_Del_p.A502fs|ACACA_uc010cuz.2_Frame_Shift_Del_p.A465fs	p.A465fs	NM_198836	NP_942133	Q13085	ACACA_HUMAN			13	1586	-		Breast(25;0.00157)|Ovarian(249;0.15)	465			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Del	DEL	ENST00000394406.2	37	c.1395delC	CCDS11317.1																																																																																				0.363	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		26	76	NA	NA	NA	NA	NA	26	76	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46628126	46628126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:46628126delG	ENST00000470495.1	-	2	2313	c.866delC	c.(865-867)ccgfs	p.P289fs	HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P289fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P289fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P157fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P157fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P289fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P216fs|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.P155fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P216fs			P14651	HXB3_HUMAN	homeobox B3	289					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGTGGGGACGGGCTCTCGTA	0.677											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002inn.2		NA																	0					0						c.(865-867)CCGfs		homeobox B3							67.0	81.0	76.0					17																	46628126		2203	4300	6503	SO:0001589	frameshift_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628126delG		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.866delC	17.37:g.46628126delG	ENSP00000417207:p.Pro289fs		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.1_Frame_Shift_Del_p.P216fs|HOXB3_uc010dbf.2_Frame_Shift_Del_p.P289fs|HOXB3_uc010dbg.2_Frame_Shift_Del_p.P289fs|HOXB3_uc002ino.2_Frame_Shift_Del_p.P289fs|HOXB3_uc010wlk.1_Frame_Shift_Del_p.P157fs|HOXB3_uc010wll.1_Frame_Shift_Del_p.P216fs	p.P289fs	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1266	-			289					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Del	DEL	ENST00000470495.1	37	c.866delC	CCDS11528.1																																																																																				0.677	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			63	161	NA	NA	NA	NA	NA	63	161	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56204617	56204617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:56204617delG	ENST00000361673.3	-	5	3015	c.2802delC	c.(2800-2802)cccfs	p.P934fs	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	934						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGAGTTGCTGGGGCTTGGCT	0.517																																							uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(2800-2802)CCCfs		heart alpha-kinase							43.0	47.0	45.0					18																	56204617		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204617delG	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2802delC	18.37:g.56204617delG	ENSP00000354991:p.Pro934fs					ALPK2_uc002lhk.1_Frame_Shift_Del_p.P265fs	p.P934fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3016	-			934					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.2802delC	CCDS11966.2																																																																																				0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		10	47	NA	NA	NA	NA	NA	10	47	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671619	31671619	+	Frame_Shift_Del	DEL	G	G	-	rs2424943	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:31671619delG	ENST00000375483.3	+	3	616	c.616delG	c.(616-618)gggfs	p.G207fs		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	207	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTTGGAGGAGGGGGTGTCCT	0.652																																							uc010zue.1		NA																	0					0						c.(616-618)GGGfs		antimicrobial peptide RY2G5 precursor							36.0	42.0	40.0					20																	31671619		2199	4295	6494	SO:0001589	frameshift_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671619delG	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.616delG	20.37:g.31671619delG	ENSP00000364632:p.Gly207fs						p.G206fs	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	631	+			206			Gly-rich.		Q5TDX6	Frame_Shift_Del	DEL	ENST00000375483.3	37	c.616delG	CCDS13213.2																																																																																				0.652	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		10	152	NA	NA	NA	NA	NA	10	152	---	---	---	---
PXK	54899	broad.mit.edu	37	3	58383335	58383335	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:58383335delT	ENST00000356151.2	+	11	1097	c.988delT	c.(988-990)ttgfs	p.L330fs	PXK_ENST00000383715.4_Frame_Shift_Del_p.L313fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.L193fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.L330fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.L313fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.L313fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.L297fs|PXK_ENST00000463280.1_Frame_Shift_Del_p.L297fs	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCCACAGACATTGGAAAGTGT	0.547																																							uc003djz.1		NA																	0				ovary(1)	1						c.(988-990)TTGfs		PX domain containing serine/threonine kinase							181.0	162.0	169.0					3																	58383335		2203	4300	6503	SO:0001589	frameshift_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58383335delT	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.988delT	3.37:g.58383335delT	ENSP00000348472:p.Leu330fs					PXK_uc003djx.1_Frame_Shift_Del_p.L330fs|PXK_uc003djy.1_Frame_Shift_Del_p.L313fs|PXK_uc003dka.1_Frame_Shift_Del_p.L330fs|PXK_uc003dkb.1_Frame_Shift_Del_p.L247fs|PXK_uc003dkc.1_Frame_Shift_Del_p.L313fs|PXK_uc011bfe.1_Frame_Shift_Del_p.L297fs|PXK_uc010hnj.1_Frame_Shift_Del_p.L297fs|PXK_uc003dkd.1_Frame_Shift_Del_p.L193fs|PXK_uc010hnk.1_Frame_Shift_Del_p.L104fs	p.L330fs	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	11	1087	+			330			Protein kinase.			Frame_Shift_Del	DEL	ENST00000356151.2	37	c.988delT	CCDS2889.1																																																																																				0.547	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		28	173	NA	NA	NA	NA	NA	28	173	---	---	---	---
GPR27	2850	broad.mit.edu	37	3	71804249	71804249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:71804249delG	ENST00000304411.2	+	1	1049	c.1049delG	c.(1048-1050)aggfs	p.R350fs	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	350					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GACTGCTTCAGGGCCCAGTTC	0.652																																							uc011bge.1		NA																	0				ovary(1)	1						c.(1048-1050)AGGfs		G protein-coupled receptor 27							16.0	16.0	16.0					3																	71804249		2183	4277	6460	SO:0001589	frameshift_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804249delG	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1049delG	3.37:g.71804249delG	ENSP00000303149:p.Arg350fs					EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	p.R350fs	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	1049	+		Prostate(10;0.00899)	350			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000304411.2	37	c.1049delG	CCDS2915.1																																																																																				0.652	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		7	17	NA	NA	NA	NA	NA	7	17	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87039828	87039828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:87039828delG	ENST00000398399.2	-	1	429	c.66delC	c.(64-66)cccfs	p.P22fs	VGLL3_ENST00000383698.3_Frame_Shift_Del_p.P22fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCGCTGCCATGGGGTTGGGCA	0.692																																							uc003dqn.2		NA																	0					0						c.(64-66)CCCfs		colon carcinoma related protein							30.0	36.0	34.0					3																	87039828		1931	4129	6060	SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87039828delG	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.66delC	3.37:g.87039828delG	ENSP00000381436:p.Pro22fs						p.P22fs	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	1	430	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	22						Frame_Shift_Del	DEL	ENST00000398399.2	37	c.66delC	CCDS43110.1																																																																																				0.692	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	36	NA	NA	NA	NA	NA	8	36	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																							uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	222	NA	NA	NA	NA	NA	7	222	---	---	---	---
TXK	7294	broad.mit.edu	37	4	48073614	48073614	+	Frame_Shift_Del	DEL	T	T	-	rs200152456		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:48073614delT	ENST00000264316.4	-	14	1520	c.1435delA	c.(1435-1437)attfs	p.I479fs	TXK_ENST00000507351.1_Frame_Shift_Del_p.I134fs	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CCTTCAGAAATAGCTTCCACG	0.398																																							uc003gxx.3		NA																	0					0						c.(1435-1437)ATTfs		TXK tyrosine kinase							142.0	143.0	143.0					4																	48073614		2203	4300	6503	SO:0001589	frameshift_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48073614delT	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1435delA	4.37:g.48073614delT	ENSP00000264316:p.Ile479fs					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Frame_Shift_Del_p.I166fs	p.I479fs	NM_003328	NP_003319	P42681	TXK_HUMAN			14	1521	-			479			Protein kinase.		Q14220	Frame_Shift_Del	DEL	ENST00000264316.4	37	c.1435delA	CCDS3480.1																																																																																				0.398	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		63	182	NA	NA	NA	NA	NA	63	182	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146059084	146059085	+	Frame_Shift_Ins	INS	-	-	T	rs201617367		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:146059084_146059085insT	ENST00000447906.2	-	21	3029_3030	c.2842_2843insA	c.(2842-2844)acgfs	p.T948fs	OTUD4_ENST00000454497.2_Frame_Shift_Ins_p.T883fs|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	948					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGCCAATGCCGTATCTGCCTTT	0.52																																							uc003ika.3		NA																	0				ovary(2)|breast(1)	3						c.(2647-2649)ACGfs		OTU domain containing 4 protein isoform 3																																				SO:0001589	frameshift_variant	54726						protein binding	g.chr4:146059084_146059085insT		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2843dupA	4.37:g.146059085_146059085dupT	ENSP00000395487:p.Thr948fs					OTUD4_uc003ijz.3_Frame_Shift_Ins_p.T882fs	p.T883fs	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2785_2786	-	all_hematologic(180;0.151)		947					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Ins	INS	ENST00000447906.2	37	c.2647_2648insA																																																																																					0.520	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		33	194	NA	NA	NA	NA	NA	33	194	---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10442407	10442408	+	Frame_Shift_Ins	INS	-	-	G	rs367925100		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:10442407_10442408insG	ENST00000503804.1	+	2	649_650	c.128_129insG	c.(127-132)gcgggcfs	p.AG43fs	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Frame_Shift_Ins_p.AG43fs|ROPN1L-AS1_ENST00000513037.1_RNA			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	43	RIIa.				epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGGTGGTCCGCGGGGTAAGCGC	0.683																																							uc003jex.3		NA																	0				ovary(1)	1						c.(127-129)GCGfs		ropporin 1-like																																				SO:0001589	frameshift_variant	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10442407_10442408insG	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.131dupG	5.37:g.10442411_10442411dupG	ENSP00000421405:p.Ala43fs						p.A43fs	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			1	399_400	+			43			RIIa.		D3DTC9|Q9BZX0	Frame_Shift_Ins	INS	ENST00000503804.1	37	c.128_129insG	CCDS3879.1																																																																																				0.683	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		9	67	NA	NA	NA	NA	NA	9	67	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66112422	66112422	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:66112422delG	ENST00000370621.3	-	7	1659	c.1133delC	c.(1132-1134)cctfs	p.P378fs	EYS_ENST00000370616.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.P378fs|EYS_ENST00000342421.5_Frame_Shift_Del_p.P378fs|EYS_ENST00000370618.3_Frame_Shift_Del_p.P378fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	378	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTCAAAGGAAATGACTC	0.279																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(1132-1134)CCTfs		eyes shut homolog isoform 1							60.0	59.0	59.0					6																	66112422		2201	4286	6487	SO:0001589	frameshift_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66112422delG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1133delC	6.37:g.66112422delG	ENSP00000359655:p.Pro378fs					EYS_uc003peq.2_Frame_Shift_Del_p.P378fs|EYS_uc003per.1_Frame_Shift_Del_p.P378fs	p.P378fs	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1671	-			378			EGF-like 5.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	37	c.1133delC																																																																																					0.279	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	29	NA	NA	NA	NA	NA	7	29	---	---	---	---
ZNF679	168417	broad.mit.edu	37	7	63727024	63727024	+	Frame_Shift_Del	DEL	C	C	-	rs111583875		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:63727024delC	ENST00000421025.1	+	5	1282	c.1013delC	c.(1012-1014)accfs	p.T338fs	ZNF679_ENST00000255746.4_Frame_Shift_Del_p.T338fs	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGCTCCTCAACCCTTAAGAAA	0.393																																							uc003tsx.2		NA																	0				skin(1)	1						c.(1012-1014)ACCfs		zinc finger protein 679							32.0	32.0	32.0					7																	63727024		692	1591	2283	SO:0001589	frameshift_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727024delC	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1013delC	7.37:g.63727024delC	ENSP00000416809:p.Thr338fs						p.T338fs	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			5	1282	+			338			C2H2-type 7.			Frame_Shift_Del	DEL	ENST00000421025.1	37	c.1013delC	CCDS47592.1																																																																																				0.393	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		7	39	NA	NA	NA	NA	NA	7	39	---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134134483	134134483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:134134483delC	ENST00000285930.4	-	4	497	c.418delG	c.(418-420)gacfs	p.D140fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	140					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GCCCACGTGTCCAGAATGTTG	0.458																																							uc003vrp.1		NA																	0				ovary(3)	3						c.(418-420)GACfs		aldo-keto reductase family 1, member B1	NADH(DB00157)|Sulindac(DB00605)						190.0	170.0	177.0					7																	134134483		2203	4300	6503	SO:0001589	frameshift_variant	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134134483delC	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.418delG	7.37:g.134134483delC	ENSP00000285930:p.Asp140fs					AKR1B1_uc003vrq.1_RNA	p.D140fs	NM_001628	NP_001619	P15121	ALDR_HUMAN			4	492	-			140					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Frame_Shift_Del	DEL	ENST00000285930.4	37	c.418delG	CCDS5831.1																																																																																				0.458	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		9	327	NA	NA	NA	NA	NA	9	327	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1616835	1616835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:1616835delC	ENST00000421627.2	+	6	2045	c.1911delC	c.(1909-1911)atcfs	p.I637fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	716					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCTCCTCCATCGGGATTCAGG	0.632																																							uc003wpl.2		NA																	0					0						c.(1909-1911)ATCfs		discs large-associated protein 2							14.0	19.0	17.0					8																	1616835		1999	4156	6155	SO:0001589	frameshift_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616835delC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1911delC	8.37:g.1616835delC	ENSP00000400258:p.Ile637fs					DLGAP2_uc003wpm.2_Frame_Shift_Del_p.I637fs	p.I637fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	2008	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	716					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Frame_Shift_Del	DEL	ENST00000421627.2	37	c.1911delC	CCDS47760.1																																																																																				0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
